Major - Subcutaneous nodules, polyarthritis, erythema marginatum, Sydenham's Chorea, Carditis (most common and reliable sign). Mneumonic spells "SPECC"
Minor - fever, arthralgia, prior documented ARF, prolonged PR interval on EKg, increased ESR or CRP, increased ASO titre and leukocytosis.
Pathology: Autoimmune mechanism
Treatment: Penicillin, bed rest, salicylates, corticosteroids if significant carditis. Diuretics, salt restriction, digitalis and ACE inhibitor if CHF develops. Sedatives for chorea. Rarely cardiac surgery is indicated.
Prevention: Prompt antibiotics for strep pharyngitis.
Kawasaki Syndrome
- General: Generalized arteritis of medium and large vessels of unknown etiology
- Symptoms: Acute febrile illnes (fever at least 5 days), bilateral nonpurulent conjuctival injection, polymorphous exanthem and erythema, swelling of hands/feet, inflammatory changes of lips and oral mucosa, paronychial desquamation, acute cervical adenopathy, leukocytosis, thrombocytosis, increased ESR and anemia. Up to25% will develope coronary artery aneurysms which may lead to throbus emboli, acute MI, or hemmorhagic rupture. Carditis in 40%, mital regurge in ~10%. Mortality rate approaches 2%.
- Treatment: 100mg/kg/d ASA for 14 days, then 8-10mg/kg PO for an extended period. IVIG within 10 days of onset at 2gm/kg/dose X1.
SVT
- General: Sustained, accelerate, nonsinus cardiac rhythm originating above the level of the AV junction. Accounts for over 90% of arrhythmias in this age group. One in every 250 to 1000 chidren
- Types: Abnormal or enhanced normal automatic rhythm; or reentrant rhythm (90% of SVT's' short PR with stunned ventricle; conduction delay = pre-excitation)
- Symptoms: infant with long episodes will present with tachypnea, loss of interest in feedign, irritability, progressing over 24-48 hours to lethargy, sternal and intercostal retractions and signs of CV impairment (weak pulse, ashen color, etc.)
- Treatment:
- physiologic conversion: (valvsalva for 30-60 seconds, gag reflex, deep inspiration, cough, [reentrant] headstand, facial immersion in cold h20);
- pharmocologic conversion: verapamil - contraindicated in first year of life, may lead to cardiac arrest; adenosine - at 50 mg/kg IV, increasing by 50 ug increments until conversion or side effects such as flushing, headache or chest discomfort appear;
- electric conversion: transthoracic, or esophageal overdrive
- Prophylaxis: digoxin
CHF Presentation in Newborn
Diffuse rales, diaphoretic feeding, breathes hard when feeding, cardiac hepertrophy, CXR shows interstitial enhancement.
Innocent Murmurs
- General: about 40% of children will have a murmur, 2-3% represent organic heart disease
- Carotid Bruits: grade 2-3/6, occassional thrill; differentiate from AS which is louder at URSB and often has ejection click
- Pulmonary Flow Murmur: typically due to branch pulmonary stenosis, transmits to the both axilla and back; 1-2/6; hypoplastic pulmonary arteries responsiblie. disappears by 3-6 months.
- Venous Hum: Usually 3-6 yo; continuous murmur, with diastolic componenet louder; disappears in the supine position and is obiterated by turnin g head; heard beter on the right side. Soft blowing continuous medium pitched, heard best at infraclavicular regions.
- Vibratory Murmur (Still's): 3-6 years old, best heard with bell in the supine position at LLSB; musical or vibratory quality disappears when the bell is pressed down. Midsystolic.
Atrial Flutter
Sawtooth EKG baseline; a common complication of atrial surgery.
Atrial Fibrillation
Uncommon spontaneous rhythm in children, may accompany structural heart disease.
VSD
- General: Most common Chd, 25% (membranous>muscular)
- Symptoms: Murmur often first detected at 1-2 months when pulmonary resistance decreases
enough for shunting to occur. Small defects are loudest; holosystolic at LSB,; large VSD had mid
diastolic rumble and may lead to Eisenmengers's syndrome. Spontaneous closure in 30-40%.
ASD
- General: Septum secundum 75%, septum primum 20% (may include mitral valve),
Septum Venosum 5-10%
- Symptoms: School age (4-5 years) child; relative tricuspid/pulmonary flow murmur;
Systolic ejection; fixed s2 split; increase vascular markings; right BBB.
Patent Ductus Arteriosis
- General: Especially common in prematures and congenital rubella
- Symptoms: CHF if large, hypozia, acidosis, machinery murmur systolic through diastolic,
bounding pulses (wide pulse pressure),
- Treatment: prostiglandin E maintains patency; indomethacin may induce closure;
surgical ligation
Tetrology of Fallot
- General: most common cyanotic CHD (6%); Tetrad = pulmonary hypoplasia, VSD, overridding
aorta, Right ventricular hypertrophy.
- Symptoms: cyanosis of digits, "squatting" position, "Tet" spells; single s2 with
ventricular heave; chest x-ray boot shaped, long systolic ejection murmur, clubbing, dyspnea.
Transposition of the Great Arteries
- General: 5% of all CHD, mixing through VSD, ASD, PDA
- Symptoms: cyanosis from birth; CHF; later clubbing; CXR shows narrow cardiac waist.
Coarctation of the Aorta
- General: 8% of all CHD; usually at descending just distal to ligamentum arteriosum;
if sever, presnets as CHF in infancy, ductal dependent; mostly asymptomatic; decreased femoral pulses, HTN upper extremity;
associated with Turner Syndrome; 10% have CNS berry aneurysms, 50% have bicuspid aortic valve.
- Symptoms: systolic ejection murmur at back, 4 extremity pulses show UE>LE, suprasternal
thrill, CXR=3 sign, rib notching (in older ages).
- Treatment: Balloon angioplasty, or open surgical repair
Endocardial Cushions
- General: failure to join at cushions= VSD, ASD, or AV canal defects; typically results
in cyanotic diseases. Often seen in downs syndrome.
Development and Behavior
Developmental Milestones
| Age | Milestones
|
| 1 mo | Raises head slightly when prone; alerts to sound; regards face; moves extremities
equally; makes indistinct noises
|
| 3 mo | Smiles; holds head up; coos, reaches for familiar objects; laughs; recognizes
parent
|
| 4-5 mo | Rolls front ot back and back to front; sits well when propped; orients to voice; enjoys
looking around at surroundings; grasps objects, bears some weight on legs
|
| 6 mo | Sits unsupported, stranger anxiety; passes cube hand to hand; babbles, uses raking grasp
feeds self crackers; smiles at self in mirror
|
| 9 mo | crawls, cruises; oulls to stand; pincher grasp, plays patty cake; understands no,
says mama/dada discriminatelyl; feeds self with bottle, explores environment.
|
| 12m mo | Walking, talking few words,; throws objects; comes when called; imitates actions
|
| 15-18 mo | scribbles, walks backward; uses 4-20 words; builds tower of 2 blocks; points to body
parts; runs, spoon feeds self, copies parent
|
| 24-30 mo | Removes shoes; follows 2 step command; jumps with both feet; holds pencil;
knows first and last name; knows ronoundsl knows own gender; 2 word phrases; parallel play with others,
builds 6 block tower; climbs on furniture
|
| 3 yr | Dresses and undresses self, walks up and down steps; draws a circle, knows more than
250 words, takes turns, shares; 3 word sentences; group play,
|
| 4 yr | Hops, skips, catches ball; memorizes songs; plays cooperativelyl knows colors , uses 6-7 word sentences
|
| 5 yr | Jumps over objects; prints first name, ties shoes, knows address and mothers name;
tolerates seperation, follows game rules
|
Enuresis
- General: By age 5 years, 20% of children still wet the bed at night, 5% also wet during the day;
the gradual acquisition of bladder control, first during the day, then at night normally occcurs in toddler and preschool ages;
enuresis is more frequent in boys; significant genetic contribution; rare neurologic or anatomic
problem.
- Treatment: May treat with wetting alarms or imipramine
Encopresis
- General: Majority are constipated in early childhood and infancy, then during toilet training the child resists having
bowel movements (often complicated by parent-child interaction problems). In preschool period BM's are infrequent and megacolon
develops as indicated by large stools 1-2 times per week; finally leaking of watery stool from proximal colon around impacted stool in distal colon leads
to soiling; other causes can include Hirschsprung, attention-deficit or other serious pathology.
Attention Deficit Hyperactivity Disorder
- General: Subtle neurologic impairmnets; more common in malesl school failure,
genetic predisposition; prevalence is 3%
- Symptoms: Distractability, fidgety, impulsive, poor attention to tasks, talks excessively
and intrudes, loses things, physically dangerous activities
- Treatment: Stimulants (methylphenidate HCl), TCA's individual/Family Therapy, special education
Autism
- General: Pervasive developmental disorder, immpairments in reciprocal social interaction,
verbal and nov-verbal communication, restricted repetoire of interests.
- Pathology: Undefined, may show enlarged cerebral ventricles, seizures, increased serotonin levels in 1/3
- Treatment: Haloperodol for hyperactivity, lithium for aggressiveness
Pica
Ingestion of non-nutritive substances: plaster, ice, clay - can lead to poisonings.
Anorexia
- General: Refusal to maintain minimal normal body weight. Intense fear of gaining weight.
Distorted body image, amenorrhea, predominantly in females. potentially fatal
- Treatment: Cognitive behavorial therapy; antidepressants if depressed
Breath Holding (apnea)
School Phobia
Bonding/Attachment
Nightmares vs. Night terrors
Thumbsucking
Endocrine
Diabetes Mellitus, Type I
- General: Type I IDDM, insulin deficiency with elevated glucagon: Diagnosed by 2 or more
gluscos levels >140; islet cell abnormalities; related to HLA class II inheritance (HLA-DQ 3 or HLA-DR3)
- Symptoms: Polyuria, polydipsia, hyperglycemia, urine and blood ketones, may cause ketoacidosis (DKA)
with lethargy, N/V, abdominal pain, confusion, Kussmauls respirations, dehydration and fruity breath;
Glucose leves >400, dever metabolic acidoss with increased anion gap
- Treatment: Continuous insulin infusion at 5-10 u/hr or 0.1 U/kg/hr; correct fluid/electrolyte
abnormalities with isotonic saline to start; check glucose every hour, check potassium every 2 hours
(K will fall during treatment if not replaced). Usual regiment is 30 kcal/kg/day diet with regularly scheduled
meals. 1/3 regular and 2/3 NPH with 1/3 in morning and 2/3 with dinner.
- Complications: Most severe is cerebral edema
- Samogyi Effect: Nocturnal hypoglycemia causes elevated mroning glucose; reduce insulin dose at night.
- Dawn Phenomenon: Early morning hyperglycemia (reduced insulin effectiveness at that time of day).
