2 Flashcards
(338 cards)
1
Q
What is fluorosis?
A
Mottled enamel with white patches to brown discoloration and hypoplasia; from high fluoride content of drinking water, swallowed toothpaste, inappropriate fluoride treatment.
2
Q
What are the causes of delayed eruption of primary teeth?
A
Hypopituitarism, hypothyroidism, trisomy 21, rickets.
3
Q
What is the inheritance pattern of cleft lip and palate?
A
Multifactorial inheritance; also autosomal dominant in families (cleft palate). Highest among Asians, lowest among Africans. Special nipple needed for feeding. Increased risk of otitis media, hearing loss, speech problems.
4
Q
What is the most common cause of diarrhea in infancy?
A
Rotavirus
5
Q
What are the common causes of bloody diarrhea?
A
Campylobacter, amoeba (E. histolytica) Shigella, E. Coli, salmonella
6
Q
What are the causes of acute diarrhea in infants?
A
Gastroenteritis, systemic infection, antibiotics.
7
Q
What are the causes of chronic diarrhea?
A
Postinfectious, lactase deficiency, milk or soy intolerance, chronic diarrhea of infancy, celiac disease, cystic fibrosis.
8
Q
What are the causes of acute diarrhea in children?
A
Gastroenteritis or food poisoning, systemic infection, postinfectious lactase deficiency, irritable bowel syndrome, celiac disease; lactose intolerance, giardiasis, inflammatory bowel disease.
9
Q
What are the causes of acute diarrhea in adolescents?
A
Gastroenteritis, food poisoning, systemic infection, irritable bowel syndrome, inflammatory bowel disease, lactose intolerance, Giardiasis, laxative abuse. Major transmission is fecal, oral or by ingestion of food or water.
10
Q
What are the bacterial (inflammatory) causes of acute diarrhea?
A
Campylobacter, Enteroinvasive E. coli, Salmonella, Shigella, Yersinia, Clostridium difficile, E. coli O157:H7.
11
Q
What are the viral causes of acute diarrhea?
A
Rotavirus, enteric adenovirus, astrovirus, calicivirus, Norwalk agent.
12
Q
What are the parasitic causes of acute diarrhea?
A
Giardia lamblia (most common), E. histolytica, Strongyloides, Balantidium coli, Cryptosporidium parvum, Trichuris trichiura
13
Q
What is the management of acute diarrhea?
A
Assess hydration and replace fluid and electrolytes. In severe, bloody diarrhea, determine etiology and provide specific therapy.
14
Q
What labs are used to evaluate acute diarrhea?
A
Stool exam for mucus, blood, leukocytes indicate colitis. Stool cultures done if blood, leukocytes, hemolytic uremic syndrome, immunosuppression. C difficile toxin if recent antibiotics. Ovum/parasites. Immunoassays for viruses.
15
Q
What is the clinical presentation of chronic nonspecific diarrhea?
A
Weight, height, and nutritional status is normal, and there is no fat in stool. Caused by excessive intake of fruit juice, carbonated fluids, and low fat intake.
16
Q
What is the laboratory evaluation of chronic diarrhea?
A
Stool pH, reducing substances, fat, blood, leukocytes, culture, C. difficile toxin, ova, parasites. CBC, differential, ESR, electrolytes, glucose, BUN, cr. Sweat test, 72–hour fecal fat, breath hydrogen. Endoscopy, colonoscopy, biopsy. Gastrin, secretin.
17
Q
What situations are associated with Enteropathogenic E. coli?
A
Nurseries, daycare. Supportive care is usually sufficient; in severe cases, neomycin or colistin.
18
Q
What type of diarrhea is caused by Enterotoxigenic E. coli?
A
Traveler’s diarrhea. Usually supportive care is sufficient; trimethoprim–sulfamethoxazole in severe cases.
19
Q
What type of diarrhea is caused by Enterohemorrhagic E. coli?
A
Hemorrhagic colitis, hemolytic uremic syndrome. Antimicrobial therapy is contraindicated in suspected cases because of increased risk of hemolytic uremic syndrome. Supportive care only.
20
Q
What are the risk factors for Salmonella gastroenteritis?
A
Infected animals (cattle, tortoises, snakes) and contaminated eggs, milk, poultry. Treatment indicated only for patients who are less than 3 months of age, toxic, disseminated disease, or S. typhi.
21
Q
What is the mode of transmission for Shigella?
A
Person–to–person spread, contaminated food. Treatment is trimethoprim/sulfamethoxazole.
22
Q
What is the mode of transmission for Campylobacter gastroenteritis?
A
Person–to–person spread, contaminated food.
23
Q
What is the treatment of severe Campylobacter gastroenteritis?
A
Self–limiting; erythromycin speeds recovery and reduces carrier state; recommended for severe disease or with dysentery.
24
Q
What is the mode of transmission for Yersinia enterocolitica?
A
Pets, contaminated food. Causes arthritis, rash.
25
What is the treatment of Yersinia gastroenteritis?
No antibiotic therapy unless severe; aminoglycosides plus a third–generation cephalosporin for infants
26
What is the risk factor for Clostridium difficile?
History of antibiotic use. Treatment of pseudomembranous colitis is metronidazole or oral vancomycin and discontinuation of other antibiotics.
27
What is the time of onset of Staphylococcus aureus gastroenteritis?
Food poisoning with onset within 12 h of ingestion. Supportive care. Antibiotics are usually not indicated.
28
What are the signs of Entamoeba histolytica infection?
Acute bloody diarrhea. Treatment is metronidazole.
29
What are signs of Giardia infection?
Anorexia, nausea, abdominal distension, watery diarrhea, weight loss. Cysts ingested from contact with infected individual or from contaminated food or water.
30
What is the treatment of giardiasis?
Metronidazole, furazolidone.
31
What is the presentation of Cryptosporidium diarrhea?
Mild diarrhea in immunocompromised infants; severe diarrhea in AIDS patients.
32
What is the treatment of Cryptosporidium diarrhea in AIDS patients?
Raising the CD4 count to normal is the best treatment. Rifabutin may be effective.
33
What is the initial laboratory evaluation for fat malabsorption?
Sudan red stain for fat. Confirm with 72–h fat. Steatorrhea is most common with pancreatic insufficiency. Sweat chloride. Serum trypsinogen is useful screen for cystic fibrosis. Screen for CHO malabsorption by measuring reducing substances (Clinitest).
34
What is the hydrogen breath test?
Breath hydrogen test after a known CHO load, the collected breath hydrogen is analyzed, and malabsorption of the specific CHO is identified. Screen: stool alpha1antitrypsin is a screening test for intestinal protein leakage.
35
What is the differential diagnosis of fat malabsorption?
Giardiasis is the only infection causing chronic malabsorption. HIV or T– or B–cell defects. Small–bowel disease: gluten enteropathy, abetalipoproteinemia. Pancreatic insufficiency: fat malabsorption (cystic fibrosis).
36
What foods cause celiac disease?
Gluten, rye, wheat, barley. Celiac disease appears at 6 months to 2 years of age, and gluten intolerance is permanent.
37
What is the clinical presentation of celiac disease?
Diarrhea, failure to thrive, growth retardation, vomiting. Anorexia, ataxia.
38
What is the presentation of Shwachman–Diamond syndrome?
Pancreatic insufficiency, neutropenia, fat malabsorption.
39
What is intestinal lymphangiectasia?
Leakage of lymph fluid into bowel lumen, steatorrhea, protein–losing enteropathy.
40
What is the presentation of disaccharidase deficiency?
Osmotic diarrhea, acidic stools.
41
What is the presentation of abetalipoproteinemia?
Severe fat malabsorption from birth, acanthocytes, absent plasma cholesterol, triglycerides.
42
What laboratory tests are diagnostic of celiac sprue?
Antiendomysial and antigliadin antibodies; histologic confirmation is mandatory.
43
What is the treatment of celiac sprue?
Strict gluten–free diet. Rye, wheat, barley.
44
What is tracheoesophageal fistula (TEF)?
Most common anatomy is upper esophagus ends in blind pouch and TEF is connected to distal esophagus. H–type is diagnosed later in life with chronic respiratory problems. Half with associated anomalies, such as the VACTERL.
