Pediatrics Flashcards
(245 cards)
Do simple febrile seizures require a workup?
No. patients can be discharged home from the emergency department with reassurance
AR deficiency of phenylalanine hydroxylase?
PKU - build up of phenylalanine. failure to convert phenylalanine to tyrosine
Clinical features of PKU?
intellectual disability, fair complexion, eczema, musty urine and body odor
Diagnosis of PKU?
newborn screening (mass spec) quantitative amino acid analysis
Aldolase B deficiency?
hereditary fructose intolerane
introducing veggies and fruits leads to accumulation of fructose-1-phosphate. affected infants present with vomiting, poor feeds, lethargy
Galactose-1-phosphate uridyl transferase
galactosemia: present with jaundice, hepatomegaly, failure to thrive the first few days after birth. After consumption of breast milk or formula
large fontanelles, failure to thrive, hypotonia?
hypothyroidism
After suspecting Turner syndrome, what should be your first step in completing a diagnosis or in management?
Pelvic ultrasound to evaluate internal female anatomy
First step in evaluation of primary amenorrhea?
Pelvic exam or ultrasound
definition of primary amenorrhea?
absence of menarche by age 15
When should you do a brain MRI in the evaluation of primary amenorrhea?
uterus is present on ultrasound and serum FSH is low or inapp normal. Need to rule in/out pituitary or hypothalamic tumors
why do prolactinomas cause amenorrhea?
they inhibit GnRH release
Gold standard for diagnosis of Turners?
Karyotype
treatment for OCD?
high-dose selective SSRIs and exposure/response prevention based psycotherapy
Fever, pharyngitis, gray vesicles/ulcers on posterior oropharynx?
Herpangina from Coxsackie A virus
How does presentation of herpetic gingivostomatitis and herpangina differ?
herpetic gingivostomatitis would be found on anterior pharynx whereas coxsackie is posterior. herpetic- erythematous gingiva whereas coxsackie is gray vesicles/ulcers. herpes has grouped vesicles not solitary vesicles.
most common congenital cyanotic heart defect to present in neonatal period
transposition of great vessels
how does transposition of great vessels present?
First few hours of life with cyanosis and a single, loud, second heart sound.
“egg on a string” heart
findings on x-ray for transposition of great vessel
Harsh pulmonic stenosis murmur and a VSD murmur are found in what congenital heart defect?
Tet of Fallot.
“Boot shaped” heart due to RVH is seen in?
Tet of Fallot
Single S2 heart sound, VSD murmur and minimal blood flow in pulmonary artery?
Tricuspid atresia
If transposition of great vessels is suspected, what should you give right away?
prostaglandins to keep ductus arteriosus patent to optimize inter-circulatory mixing. also obtain an Echo.
What do ASD, dextrocardia, PDA and VSD have in common?
All acyanotic congenital heart diseases