Diabetes Mellitus, Type II
- General: NIDDM by far more common type; >90% concordance with twins
- Symptoms: Polyuria, polydipsia, blurry vision may be asymptomatic; > incidence of skin/vaginal infections;
macrosomia may result from poor glucose control in diabetic mother. Type 2 diabetics are prone to develop hyperosmolar coma and severe dehydration,
lethargy, confusion, very high serum glucose levels without ketosis.
- Diagnosis: >2 fasting glucose values over 140 or greater
than 2 glucose tolerace tests over 200 (within first two hours)
- Complications: Include: retinopathy, cataracts, neuropathy, nephropathy, atherosclerosis and increased incidence of infection.
- Treatment:Diet, oral hypoglycemics, weight control, exercise and insulin if severe HbA1c gives indication fo glucose
control over the past 2-3 months. Na replacement, rehydration and insulin at lower doses than required for ketosis.
Diabetes Insipidous
- General: Water-Loss Syndrome; Nephrogenic=kidney does not respond to ADH (vasopressin);
Neurogenic=inadequate ADH
- Symptoms: polyuria, nocturia, thirs (may crave ice)
- Diagnosis: urine specific gravity < 1.005, urine osmolality <250, H2O loss>3L/day.
- Treatmetn: ADH replacement; pitressin tannate, 1-deamino-8-d-arginine vasopressin (DDAVP)
Growth Hormone Deficiency
- General: Lengthening of skeletal system dependent upon IGF-1 (somatomedin C) secreted
in response to GH; in workup of short stature one may find low level fo IGF-1 or IGFBP-3 (sensitive
but not specific) and/or GH at <10mg/ml in response to oral clonidinie/IV arginine and insulin.
MRI of brain should be done to rule out craniopharyngioma
- Treatment: Consider recombinant GH
Congenital Hypothyroidism
- Symptoms: Dry skin, lethargy, umbilical hernia, jaundice, slow teething, slow sexual
development and mental retardation.
- Pathology: Primarily aplasia or hypoplasia of the thyroid, Secondarily is TSH deficiency and
lastly consider TRH deficiency.
- Diagnosis: elevated TSH, low T4, bone stippling, delayed maturation
- Treatment: Levothyroxine
Acquired Hypothyroidism
- General: Secondary to surgical excision, thyroiditis, or unknown etiology.
- Symptoms: may be asymptomatic, myxedema, cold intolerance, dry skin, lateral eyebrow thinning (Queen Ann sign),
and constipation.
- Diagnosis: elevated TSH, low T4, anemia
- Treatment: Levothyroxine, myxedema may lead to cardiomegally and heart failure if not treated promptly.
Cushing Syndrome
- General: Glucocorticoid oberabundance
- Symptoms: Centripetal obesity, striae/bruising, hypertension, hirsutism, weakness, osteoporosis,
moon face and buffaloe hump (15%)
- Diagnosis: overnight Dexamethasone suppression test, 24 hour urine free cortisol, elevated urine 17-hyrdroxy steroids,
metyrapone stimulation test.
- Pathology: Cushing's diseasse most common (usually pituatary adenoma) but may be from
adrenal tumor or other ectopic ACTH secretion.
Congenital Adrenal Hyperplasia (adrenogential syndrome)
- General: Enzyme disorder of steroidgenesis, 95% caused by 21-hydroxylase deficiency may cause pseudohermaphroditism
(female virilization) with hirsutism, amenorrhea, deep voice, acne and enlarged clitoris (this may be caused by
polycystic ovary also). 50-75% of CAH are salt losing with sever life threatening hyperkalemia
- Diagnosis: high levels of 11-deoxycortisol or 17-hydroxyprogesterone. Newborn screening in several states.
- Treatment: Glucocorticoid and mineralcorticoid replacement.
Rickets
- General: inadequate bone mineralization in growing bone due to vitamin D deficiency
(poor intake, malabsorption) and/or rapid growth (growth plates affected).
- Symptoms: Craniotabes (soft skull), frontal bossing, lethargy, rachitic rosary (large costochondral junction bumps),
bow legs, potbelly, Harrison's groove sign (abdominal groove at diaphragm insertion site).
- Diagnosis: history and physical exam, X-rays show frayed widened bone ends, pseudofractures, elevated alkaline phosphatase
- Treatment: Vitamin D and sunlight.
- Other: Phenytoin sodium (dilantin) and phenobarbital affect Vitamin D metabolism and may predispose
to rickets. other causes include liver and renal disease.
Gastroenterology
GERD
- General: Acid washing up into acid sensitive esophagus. Dysphagia may develop due to benign strictures. Rare bleeding from erosive esophagitis
- Symptoms: Heart burn, occasionally chronic cough, nocturnal cough, choking, wheezing, laryngospasm, hoarseness, earache
- Diagnosis Upper GI endoscopy;
- Complications:Erosive esophagitis benign peptic stricture, Barrett's esophagus (squamous mucosa of distal esophagus transforms via metaplasia to columnar with increased risk of adenocarcinoma. Esophagastroduodenoscopy every 2-3 years is indicated.
- Treatment: H2 antagonists 2X daily, metoclopramine short term @ 15 mg QID or prior to known provocative situation, omeprazole 20 mg in am for not greater than 8-12 weeks; surgical fundo plication (Nissan)
INTUSSUSCEPTION
- General: Segment of bowel telescopes into the immediately distal segment, usually of the small bowel; in infants and children usually occurs spontaneously and is reversible;
in adults the point of traction is usually a tumor; may lead to infarction
PYLORIC STENOSIS (congenital hypertrophic pyloric stenosis)
- General: Hypertrophy and possibly hyperplasia of circular muscle of the muscularis propria of the pylorus; ovoid mass (olive sign) may be palpable by PE; 1:300-900 live births; male:female = 4:1; Multi factorial inheritance, high concordance in twins; mucosal edema and inflammation aggravate narrowing; regurgitation and vomiting by 3rd week of life.
- Symptoms: Males, first born; non-bilious emesis projectile; dehydration; dehydration with hypochloremic alkalosis
- Diagnosis: With ultrasound or barium study
- Treatment: Pyloromyotomy
- Other: Acquired pyloric stenosis may result from chronic antral gastritis, peptic ulcers close to the pylorus or malignancy.
TRACHEOESOPHAGEAL FISTULA
- General: 85% resulting in proximal esophageal atresia plus tracheal to distal esophageal fistula; also H-type and isolated esophageal atresia.
- Symptoms: Maternal polyhydramnios, excessive oral secretions;
- Diagnosis: By failure to pass nasal catheter to stomach;
- Treatment: Surgical
- Other: Watch for VACTERL association (Vertebral defects, Anal atresia, Cardiac anomalies, TracheoEsophageal fistula, Renal anomalies and Limb abnormalities)
CELIAC DISEASE
- General: Also called gluten-sensitive enteropathy,nontropicall sprue; generally a disease of whites. Prevalence 1:2000-3000.
- Pathology: Immunologic sensitivity to gluten, which contains the gliaden protein component shared by wheat, oat barley and rye. Genetic susceptability with increased Dqn2 and HLA B8. Immune mediated injury with serum Ab's to gliaden and B cell intestinal wall infiltrate;
- Morphology:Diffuse enbteritis, flattened (atrophic) billi, elongated regenerative crypts, intra- epithelial lymphocytes and a characteristic diminshing severity from proximal to distal in the small intestine.
- Symptoms: Diarrhea, flatulance, weight loss and fatigue;
- Complications:Iron and vitamin deficiency, 10-15% lifetime risk of GI B cell or T cell lymphoma.
PEPTIC ULCER DISEASE
- General: Helicobacter (formerly campylobacter) pylori is the most common cause of acute and chronic gastritits, duodenitits, and peptic ulcer disease in adult and the cause of at least 20% of affected children. In the U.S. about 5% of children are infected and the incidence rises steadily with age
- Symptoms: Epigastric pain, dull ache relieved by food, pain may radiate to back , hematemesis, melena, anemai, or hematochezia;
- Pathology: H. Pylori produces urease, a protease that degrades gastric mucin, may infiltarate mucosa and cause antral gastritits;
- Treatment: Triple thereapy with bismuth, tetra cycline, and metronidazaole; if H. Pylori is not the cause of short term treatment with H2 blockers or omeprazole may be attempted, also stop all caustics: ETOH, NSAIDS, caffeine and nicotine.
CROHN'S DISEASE
- General: Chonic inflammation of the GI tract; unkown etiology; peak age of onset between 2nd and 4th decades
- Symptoms: Crampy abdominal pain, fever, athritis, diarrhea, nausea and vomiting, anorexia, fear of eatin, hemolytic anemeia, increased ESR, finger clubbing.
- Pathology: Transmural involvement of bowel wall, non-caseating granulomas, apthous ulcers, malignant potential, obsturction, perforation with abcess formation , perianal abcess, perianal fissures, fistuale (to the bladder, vagina, colon, skin or among loops of bowel.
- Diagnosis: PE: abdominal mass RLQ; Endoscopy: erythematous mucosa, skip lesions, Biopsy; Small bowel series: string sign fistulas, thicked bowel wall;
- Treatment: Flagyl and other Abx, steriods, sulfasalazine, 5-ASA, 6-mercaptopurine, azathiaprine, bowel rest; Surgical excision, bypass, stricturoplasty; Recurrence is very common.
ULCERATIVE COLITIS
- General: Mucosal inflammation; crypt abcesses, sloughing mucosa, colon shortening; bimodal incidence peak 2nd and 6th decades; may involve rectum alone or entire colon but lesion is continuous; malignant potential increases over time; multiple extraintestinal manifestations (athritis, skin lesions, etc)
- Symptoms: Bloody diarrhea, fever, crampy abdominal pain, tenesmus, urgency, incontinence;
- Diagnosis: Endoscopy: friable erythematous mucosa; Barium enema: Loss of haustral markings, stricture, stove pipe colon
- Treatment: IV fluids, NPO, steriod enemas, sulfasalazine and surgery for complications (eg: hemorrhafge, perforation, toxic megacolon, carcinoma)
HIRSCHSPRUNG MEGACOLON (congenital aganglionic bowel)
- General: Arrested migration of neural crest cells into the gut; absence of Auerback's and Meissner's plexuses. Rectum always affected, proximal involvement is more variable; progressive dilatation and hypertrophy of the unaffected proximal colon (megacolon) develop over time; incidence is 1:5000-8000, Male:female = 4:1.
- Symptoms: Presnets as intestinal obstruction, failure to pass meconium in 1st week, abdominal distention with difficutlty to pass stools in the young child
- Diagnosis: Barium enema: transition zone; Rectal Biopsy: 80% involves rectum only;
- Complications:Perforation, spesis, entercolitis with fluid derangements
- Diff. Diag: Must also consider acute obstruction, IBD, and encopresis.
JUVENILE POLYP
Hamartomatous malformation usually sporadic, majority occur in children less than 5 years old
and mostly in the rectum. Primary presentation is blood streaked stools
JUVENILE POLYPOSIS SYNDROME
Autosomal dominant; numerous polyps; risk of adenomas and adenocardcinoma.
