Peds6

Question 1

T/F Postictal state is common in absence seizures

Answer 1

F. If sleepiness occurs after seizure then should consider alternative seizure causes

Question 2

What is the CHARGE syndrome in choanal atresia?

Answer 2

Coloboma, heart defect, atresia of choanae, retardation of growth + development, genitourinary abnormality, ear abnormality/deafness

Question 3

What’s the first thing you do in a case of suspected diaphragmatic hernia?

Answer 3

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.

Question 4

What’s the difference between cephalohematoma vs caput succedaneum?

Answer 4

Cephalohematoma = subperiosteal bleed, doesn’t cross suture lines.

Caput succedaneum = edema/hematoma above the periosteum that crosses the suture lines.

Question 5

Newborn with failure to thrive, jaundice, hypoglycemia, and bilateral cataracts:

Answer 5

Galactose 1 phos uridyl transferase deficiency. Results in galactosemia. Need to eliminate galactose from diet.

Question 6

Rx for pinworm:

Answer 6

Albendazole (NOT ivermectin). Can also use pyrantel pamoate. Household contacts should also be treated.

Question 7

Mullerian duct develops into:

Answer 7

uterus, cervix, and upper third of vagina.

** Genital tubercle becomes external genitalia.

Question 8

Patients with ____ deficiency will have impaired conversion of testosterone to dihydrotestosterone and will initially have female external genitalia and male internal genitalia.

Answer 8

5a-reductase deficiency. At puberty, pt undergo virilization (muscle growth, voice deepening) due to increased levels of testosterone.

Question 9

Most common cardiovascular abnormality in Turner Syndrome?

Answer 9

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.

Question 10

Rx for Tourette Disorder

Answer 10

Risperidone (2nd gen antipsychotics), alpha 2 AR agonist (clonidine, guanfacine) and behavioral therapy

Question 11

Café au lait macules, axillary freckling, and monocular eye proptosis and vision changes in a kid:

Answer 11

NF1 (von recklinghause)

Question 12

Brain tumor associated with NF1:

Answer 12

optic pathway glioma

Question 13

Loss of motor milestones, hypotonia, feeding difficulties, cherry red macula, hepatosplenomegaly, areflexia in a child:

Answer 13

Niemann pick disease (sphingomyelinase deficiency)

Question 14

Anemia, thrombocytopenia, and hepatosplenomegaly in a newborn:

Answer 14

Gaucher disease (glucocerebrosidase deficiency)

Question 15

10 mo old baby with coarse facial features, inguinal hernia, hepatosplenomegaly, and corneal clouding:

Answer 15

Hurler syndrome (mucopolysaccharidosis - lysosomal hydrolase deficiency) due to lysosomal storage disease

Question 16

Loss of motor milestones, hypotonia, feeding difficulties, cherry red macula, and hyperreflexia:

Answer 16

TaySach’s (B-hexosaminidase def)

Question 17

Bilateral upper eyelid retraction, limited upward gaze, pupils nonreactive to light but reactive to accommodation:

Answer 17

Parinaud syndrome (dorsal midbrain syndrome) often due to pineal gland tumor.

• Bilateral upper eyelid retraction = Collier’s sign

Question 18

Hereditary angioedema is due to:

Answer 18

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&raquo_space; ^ bradykinin.

Dx confirmed by complement testing. Depressed C4 due to exaggerated cleavage of C4 by C1 complex.

Question 19

How to treat hereditary angioedema (C1 esterase def)?

Answer 19

Give C1 inhibitor concentrate, bradykinin antagonist (icatibant), or kallikrein inhibitor (ecallantide)

Question 20

Rx for congenital LQTS?

Answer 20

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.

Question 21

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:

Answer 21

McCune Albright syndrome: Precocious puberty due to early activation of hypothalamic-pituitary-gonadal axis. Premature secretion of sex hormones independent of GnRH.

Question 22

Intellectual disability, large birth mark on face, frequent seizures, and visual impairment in a child:

Answer 22

Sturge Weber syndrome