45
What is the clinical presentation of tracheoesophageal fistula in the neonate?
Frothing, bubbling, cough, cyanosis, respiratory distress with feedings; immediate regurgitation and aspiration with first feed.
46
How is tracheoesophageal fistula diagnosed?
Inability to pass nasogastric or orogastric tube. X–ray shows tube coiled and an air–distended stomach. Esophagram with contrast media (or bronchoscopy or endoscopy with methylene blue).
47
What is the VACTERL association?
Nonrandom association of birth defects: Vertebral anomalies. Anal atresia. Cardiac defect. Tracheoesophageal fistula. Renal anomalies. Limb abnormalities.
48
4–month–old with apnea for 20 min after feeds. Spitting up since birth. Fifth percentile for weight. What is the diagnosis?
Gastroesophageal reflux disease.
49
What is gastroesophageal reflux disease?
Insufficient lower esophageal sphincter tone. Symptoms during first few months of life; resolves by 12–24 months of age; chronic in older children.
50
What is the clinical presentation of gastroesophageal reflux disease in infants?
Postprandial regurgitation. Arching, irritability, feeding aversion, failure to thrive. Obstructive apnea, stridor, cough, wheezing.
51
How is gastroesophageal reflux disease diagnosed in children?
Esophageal pH monitoring is best test. Endoscopy shows erosive esophagitis. Radionucleotide scintigraphy (Tc) to document aspiration.
52
What is the treatment of gastroesophageal reflux disease?
Normalize feeding technique, appropriate volume, thicken feeds, upright positioning. H2 antagonist (ranitidine, cimetidine) have best safety. Proton pump inhibitors (omeprazole, lansoprazole, pantoprazole). Fundoplication.
53
What is the differential diagnosis of gastroesophageal reflux disease?
Milk or food allergy, pyloric stenosis, intestinal obstruction, infection, tracheoesophageal fistula, inborn errors of metabolism, increased intracranial pressure.
54
What is the role of prokinetic agents in the treatment of GERD in children?
Prokinetic agents (metoclopramide, bethanechol, erythromycin) have no efficacy in the treatment of GERD in children.
55
3–week–old boy with nonbilious projectile vomiting. Small, olive–sized mass in the abdomen. What is the diagnosis?
Pyloric stenosis.
56
What is the clinical presentation of pyloric stenosis?
Nonbilious, projectile vomiting. More common in Northern European ancestry, first–born males; associated with tracheoesophageal fistula. Infant has an insatiable hunger and desires to feed. Presents 1 wk to 5 mths.
57
What is the presentation of pyloric stenosis?
Mild–to–moderate dehydration, hypochloremic, hypokalemic metabolic alkalosis. Firm, movable, 2–cm, olive–shaped, hard mass in midepigastrium.
58
How is pyloric stenosis diagnosed?
Best test is ultrasound (target–like appearance).
59
What is the treatment of pyloric stenosis?
Rehydration, correction of electrolyte abnormalities. Pylorotomy.
60
What is the presentation of duodenal atresia?
Newborn with bilious vomiting with every feed. Double bubble on abdominal film.
61
What disorders are associated with duodenal atresia?
Half are born premature, down syndrome. Other anomalies include malrotation, esophageal atresia, congenital heart defects, anorectal malformation, renal anomalies
62
What is the clinical presentation of duodenal atresia?
Bilious vomiting (obstruction distal to ampulla) without abdominal distention on the first day of life. Prenatal polyhydramnios. Jaundice.
63
How is duodenal atresia diagnosed?
X–ray shows double bubble with no distal bowel gas. X–ray spine for anomalies; ultrasound for other anomalies.
64
What is the treatment of duodenal atresia?
Nasogastric decompression, intravenous fluids, duodenoduodenostomy
65
What is malrotation?
Incomplete rotation of intestine during fetal development. Superior mesenteric artery acts as axis for rotation. Ladd bands may extend from cecum to right upper quadrant to produce duodenal obstruction.
66
What is the clinical presentation of malrotation?
Acute or chronic obstruction in the first year of life. Bilious emesis, recurrent abdominal pain with vomiting.
67
How is malrotation of the bowel diagnosed?
Barium enema shows malposition of cecum. Upper gastrointestinal series will show malposition of ligament of Treitz. Ultrasound shows inversion; duodenal obstruction with thickened bowel loops to right of spine.
68
What is the presentation of jejunal or ileal atresia?
Presents on the first day of life with bile–stained emesis with abdominal distention. (duodenal atresia does not cause abdominal distention.) Plain films show air–fluid levels.
69
What complication can result if treatment of volvulus is delayed?
Short bowel syndrome.
70
2–year–old boy with painless rectal bleeding. What is the diagnosis?
Meckel diverticulum.
71
What is Meckel diverticulum?
Remnant of embryonic yolk sac; lining of the diverticulum is similar to stomach. Most frequent congenital gastrointestinal anomaly.
72
What is the clinical presentation of Meckel diverticulum?
Acid–secreting mucosa in diverticulum causes intermittent painless rectal bleeding and anemia. Blood loss self–limited. Bowel obstruction (lead point for intussusception) or diverticulitis. May be mistaken for appendicitis.
73
How is Meckel diverticulum diagnosed?
Meckel radionuclide scan (Tc–99m pertechnetate). Treatment is excision.
74
12–month–old child with cramping, colicky abdominal pain for 12 hours. Vomiting, fever. Bloody stool with mucus; tender abdomen. Leukocytosis. What is the diagnosis?
Intussusception
75
What is intussusception?
Telescoping bowel; ileal–colic. Presents at 3 mths to 6 yrs following an adenovirus or rotavirus infection, URI, otitis media. Associated HSP. Occur with a leading point (Meckel, polyp, neurofibroma, hemangioma, malignancy).
76
What is the clinical presentation of intussusception?
Sudden, severe, paroxysmal, colicky abdominal pain; straining with legs flexed. Lethargy, shock, fever. Vomiting, decreased stooling; bloody stool. Mucosal necrosis causes black currant jelly stool. Tender sausage mass RUQ.
77
How is intussusception diagnosed?
Plain film may show a density; free air indicates perforation; contrast shows coiled–spring sign. Air enema is diagnostic and curative. Ultrasound also sensitive.
78
17–year–old girl with chronic, cramping abdominal pain, chronic diarrhea. Occasional blood in stools. Fever, wrist pain. Anemia, elevated sedimentation rate. What is the diagnosis?
Inflammatory bowel disease.
79
What is the clinical presentation of Crohn disease?
Fever, arthritis, weight loss, malaise, growth retardation; abdominal pain; bloody diarrhea. Perianal disease (abscesses and fistulas). Can occur anywhere in gastrointestinal tract. More extraintestinal manifestations than UC.
80
What are the diagnostic findings in Crohn disease?
ESR. Abdominal films show partial small bowel obstruction. String sign on upper GI (narrowed tract). Skip lesions are normal areas between affected areas. Cobblestoning of mucosa. Fistulas on contrast studies. Colonoscopy and biopsy.
81
What is the treatment for Crohn disease?
Steroids, aminosalicylates. Azathioprine and metronidazole for fistulas. Immune suppression (anti–TNF agents including infliximab), antibiotics, hyperalimentation, surgical resection.
82
What are the complications of Crohn disease?
Remissions and exacerbations. Gastrointestinal obstruction. Malabsorption, anemia, weight loss, and growth failure.
83
What is the clinical presentation of ulcerative colitis?
Only the colon. Bloody diarrhea with mucus, abdominal pain, tenesmus. Fever, anemia, hypoalbuminemia. Leukocytosis, tachycardia. Diagnosis of exclusion. Symptoms present for at least 3–4 weeks. Endoscopy with biopsy.
84
What is the treatment for ulcerative colitis?
Aminosalicylates, sulfasalazine, steroids (oral or enemas), anti–TNF agents (infliximab), total colectomy for failure of medical treatment is curative.
85
What are the complications of ulcerative colitis?
Higher risk of colon cancer; toxic megacolon with perforation.
86
What is the treatment of functional constipation?
Relief of impaction with enemas, then stool softeners (mineral oil, lactulose, polyethylene glycol; no stimulant medications).