PEUTZ-JEHGERS POLYP
Hamartomatous polyps of small intestine and colon; auto-dominant melanotic pigmentation of
mucosal and skin surgaces and ncreased risk of carcinomas of pancreas, breast, lung, ovary and
uterus.
VOLVULUS
- General: Potentially life threatening; incomplete rotation of bowel during embryogenesis leads to formation of Ladd's bands which may obstruct the duodenum and potentiate obstruction and infraction; usually occurs in the small bowel or in redundanct loops of sigmoid colon
- Symptoms: Neonatal BILIOUS emesis, abdominal distention.
- Diagnosis: Via barium study, locate liagement of Trietz and cecum
- Treatment: Surgical
CONGENITAL ATRESIA (duodenal atresia)
- General: Classically seen in Down's syndrome; bilious or non-bilious vomiting depending upon site of obstruction; "Double Bubble" seen on abdominal study due to distended stomach and proximal duodenum.
- Treatment: Surgical
BILIARY ATRESIA
- General: Extrahepatic biliary atresia is complete obstruction of bile flow owing to destruction or absence of all or part of the extrahepatic bile ducts; 1:10,000 live births;
- Pathology: Intact biliary tree at birth, progressive inflammatory destruction following birth, etiology unkown; may progress to bile duct obstruction with liver fibrosis leading to cirrhosis with in 3-6 months.
- Symptoms: Neonatal cholestatis and jaundice in an infant with normal birht weight and postnatal weight gain; if untreated deat occurs within 2 years;
- Treatment: Transplant is curative.
SHORT BOWEL SYNDROME
- General: Inadequate absorptive surface; most common causes 1) massive intestinal resection following a vascular insult to the small intestine 2) regional enteritis with normal bowel resections 3) jejunal bypass for morbid obesity; Resection of 40-50% of the small bowel is well tolerated provided the proximal dudodenum,k distal ileum and ileocecal valve are spared;
- Treatment:
1. Kcal intake should be increased because less is absorbed
2. Fat restriction (remember that hydroxy fatty acids act as cathartics and increase net secretion of H2O and electrolytes by colon and small bowel thus exacerbating diarrhea)
3. Vitamin, mineral and essential Fatty Acids supplementation
4. Belladonna alskaloids, diphenoxylate, loperamide and codeine all decrease intestinal motility and may be used to help control diarrhea.
5. Bile salts sequestrants also decrease diarrhea
6. Oftne trnaisent gastric acid hypersecretion occurs in individuals with SBS, an antihistamine is good for reducing subequent pancreatic enzyme inactivation which results
7. Pancreatic enzyme supplementation may still be required
8. TPN may be required, particularly with in the first 6 months following intestinal resection before adaptation has occurred.
REYE SYNDROME
- General: Acute disorder, usually occuring 3-5 dyas after a viral illness in childhood, heralded by pernicious vomiting, irritability,k and lethary; also abnormal liver function, hypoglycemia anbd respiratory alkalosis
- Morphology:Microvesidcular steatosis and disruption of mintochondrial ultarstructure in hepatocytes, skeletal muscle, kidneys and heart; in sever cases cerbral edema results.
- Pathology: Believed mitochondrial or fatty acid metabolism biochemical derangement. Strong association with administration of salicylates during viral syndrome.
- Other: Fatality rate 10-40%. Recovery is usually complete.
Genetics and Metabolism
PHENYLKETONURIA
- General: Classic PKU is relatively common in people of Scandinavian descent and uncommon in blacks and Jews; various mutations esxist lending to varible degrees of phenalanine hydroxylase deficiency; affected infants are relatively normal at birth but develop rising plasma Phe levels with in the first few weeks of life, resulting in impairment of brain development and mental retardation. 1 in 12,000 live births in the U.S.
- Symptoms: May initially see vomiting, irritability, patchy eczema and hypopigmentation.
- Treatment: Screen at birth with ferric chloride or Phenyl Fix Test and start Phe free diet (restriction to 58 mg/kg/d); lifelong restriction is recommended. Hypophenylalaninemia must also be avoided as this may result in malnutrition and cerebral damage also.
GALACTOSEMIA
- General: Lactose in mile is split into glucose and galactose on intestinal mucosa by lactase, galactose is then converted to glucose by 3 enzymes; the most common clincally signifcant form of galactosemia is an autosomal recessive condition resulting from mutations in galactose-1-PO4 uridyl transerase (GALT) with subsequent accumulation of galactose-1-PO4.
- Symptoms: Failure to thrive with vomiting and diarrhea within a few days of milk ingestion; liver, eyes and brain are most severly affected. Early fatty change in liver and hepatomegaly, followed by cirrhosis. Cataract, mental retardation, pseudotumor cerebri may also occur.
- Treatment: Screen at birth for abnormal reducing sugar in urine; removal of dietary galactose for at least the first 2 years of life.
- 2nd type: Galactokinase deficiency+ cataracts develop in early infancy , but liver, kidneys and CNS are not affected.
- Treatment: Exclude galactose in diet, progesterone my decrease cataract formation.
DOWN'S SYNDROME
- General: Trisomy 21; most common autosomal chromosomal abnormality - 1:700 live births. Risk factors include advanced maternal age; most mortality is from cardiac disease. Life span is now into 4th decade.
- Symptoms: Epicanthal folds, simian crease (50%), flat occiput, upslanting palpebral fissures 40% with cardiac anomalies (VSD, AV canal), small stature, leukemia 2%, duodenal atresia (4-7%), atlantoaxial instability (12%), thyroid disease, sterility in males, early Alzheimer's disease
- Diagnosis: Clinical, karyotype confirmation; 95% sporadic, 4% translocation, 1% mosaics
TURNERS SYNDROME (Gonadal Dysgenesis, 45 XO)
- General: 1:2500 newborn girls
- Symptoms: Most spontaneously aborted in early pregnancy (95%), transient lymphedema of feet and hands at birth (80-90%), short webbed neck, short 4th metacarpal, horseshore kidney, coarctation of aorta, short stature, lack of secondary sex characteristics with primary amenorrhea, normal inteligence.
- Diagnosis: Clinically with karytype confirmation, 60% 45XO, 40% mosaic
- Treatment: Correct anomalies, estrogen replacement at puberty, GH therapy, genetic counseling
KLINEFELTER'S SYNDROME (Seminiferous Tubule Dysgenesis, 47XXY)
- General: 1:1000 newborn boys
- Symptoms: #1 cause of hypogonadism in males, infertility, gynecomastia, tall stature, behavior problems, shapely hips
- Diagnosis: Karyotype
- Treatment: Testosterone replacement at puberty
TRISOMY 18
- General: Second most frequent autosomal disorder; 1:5000
- Symptoms: IUGR, micrognathia, clenched hand, overlapping fingers, rocker-bottom feet, VSD, PDA, mental retardation, CNS malformation
- Diagnosis: Clinical and karyotype
- Treatment: Most die within three months
HUNTER'S SYNDROME
Mucopolysaccharides II, X-linked recessive. MPS's accumulate in cells (heparin sulfate, dermatan
sulfate, etc.)
HURLER'S
MPS I, autosomal recessive, leads to progressive disorders characterized by one or more of the
following: coarse facial features, hepatosplenomegaly, corneal clouding, lesions of cardiac valves,
narrowing of coronary arteries, joint stiffness, mental retardation.
FRAGILE X SYNDROME
- General: 1:1000, single most common cause of inherited mental retardation; 40% of all X- linked mental retardation; shows anticipation.
- Symptoms: Prominent ears, long face, MACRO-orchadism, mental retardation, seiqures, hyperactivity, hypermobile joints.
- Diagnosis: Fragile X study: when cells are cultured in medium with deficient folic acid, breaks and gaps near the tip of the long arm of X chromosome develop.
ACHONDROPLASIA
- General: The most common genetic skeletal dysplasia; 1:25,000; autosomal dominant; 80% new mutations
- Symptoms: Short limbs (particularly proximal), low nasal bridge, large head and prominent forehead, small foramen magnum, kyphosus, hydrocephalu, severe otitus media; Heterozygotes have normal longevity, head and body are too large for the markedly shortened extremities, mental, sexual and reproductive development normal. Homozygotes have constricted thoracic cage which causes death soon after birth.
- Treatment: Watch closely for hydrocephalus, treat spinal complications.
GENERAL PEDIATRICS
IMMUNIZATION
| Vaccine | Schedule
| | Hepatitis B | Birth | 2 mo |
| 6 mo. |
|
|
|
| Hib |
| 2 mo | 4 mo | 6 mo | 12-15 mo. |
|
|
| DTP/DTaP |
| 2 mo | 4 mo | 6 mo | 12-15 mo | 4-6yr. |
|
| Polio |
| 2 mo | 4 mo | 6 mo |
| 4-6 yr. |
|
| MMR |
|
|
|
| 12-15 mo. | 4-6 yr. |
|
| Tetanus |
|
|
|
|
|
| 14-16 yrs
|
Varicella
Zoster |
|
|
|
| 12-15 mo. |
| 11-12 yr
21-22 yr.
|
URINARY TRACT INFECTIONS
- General: More common with urinary stasis, structural lesions, reflux, intercouse and pregnancy; incidence is greater in females except for infancy where males predominate. 80% of children with UTI will have a recurrence; renal scarring in 10-15%, 10% of these will have HTN.
- Etiology: Most commonly E. Coli = 90% (out of hospital, only 47% in hospital). Second is proteus mirabilis seen in males or those with renal calculi. Others include Enterobacter, S. Aureus, S. Viridans, and Candida albicans (in immunocompromised or those receiving long term antibiotics). 30-50% of children with UTI have vesicoureteral reflux; recurrent UTI think VUR, UT obstruction, congenital syndrome.
FAILURE TO THRIVE
- General: Organic, non-organic and mixed types: infants and young children whose weight is persistently below the 5th percentile for age in the absence of constitutional delay; generally, the finding of low weight for age alone is indicative of acute malnutrition (wasting), while depressed height for age suggests more chronic malnutrition, the last factor affected is the OFC; greater incidence in families living in poverty (go figure); accounts for 1% of all pediatric hospitalizations; great majority of cases seen in outpatient setting are with organic illness;
- Non-organic: Risk factors:
- 1) difficult sickly child, an isolated, overwhelmed mother, father who is unavailable for support
- 2) disordered feeding situation
- 3) limited interaction during feeding
- 4) social environment of stress or poverty
- Organic: Risk Factors:
- 1) minor congenital anomalies
- 2) prenatal and postnatal malnutrition
- 3) prematurity with complication
- 4) Ongoing medical conditions
- 5) IUGR
- 6) Fetal ETOH
- 7) Fetal hydration syndrome
- 8) material cigarette
- 9) congenital infections
- Direct Organic:Causes = CF, celiac sprue, regional enteritis and other diarrheal causes
CHILD ABUSE
- Suspicious: Recurrent injuries, marks of inflicted injury, injuries atypical of the child's developmental stage, history of events inconsistent with the nature or degree of the injury.
