Peds Flashcards
NF 1 vs NF2
Type 1 (von Recklinghausen): chromosome 17 (17 letters in von Recklinghausen). • Café au lait spots, cutaneous neurofibromas (made up of Schwann cells- neural crest origin), pheochromocytomas, Lisch nodule (pigmented iris hamartomas) • Autosomal dominant with variable expressivity
Type 2: NF2 gene on chromosome 22.
• Bilateral acoustic schwannomas, juvenile cataracts, meningiomas, ependymomas
Labs in iron deficiency anemia
Dec ferritin
Inc transferrin
Inc RDW
What type of sepsis is galactosemia associated with?
E. coli
McCune Albright Syndrome
Characterized by precocious puberty, café au lait spots that are large and have irregular borders, and multiple bone defects (polyostotic fibrous dysplasia)
What is the cause of Fanconi anemia?
Defective DNA repair that results in inc chromosomal breakage
What causes non bullous impetigo and what causes bullous impetigo?
Non bullous: GAS and staph
Bullous: staph
Role of vWF
Anchors platelets to endothelial wall- essential for platelet aggregation
What urine test can be done to diagnose celiac disease
Dec D-xylose in urine (due to dec absorption into the blood from the GI tract)
Triad of Alport syndrome
Classic triad: Can’t see, can’t pee, can’t hear a buzzing bee – eye problems, glomerulonephritis, and deafness
hereditary hyperbilirubinemia
Indirect
Direct
Indirect: Gilbert, Crigler Najjar
Direct: Dubin-Johnson, Rotor syndrome
3 pathognomonic facies of Fetal Alcohol Syndrome
- Small palpebral fissures
- Smooth philtrum
- Thin vermilion border
What causes sickle cell crises and how do you treat them?
Intermittent episodes of pain caused by acute vaso-occlusion in the bones
Treat symptomatic pain: NSAIDs and opioids
Female patient with leg pain has increased pain when you press just below the patella
Patellofemoral pain syndrome
- Seen in young athletes, F»M
- Anterior knee pain associated with activity – exacerbated by going up or down stairs
- Patellofemoral compression test: reproduction of pain when the patella is compressed into the trochlear groove
-Tx
• Activity modification
• NSAIDs
• Stretching/strengthening exercises (emphasis on quadriceps)
Patient has tenderness over the tibial tuberosity
• Osgood-Schlatter disease
o Most common in adolescent male athletes
o Tenderness and swelling over the tibial tuberosity
o Traction apophysitis of the tibial tubercle
o XR will show anterior soft tissue swelling, lifting of the tubercle from the shaft, and irregularity or fragmentation of the tubercle
Limp in a child that resolves after 1 month who had negative hip xrays
Transient tenosynovitis: typically follows a viral infection
Patient with fissures at the corner of his mouth, hyperemic tongue, anemia, and seborrheic dermatitis. what vitamin is deficient?
B2 (riboflavin)
Patient has AOM with concurrent conjunctivitis
this is likely caused by H influenza, which is a B lactamase producer and needs to be treated with Augmentin
What should the approach be to treatment of close contacts of confirmed pertussis?
Treatment with macrolide antibiotics regardless of age, immunization status, or symptoms
Neonate presents with drooling, choking, and vomiting with the first feed
Tracheoesophageal abnormality
Clinical test is failure to pass NG tube into stomach
Pinealoma
causes obstructive non-communicating hydrocephalus from aqueductal stenosis (papilledema, headache, and vomiting) and dorsal midbrain syndrome aka Parinaud syndrome (paralysis of vertical gaze, ptosis, and pupillary abnormalities) due to direct compression of the pretectal region of the midbrain (superior colliculi)
Jaundice in a baby of a diabetic mother, what do you suspect?
Polycythemia (due to inc O2 demand in utero)
Which metabolic disorder is a complete contraindication for breastfeeding?
Classic Galactosemia
Initiated soy formula feeds
Congenital GI issues in Down syndrome
Hirschsprung disease
Annular pancreas
Duodenal atresia
An infant with Down Syndrome has not passed meconium 48 hours after birth, what do you suspect?
Hirschsprung disease
congenital megacolon characterized by lack of ganglion cells in distal colon → due to failure of neural crest migration