87
What is Hirschsprung disease?
Absent ganglion cells in colon wall beginning at internal anal sphincter and extending proximally. Most common cause of bowel obstruction in neonates. Symptoms at birth. Suspected in full–term infant with a delayed meconium (\>48 h).
88
How is Hirschsprung disease diagnosed?
Rectal manometry, then rectal suction biopsy.
89
What is the treatment for Hirschsprung disease?
Temporary colostomy and definitive correction at 6–12 months.
90
What is the epidemiology of pediatric urinary tract infection?
Boys have UTI most often in first yr. UTI is more common in boys than in girls until after second yr; girls have first UTI by 5 (peak in infancy and toilet–training). Colonic bacteria (mostly E. coli, then Klebsiella, Proteus; some S. saprophyticus).
91
What are the signs of cystitis?
Dysuria, urgency, frequency, suprapubic pain, incontinence; no fever.
92
What are the signs of pyelonephritis?
Abdominal or flank pain, fever, malaise, nausea, vomiting, diarrhea; nonspecific in infants.
93
What are the risk factors for pyelonephritis?
In females causes include wiping, sexual activity, pregnancy. Males: uncircumcised. Males and females: Vesicoureteral reflux, toilet–training, constipation, anatomic abnormalities.
94
How is pyelonephritis diagnosed?
Urine culture. If toilet–trained, obtain a midstream collection; otherwise, supra–pubic tap or catheterization. Culture is positive if \>100,000 colonies/mL (single pathogen) or if symptomatic with \>10,000 colonies/mL.
95
What is the treatment for pediatric pyelonephritis?
Intravenous antibiotic treatment and total of 14 days of oral antibiotics. Start with intravenous ceftriaxone or ampicillin plus gentamicin.
96
What is the follow–up evaluation after a pediatric urinary tract infection?
Urine culture 1 week after stopping antibiotics to confirm sterility; periodic reassessment for next 1–2 years. Obtain ultrasound with febrile UTI for anatomy, abscess, hydronephrosis.
97
What are the indications for a voiding cystourethrogram (VCUG) in children who have had a urinary tract infection?
All males, all females 5 years old with second UTI.
98
What is vesicoureteral reflux?
Backflow of urine bladder to kidney. Submucosal tunnel between mucosa and detrusor is short. Pyelonephritis, scarring nephropathy may cause HTN, proteinuria, renal insufficiency end–stage renal disease, impaired renal growth.
99
How is vesicoureteral reflux diagnosed?
VCUG for diagnosis and grading. Grade I or II resolves. Grade III–IV resolves by age 6–7 years; grade V rarely resolves.
100
What is the treatment for vesicoureteral reflux?
Continuous prophylaxis with sulfamethoxazole/trimethoprim, trimethoprim alone, or nitrofurantoin in 1/4 to 1/3 dose.
101
What is the clinical presentation of obstructive uropathy?
Hydronephrosis, upper abdominal or flank pain. Pyelonephritis, UTI. Weak urinary stream.
102
What are the most common causes of an abdominal mass in a newborn?
Palpable abdominal mass in a newborn is most commonly caused by hydronephrosis or polycystic kidney disease.
103
What is the presentation of obstructive uropathy?
Walnut–shaped mass (bladder) above pubic symphysis. Caused by posterior urethral valves. Infection, sepsis. Obtain VCUG in congenital hydronephrosis and ureteral dilatation to detect posterior valves. CT for suspected ureteral calculi.
104
What are the causes of obstructive uropathy?
Ureteropelvic junction obstruction most common. Ureterocele is cystic dilatation with obstruction from a pinpoint ureteral orifice is the most common cause of severe obstructive uropathy, mostly boys. Ectopic ureter may cause obstruction.
105
What is the presentation of uterocele?
End–stage renal disease; male with a palpable, distended bladder and weak urinary stream.
106
How is obstructive uropathy diagnosed?
Voiding cystourethrogram.
107
What is the treatment for obstructive uropathy?
Decompress the bladder with a catheter. Antibiotics. Transurethral ablation or vesicostomy.
108
7–year–old boy with Coca–Cola–colored urine, edema, blood pressure of 185/100 mm Hg, sore throat 2 weeks before. What is the diagnosis?
Acute poststreptococcal glomerulonephritis.
109
What is poststreptococcal glomerulonephritis?
Follows infection with group A beta–hemolytic strep of throat or skin. Diffuse mesangial cell proliferation with an increase in mesangial matrix; lumpy–bumpy deposits of immunoglobulin, complement on glomerular basement membrane.
110
What is the clinical presentation of post streptococcal glomerulonephritis?
Patients are 5–12 years old (typical age for strep throat). Occurs 1–2 weeks after strep pharyngitis or 3–6 weeks after impetigo. Asymptomatic microscopic hematuria to acute renal failure.
111
What is the triad of post streptococcal glomerulonephritis?
Edema, hypertension, hematuria (classic triad). There is also malaise, lethargy, fever, abdominal or flank pain
112
How is post streptococcal glomerulonephritis diagnosed?
Urinalysis shows RBCs, RBC casts, protein, polymorphonuclear cells. Positive throat culture or increasing antibody titer to streptococcal antigens; best test is the anti–DNase antigen (streptozyme test).
113
What is the treatment for post–streptococcal glomerulonephritis?
Antibiotics for 10 days (penicillin). Sodium restriction, diuresis. Control hypertension with calcium channel blocker, vasodilator, or angiotensin converting enzyme inhibitor. Complete recovery in 95%.
114
What is IgA nephropathy (Berger disease)?
Gross hematuria in association with upper respiratory infection or gastrointestinal infection. Mild proteinuria, hypertension, normal C3. Most common chronic glomerular disease. Treatment is blood pressure control.
115
8–year–old with deafness. Family history of renal disease in male relatives. Microscopic hematuria. What is the diagnosis?
Alport Syndrome.
116
What is Alport syndrome?
Hereditary nephritis (X–linked dominant); renal biopsy foam cells. Hematuria 1–2 days after upper respiratory infection. Hearing deficits (bilateral sensorineural, never congenital); females have subclinical hearing loss. Extrusion of lens.
117
What is benign familial hematuria?
Autosomal dominant mutation in type IV collagen. Diffuse thinning of glomerular basement membrane. Prognosis is excellent without treatment.
118
What is the most common cause of nephrotic syndrome in adults?
Membranous glomerulopathy.
119
What is the most common cause of chronic glomerulonephritis in older children and young adults?
Membranoproliferative glomerulonephritis.
120
What is Henoch–Schönlein Purpura?
Small vessel vasculitis, which presents with purpuric rash, joint pain, abdominal pain. Resolves spontaneously. Treatment is nonsteroidal antiinflammatory medications, steroids.
121
What is hemolytic uremic syndrome?
Most common cause of ARF in children. Microangiopathic hemolytic anemia, thrombocytopenia, uremia; caused by E. coli 0157:H7 (shiga toxin). Undercooked meat, unpasteurized milk; spinach. Also Shigella, Salmonella, Campylobacter, viruses.
122
What is the pathophysiology of hemolytic uremic syndrome?
Subendothelial and mesangial deposits cause vascular occlusion, glomerular sclerosis, cortical necrosis. Capillary and arteriolar endothelial injury, localized clotting; prothrombotic state.
123
What is the clinical presentation of hemolytic uremic syndrome?
Child less than 4 years old with bloody diarrhea. 5–10 days after infection. There is sudden pallor, irritability, weakness, oliguria; mild renal insufficiency to acute renal failure.
124
What are the laboratory findings in hemolytic uremic syndrome?
Hemoglobin 5–9 mg/dL, helmet cells, burr cells, fragmented cells, moderate reticulocytosis; Coombs negative, low–grade, microscopic hematuria and proteinuria.
125
What is the treatment for hemolytic uremic syndrome?
Treat hypertension; dialysis. No antibiotics. Plasmapheresis or fresh frozen plasma.
126
What is autosomal–recessive type (infantile) polycystic kidney disease?
Enlarged kidneys with many cysts. Interstitial fibrosis and tubular atrophy causes renal failure. Liver disease with bile duct proliferation; hepatic fibrosis.
127
What is the clinical presentation of autosomal recessive polycystic kidney disease?
