UWorld III Flashcards
When should straight catheterization be the first option for a urine sample?
If the child is still in diapers. Diapers cause a high likelihood of contamination from stool or skin flora
What are heinz bodies and how are they different from howell-jolly bodies?
Heinz Bodys are precipitated oxidized hemoglobin that result from G6PD-deficiency. (Heinz ketchup is red like hemoglobin)
Howell Jolly bodies are the remnants of erythrocyte nuclei which are normally removed in the spleen. their presence suggests decreased or absent spleen function.
What findings differentiate orbital cellulitis from preseptal cellulitis? What are the most common bacteria involved?
Ophthalmoplegia (Paralysis of muscles around eye, think paraplegia)
Pain with ocular movements
Proptosis
Vision impairment
Staph aureus, strep pneumo, other strep species
Treatment for minimal change disease?
Corticosteroids
Inheritance and gene defect in Marfan syndrome?
Autosomal dominant
Fibrillin-1 gene mutation
What condition is associated with a mutation of the Fibrillin-2 gene? How do patients appear?
Congenital contractural arachnodactyly
Tall stature, arachnodactyly, multiple contractures involving large joints
Differs from Marfan’s by no ocular or cardiovascular problems, and by presence of contractures (not present in marfan’s)
What are the symptoms and hormonal abnormalities in 21-hydroxylase deficiency?
Hormones: Increased 17-hydroxyprogesterone
Increased testosterone
Decreased cortisol and aldosterone
Symptoms: Ambiguous genitalia Salt wasting (vomiting, hypotension, dec Na+, inc K+)
What symptoms differentiate the CAH deficiencies in girls?
Genitalia and electrolytes:
Both abnl: ambiguous genitalia and low Na+ high K+ is 21-hydroxylase deficiency
Half-n-Half: Ambiguous genitalia but normal Na+ and K+ is 11B-hydroxylase deficiency
All “normal”: Phenotypically female (but may be XY) and nl Na+ and K+ is 17a-hydroxylase deficiency
Why does 17a-hydroxylase deficiency cause all patients to be phenotypically female?
Decreased cortisol and testosterone prevents formation of male genitalia
Increased mineralocorticoids and corticosterone allows for proper retention of salts/electrolytes
What are the three types and age of onset of neonatal conjunctivitis?
Chemical: Less than 24 hrs, Tx: eye lubricant
Gonococcal: 2-5 days, Tx: IV/IM Ceftriaxone or cefotaxime
Chlamydial: 5-14 days, Tx: Oral erythromycin
S/sx of G6PD deficiency?
Hypoglycemia leading to seizures
Lactic acidosis (glycogen buildup in liver)
Hyperuricemia
Doll-like face, short stature, thin extremities
Work up of headache in pediatric patients?
Description fits normal headaches/migraines, treat with Ibu and counsel family.
Imaging only if: coordination difficulties, numbness, tinging, focal neurologic signs, headaches that awaken from sleep, increasing frequency of headaches (but not new onset apparently)
Signs of Ebsteins anomaly?
Severe tricuspid regurgitation Right atrial enlargement Tall P waves Right axis deviation Extreme cardiomegaly
Exam and x-ray findings of transposition of the great vessels?
Exam: Single loud S2 (not split)
+/- VSD murmur
X-ray: “Egg-on-a-string” heart (narrowed mediastinum)
Tricuspid atresia vs truncus arteriosus exam and x-ray findings. What differentiates them?
Tricuspid atresia exam: Single S2, VSD murmur
Truncus arteriosus exam: Single S2, Systolic ejection murmur (inc blood through truncal valve)
Atresia x-ray: Minimal pulmonary blood flow
Arteriosus x-ray: Increased pulmonary blood flow, edema
Features of leukocyte adhesion deficiency
Recurrent skin and mucosal bacterial infections
- no pus (lack of neutrophils at infection site)
- Poor wound healing
Delayed umbilical cord separation
Marked peripheral leukocytosis (>50,000) with neutrophilia
S/sx of SCID, and cause
Adenosine deaminase deficiency Deficient formation of mature B and T lymphocytes Severe infections Failure to thrive Marked lymphopenia
Presentation of patients with complement deficiency?
Disseminated bacterial infections, esp w/ encapsulated bacteria (S. pneumo, H. flu, N. meningitidis)
No neutropenia
No cutaneous infections
Cause and presentation of Brutons?
X-linked agammaglobulinemia
Defective B-cell maturation
Recurrent sinopulmonary and GI infections
Low B-cell count and low serum Ig levels
What is congenital muscular torticolis?
A postural deformity in which the SCM contracts and forces the head to turn towards the other direction.
May present with a mass that does not transilluminate on the affected side (the SCM)
What is Lennox-Gastault syndrome?
Intellectual disability
Severe seizures (several types)
Slow-spike wave pattern on EEG
Typically presents by age 5
What bone tumor is found in adolescent males and causes pain relieved by NSAIDs?
Osteoid osteoma
Presentation and biopsy findings of Alport’s syndrome?
Gross hematuria and proteinuria
Mild sensorineural deafness
Electron microscopy shows thinned and thickened areas of capillary loops and splitting of the glomerular basement membrane
What is an endocardial cushion defect?
Another term for ASD
