General pediatrics Flashcards
What does VACTERL stand for?
V-vertebral dysgenesis A-anal atresia +/- fistula (imperforate anus) C-cardiac anomalies T-E- Tracheo-Esophagael fistula R-renal anomalies L- Limb anomalies
What are the clinical features of DiGeorge Syndrom
CATCH 22”
C-cyanotic CHD (may account for up to 5% of all cases of CHD)
A-anomalies: craniofacial anomalies typically micrognathia and low set ears
T-thymic hypoplasia “immunodeficiency” recurrent infections
C-cognitive impairment
H-hypoparathyroidism, hypocalcemia
22q11 microdeletions
High risk for psychiatric disorders
What are the clinical characteristics of Prader Willi syndrome?
H3O”: Hypotonia and weakness, Hypogonadism, Obsessive Hyperphagia, Obesity
Short stature, almond-shaped eyes, small hands and feet with tapering of fingers
Development delay (variable) Hypopigmentation, DM II
How do you diagnose Kawasaki disease?
1) fever >38.5 for >/= 5 days
2) bilateral nonexudative conjunctivitis
3) Mucositis (cracked red lips, strawberry tongue)
4) rash- begins during first few days of illness, perineal erythema and desquamation followed by macular morbiliform or targetoid skin lesions
5) extremety changes- last thing to appear are swelling and then desquamation of the hand and feet
6) lymphadenopathy-cervical lymphadenopathy is lease consistent
7) cardiovascular findings-
8) arthritis
THE CLINICAL CRITERIA ARE
fever persisting for at least 5 days and presence of 4 of the 5 principal features
1) changes in extremeties- erythema and edema of hands and feet leading to desquamation of fingertips
2) polymorphous exanthema
3) Bilateral, painless bulbar conjunctival injection without exudate
4) changes in lips and oral cavity: erythema and cracking of lips, strawberry tongue, diffuse injection of oral and pharyngeal mucosae
5) cervical lymphadenopathy (>/= 1.5 cm in diameter), usually unilateral
Treatment for kawaski disease
1) IVIG 2g/kg administered over 8-12 H, should be administered within first 10 days before aneurysms
2) Aspirin 80-100 mg/kg/d (max 4g/d). Continue, decreasing 3-5mg/kg/d per 48h, continue until ESR returns to normal
3) Steroids are not indicated
4) Obtain a baseline echo at diagnosis, repeat at 2 and 6 weeks
5) Postpone live vaccines in children given IVIG for at least 11 months
What are the features seen of babies born with congenital CMV infections?
IUGR Growth retardation Microcephaly Cataracts Seizures Hepatosplenomegally Prolonged neonatal jaundice Purpura at birth
What are the features of cystic fibrosis
Autosomal recessive ( cftr) gene causing dysfunctional chloride channels
Common presenting signs CF PANCREAS -chronic cough -ftt -pancreatic insufficiency -alkalosis and hypotonic dehydration -neonatal intestinal obstruction /nasal polyps -clubbing of fingers and chest radiograph with characteristic feature -rectal prolapse -electrolyte elevation in sweat -sputum with staph or pseudomonas
What is a positive sweat chloride test?
> 60 mEq/L
In patients younger than 18 months, how would the diagnosis of HIV be made?
HIV DNA polymerase chain reaction, not with the ELISA test because of the risk of false negative