Bilateral flank masses in neonate or early infancy. Potter sequence may occur. Hypertension, oliguria, acute renal failure, liver disease in newborn period.
128
How is autosomal recessive polycystic kidney disease diagnosed?
Bilateral flank masses in infant with pulmonary hypoplasia. Oliguria and hypertension in newborn. Ultrasound is diagnostic.
129
What is the prognosis for autosomal recessive polycystic kidney disease?
80% 10–year survival, end–stage renal failure. Treatment is dialysis and transplant.
130
What is autosomal–dominant (adult) polycystic kidney disease?
Most common hereditary kidney disease. Both kidneys enlarged with cysts in fourth to fifth decade; ultrasound shows bilateral macrocysts in liver, pancreas, spleen, ovaries; intracranial (Berry) aneurysms; mitral valve prolapse.
131
How is autosomal–dominant polycystic kidney disease diagnosed?
Enlarged kidneys with bilateral macrocysts on ultrasound with affected first–degree relative.
132
What is the treatment for autosomal–dominant polycystic kidney disease?
Control of blood pressure.
133
What conditions are associated with transient proteinuria?
Fever, exercise, dehydration, cold exposure, congestive heart failure, seizures, stress. Orthostatic proteinuria is the most common persistent proteinuria in school–aged children.
134
What conditions are associated with fixed proteinuria?
Glomerular or tubular disorders; suspect a glomerular disorder in any patient with proteinuria of more than 1 g/24 hours or with proteinuria and hypertension, hematuria, or renal dysfunction.
135
5–year–old with periorbital edema, proteinuria, hyperlipidemia, hypoalbuminuria. What is the diagnosis?
Nephrotic syndrome.
136
What is the most common nephrotic syndrome in children?
Steroid–sensitive minimal change disease is the most common nephrotic syndrome seen in children.
137
What are the laboratory abnormalities in nephrotic syndrome?
Proteinuria (\>40 mg/m2/hour), hypoalbuminemia (
138
What is the clinical presentation of minimal change disease?
Edema that is initially around eyes and lower extremities. 2 and 6 years of age after a minor infection. Diarrhea, abdominal pain, anorexia; hypertension, gross hematuria.
139
How is minimal change disease diagnosed?
Urinalysis shows proteinuria. Some with microscopic hematuria. 24–hour urine protein is more than 40 mg/m2/h. Serum creatinine is usually normal. Serum albumin
140
What is the treatment for minimal change disease?
Prednisone. Consider biopsy only if is hematuria, HTN, HF, no response to prednisone. Sodium restriction, 25% albumin infusion, followed by diuretic. Alternatives: cyclophosphamide, cyclosporine, methylprednisolone.
141
What are the complications of minimal change disease?
Infection; immunize against Pneumococcus and Varicella. Most frequent infection is spontaneous bacterial peritonitis (S. pneumoniae). Increased risk of thromboembolism. Majority have repeated relapses; decrease with age.
142
What is the most common disorder of sexual differentiation in boys?
Undescended testes, which is more common in preterm infants. Testes should be descended by 6 months of age or it is likely that the testes will remain undescended. Usually in inguinal canal. Increased malignancy (seminoma). Orchiopexy at 9 mths.
143
What is the most common cause of testicular pain over 12 years of age?
Testicular torsion.
144
What is the clinical presentation of testicular torsion?
Acute pain and swelling; tenderness to palpitation. Doppler color flow ultrasound.
145
What is the treatment for testicular torsion?
Emergent surgery (scrotal orchiopexy); if within 6 hours and less than 360 degree rotation, 90% of testes survive.
146
What is the most common cause of testicular pain 2–11 years of age?
Torsion of appendix testes.
147
What is the clinical presentation of torsion of appendix testes?
Gradual onset, 3–5 mm, tender, inflamed mass at upper pole of testis. Naturally resolves in 3–10 days with analgesia.
148
How is torsion of appendix testes diagnosed?
Blue dot seen through scrotal skin. Perform ultrasound if testicular torsion is a possibility.
149
What is the presentation of epididymitis?
Acute scrotal pain and swelling (rare before puberty).
150
What is the most common cause of acute painful scrotal swelling in a young, sexually active male?
Epididymitis. Urinalysis shows pyuria (can be N. gonorrhoeae [GC] or Chlamydia, but organisms mostly undetermined).
151
What is a varicocele?
Dilatation of pampiniform plexus. Painless, paratesticular bag of worms. Subfertility. Most on left rare less than 10 years of age. Surgery if significant difference in size of testes pain or if contralateral testis is diseased or absent.
152
What is the presentation of testicular tumors?
65% are malignant. Palpable, hand mass that does not transilluminate. Usually painless. Check ultrasound, serum AFP, beta–HCG.
153
What is the treatment for testicular tumors?
Radical orchiectomy
154
What is hypopituitarism?
Deficiency of growth hormone; delay in pubertal; growth impairment. Corrected by growth hormone. Isolated growth–hormone deficiency or multiple pituitary deficiencies. Congenital: autosomal dominant, recessive, or X–linked.
155
What are the causes of acquired hypopituitarism?
Radiation therapy; lesion of hypothalamus, pituitary stalk, or anterior pituitary (craniopharyngioma; other tumors, tuberculosis, sarcoidosis, trauma, anoxia).
156
What is the clinical presentation of congenital hypopituitarism?
Normal size and weight at birth; then severe growth failure in first year. Infants have apnea, hypoglycemic seizures; boys have microphallus. Hypothyroidism and hypoadrenalism may also be present. Dysmorphic features; chubby body.
157
What are the signs of acquired hypopituitarism?
Weight loss, cold sensitivity, stupor. No sexual maturation; amenorrhea. Hypoglycemia, decreased growth, diabetes insipidus. Headache, vomiting, visual changes, decreased school; papilledema, CN palsies.
158
What are the laboratory findings in hypopituitarism?
Low serum insulin–like growth factor–1 and IGF–binding protein–3. Definitive test is growth–hormone stimulation test. Low TSH, adrenocorticotropic hormone, cortisol, DHEAS, gonadotropins, and gonadal steroids.
159
What is the treatment for primary hypopituitarism?
Weekly recombinant growth hormone. Periodic thyroid evaluation and treatment of hypothyroidism.
160
What are the indications for growth hormone?
Growth–hormone deficiency, Turner syndrome, end–stage renal disease before transplant; Prader–Willi syndrome, Intrauterine growth retardation (IUGR).
161
What is the differential diagnosis of tall stature?
Familial tall stature (most common). Excess growth hormone secretion, precocious puberty, Marfan syndrome, hyperthyroidism, XXY, XYY, fragile X syndrome.
162
What is hyperpituitarism?
Adenomas, secrete corticotropin; excessive prolactin (most common) and growth hormone secretion.
163
What are the laboratory findings in hyperpituitarism?
Screen: IGF–1 and IGF–BP3 for growth hormone excess; confirm with a glucose suppression test. MRI pituitary. Chromosomes. Decreased upper– to lower–body segment ratio suggests XXY (Kleinfelter); mental retardation suggests fragile X. Thyroid tests.
164
What is the criteria for precocious puberty?
Girls: sexual development occurring before 8 years of age. Boys: sexual development occurring before 9 years of age. Most common etiologies are sporadic and familial (more in girls).
165
What is the clinical presentation of precocious puberty?
Advanced height, weight, and bone age; early epiphyseal closure
166
What is the laboratory evaluation of precocious puberty?
Screening test: increase in leuteinizing hormone. Definitive test with GnRH stimulation test with an excessive leuteinizing hormone response. If positive, an MRI should be done.
167
What are the causes of hypothyroidism in children?
Congenital hypothyroidism: most are primary from thyroid failure. Sporadic or familial. Most common is thyroid dysgenesis in which there is no goiter. Defect in thyroid hormone synthesis causes a goiter; recessive.
168
What is the clinical presentation of congenital hypothyroidism (cretinism)?
Prolonged jaundice, large tongue, umbilical hernia, edema, mental retardation, developmental retardation, wide anterior and posterior fontanels, open mouth, hypotonia.
169
What are the laboratory findings in congenital hypothyroidism?