- Specifics: Burns on the butt, cigarette burns, subdural hematoma, retinal hemorrhage, rib fracture (particularly posterior) and spiral fractures of the femur).
OTITIS MEDIA
- General: Most common infection diagnosed in children <15 years old; most occur after viral infection of the upper respiratory
tract; the Eustachian tube in infants is more horizontal, shorter and floppier than in adults and
may collect fluid/bacteria and become inflammed; peak incidence in first three years of life; may be
genetic susceptibility; breast feeding > 3 months is associated with a decreased risk of acute otitis media;
in the first year; incidence increased with daycare attendance and passive smoke inhalation.
- Etiology: Strep Pneumonia, H. Flu, Moraxella Catarrhalis
- Symptoms: Hearing loss, ear pain, fever
- Treatment: Amoxacillin is DOC as it is effective against Strep and H. Flu
VIRAL GASTROENTERITIS (Stomach Virus)
- General: Rotavirus most common, also Norwalk; viral agents do not produce blood or white cells
in stool
- Symptoms: Vomiting, diarrhea, fever;
- Treatment: Supportative, maintain fluid balance
BACTERIAL GASTROENTERITIS
- General:
- Enteroinvasive E. Coli may produce diarrhea that tests positive for occult blood
and or Wrights stain.
- Enterohemmorrhagic E. Coli 0157:H7 may cause bloody diarrhea that produces
Hemolytic Uremic Syndrome (HUS) and Thrombotic Thrombocytopenic purpura (TTP) [HUS occurs in 10% of infections].
- Camplybacter jejuni is most common cause of bacterial enterocolitis in the U.S., highest incidence in first decade of life,
fecal blood and leukocytes and abdominal pain, N/V may last up to three weeks.
- Salmonella typhi -
may cause entereic fever with high spikin fevers for up to 2-3 weeks in untreated, N/V and splenomegaly common,
diarrhea may occur but constipation is commonly seen as well, rose spots (cutaneous vasculitis) seen transiently
over abdomen, chest or extensor surgaces, intestinal perforation and hemorrhage occur in 1-3%.
- Shigella sonnei or flexneri -
typical presentation is abdominal cramps, fever, vomiting, than diarrhea with frequent small volume stools mixed with blood and pus and associated with urgency and tenesmus; children may
develop meningismus and seizures as a aresult of a neurotoxin; a high band count is characteristic.
- Yershinia Enterocolitica - causes diarrhea with RLQ pain in infants and young children and may mimic
appendicitis or Crohn's disease.
- Clostridium Difficile - usually induced by antibiotics which change a patients
intestinal flora and allow the overgrowth of this bacteria and accumulation of its toxin, highest risk with
ampicillin, the cephalosporins and clindamycin.
- Treatment: fluid and electrolyte replacement; antispasmodic and antidiarrheal agents are
contraindicated,
- C jejuni=erythromycin (only for sever cases because decreases symptoms and prolongs shedding)
- Salmonella=for those
< 6 months or other illness or immunodeficiency
- S typhi=all get chloramphenicol
- Shigellos=ampicillin or TMP/SMX
- C. difficile=metronidazole (DOC) or vancomycin (2nd line).
CHRONIC DIARRHEA OF INFANCY
- General: >2 weeks; small infants - intractable diarrhea of infancy, <6 months
diffuse mucosal injury >2 weeks duration with malabsorption and malnutrition (many causes); bloody
diarrhea in infants (may be intractable); cow milk and soy protein intolerance; may develop entercolitis:
manifests in first three months of life with vomiting irritability, poor feeding, diarrhea and blood streaked stools.
most common cause of chronic diarrhea in 6 months. 3 years old most common is IBS.
- Treatment: Remove formula and use casein hydrolysate formula
- DDX: Consider Giardia lamblia, gluten enteropathy, lactose intolerance, Cystic Fibrosis, Irritable Bowel syndrome,
and infectious causes.
POISONINGS
- General:2 peaks: children less than 5 years old and adolescents as a suicide gesture;
OTC and prescriptions account for 45%; 50% involve a cleaning agent, insecticide, toiletries, paints
or paint solvents;
- Treatment: First line of defense is removal of gastric contents. Syrup of Ipecac (10ml in children <1yr; 15ml in >1yr)
yields emesis in 20 minutes; contraindicated in infants <6 months, and those with decreased
level of consciousness or when volatile hydrocarbons or corrosive substances have been ingested (also
not effective for OD with antiemetics or chlorpromazine tranquilizers. Following induced emesis,
activated charcoal may be used to absorb substances. Those specifically NOT absorbed are iron, boric acid,
cyanide, mineral acids, caustics and lithium
- Toxidromes:
- Anticholinergic poisoning: hot as hell, blind as a bat, red as a beet,
dry as a bone, mad as a hatter and limp as linguini
- Cholinergic poisoning: (DUMBBELS) - diarrhea, urination, miosis, bronchorrhea, bradycardia,
emesis, lacrimation, salivation.
- Narcotic poisoning: pinpoint pupils, coma, respiratory depression
- Increased Anion Gap: substances include (AT MUDPILES) Alcohol, toluene, methanol, uremia
DKA, paraldehyde or phenformin, iron ro isoniazide, lactic acidosis, ethylene glycol, salicylates
or strychnine.
Antidotes:
| Acetominophen: | N-acetylcysteine
| | Antidepressants: | bicarbonate
|
| Arsenic, mercury: | dimercaperol (BAL)
|
| Benzodiazepine: | flumazenil
|
| B Blockers: | glucagon
|
| Cyanide: | Lilly cyanide kit, Na Nitrate
|
| Digoxin: | digoxin Fab
|
| Heparin: | protamine sulfate
|
| Iron: | deferoxamine
|
| Lead: | EDTA, dimercaperol
|
| Methemoglobin: | methylene blue
|
| Warfarin: | vitamin K (AquaMephyton)
|
| Narcotics: | naloxone
|
| Organophosphates: | atropine and pralidoxime
|
STRABISMUS
- General: deviation of the eye which the patient cannot overcome. Various forms spoken
of as tropias: cyclotropia, esotropia, exotropia, hyper and hypotropia; misalignment of the
eyes affects about 4% of children less than 6 years old, 30-50% will develope secondary visual loss
or amblyopia; restoration of proper alignment is required to allow development of normal binocular
vision.
AMBLYOPIA
- General: Subnormal visual acuity in one or both eyes despite correction of any significant
refractive error; normally, development of visual acuity proceeds rapidly in infancy and early childhood
and is dependent on formation of clear retinal image; interference with this image can produce sensory
deprivation amblyopia. In children with strabismus there is a tendency to suppress the image of
the deviating eye as a sensory adaptation to avoid diplopia; susceptibility greatest at first months of life
but potential up to age nine. Typically need to correct before age 6 before brainpathways are fixed.
LEUKOKORIA
- General: white pupillary reflex (cat's eye reflex)
- DDX: cataract, persistant hyperplastic vitreus, cicatrical retinopathy of prematurity, retinal
detachment, retinoschisis, larval granulomatosis or retinoblastoma
INTOEING
- Metatarsus adductus deformity - forefoot adduction
Treatment: passively correctable or actively with stretching and stimulation of peroneal
musculature by stoking the lateral border of the foot, also orthosis or corrective shoes and casting.
If persist to >4 years surgical intervention is required.
- Internal Tibial Torsion - inward tibia rotation with knee straight forward, but whole foot pointing
inward.
Treatment: No treatment (spontaneous resolution) or night splinting.
- Femoral Anteversion - internal femoral torsion, with internal hip rotation over 80 degrees.
Treatment: None, spontaneous resolution.
- Talipes Equinovarus - Clubfoot; 75% congenital, male:female=2:1, 50% bilateral; medial
dislocation of the talonavicular joint.
Treatment: Nonoperative = taping, malleable splints, serial plaster casts. Failure
to achieve correction by 3 months is indication for surgery. Surgical correction is complete soft tissue
release between 6 and 12 months with satifactory results in 90%.
CONGENITAL HIP DISLOCATION (CHD)
- General: Hip subluxation or dislocation. Risk factors include family history, breech babies.
- Symptoms: Hip click, stiffness, bunching of stoft tissues over shortened thigh (different skin folds on legs), Trendelenburg
test (when full weight is born by afftected leg, nomal side hip drops down), Allis or Blaeazzi's sign (knee is lower on affected side when knees
and hips flexed with patient supine)
- Diagnosis: via reduction (Ortolani) by grasping lower limb with fingers extended over
greater trochanter and simultaneously lifting and abducting and dislocating (Barlow) by pressing down and
adducting.
- Treatment: Double diaper, Paulick harness;
SEPTIC HIP (Septic Arthritis)
- General: Staph Aureus most common. Infants up to 1-2 years=H Flu. Gonnorrhea in young sexually active
patients. Pneumonia, OM, Pharyngitis or skin infections have all been associated with subsequent
septic arthritis. May also see pneumococcus and salmonella (particularly in the context of sickle
cell disease).
TRANSIENT SYNOVITIS (Toxic Synovitis)
- General: Most common cause of non traumatic limp in children. Self-limited; occurs between ages of 2-12 years,
most commonly male ages 5-10; antecedent history of mild viral respiratory illness; see gradual onset of unilateral
liimp, usually afebrile, no tenderness, warmth or swelling, but discomfort to extension, internal rotation and abduction of hip.
CBC and ESR are normal.
- Treatment: Bed rest and analgesics for 3-5 days.
LEGG-CALVE-PERTHES DISEASE
- General: Hip necrosis disorder; osteochondritis deformans. Bilateral in 10-18%
- Symptoms: Hip or knee pain and intermittent limp with insidious onset
- Pathology: 1:18,000; femoral head avascular necrosis, typically in children 5-10yrs;
caucasian male:female 5:1;
- Risks: low birth weight, constitutional delay, retarded bone growth, transient synovitis,
family history.
- Treatment: Weight bearing only in abduction (casting)with minimalization of weight bearing
over long period while maintaining motion, also surgery.
SLIPPED CAPTIAL FEMORAL EPIPHYSIS
- General: Serious, common condition of obese preadolescence or early adolescence; males 10-17 and females
8-15; bilaterality in 20-30%; male:female 2-4:1, blacks>whites; 80% are slowly progressive, rest are trauma associated
- Diagnosis: on physical exam child is placed supine and with passive flexion at hip, the hip will adduct and rotate
externally instead of flexing in the same neutral plane as the knee.
- Treatement prompt surgical pinning
- Other: Genu valgum (knock kneed) and Genu varum (bowlegs)
SCOLIOSIS
- General: Congenital scoliosis is rare, usually associated with abnormalities of the
vertebrae (eg: hemivertebrae, laminal agenesis); orthopedic consultation is required.
