Peds6 Flashcards
T/F Postictal state is common in absence seizures
F. If sleepiness occurs after seizure then should consider alternative seizure causes
What is the CHARGE syndrome in choanal atresia?
Coloboma, heart defect, atresia of choanae, retardation of growth + development, genitourinary abnormality, ear abnormality/deafness
What’s the first thing you do in a case of suspected diaphragmatic hernia?
Emergency intubation. Don’t use bag valve mask because it could pump air down into GI tract and further compromise pulmonary function.
After airway is secured, put in NG or orogastric tube to provide continuous suction to prevent bowel distension against the lungs.
What’s the difference between cephalohematoma vs caput succedaneum?
Cephalohematoma = subperiosteal bleed, doesn’t cross suture lines.
Caput succedaneum = edema/hematoma above the periosteum that crosses the suture lines.
Newborn with failure to thrive, jaundice, hypoglycemia, and bilateral cataracts:
Galactose 1 phos uridyl transferase deficiency. Results in galactosemia. Need to eliminate galactose from diet.
Rx for pinworm:
Albendazole (NOT ivermectin). Can also use pyrantel pamoate. Household contacts should also be treated.
Mullerian duct develops into:
uterus, cervix, and upper third of vagina.
** Genital tubercle becomes external genitalia.
Patients with ____ deficiency will have impaired conversion of testosterone to dihydrotestosterone and will initially have female external genitalia and male internal genitalia.
5a-reductase deficiency. At puberty, pt undergo virilization (muscle growth, voice deepening) due to increased levels of testosterone.
Most common cardiovascular abnormality in Turner Syndrome?
Turner = 45XO. L sided cardiac abnormalities are most common and include bicuspid aortic valve and coarctation of the aorta. Increased risk for aortic root dilation.
Rx for Tourette Disorder
Risperidone (2nd gen antipsychotics), alpha 2 AR agonist (clonidine, guanfacine) and behavioral therapy
Café au lait macules, axillary freckling, and monocular eye proptosis and vision changes in a kid:
NF1 (von recklinghause)
Brain tumor associated with NF1:
optic pathway glioma
Loss of motor milestones, hypotonia, feeding difficulties, cherry red macula, hepatosplenomegaly, areflexia in a child:
Niemann pick disease (sphingomyelinase deficiency)
Anemia, thrombocytopenia, and hepatosplenomegaly in a newborn:
Gaucher disease (glucocerebrosidase deficiency)
10 mo old baby with coarse facial features, inguinal hernia, hepatosplenomegaly, and corneal clouding:
Hurler syndrome (mucopolysaccharidosis - lysosomal hydrolase deficiency) due to lysosomal storage disease
Loss of motor milestones, hypotonia, feeding difficulties, cherry red macula, and hyperreflexia:
TaySach’s (B-hexosaminidase def)
Bilateral upper eyelid retraction, limited upward gaze, pupils nonreactive to light but reactive to accommodation:
Parinaud syndrome (dorsal midbrain syndrome) often due to pineal gland tumor.
- Bilateral upper eyelid retraction = Collier’s sign
Hereditary angioedema is due to:
C1 inhibitor deficiency/dysfunction. Causes swelling of face and hands/feet without urticaria, laryngeal edema, and colicky abdominal pain/vomiting/diarrhea in times of stress.
C1 inhibitor defect»_space; ^ bradykinin.
Dx confirmed by complement testing. Depressed C4 due to exaggerated cleavage of C4 by C1 complex.
How to treat hereditary angioedema (C1 esterase def)?
Give C1 inhibitor concentrate, bradykinin antagonist (icatibant), or kallikrein inhibitor (ecallantide)
Rx for congenital LQTS?
BB and pacemaker. BB help blunt exertional heart rate and shorten QT interval
Congenital LQTS = Lange Nielsen syndrome
Note: Avoid sotalol (BB that is class III antiarrhythmic) because it prolongs QT interval.
Young Child with large hyperpigmented macules with irregular contours, long bone breaks, axillae with secondary hair, no freckling, breast bud development, and coarse dark pubic hair at pubic junction:
McCune Albright syndrome: Precocious puberty due to early activation of hypothalamic-pituitary-gonadal axis. Premature secretion of sex hormones independent of GnRH.
Intellectual disability, large birth mark on face, frequent seizures, and visual impairment in a child:
Sturge Weber syndrome