Low serum T4 or free T4; increased TSH. Treatment is thyroxine replacement
170
What are the causes of acquired hypothyroidism in children?
Hashimoto thyroiditis is the most common cause; may be part of autoimmune polyglandular syndrome. Also with Down, Turner, Klinefelter, congenital rubella syndromes. Medications, irradiation, surgery, radioiodine; cystinosis, histiocytic infiltration.
171
What is the clinical presentation of acquired hypothyroidism?
More girls. Deceleration of growth in adolescence. Myxedema, constipation, cold intolerance, decreased energy, increased sleep, delayed osseous maturation, delayed puberty, headache, visual problems. Diffusely enlarged, firm, nontender.
172
What is autoimmune polyglandular disease type I?
Hypoparathyroidism, Addison disease, mucocutaneous candidiasis, small number with autoimmune thyroiditis.
173
What is autoimmune polyglandular disease type II (Schmidt syndrome)?
Addison disease, plus type 1 diabetes mellitus.
174
12–year–old girl with hyperactivity and declining school performance. Appetite is increased. Tremor of the fingers, exophthalmos, and a neck mass. What is the diagnosis?
Grave disease
175
What is the most common cause of hyperthyroidism?
Most cases of hyperthyroidism are caused by Grave disease. Peak at age 11–15 years; more girls than boys. Family history of autoimmune thyroid disease.
176
What are the clinical findings in Grave disease?
Infiltration of thyroid and retroorbital tissue with lymphocytes and plasma cells; exophthalmos, lymphadenopathy, splenomegaly, thymic hyperplasia. Association with HLA–B8 and DR3.
177
What are the signs of Graves disease?
Emotional lability, motor hyperactivity; decreased school performance, tremor, increased appetite with weight loss, skin flushed with increased sweating, muscle weakness, tachycardia, palpitations, arrhythmias, hypertension; goiter, exophthalmos.
178
What is the presentation of thyroid storm?
Hyperthermia, severe tachycardia, restlessness, delirium, coma, and death
179
What are the laboratory findings in Graves disease?
Increased T4, T3, free T4, decreased TSH, thyroid receptor stimulating antibody; thyroid peroxidase antibodies.
180
What is the treatment for Graves disease?
Propylthiouracil or methimazole; beta blockers for acute symptoms. If medical treatment is not adequate, radioablation or surgery; then daily thyroxine replacement.
181
What are the causes of hypoparathyroidism?
Parathyroid hormone deficiency caused by parathyroid aplasia or hypoplasia; usually with DiGeorge or velocardiofacial syndrome. Postsurgical; autoimmune caused by polyglandular disease; idiopathic.
182
What is the clinical presentation of hypoparathyroidism?
Muscle pain or cramps, numbness, tingling. Laryngeal and carpopedal spasm. Seizures. Hypocalcemic seizures in newborn are usually caused by DiGeorge syndrome.
183
What are the laboratory findings in hypoparathyroidism?
Decreased serum calcium (5–7 mg/dL). Increased serum phosphorus (7–12 mg/dL). Normal or low alkaline phosphatase. Low 1,25 [OH]2D3 (calcitriol), normal magnesium, low PTH. Prolongation of QT.
184
What is multiple endocrine neoplasia syndrome type IIA?
Hyperplasia or cancer of thyroid plus adrenal medullary hyperplasia or pheochromocytoma plus parathyroid hyperplasia.
185
What is multiple endocrine neoplasia syndrome type IIB?
MEN IIB (mucosal neuroma syndrome): multiple neuromas plus medullary thyroid cancer plus pheochromocytoma
186
What is the treatment for hypoparathyroidism?
Neonatal tetany is treated with intravenous 10% calcium gluconate and then 1,25 [OH]2D3 (calcitriol). Chronic treatment with vitamin D2 daily elemental calcium. Decrease foods high in phosphorus (milk, eggs, cheese).
187
What are the causes of hypocalcemia?
Hypoparathyroidism. Magnesium deficiency may cause unexplained hypocalcemia. Inorganic phosphorus poisoning. Early in chemotherapy for acute lymphocytic leukemia (ALL).
188
What is 21–hydroxylase deficiency?
Most common type of congenital adrenal hyperplasia. Recessive, salt losing. 17–OH progesterone accumulates. Decreased cortisol causes increased ACTH, which causes adrenal hyperplasia. Shunting to androgens causes masculinization.
189
What are the findings in 21–hydroxylase deficiency?
Weight loss, anorexia, vomiting, dehydration. Weakness, hypotension. Hypoglycemia, hyponatremia, hyperkalemia. Affected females have masculinized external genitalia (internal organs normal). Males are normal at birh.
190
What are the laboratory findings in 21–hydroxylase deficiency?
Increased 17–OH progesterone. Low Na, glucose, high K, acidosis. Low cortisol, increased androstenedione, testosterone in males. Increased plasma renin, decreased aldosterone. Diagnosis by 17–OH progesterone before/after ACTH.
191
What is the treatment for 21 hydroxylase deficiency?
Hydrocortisone. Fludrocortisone if salt losing. Increased doses of hydrocortisone and fludrocortisone during stress. Corrective surgery for females.
192
1–month–old infant with vomiting, severe dehydration. Ambiguous genitalia, hyponatremia. What is the diagnosis?
Congenital adrenal hyperplasia.
193
What is 3–beta–hydroxysteroid deficiency
Salt–wasting, male and female pseudohermaphrodites, precocious pubarche; increased 17–OH pregnenolone and DHEA.
194
What is 11–beta–hydroxylase deficiency?
Female pseudohermaphroditism, postnatal virilization, hypertension; increased compound S, DOC, serum androgens, and hypokalemia.
195
What is 17–alpha hydroxyl/17,20 lyase deficiency?
Male pseudohermaphroditism, sexual infantilism, hypertension; increased DOC, 18–OH DOC, 18– OH corticosterone, and 17–alpha–hydroxylated steroids; hypokalemia.
196
What are the causes of Cushing syndrome?
Most common cause is prolonged exogenous glucocorticoid administration. In infants, adrenocortical tumor is the most common cause of Cushing syndrome. Excess ACTH from pituitary adenoma causes Cushing disease.
197
What are the signs of Cushing syndrome?
Moon facies, truncal obesity, impaired growth, striae, delayed puberty, amenorrhea, hyperglycemia; hypertension is common; masculinization, osteoporosis with pathologic fractures.
198
What is the laboratory evaluation of Cushing syndrome?
Dexamethasone–suppression test is best test. Determine cause with CT scan of adrenals and MRI of pituitary for microadenoma.
199
What is the treatment for Cushing syndrome?
Remove tumor; if no response, remove adrenals.
200
What is the cause of type 1 diabetes mellitus?
Autoimmune destruction of islet cells, insulin autoantibodies. Low insulin. Hyperglycemia causes osmotic diuresis; causing glycosuria. Loss of fluid, electrolytes, calories. Lipolysiscauses increased ketones.
201
What is the clinical presentation of diabetic ketoacidosis?
Polyuria, polydipsia, polyphagia, weight loss. 40% initially present with diabetic ketoacidosis.
202
What is the diagnostic criteria for diabetes?
Symptoms and random glucose 200 mg/dL or Fasting blood sugar \>126 mg/dL or 2 hour oral glucose tolerance test glucose \>200 mg/dL.
203
What is diabetic ketoacidosis?
Hyperglycemia, ketonuria, increased anion gap, decreased HCO3, decreased pH, increased serum osmolality.
204
What is the treatment for diabetic ketoacidosis?
Insulin, rehydration. Monitor blood sugar, electrolytes. Sodium is falsely low.
205
What is the presentation of type 2 diabetes?
Most common cause of insulin resistance is obesity. Symptoms more insidious. Excessive weight gain, fatigue. Incidental glycosuria (polydipsia and polyuria are uncommon); acanthosis nigrans.
206
What are the causes of limping in a child?
Trauma is the most common cause. Other causes include neoplasia, infection, arthritis, synovitis
207
What is the most common cause of limping
Developmental dysplasia of the hip.
208
What is the most common cause of limping 4–12 years of age?
Legg–Calve–Perthes disease.
209
What is the most common cause of limping in children older than 12 years?