PITYRIASIS ROSEA
- General: Occurs in children and young adults (viral etiology suspected but unproven;
herald patch precedes subsequent lesions which tend to be distributed along the riblines
(or dermatomes); herald patch preceds others by several days, is usually larger and coral pink-light red and surrounded
by collar of fine white scales; usually asymptomatic, but may be itchy; persists for 4-6 weeks
ACNE (Vulgaris)
- General: Comedomes, nodules, papules, pustules and cysts.
- Pathology: follicle plugging and inflammation, androgenic influence;
Proprionibacterium acne and certain rich foods may contribute;
- Treatment: washing affected area 2X/day, benzoyl peroxide, topical and oral
antibiotics (tetracycline), topical retinoids (retin A) and isoretinoin (accutane).
Patient Care
UMBILICAL HERNIA
- General: Faulty closure of the umbilicus during obliteration of the umbilical
vessels, possibly familial; usually spontaneous closure by age 3; incidence 1-10% in whites
and up to 80% in blacks.
- Symptoms: Usually asymptomatic during first years of life, in older children may be
painful and digestive disturbances, soft tissue swelling covered by skin that protrudes
while crying or straining.
- Treatment: Because of possible incarceration, surgical repaire is indicated for
all children over 3 years old.
IMPETIGO
- General: Bacterial skin infection
- Symptoms: Yellow crusted lesion on nose/mouth, caused by staph or group A strep.
- Treatment: Mupirocin (bactroban) ointment or Augmentin.
DERMATOPHYTES
- General: Tinea Pedis, Tinea Capitis - keratinized skin infection by fungus.
- Symptoms: Capitis may present as broken or hairless patch, pedis as toe web
scaling, cracking or vesicles.
- Diagnosis: Via KOH prep.
- Treatment: Topical antifungal for tinea coporis; tinea captis and pedis may require
systemic therapy.
MOLLUSCUM CONTAGIOSUM
- General: common self-limited disease caused by pox-virus, transmitted by direct
contact
- Symptoms: Firm puritic, pink to skin colored, umbilicated papules .2-2 cm,
seen typically on the trunk or anogenital area; cheesy material may be expressed from center.
- Treatment: May be removed with small curette, cauterized with TCA or cryotherapy
applied, also may allow for spontaneous resolution.
GINGIVOSTOMATITITS
- Related syndromes: Acute herpetic gingivostomatitis, catarrhal or ulcerative stomatitis, and
Vincent's stomatitis.
- General: Primary infection of HSV; probably most common cause of stomatitis in
children ages 1-3; can also occur in older children and adults.
- Symptoms: Mouth pain, salivation, fetor ovis, refusal to eat, initial lesion
is vesicle, ruptures and leaves ulcer (2-10 mm), lasts 4-9 days, fever >40 celsuis, (rare cause
can be cyclic neutropenia).
EPITAXIS
- General: Intranasal vessel hemmorhage, anterior bleed from trauma or low humidity, usually unilateral from an ethmoid artery feeder. Kiesselbach's or Little's plexus - most frequent site of bleeding. Posterior bleed usually bilateral with coughing, choking on bleed. Bleeding usually from sphenopalatine artery.
- Treatment: Anterior: pressure and packing, silver nitrate and/or cautery. Posterior: pack/balloon, artery ligation.
Hematology
IRON DEFICIENCY ANEMIA
- General: Most common anemia; almost always due to blood losss; causes include GI bleed, menstrual loss, pregnancy, diagnsotic venipunctures, soft tissue bleeding after surgery.
- Symptoms: Fatigue, palpations, dizziness, dyspnea, headaches and pica. Angular stomatitis, glossitis, thinning, flattening, or spooning (koilonychia) of the nails in advanced cases.
- Diagnosis: Anisocytosis (increased RDW), Decreased MCV/MCHC, central red pallor, thrombocytosis, serum ferritin (<12 ug/dl), serum iron <60, TIBC >360.
- Treatment: Find cause and correct and iron daily for 6-12 months, will see reticulocytes peak @ 5-10 days, increased hemoglobin over 1-2 months.
BETA THALASSEMIA
- General: Mendelian disorder characterized by lack of or decreased synthesis of B-globin chain of hemoglobin A (alpha2, beta2). Free alpha chians form highly variable and unstable aggregates that damage cell membranes. Cause loss of K+ and impaired DNA synthesis, cause destruction of RBC precursors in marrow (ineffective erythropoesis) and hemolysis of the abnormal RBC's in the spleen (hemolytic state). All these interactions result in chronic anemia causing compensatory expansions of the erythropoetic marrow which encroaches upon cortical bone causing skeletal abnormalities in growing children. Also induces excess absorption of dietary iron and repeated transfusions may cause iron overload (hemochromatosis).
- Types:
- B primary thalassemia: Total absence of B-globin chains in teh homozygous state.
- B+ thalassemia: Reduced (but detectable) B-globin sythesis in the homozygous state.
B THALASSEMIA MAJOR:
- General: (Homozygous) Severe transfusion dependent anemia, hemoglobin between 3-6 gm/dl, severe microcytosis, hypochromia and cell fragmentation. Large amount of HbF.
- Symptoms: Cyanosis, malaise, giddiness, altered mental status, LOC, coma, death. Normal at birth (due to large amount of HbF), but by 6-9 months have severe anemia, poor growth, FTT, hepatosplenomegaly, gross deformaties and compression fractures. Unless supported with transfusions, death will result from profound anemia. In multiply transfused hemachromatosis cardiac failure may be induced.
- Treatment: Transfusion, splenectomy (pneumovax first), iron chelation.
B THALASSEMIA MINOR
- General: One normal gene in the heterozygote, usually asymptomatic, more common than major.
- Symptoms: Mild hypochromic microcytic anemia, rare splenomegaly, increased Hb A2 to 4-8%, may mimic the hypochromic microcytic anemia of iron deficiency.
- Treatment: None required.
SICKEL CELL DISEASE (Drepanocytic Anemia)
- General: Hemolytic anemia with RBC assuming characteristic sickle cell shape (drepanocytes) due to abnormal B globin subunit (substitution of valine for glutamic acid at the 6th position from the N-terminus). Roughly 8% of American blacks are heterozygous for the trait.
- Pathology: Polymerization of hemoglobin leading to "gel state" when in deoxy conformation.
- Symptoms: Hb 6.5-10 gm/dl, reticulocytes 10-25%, mild jaundice, increased indirect bilirubin. Acute, painful vaso-occlusive crisis may be precipitated by infection, dehydration, acidosis, hypoxia, CVA, seizures, pulmonary infarction, priapism, aplastic crisis with parvovirus B19 infection, acute splenic sequestration crisis, aseptic necrosis of hip, splenomegaly eventuates to autosplenectomy.
- Diagnosis: Via SS prep (sodium metabisulfate will induce sickling) or HB electrophoresis.
- Treatment: Large amount of hypotonic alkaline IV fluids, analgesisc/narcotics, antibiotics when necessary, O2.
SPHEROCYTOSIS
- General: About 75% are autosomal dominant. Defect in RBC membrane that renders RBC's more spheroidal, less deformable, osmotically fragile, and vulnerable to splenic sequestration and destruction.
- Symptoms: Anemia, jaundice, splenomegaly, hemolysis of all ages of RBC's, worsens with some infections (mono) and with intense physical activities.
- Crisis: Hemolytic, aplastic with Parvovirus B19, megaloblastic, gallstones, gout and ankle ulcers.
- Diagnosis: Reticulocytosis, microspherocytosis, incubated osmotic fragility test.
- Treatment: Splenectomy for anemia, deferred until age 6-7 years because of sepsis potential. Will need a pneumovax before splenectomy.
IDIOPATHIC THROMBOCYTOPENIC PURPURA
- General: Immunologically mediated destruction of platelets. Two forms are: 1) Acute ITP - self limited, seen most often in children with viral infection. Formation of Ag-Ab compex that is adsorbed onto platelets causing their destruction. 2) Chronic ITP - destruction of platelets due to presence of autoantibodies direced against 2 platelet membrane glycoprotein complexes IIb/IIIa and Ib/IX. Destruction of ab coated platelets occurs in the spleen. Most often occurs in adults, particularly females of childbearing age.
- Diagnosis: Clinical petechial hemorrhages, thrombocytopenia, increased megakaryocytes in marrow, prolonged bleeding time.
- Treatment: Splenectomy beneficial in 75-85%.
ISOIMMUNE NEONATAL THROMBOCYTOPENIA
- General: Like hemolytic reaction in erythroblastosis fetalis. A PLa1 negative mother (specific platelet antigen) carrying an Ag positive fetus develops IgG against PLa1 which crosses placenta and causes thrombocytopenia in the newborn.
HEMOPHILIA "A"
- General: Factor VIII deficiency, X linked recessive. Level of factor VIII correlates with bleeding frequency.
- Symptoms: Spontaneous hematomas, hemarthrosis, massive hemmorhage from trauma without echymoses and/or petechiae.
- Diagnosis: Factor VIII level <5% and usually <1% of normal, normal PT and bleeding time, abnormal PTT and factor VIII assay.
- Treatment: Physical activity counseling, factor VIII cryoprecipitate or lysphilized concentrate (significant risk of hepatitis transmission).
VON WILLEBRAND'S DISEASE
- General: The most common hereditary bleeding disorder, autosomal dominant.
- Pathology: Decreased quantity of cirulating vWF (the plasma protein necessary for adhesion of platelets to subendothelial collagen), vWF also acts as carrier for factor VIII and consequently factor VIII may be reduced as well.
- Symptoms: Spontaneous bleeding from mucosal membranes, epistaxis, easy bruising, post op/dental procedure bleeding risk.
- Diagnosis: Via low factor VIII-AHF and long bleeding time.
- Treatment: Cryoprecipitate, DDAVP (desmopressin) which induces endothelial release of stored vWF.
Immunology and Allergy
HYPOGAMMAGLOBULINEMIA
- General: Bruton's X-linked agammaglobulinemia. B cells absent or low, recurrent pyogenic infections (particularly of encapsulated organs), significantly decreased Ig, btk gene mutations (Bruton's tyrosine kinase).
SEVERE COMBINED IMMUNODEFICIENCY
- General: Most common immunodeficiency <1 yo. 1:70,000.
- Diagnosis: 2 unusually severe common infections (RSV, Adeno, etc), diarrhea, candidiasis, dermatitis (GVH from maternal lymphocytes). Male:female 3:1, X-linked type has absence of IL-2 receptor at Xq21 (about 60%). Autosomal Recessive type has ADA deficiency (20%) which may be amenable to gene therapy. HLA class II deficiency also noted.
- Treatment: BM transplant with 75-80% success.
JUVENILE RHEUMATOID ARTHRITIS
- General: Most common childhood rheumatic disorder, peak age 1-2 years old.