Slipped capital femoral epiphysis.
210
What is developmental dysplasia of the hip?
General ligamental laxity of the hip joint; family history; more in females, firstborn, breech.
211
What are the physical examination signs of developmental hip dysplasia?
Barlow test will dislocate an unstable hip, easily felt. Ortolani maneuver reduces a recently dislocated hip, but after 2 months, reduction is usually not possible because of soft–tissue contractions.
212
How is congenital hip dysplasia diagnosed?
Dynamic ultrasound of hips is the best test.
213
What is the treatment for congenital hip dysplasia?
Pavlik harness for 1–2 months; surgery, casting.
214
5–year–old boy with a limp, pain is in the anterior thigh. What is the diagnosis?
Legg–Calve–Perthes disease.
215
What is Legg–Calve–Perthes disease?
Idiopathic avascular necrosis of the capital femoral epiphysis in immature, growing child. More in males; 20% bilateral. Legg–Calve–Perthes disease.
216
What is the presentation of Legg–Calve–Perthes disease?
Mild intermittent pain in anterior thigh with painless limp (antalgic gait).
217
How is Legg–Calve–Perthes disease diagnosed?
X–ray shows compression, collapse, and deformity of femoral head.
218
What is the treatment for Legg–Calve–Perthes disease?
Containment of femoral head within acetabulum with orthoses or casting. Abduction stretching exercises.
219
What is the clinical presentation of slipped capital femoral epiphysis?
Sudden–onset of extreme pain; cannot stand or walk; 20% complain of knee pain with decreased hip rotation. Most common adolescent hip disorder.
220
What are the complications of slipped capital femoral epiphysis?
Osteonecrosis (avascular necrosis) and chondrolysis (degeneration of cartilage)
221
How is slipped capital femoral epiphysis diagnosed?
X–ray before the slip demonstrates widening of physis without slippage; as slippage occurs, the femoral neck rotates anteriorly while head remains in the acetabulum (ice–cream cone)
222
What is the treatment for slipped capital femoral epiphysis?
Close the capital femoral epiphysis and placement of pins.
223
What are the causes of transient synovitis?
Viral; 7–14 days after a nonspecific URI at 3–8 years of age. Acute pain with limp and mild restriction of movement. Pain in groin, anterior thigh, and knee. Small effusion, slight increase in ESR.
224
Where does hip pathology refer pain in children?
Hip pathology refers pain to the knee in children.
225
What is metatarsus adductus?
Forefoot is adducted and is flexible to rigid. Most common in firstborn.
226
What is the treatment for metatarsus adductus?
Serial plaster casts before 8 months of age; orthoses, corrective shoes. May need surgery if still significant in a child older than 4 years of age.
227
Newborn with a foot that is smaller than the other foot. Affected foot is medially rotated and very stiff, with medial rotation of the heel. What is the diagnosis?
Talipes equinovarus.
228
What is talipes equinovarus (clubfoot)?
Congenital, positional, or associated with neuromuscular disease. The heel can not be made flat on an examination surface. Hindfoot equinus, hindfoot and midfoot varus, forefoot adduction.
229
What is the treatment for talipes equinovarus?
Complete correction should be achieved by 3 months of age with casting, splints, orthoses, corrective shoes; surgery may be needed.
230
What is the most common cause of intoeing \>2 years of age?
Internal femoral torsion. Most are caused by abnormal sitting habits (W–sitting). The entire leg is rotated inwardly at the hip when walking.
231
What is the treatment for internal femoral torsion?
Observation. Torsion resolves after 1–3 years; surgery only if significant at after the age of 10 years.
232
What is the most common cause of intoeing
Internal tibial torsion caused by in utero positioning; often with metatarsus adductus. Prone thigh and foot angles are increased.
233
What is the treatment for internal tibial torsion?
No treatment is needed. Resolves with normal growth after 6–12 months.
234
What is genu varum?
Bowlegs. Physiologic and caused by torsion in utero; usually improves by 1–2 years of age. May need surgery if persistent
235
What is Genu valgum?
Knock knees from spontaneous correction of physiologic bowlegs; leg–length discrepancy; must be assessed by x–ray. Discrepancies greater than 2 cm at skeletal maturity usually require surgery.
236
What is a Popliteal cyst (Baker cyst)?
Typical in middle childhood; distension of bursa by synovial fluid behind knee; ultrasound for aspiration.
237
What is the treatment of popliteal cyst?
Observe if less than 10 years (resolution over several years); surgery if symptoms or enlargement.
238
What is Osgood–Schlatter disease?
Traction apophysitis of tibial tubercle caused by overuse in an active adolescent. Swelling, tenderness, increased prominence of tubercle.
239
What is the treatment for Osgood–Schlatter disease?
Rest, restriction of activities, knee immobilization, isometric exercises. Complete resolution occurs after 12–24 months.
240
13–year–old girl with asymmetry of the posterior chest wall on bending forward. One shoulder is higher than the other when standing. What is the diagnosis?
Scoliosis
241
What are the causes of scoliosis?
Most are idiopathic; rarely caused by a hemivertebra. A few are congenital. More females than males; more likely to progress in females. Adolescent (\>11 years). Adams test: \>20–degree curvature. X–ray of entire spine.
242
What is the treatment for scoliosis?
Brace immature patients with curves less than 40 degrees. Surgery for children with more than 45 degrees of curvature (permanent internal fixation rods).
243
What is Torticollis?
Twisted neck caused by sternocleidomastoid contracture. Head tipped to one side, chin rotates to other side. Caused by in utero positioning, labor trauma. Trauma, inflammation, CNS neoplasms.
244
What is the treatment for torticollis?
Gentle passive stretching in first few months of life. Surgery should be performed before development of secondary facial asymmetries.
245
What is nursemaid elbow?
Radial head subluxation caused by violent longitudinal traction. History of sudden traction or pulling on arm. Physical exam reveals a child who refuses to bend arm at the elbow.
246
What is the treatment for radial head subluxation?
Rotate hand and forearm to the supinated position with pressure on the radial head to cause reduction.
247
What is the most common cause of osteomyelitis?
S. aureus is most common overall.
248
What are the most common causes of osteomyelitis in the neonate?
Group B streptococcus and Gram negatives.
249
What are the most common causes of osteomyelitis after a puncture wound?
Pseudomonas aeruginosa
250
What is the most common cause of osteomyelitis in sickle cell patients?
Salmonella
251
What is the most common cause of osteomyelitis after septic arthritis?
Almost all S. aureus
252
What is the presentation of osteomyelitis in infants?
Pain with movement. Older children have fever, pain, edema, erythema, warmth, limp, or refusal to walk.
253
How is osteomyelitis diagnosed?
Blood culture, CBC, ESR, C–reactive protein. Plain film helps to exclude trauma, foreign body, tumor; trabecular long bones do not show changes of osteomyelitis for 7–14 days. The best test is MRI, sensitive and specific.
254
What is the indication for bone scan in the evaluation of osteomyelitis?
Bone scan can be useful to augment MRI if multiple foci are suspected.
255
What is the definitive test for osteomyelitis?
Bone biopsy for culture and sensitivity. Septic arthritis is diagnosed with ultrasound guided arthrocentesis for culture and sensitivity.
256
When does the X–ray become abnormal in osteomyelitis?
X–rays for patients with osteomyelitis are initially normal. Changes are not seen until 7–14 days.
257
What is the treatment for osteomyelitis?
Nafcillin or vancomycin to cover for Staphylococcus initially. Septic arthritis requires treatment for 4 weeks. Osteomyelitis requires treatment for 4 to 6 weeks.
258
What is osteogenesis imperfecta?
Susceptibility to fracture of long bones or vertebral compression after mild trauma. Most common genetic cause of osteoporosis. Caused by structural or quantitative defects in type I collagen. Autosomal dominant.
259
What is the triad of osteogenesis imperfecta?
Fragile bones, blue sclera, and early deafness.
260
How is osteogenesis imperfecta diagnosed?
Confirmed by collagen biochemical studies using fibroblasts cultured from a skin biopsy. May be mistaken for child abuse because of multiple fractures.
261
What is the treatment for osteogenesis imperfecta?
No cure; fracture management and correction of deformities.
262
What is the most common malignant bone tumor?
Osteogenic sarcoma is most common bone tumor (if patient is younger than 10 years, Ewing sarcoma more common). Predisposition to osteogenic sarcoma is associated with retinoblastoma, irradiation.
263
How is bone sarcoma diagnosed?
X–ray shows sclerotic destruction; sunburst (osteogenic) versus lytic with laminar periosteal elevation (Ewing). Metastases to lung and bone for both.
264
What is the treatment for bone sarcoma?
Chemotherapy, ablative surgery for osteogenic. Radiation and surgery for Ewing sarcoma.
265
10–year–old girl with pain and swelling of wrist and right knee for 4 months. The pain is worse in the morning and improves throughout the day. Swelling, effusion of knee and decreased range of motion. What is the diagnosis?
Juvenile rheumatoid arthritis.
266
What is juvenile rheumatoid arthritis?
Idiopathic synovitis of peripheral joints with soft–tissue swelling and joint effusion. Vascular endothelial hyperplasia and progressive erosion of articular cartilage and contiguous bone.
267
What is the clinical presentation of juvenile rheumatoid arthritis?
Morning stiffness; easy fatigability; joint pain later in the day, swelling, warm joints with decreased motion; pain on motion, but no redness.
268
What is the criteria for diagnosis of juvenile rheumatoid arthritis?
Age of onset: 6 weeks. Exclusion of other forms of arthritis.
269
What is the differential diagnosis of juvenile rheumatoid arthritis?
Systemic lupus erythematosus, dermatomyositis, sarcoidosis, scleroderma, rheumatic fever, vasculitides, autoimmune hepatitis, Lyme, psoriatic arthritis, arthritis with inflammatory bowel disease, leukemia, lymphoma.
270
What is pauciarticular juvenile rheumatoid arthritis?
Involves fewer than five joints. Joints of lower extremity (not hip or upper extremities).
271
What is polyarticular juvenile rheumatoid arthritis?
Involves five or more joints. Both large and small joints (40 may be involved). Rheumatoid nodules on extensor surfaces of elbows and Achilles tendon. May have cervical spine involvement.
272
What is systemic onset juvenile rheumatoid arthritis?
Arthritis and prominent visceral involvement with hepatosplenomegaly, lymphadenopathy, serositis, iridocyclitis. Daily temperature spikes to at least 39 C for 2 or more weeks. Salmon rash, trunk and proximal extremities.
273
How is juvenile rheumatoid arthritis diagnosed?
Diagnosis of exclusion. Increased acute–phase reactants; anemia chronic disease. ANA in 40–85%. Positive rheumatoid factor with onset of disease in an older child with polyarticular disease and rheumatoid nodules.
274
What is the treatment for juvenile rheumatoid arthritis?
Pauciarticular disease responds to NSAIDs alone. Sulfasalazine, methotrexate are the safest and most efficacious of second–line agents; azathioprine or cyclophosphamide. Corticosteroids for systemic illness.
275
15–year–old girl with fever, fatigue, and joint pains. Rash on the cheeks, swelling of the knee, and pericardial friction rub. Elevated blood urea nitrogen and creatinine. What is the diagnosis?
Systemic lupus erythematosus
276
What is the etiology of lupus?
Autoantibodies against self–antigens; increased anti–double–stranded DNA (anti–dsDNA). Association with HLA B8, DR2, and DR3; some are drug–induced by anticonvulsants, sulfonamides, antiarrhythmics. Exacerbation by sun, infections.
277
What is the clinical presentation of systemic lupus erythematosus?
\>8 yrs of age; females with fever, fatigue, arthralgia, arthritis, rash. Malar rash, discoid rash, serositis. Oral ulcers, photosensitivity, neurologic disorders, hematologic disorders, arthritis, renal disorders. Lupus prep test, anti–DNA, Smith.
278
What are the skin manifestations in systemic lupus erythematosus?
Malar (butterfly) rash, discoid lesions, livedo reticularis; photosensitivity; vasculitic erythematous macules on fingers, palms, and soles; purpura and Raynaud phenomenon
279
What are the renal manifestations of SLE?
Glomerulonephritis, nephrotic syndrome, hypertension, renal failure
280
What are the cardiovascular manifestations of lupus?
Pericarditis, Libman–Sacks endocarditis, cardiomegaly, heart failure.
281
What are the neurologic manifestations of lupus?
Seizures, stroke, aseptic meningitis, chorea, psychiatric changes.
282
What are the pulmonary manifestations of lupus?
Pleuritic pain, pulmonary hemorrhage.
283
What are the hematologic manifestations of lupus?
Coombs–positive hemolytic anemia, anemia of chronic disease, thrombocytopenia, leukopenia.
284
What are the serosal manifestations of lupus?
Serositis: pleural, pericardial, and peritoneal; with hepatosplenomegaly and lymphadenopathy.
285
What are the gastrointestinal manifestations of lupus?
Gastrointestinal vasculitis causes pain, diarrhea, bleeding, hepatitis.
286
What are the vascular signs of lupus?
Arterial and venous thromboses are suggestive of antiphospholipid syndrome (plus recurrent fetal loss, livedo reticularis, Raynaud phenomenon); associated with the lupus anticoagulant.
287
How is systemic lupus erythematosus diagnosed?
Most sensitive screen is ANA. Best test is anti–dsDNA (more specific for lupus and reflects disease activity). Anti–Smith Ab is specific for SLE, but does not measure disease activity.
288
What is the treatment for lupus?
NSAIDs if no renal disease; hydroxychloroquine. Patients with thrombosis and antiphospholipid syndrome should receive anticoagulation (with warfarin heparin during pregnancy). Steroids for acute disease. Cyclophosphamide.
289
3–year–old with fever for 10 days. Conjunctival injection, red tongue and cracked lips, edema of the hands, truncal rash. What is the diagnosis?
Kawasaki disease.
290
What is Kawasaki disease?
Acute vasculitis of blood vessels, mostly medium arteries, especially coronary; occurs worldwide (higher in Asians). Leading cause of acquired heart disease. Without treatment, 20% develop coronary artery abnormalities. 80% under 5 yrs.
291
What is diagnostic criteria for Kawasaki disease?
Fever \>5 days, plus 4 of following: Conjunctivitis. Oral erythema, strawberry tongue, dry, cracked lips. Erythema/swelling of hands, feet; desquamation fingertips. Rash. Lymphadenitis.
292
What are the cardiac findings in Kawasaki disease?
Early myocarditis (50%) with tachycardia and decreased ventricular function; pericarditis; coronary artery aneurysms in the second to third week.
293
What are the lab abnormalities in Kawasaki disease?
WBC is increased; neutrophils and bands. Increased ESR, C–reactive protein at 4–8 weeks. Normocytic anemia. Increased hepatic transaminases, thrombocytosis, Sterile pyuria. Cerebrospinal fluid pleocytosis.
294
How is Kawasaki disease diagnosed?
Most important test is 2D echocardiogram; repeat at 2–3 weeks and at 6–8 weeks. Check ECG and follow platelets.
295
What is the treatment for Kawasaki disease?
Intravenous immunoglobulin (IVIg), high–dose aspirin. Add warfarin if at risk for thrombosis because of very high platelet counts.
296
7–year–old boy with maculopapular lesions on legs, buttocks; abdominal pain. Recently recovered from a viral URI. Complete blood cell count, coagulation studies are normal. Microscopic hematuria. What is the diagnosis?
Henoch–Schönlein purpura.
297
What is Henoch–Schönlein purpura?
IgA–mediated vasculitis of small vessels (IgA and C3 in skin, glomeruli, gastrointestinal); most common cause of nonthrombocytopenic purpura. Follows an upper respiratory infection. 2–8 years of age; in winter, more males than females.
298
What is the clinical presentation of Henoch–Schönlein purpura?
Fever, fatigue. Pink, maculopapular rash below waist; petechiae, purpura. Abdominal pain. Blood stools. Diarrhea or hematemesis. Intussusception. Arthritis large joints. Glomerulonephritis, nephrosis. HSM, lymphadenopathy. Seizures, paresis, coma.
299
What are the laboratory findings in Henoch–Schönlein purpura?