- Symptoms: Asymmetric joint pain, tenderness and swelling >6 weeks duration, fever, morning stiffness.
- Diagnosis: Via increased sedimentation rate, RF usually negative, ANA often positive.
- Pathology: Autoimmune induced synovitis.
- Systemic - "Still's Disease", acute onset with fever, leukocytosis, splenomegaly, arthritis and evanescent skin rash, may also see pericarditis and uveitis.
- Polyarticular - 5 or more joints affected.
- Pauciarticular - 4 or fewer (most frequent type).
- Treatment: NSAIDS, antimalarials, GCC's.
ALLERGIC RHINITIS
- General: Seasonal or continuous eye, nose, throat symptoms.
- Symptoms: Itchy nose/eyes, rhinitis, dry cough and sneezing
- Diagnosis: Allergy testing, nasal smear for eosinophils.
- Pathology: High IgE levels, sensitization to allergies with hyperactive histamines (and other cytokines)releasing and causing a cytophilic reaction.
- Treatment: Avoidance, desensitization, antihistamines, nasal corticosteroids and/or cromolyn.
ATOPIC DERMATITIS
- General: Epidermal and dermal inflammation .
- Symptoms: Pruritis.
- Diagnosis:Family history, xerosis.
- Pathology: Hypersensitivity reaction, unknown etiology.
- Treatment: Topical steroids, skin hydration.
Infectious Disease
MENINGITIS
- General: Brain, spinal cord and leptomeningeal inflammation.
- Symptoms: Fever, nuchal rigidity, headache and vomiting. Brudzinski's sign - cervical motion while patient supine elicits pain and causes patient to flex at hip and knees. Kernigs Sign - painful hamstring stretch.
- Diagnosis: CSF, bacteria (decreased glucose, increased protein), virus (normal glucose, slightly elevated protein).
- Pathology: Up to one month old (E. coli and group B strep); one month to six years (H. flu type B, S. pneumo, Neisseria meningitides); older than 6 (s. pneumonia and Neisseria meningitides.
INFECTIOUS MONONUCLEOSIS
- General: EBV infection, remains latent in B lymphocytes and may reactivate in immunocompromised states.
- Symptoms: Fever, malaise, fatigue, sore throat, pharyngitis, cervical adenitis, splenomegaly, lymphocytosis with atypical lymphs, elevated liver enzymes and rarely hepatitis.
- Complications: Nasopharyngeal airway obstruction, aseptic meningitis, and encephalitis. EBV is associated with B Cell lymphoma's in renal or bone marrow transplant recipients (especially those treated with cyclosporin A) and AIDS patients. Burkitts lymphoma with common 14:8 translocation occurs in children in AFrica and New Guinnea (98% of the lymphoma's carry multiple copies of the EBV gene). Nasopharyngeal carcinoma has high incidence in Chinese and Eskimos (100% of NPC cells carry copies of the EBV genome).
- Diagnosis: "Monospot" slide test with >95% sensitivity and specificity (but much less sensitive in infants an dchildren <5 years old). Anti-viral capsid antigen (anti-VCA) IgM, single serum during acute illness, >97% sensitivity and specificity. Anti-VCA IgG requires 2 serum specimens.
MENINGOCOCCEMIA (meningococcal sepsis)
- General: Most common bacterial cause of fever and petechiae.
- Symptoms: URI followed by spiking fever, chills, and arthralgias. Meningitis occurs in 50-70% of patients with meningococcemia, 75% have petechial rash. Shock, DIC, acidosis and death within 12-24 hours may occur with extensive DIC and purpura fulminans. There may be a loss of hands, feet and other tissues due to emboli. Recurrent episodes of meningococceal or gonococcal infections should prompt search for deficiency of late complement components C6, C7 and C8.
TOXIC SHOCK SYNDROME
- General: Classically occurs in females at the time of menses, but may occur from any Staph aureus infection if the strain elaborates the TSST-1 Toxin. The toxin may induce the release of TNF and IL-1.
- Symptoms: Temp >38.9, diffuse macular erythrodermal desquamation of palsm and soles 1-2 seeks after onset.
- Diagnosis: Hypotension and 3 or more of the following clinch diagnosis: Vomiting, diarrhea, severe myalgia or CPK level at least 2X normal; vaginal, oropharyngeal or conjuctival hyperemia, BUN or Creatinine >2X normal, sterile pyuria, LFT's >2X normal, thrombocytopenia, disorientation or altered LOC.
ROCKY MOUNTAIN SPOTTED FEVER
- General: Rickettsia rickettsii is a parasite of ticks (in western US the wood tick Dermacento andersoni and in the eastern the dog tick Dermacentor variabilis. Both are hard ticks). 95% of cases occur from April to September.
- Risk Factors: Residence in a wooded area, dog exposure and male sex.
- Symptoms: incubation of 2-6 days, fever, headache, rash are classic triad (often confused with meningococcemia but slower onset [3 days vs. 24 hours]). Rash appears on 2-3 day of illnesss, begins on wrists and ankles and spreads to trunk. Also occurs on palms and soles. Malaise, myalgias, vomiting, and photophobia also present. History of tick bite obtained in 50-70% of cases.
- Complications: CNS abnormalities, respiratory failure, myocarditis, abdominal pain and diarrhea, renal failure, DIC.
- Diagnosis: Indirect immunofluorescence antibody test, Cold fixation antibodies, Weil-Felix reaction.
- Treatment: Tetracyclines, chloramphenicol or quinolones.
PERTUSSIS
- General: G- coccobacilli, Bordatella pertussis. Cause of "whooping cough". Spring/Summer peaks, 40% of deaths are in those <5 months; 10% of cases and 70% of deaths are in patients <1 year old. Many adult cases missed (thought to be chronic cough). Spread via direct contact and respiratory droplets - highly contagious. Immunization of infants at 2, 4, and 6 months is essential.
- Pathology: Attaches to ciliated respiratory epithelium. Releases three exotoxins:
- Pertussis Toxin - lymphocytosis promoting factor which increases cAMP, histamine sensitization, lymphocytosis and increased insulin secretion. 2)
- Adenylate Cyclase Toxin - interferes with chemotaxis and superoxid production by PMN's, activated by calmodulin.
- Tracheal cytotoxin - injures tracheal ciliated cells.
- Clinical Disease Progression:
- Catarrhal Coughing - 1-2 weeks incubation with fever, chills and cough.
- Paroxysmal Coughing - 2-4 weeks, neonatal death phase, profound coughing can tear frenulum, cause subconjuctival hemmorrhage.
- Convelescent Phase - recovery.
- Diagnosis: Nasopharyngeal swab, WBC >30,000/mm3.
- Treatment: Erythromycin.
LYME DISEASE
- General: Borrelia burgorferi. Most commonly reported tick borne illness in the US. Large animal resovoir - tick (Ixodes) transmission to humans.
- Clinical Staging: 1) Erythema chonican migrans (ECM) rash. 2) ECM becomes smaller, aseptic meningitis, bells palsy, peripheral neuropathy, transient heart block, myocarditis, large joint arthritis. 3) Chronic arthritis (particularly in those with HLA-DRZ), encephalopathy.
- Diagnosis: Biopsy leading edge of rash and culture
- Treatment: Doxycycline or tetracycline.
CAT SCRATCH DISEASE
- General: Rochalimaea hensalae. Following cat bite or scratch a regional lymph node (or nodes) becomes enlarged and teh patient may develop low grade fever and malaise. Resolution within a few months is typical.
TOXOCARIASIS
- General: Toxocara canis and cati ascaris. Causes visceral larva migrans.
- Pathology: Ingestion of ova in soil from canine stools, as larva hatch in small intestine they penetrate and enter portal circulation and wander aimlessly from organ t oorgan. Organs most frequently infected include liver, brain and eye. 80% of puppies are infected, 20% of older dogs.
- Symptoms: Peripheral eosinophilia, eosinophilic granulomas, fever, pallor, cough, wheezing, abdominal discomfort, seizures, strabismus, visual loss, hepatomegaly (depends on site of involvement). Children ages 1-4 yo are often more symptomatic.
- Treatment: Self-limiting in most cases. Diethylcarbamazine, thiabendazole. Prevention is key - "deworming" dogs, dont allow children to play in soil where dog feces are present, prevent pica in kids.
RUBEOLA (Measles)
- General: Highly contagious, spreads by air or direct contact.
- Symptoms: Prodrome of conjuctivitis, eyelid swelling, photophobia, fever to 105, hacking cough, rhinitis, malaise. Koplick's spots (small red based leasions with blue white cneters on oral mucosa) appear 1-2 days before rash. Rash lasts about 6 days; red, flat to slightly bumpy (maculopapular), spreads out from forehead to face, neck and torso and hits feet by day 3. Rash disappears insame sequence.
- Complications: Pneumonia, eye damage, myocarditis, encephalitis.
- Treatment: Prevention! Immunize at 12-15 mo and again at 4-6 years. Maternal infection during pregnancy is associated with spontaneous abortion and premature delivery.
RUBELLA (German Measles)
- General:
- Symptoms: Spreading maculopapular rash over face and trunk, fades by day 3. Post auricular node enlargement, low grade fever, upper respiratory symptoms, arthralgias, arthritis, encephalitis, thrombocytopenia.
- Diagnosis: Serology
- Pathology: First trimester infection associated with congenital rubella syndrome (crs) 80% of time; drops to 10% by 14 week gestation. CRS causes PDA, pulmonary valvular stenosis, cataracts, chorioretinitis, glaucoma, sensorineural deafness, hepatosplenomegaly, thrombocytopenia, IUGR, microcephaly, anemia and hydrops fetalis.
- Treatment: None. Prevent by immunization at 12-15 months and again at 4-6 years.
FIFTH DISEASE (Erythema Infectiosum or "slapped cheek disease")
- General: Parvovirus B19. School outbreaks are comon in spring and early summer. 50% of adults have evidence of past infection.
- Symptoms: 5th disease - acute febrile dz, self limited. Rash erupts on face and in a lace-like pattern on extremities. Adrenopathy, arthralgias and arthritis is seen mainly in adults. Transient Aplastic Crisis - seen in individuals with anemias and hemaglobinopathies 1 week after onset of viremia. Reticulocytopenia and decreased hemaglobin for 7-10 days. Fetal Infection (Non immune hydrops fetalis) - spontaneous abortion or hydrops fetalis result. Arthropathy - immune complex deposition in joints.
- Diagnosis: Serology, PCR.
- Treatment: Supportative, transfusions, IVIG for transient aplastic crisis.
ROSEOLA (Exanthem Subitum)
- General:
- Symptoms: Fever X 4-5 days then rash; self limited. Occurs in first few years of liffe. Rash is maculopapular and may be light pink. HSV VI is the cause.
STREP THROAT
- General: Streptococcal pharyngitis may be followed by development of scarletina (scarlet fever) due to production of erythrogenic toxin by certain strains of strep which have been lysogenized. Beta-hemolytic group A strep rash begins on trunk and neck and then spreads to extremities, sparing the face. The skin may peel off in fine scales during healing.
SCALDED SKIN SYNDROME (Toxic Epidermal Necrolysis)
- General: Caused by staph infection in which exfoliative toxin is produced. Skin becomes extremely painlful, and large patches of necrotic epidermis slide off underlying layer with the slightest pressure. Occurs mainly in children (Lyell's Disease). A neonatal form of the same condition is called Ritter's Disease.
Nephrology
NEPHRITIC SYNDROME
- Oliguria, mild proteinuria, hematuria, mild edema, azotemia, HTN, hyperkalemia and RBC casts. Example: Post streptococcus Glomerulonephritis (GN).
NEPHROTIC SYNDROME
- Proteinuria >3.5g/24hr, hypoalbumenemia, hyperlipidemia, edema. Complications include thrombosis and infection. Example: Membranous GN (adults) and minimal change disease (children).
DIFFUSE PROLIFERATIVE GN
- Hematuria, edema, HTN due to post strep. Good prognosis.
MESANGIOCAPILLARY GN
- Young adults, idiopathic. Poor prognosis
FOCAL SEGMENTAL GN
- Aggressive variant of minimal change disease
GOODPASTUrES (cross basement membrane antibodies)
- Linear deposits, epitaxis, pulmonary hemmorhage, hematuria, proteinuria, IgG with or without C3. Antibodies attack Type IV collagen found in glomerular and pulmonary basement membranes. Most often in young males. Poor prognosis; renal failure in one year.
BERGER'S (IgA NEPHROPATHY)
- May follow respiratory or gut infection. Mild proteinuria, hematuria, hypertension common; 30% go on to renal failure. Male>>female. Excess production of IgA which deposits in mesangium along with C3.
SLE NEPHRITIS
- Immunofluorescence staining for C1q shows granular depostis on capillary loops (subepithelial and subendothelial "fingerprinting").
ACUTE CRESCENTERIC GN
DIFFUSE GLOMERULOSCLEROSIS
- Diabetic nephropathy; Kimmelsteil-wilson nodules with "fibrin caps" and hyalinization.
HENLOCH-SCHONLEIN PURPURA
- General:Systematic vasculitis affecting skin, joints, intestine and kidneys mainly affecting children.
- Symptoms: include hematuria, proteinuria, acute renal faiulre, nephrotic syndrome, mesangial proliferation, epithelial crescents, IgA deposition in mesangium.
- Prognosis: 20% go on to develop chronic renal disease.
ALPORT'S SYNDROME (Heriditary Nephritis)
- General: Autosomal dominant with variable penetrance. More common in males. Attacks sensorineural components of eyes and ears.
- Symptoms: Hematuria, red cell casts, pyuria, proteinuria, progressive renal failure (variable). Sensorineural hearing loss, keratoconus, lenticonus, megalocornea, spherophakia and macrothrombocytopenia.
MINIMAL CHANGE DISEASE (lipiod nephrosis)
- General:Selective protenuria (high transferrin:IgG ratio). Most common nephrotic syndrome in children. Cortical tubular cell lipid globules seen. No immune complexes seen. Typically good prognosis.
- Pathology: Fusion of foot processes of podocytes by EM.
- Treatment: Prednisone (if refractory add cyclophosphanomide).
MEMBRANOUS GN
- General: Male:femal 2:1. Most common nephrotic syndrome in young adults - mean age is 35 yo. Non selective proteinuria. Hypertension found in 1/3. Immunofluorescence shows diffuse granular deposits. Light microscope shows thickening of Glomerular BM. Subepithelial deposits (dense deposits) of IgG and C3; "spikes". 85% antigens unknown. Mixed prognosis.
MEMBRANOPROLIFERATIVE (Mesangiocapillary GN)
- General: Types I and II; >incidence in females. 50% HTN, 50% renal failure, 30% hematuria. Decreased serum C3. Mesangial cells may expand into and split GBM.
- Type I: Deposit disease - granular IgG and C3 SUBENDOTHELIAL deposits.
- Type II: Dense deposits - "tram track" appearance of C3 INTRAMEMBRANOUS deposits. Poor prognosis.
FOCAL SEGMENTAL GLOMERULOSCLEROSIS (FSGS)
- T cells release factors which decrease GBM negative charge. Proteinuria is non-selective. Second most common adult nephrotic syndrome. IgM and C3 deposits, segmental sclerosis and resistant to prednisone. Poor prognosis.
DIFFUSE PROLIFERATIVE
- Nephritic/Nephrotic syndromes oftent due to SLE or post strep infection. Proliferation of mesangium and epithelium. SUBEPITHELIAL deposits "spike and dome". Good prognosis.
RAPIDLY PROGRESSIVE
- Aggressive variant of other GN. 70% or > of glomeruli show crescents. Renal failure - oliguria and uremia. Often part of post strep or Goodpastures syndrome.
ACUTE POST-STREP PROLIFERATIVE GN
- Group A, Beta-Hemolytic strep infection of pharynx or skin precedes teh GN by 1-3 weeks. SUBEPITHELIAL "bumps" of IgG and C3. Nephritic presentation.
Neurology
FEBRILE SEIZURES
- General: - Seizures in child 3 months to 5 years in association with fever and infection. Occur most commonly during the onset of fever. Must rule out meningitis and septicemia.
- Symptoms: - Short tonic-clonic seizure without focal features and without neurological sequelae.
- Pathology - unknown.
- Treatment - Temperature reduction and diazepam (0.2mg/kg PR or IV).
DUCHENE MUSCULAR DYSTROPHY
- Types:
- Duchene X-linked recessive. Progressive muscle weakness and atrophy, pseudohypertrophy of calves.
- Becker X-linked recessive. Dystrophin mutation. Milder, later onset, slwoer progression.
- Myotonic - autosomal dominant, chromosome 19, cods for myotonin-protein kinase.
- Symptoms: Include percussion myotonia, thinning face muscles, facial and extremity weakness, cataracts, frontal balding, gonadal atrophym, cardiac involvement, decreased plasma IgG, EMG shows a decremetnal pattern and irregular after potentials, sudden death.
- Pathology: Defect is in dystrophin protein which usually stabilizes myocyte membranes.
- Diagnosis: Family history, muscle biopsy, elevated CK. Onset in childhood (4-5 years), death in 2nd decade. Also watch for cardiac involvement.
MYELODYSPLASIA
- General: Normal to increased marrow cellularity (clonal) and ineffective erthropoeisis. Tendency to transform into AML within 6-18 months. Peripheral smear shows pancytopenia. Blood and marrow show megaloblastoid erythroid precursors, hypogranular erythroid precursors, increased proportions of blast cells in marrow, microcmegakaryocytes, agranular platelets and unilobed or bilobed neutrophils.
CEREBRAL PALSY (Static Encephalopathy)
- General - Incidence 2:1000; nonprogressive disorder of posture and movement; also associated with abnormalities of speech, vision and intellect. The initial lesion may be related to congenital, genetic or developmental disorders. Intraparenchymal hemorrhage, ischemic infarct, ulegyria, TORCH, status marmoratus, intrapartum asphyxia (only 7-10%) or kernicterus. Usually greater motor dysfunction with kernicterus than intellectual impairment; hearing loss, visual, and auditory perceptual deficits occur with or without classical motor deficits. Most common type = spastic CP of hemiplegic variety presenting with hyperreflexia, seizures and hemiplegia; also quadraplegic, diplegic and athetoid.
MENTAL RETARDATION
- General: 3% of live births; male:female = 15:1; intelligence quotient (IQ) of 70 or below with impaired adaptive skills; Essence of its evolution: hereditary, embryonic, perinatial, acdquired and environmental (deprivation).
- Treatment Attend to concomittant mental disroders (30%-70%), psychotherapy, socialization training, remediation, tutoring, and family counseling.
- Other Of the three percent of US population that is mentally retarded, 10% are severe (<50), while 90% are mild (between 50 and 70).
INFANTILE BOTULISM
- General: Ingestion of foods (ie: honey with spores) contaminated with clostridium botulinum; the spores germinate and c. botulinum colonizes the infants intestinal tract, from that site they release botulism toxin (blocks release of acetylcholine from presynaptic terminal); the infant is typically constipated for 2-3 days followed by difficulty swallowing and muscle weakness, the baby becomes "floppy" but usually does not require intubation, merely hospitalization and supportative treatment.
- Treatment: Prognosis is usually excellent with supportative treatment. Antibiotics are not part of treatment of an uncomplicated course because the toxin is primarily an intracellular molecule that is released into the intestinal lumen with vegetative bacterial cell death and lysis.
TUBEROUS SCLEROSIS
- General: Autosomal dominant (50% of which are spontaneous new mutations). Sclerotic tubers scattered throughout the brain; also affects eyes, skin, kidneys, bones, heart, and lungs.
- Signs/Symptoms: Hypopigmented white-leaf macules on arms, legs, and trunk; seizures in infancy, severe mental retardation, retinal phakomas, 6% will develop giant cell astrocytomas; also skin lesions (adenoma sebaceum [red or brown nodules in butterfly distribution over malar surface]) appear after 2 years old.
HODGKINS DISEASE
- General: Malignant lymphoma of unknown etiology; male > female.
- Signs/Symptoms Painless, lymphadenopathy: cervical, axillary, inguinal; CXR shows mediastinal mass, fever sometimes cyclic (Pel-Ebstein fever), night sweats, pruritis, 10% weight loss in 6 months, SVC obstruction, spinal cord compression, occassional hepatic or splenic enlargement; metastasize in predicatable, linear pattern (eg node to node).
- Subtypes: lymphocyte predominant, noduclar sclerosis, mixed cellularity, lymphocyte depleted.
- Diagnosis: CBC, BM aspirate, LFT's, CT scan of abdomen and chest, pathognomonic Reed-Sternberg Giant cells (large bilobed cell with prominent eosinophilic nucleoli).
- Staging: I - Single lymph node, II - >1 node on same side of diaphragm, III - spleen and nodes, both sides of diaphragm, IV - liver or marrow.
- Treatment Radiotherapy, MOPP (nitrogen mustard, vincristine, procarbazine, prednisone).
WILMS TUMOR
- General: Usually diagnosed between 2 and 5 years, survival rate greater than 90%. Also known as nephroblastoma, they are soft, frequently large, well circumscribed renal masses that are usually unilateral, not metastatic, and do not cross the midline; anaplasia portends a worse prognosis.
- Malformation Syndromes:
- 1. WAGR syndrome - Wilms tumor, Aniridia, Genital anomalies, mental Retardation); patients with this syndrome have 33% chance of developing Wilms; deletion on chromosome 11.
- 2. Deny's-Drash syndrome - gonadal dysgenesis and nephropathy leading to renal failure; most also develop Wilm's tumor; dominant (-) mutation in the WT-1 gene.