Increased platelets, WBCs, ESR, anemia. Increased IgA, IgM. Anticardiolipin or antiphospholipid antibodies. Urine RBCs, WBCs, casts, albumin.
300
How is Henoch–Schönlein purpura diagnosed?
Definitive diagnosis with skin biopsy (rarely needed). Renal biopsy shows IgA mesangial deposition and occasionally IgM, C3, and fibrin.
301
What is the treatment for Henoch–Schönlein purpura?
Intestinal complications are treated with corticosteroids. If anticardiolipin or anti phospholipid antibodies and/or thrombotic events, give aspirin.
302
What are the complications of Henoch–Schönlein purpura?
Renal insufficiency, bowel perforation, scrotal edema, and testicular torsion; chronic renal insufficiency occurs in
303
What is physiologic anemia of infancy?
Intrauterine hypoxia stimulates erythropoietin. High hemoglobin at birth suppresses erythropoietin, causing a drop in hemoglobin until 8 and 12 weeks in term infants to Hb of 9–11 mg/dL. Exaggerated in preterm with nadir at 3–6 weeks to Hb of 7–9.
304
What is the treatment of physiologic anemia of infancy?
In term infants: no treatment is required; preterm infants usually need transfusions.
305
18–month–old child who still drinks from a bottle, consumes 65 ounces of cow milk per day. Pale. Hb is 6 g/dL and the Hct is 20%. The mean corpuscular volume is 60 mcL. What is the diagnosis?
Iron deficiency anemia
306
What are the causes of iron deficiency anemia?
More efficient iron absorption in proximal intestine in breast–fed versus cow milk or formula. Iron–rich foods are effective in prevention. Infants are anemic at 9–24 mths. Adolescents are susceptible because of growth, dietary deficiencies, menstruation.
307
What is the presentation of iron deficiency anemia?
Pallor, irritability, lethargy, pagophagia, tachycardia, systolic murmurs; neurodevelopmental effects.
308
What are the laboratory findings in iron deficiency anemia?
Decreased ferritin. Decrease in serum iron, transferrin saturation; increased total iron–binding capacity. Microcytosis, hypochromia, poikilocytosis. Decreased MCV, MCHC, increase RDW, nucleated RBCs, low reticulocytes.
309
What is the treatment for iron deficiency anemia?
Oral ferrous salts. Limit milk. Within 72 hours of starting iron supplements there is a peripheral reticulocytosis, increase in hemoglobin over 30 days. Continue iron 8 weeks after blood values normalize; iron repletion requires 3 mth.
310
What are the clinical signs of lead poisoning?
Hyperactivity, aggression in older children. Cognitive dysfunction, impaired growth. Anorexia, pain, vomiting, constipation. Cerebral edema, increased intracranial pressure, causing headache, lethargy, seizure, coma, death.
311
How is lead poisoning diagnosed?
Screening: blood lead at 12 and 24 mth in high–risk, then confirmatory venous blood lead level. X–ray lead lines; radiopaque flecks in intestine (recent). Microcytic, hypochromic anemia, basophilic stippling.
312
What is the treatment of lead poisoning?
Chelation with DMSA (succimer, dimercaptosuccinic acid) or EDTA (versenate, ethylenediaminetetraacetic acid), BAL (dimercaprol).
313
What is congenital pure red–cell anemia (Blackfan–Diamond)?
Increased RBC programmed cell death causes profound anemia by 2–6 months. Congenital anomalies: short stature, craniofacial deformities, defects of upper extremities; triphalangeal thumbs.
314
What are the laboratory findings in Blackfan–Diamond syndrome?
Macrocytosis, increased HbF, increased RBC adenosine deaminase (ADA); very low reticulocyte count, increased serum iron. Marrow with significant decrease in RBC precursors.
315
What is congenital pancytopenia?
Spontaneous chromosomal breaks. Absent/hypoplastic thumbs; Hyperpigmentation and café–au–lait spots; pancytopenia. All cell lines depressed; short stature. Age of onset from infancy to adult.
316
What are the laboratory abnormalities in Fanconi anemia?
Macrocytosis, increased fetal hemoglobin; decreased WBCs and platelets; bone–marrow hypoplasia.
317
How is Fanconi anemia diagnosed?
Bone–marrow aspiration and cytogenetic studies for chromosome breaks
318
What is the treatment for Fanconi anemia?
Corticosteroids, androgens; transfusions and deferoxamine; splenectomy; survival 40 years without stem cell transplant.
319
What is transient erythroblastopenia of childhood?
Severe transient hypoplastic anemia between 3 months and 6 years; caused by transient immune suppression of erythropoiesis after a nonspecific viral infection.
320
What are the laboratory findings in transient erythroblastopenia of childhood?
Decreased reticulocytes and decreased bone–marrow precursors, normal MCV and fetal hemoglobin, normal RBC adenosine deaminase. Recovery within 1–2 months; transfusion may be needed.
321
What is anemia of chronic disease?
Mild decrease in RBC lifespan and relative failure of bone marrow to respond adequately; little or no increase in erythropoietin.
322
What are the laboratory abnormalities in anemia of chronic disease and anemia of renal disease?
Hb 6–9 mg/dL, normochromic, normocytic; reticulocytes are normal or slightly decreased; iron is low without an increase in TIBC; ferritin may be normal or slightly increased. Marrow with normal cells, decreased RBC precursors.
323
What is the treatment for anemia of chronic disease and renal disease?
Treat underlying disease, erythropoietin; rarely transfusions.
324
What is the pathophysiology of the megaloblastic anemia?
RBCs at every stage are larger. Ineffective erythropoiesis. Almost all are caused by folate or vitamin B12 deficiency from malnutrition; uncommon in United States in children.
325
How is megaloblastic anemia diagnosed?
Variations in RBC shape; low reticulocytes; nucleated RBCs; large, hypersegmented neutrophils; increase in LDH; hypercellular bone marrow with megaloblastic changes. Macrocytosis (MCV \>100); hypersegmented neutrophils. Low folate or B12.
326
What are the sources of folic acid?
Green vegetables, fruits, animal organs.
327
What are the signs of folic acid deficiency?
Irritability, failure to thrive, chronic diarrhea; peaks at 4–7 months of age.
328
What are the causes of folic acid deficiency?
Inadequate intake during pregnancy, goat milk feeding, infancy, chronic hemolysis; decreased absorption or congenital defects of folate metabolism. Low serum folate.
329
What are the causes of vitamin B12 deficiency?
Vegans, lack of intrinsic factor (congenital pernicious anemia [rare], autosomal recessive; juvenile pernicious anemia or gastric surgery), impaired absorption because of terminal ileum disease or removal.
330
What are the signs of vitamin B12 deficiency?
Weakness, fatigue, failure to thrive; irritability, pallor, glossitis, diarrhea, vomiting, jaundice, neurologic symptoms. Normal serum folate and decreased vitamin B12.
331
What is hereditary spherocytosis?
Abnormal shape of RBC caused by spectrin deficiency, resulting in decreased deformability and early removal of cells by spleen. Autosomal dominant.
332
What is the clinical presentation of hereditary spherocytosis?
Anemia and hyperbilirubinemia in a newborn. Hypersplenism, biliary gallstones. Susceptible to aplastic crisis with parvovirus B12 infection.
333
What are the laboratory findings in hereditary spherocytosis?
Increased reticulocytes; increased bilirubin; hemoglobin 6–10 mg/dL. Normal MCV; increased mean cell hemoglobin concentration. Smear showing spherocytes is diagnostic
334
How is hereditary spherocytosis diagnosed?
Blood smear, family history, splenomegaly. Confirmation with osmotic fragility test.
335
What is the treatment for hereditary spherocytosis?
Transfusions, splenectomy (after 5–6 years), folate.
336
What is the presentation of pyruvate kinase (glycolytic enzyme) deficiency?
Pallor, jaundice, and splenomegaly. Increased reticulocytes, mild macrocytosis, polychromatophilia.
337
How is pyruvate kinase deficiency diagnosed?
Protein kinase assay shows decreased activity.
338
What is the treatment for pyruvate kinase deficiency?
Exchange transfusion for significant jaundice in neonate; transfusions are rarely needed, splenectomy.