- 3. Beckwith-Weideman syndrome - enlargement of body organs, hemihypertrophy, renal medullary cysts, adrenal cytomegaly and a predisposition to develop Wilm's tumors and other primitive tumors (probably a deletion on chromosome).
NEUROBLASTOMA
- General: Vast majority occur in children <5 years old; arise in the adrenal medulla; depending upon degree of differentiation they are classified as either ganglioneuroblastomas or ganglioneuromas; staged according to metastases pattern: Confined to organ of origin to disseminated metastases (grades I- IV).
- Stage IV's are unique: usually occur in infants/neonates, small adrenal tumor with markedly enlaged liver from extensive liver metastases and tumor nodules within the skin and bone marrow. These infants have >80% 5 year survival with minimal to no Treatment! Stage IV's has only one copy of n-myc which makes it quite tame (the more copies of n-myc the more voracious the tumor.
- Diagnosis: Follow 24 hour Vanillamandelic Acid (VMA)
RETINOBLASTOMA
- General: Most common intraocular tumor of children. Patients usually present at 2 years of age with eye pain and tenderness, poor vision, strabismus and leukocoria. May undergo spontaneous regression. congential or familial, tumerogenesis due to homozygous loss of tumor suppressor Rb gene on chromosome 13.
- Diagnosis: History and true Flexner-Winsteiner rosettes with central lumen; patients with familial retinoblastoma have increased risk of developing osteogenic sarcoma and other soft tissue tumors.
ASTROCYTOMA
- General: Gliomas constitute 60% of all CNS tumors. Most common of all gliomas; most common brain tumor in childhood. Pilocytic astrocytoma occurs in children and young adults, usually in the cerebellum; often cystic with a mural node in the wall of the cyst; Rosenthal fibers and microcysts are often present. Rarely infiltrative and grow very slowly.
MEDULLABLASTOMA
- General: 20% of childhood brain tumors; only in cerebellum (most common posterior fossa tumor in children); located in midline; rapid growth may occlude the flow of CSF leading to hydrocephalus.
- Signs/Symptoms: rapid increase in OFC, split sutures, bulging anterior fontanelle, setting-sun sign, irritability, lethargy, vomiting, 6th nerve palsy, papilladema, long tract signs.
- Treatment:Highly malignant and if untreated prognosis is dismal. However, it is exquisitely radiosensitive and with total excision and radiation, 5 year survival is up to 75%
Pulmonary
CYSTIC FIBROSIS
- General: Autosomal recessive; mutation in gene for cystic fibrosis membrane conductance regulator (CFTR) on chromosome 7; 3 base pair deletion which results in absence of phenylalanine at codon 508 is most common (accounts for 70% in North America). The 12 most common mutations account for 85% of CF. The other 200 or so mutations are called "private mutations". CFTR functions as cAMP activated Cl channel, allowing Cl to be transported to epithelial surface, water passively follows and thus allows hydration fo mucous gel; carrier rate is 1 in 25 in Caucasians. CF occurs in 1:2500 live births.
- Presenting Signs/Symptoms/Complications: recurrent respiratory disease, finger clubbing, FTT, meconium ileus, obstructive jaundice, hyponatremic dehydration, rectal prolapse (from voluminous stool), bronchiolitis, asthma, staphylococcal pneumonia, pseudomonal pneumonia, nasal polyps and sinus disease, meconium plug syndrome, intussusception, Diabetes Mellitus, recurrent pancreatitis, focal biliary cirrhosis, portal hypertension, gallbladder disease, prolonged neonatal jaundice, hyponatremic-hypochloremic alkalosis, heat prostration, fat soluble vitamin deficiency, pseudotumor cerebri, dermatitis related to zinc and fatty acid deficiency, male sterility, decreased female fertility.
- Diagnosis: Sweat chloride test (>60 mEq/L on 2 occassions). Also PCR.
- Treatment: Good nutrition, fat soluble vitamin replacement, pancreatic enzyme supplements, monitor Hb A1C annually, chest PT, DNase, amiloride (retains water on cells surface by blocking Na reabsorption across apical membrane of epithelial cells. Key is recognition and treatment of complications; presently 50% of patients live to 3rd decade.
EPIGLOTTITIS (Supraglottitis)
- General: Life threatening bacterial infection of the epiglottis, aryepiglottis, and arytenoids. Children ages 2-6 years; 75% of cases are caused by H. influenza, other causes include B-hemolytic strep, Staph and pneumococci.
- Symptoms: Usually ill in less than 12 hours with fever >39.5, sore throat, absence of spontaneous cough, drooling, agitation, muffled speech, child may prefer to sit with arms extended behind in a "tripod" position, inspiratory stridor.
- Diagnosis: Generally clinical, "thumbprint like" sign with lateral cervical radiograph, cultures of blood (50%-90% positive), epiglottis (33% positive) obtained ONLY after airway is stabilized.
- Treatment: Secure airway, ceftriaxone 80 mg/kg/d X 7days, then 4 day course of rifampin to patient, contacts < 4 years old, family members, and daycare providers.
CROUP (laryngotracheobronchitis)
- General: Viral origin - parainfluenza 1, 2 or 3 in majority of children age 6 mo to 3 yo. Also influenza and mycoplasma implicated rarely in children > 5 yo; subglottic and tracheal swelling.
- Symptoms: Fever usually < 39, "barking" or "seal-like" cough, fluctuating inspiratory stridor unaffected by posture, increased respiratory effort, occasionally may progress to respiratory failure. >95% of cases will not require hospitalization.
- Diagnosis: Clinical, anteroposterior radiograph will show "steeple sign" as opposed to the "bullet head" appearance of normal trachea.
- Treatment: IV fluids, humidified cooled air and oxygen, racemic epinephrine, helium-oxygen mixtures, short courses steriods (controversial) and intubation (required in <1%).
BACTERIAL TRACHEITIS
- General: RARE! Notable for frequent occurence of cardiac arrest. Children appear gravely ill; occurs from age of a few months to adolescence.
- Symptoms: Similar to cropu but characterized by prominent, copious tracheal secretions. Viral like prodrome for 2-3 days is common. Worsens precipitously in 8-10 hours. Severely toxic appearance with paroxysm of cough. Voice may be hoarse, swallowing unaffected, high fever, stridor is prominent; may be tachypneic, rhonchi are coarse. Trachea, larynx and bronchi can become obstructed from inflammation or wth purulent debris. Adherent pseudomembranes cover inflamed, friable mucosa which can be seen with bronchoscopy.
- Pathogens: Staph, H. flu, Strep and Neisseria species. Toxic shock syndrome has been associated with Staph tracheitis.
- Diagnosis: Gram stain of tracheal secretions (help to guide antimicrobial choice), bronchoscopy proven pseudomembranes and purulent secretions.
- Treatment: Bronchoscopic removal of necrotic debris, possible intubation and mechanical ventilation for extended periods. Vancomycin and ceftriaxone empirically X 14 days.
FOREIGN BODIES
- General: Larynx, trachea and bronchi. May be subtle or obvious. Most commonly occurs in children 3 mo to 6 years (50% < 2 yo), male:female is 2:1. Aspirated items often sphereical (eg: balloons, balls, small toy parts, rattles, pacifiers, hot dogs, peanuts).
- Symptoms/Signs: >50% with bronchial foreign body will lack the supposedly classic triad of wheezing, cough and decreased breath sounds. Cough, dyspnea, stridor, and pain prominent if in larynx; history of wheezing, decreased coughing if in distal airway. Cough in at least 80%. Cyanosis, choking, dyspnea in 25% or fewer.
BRONCHIOLITIS
- General: Usually < 2 yo.
- Symptoms: Respiratory distress with tachypnea, expiratory wheezing, diffuse rales, decreased breath sounds, air trapping and hyperinflation.
- Diagnosis: History and PE, CSR (hyperinflation), RSV culture.
- Pathogenesis: RSV in vast majority; 95% of chidren have at least one infection by 3 yo. Epidemics in temperate climates from Nov-March.
- Treatment: Antibiotics for secondary infections, ribavarin (Virazole) in immunocompromised or complicated cases; oxygen, theophylline and B2 adrenergics also helpful.
PNEUMONIA
- Viral
- Bacterial
- Chlamydial
APNEA
Birth Marks
BLUE NEVUS
- Deep intradermul nevus. Blue color due to optical effect caused by depth of lesion; may be present at birth and develop up to middle life. Occurs on face, arms, wrists, ankles or buttocks; "Beauty Mark". Usually small enough that excision is unnecessary.
GIANT HAIRY NEVUS
- Present at birth, may correspond to a dermatome; if in cosmetically unacceptable location it may be excised by sequentially removing layers. If very large, split skin grafting may be performed.
NEUROFIBROMA
- Hamartoma of neural tissue, usually quite protruding and may even be pedunculated. Some occur as soft subcutaneous jello-like masses which can spread out with many tentacle like growths. Surgical excision is only indicated if it is in an unsitely location, is easily irritated or impedes function.
CAPILLARY HEMANGIOMA (port wine stain)
- Flat and varies in color from pink to bright red. Presents at birth, does not regress with age and does not blanch with pressure. Various treatment modalities exist. Neodynium-Yag laser coagulation (because the lesion consists of a plexus of fine capillaries. Full thickness skin grafting and masking cosmetics may be used to camouflage.
STORK'S BEAK MARK
- If a capillary hemangioma blanches with pressure and is lighter in color, then it is more appropriately called a stork's beak mark and teh parents can be reassured that it will most likely regress and disappear completely within the first year.
STRAWBERRY MARK (nevus vasculosos)
- Deeper capillary plexus, raised and bright or dark red; 75% are in the head region, may be present at birth or more commonly develope during first two months. Premature babies ahve higher incidence. May expand for a time, then most regress - if there is underlying cavernous hemangioma or a-v fistula they tend to persist. All should be allowed ample time for resolution, then if necessary, surgical excision may be performed.
CAVERNOUS HEMANGIOMA
- Empties on pressure and slowly refills. May be present at birth or develop later. Made of venules and vascular sinuses. A few resolve - surgical excision with graft if necessary.
OTHER ASSORTED SKIN LESIONS
- Skin Tags Papillomas, can be anywhere; tie off with sutures.
- Nevus Spilus "Hairless mole", require wide surgical excision.
- Nevus Pilosus "Hairy mole", require wide surgical excision.
- Mongolian Spots Occur over lumbar region, sacrum and buttocks. Resolve spontaneously within first 4 years of life.
Differential Diagnosis Topics
SHORT STATURE
CHRONIC DIARRHEA
VOMITING (by age group)
SPLENOMEGALY
NEUTROPENIA
FEVER OF UNKNOWN ORIGIN
COMA
ATAXIA
CHRONIC COUGH
INSPIRATORY STRIDOR
LYMPHADENOPATHY
RECURRENT INFECTION
CHEST PAIN
HYPERTENSION
ABDOMINAL PAIN
LIMP
HEMATEMESIS
MELENA
PAINFUL TESTICLE