Prep 2020

Question 1

What is sticklers syndrome

Answer 1

Connective tissue disorder, is associated with midfacial hypoplasia; cleft palate; Pierre Robin sequence (PRS - micrognathia, cleft palate, and glossoptosis); hearing loss; and abnormalities of the eye, including high-grade myopia, cataracts, and increased risk for vitreous abnormalities and retinal detachment.

Question 2

Most common genetic syndromes (3) with Pierre Robin Sequence

Answer 2

22q11.2 deletion
Treacher Collins syndrome
Stickler syndrome

Question 3

What is the needed caloric intake for FTT baby?

Answer 3

140kcal/kg/day

standard formula is 20kcal/oz

Question 4

prominent scales on the extensor surfaces of the legs and hyperlinear palms. dry skin unresponsive to emollients

1) diagnosis
2) treatment

Answer 4

Icthyosis Vulgaris

emollient containing an α-hydroxy acid (eg, ammonium lactate)

Question 5

What should you test and treat for if you have culture negative septic arthritis in a kid <4 yrs old?

Answer 5

PCR for Kingella kingae - with amp-sulbactam or any cephalosporin

gram-negative organism of the Neisseriaceae family that may colonize the posterior pharynx of healthy children and be transmitted through close contact. Infections most commonly occur in infants and toddlers, and typically present as arthritis, osteomyelitis, or bacteremia. K kingae arthritis most commonly occurs in the knee, hip, or ankle. Other less common forms of K kingae infection include discitis, endocarditis, meningitis, and pneumonia.

Question 6

What is treacher collins syndrome?

Answer 6

Treacher Collins syndrome is an autosomal dominant disorder; the classic facial dysmorphology is characterized by underdevelopment of the zygomatic bones and mandible, downslanting palpebral fissures, prominent nose, micrognathia and retrognathia, external ear abnormalities, coloboma of the lower eyelid, absence of the lower eyelashes, and anterior hair displacement onto the lateral cheekbones.
Conductive hearing loss caused by underlying hypoplasia of the middle ear cavities and malformation of the ossicles is seen in 40% to 50% of children with Treacher Collins syndrome.

Question 7

Formula for fluid resuscitation in 24hr for burn

Answer 7

Fluid deficit = 4 mL/kg × weight (kg) × body surface area affected (%)

To determine BSA - “rule of 9s”

Abdomen/chest and back, 18% each
Anterior and posterior lower extremities, 9% each
Anterior and posterior upper extremities, 4.5% each
Anterior and posterior head, 4.5% each
Genitals, 1%

Question 8

CGD (chronic granulomatous disease)

• inheritance
• diagnosis
• presentation

Answer 8

• X-linked (some AD)
• flow cytometry of oxidative burst (dihydroxy-rhodamine123 reduction)
• Primary innate immunodeficiency, deficit of neutrophil function (not production) - recurrent abscesses (*Staph aureus), can also present with invasive fungal infections, most typically with Aspergillus.

Question 9

Nevus Sebaceous

• Define
• course

Answer 9

• congenital hamartoma that usually is located on the scalp. It appears as a tan, yellow-brown, orange, or pink hairless plaque with a velvety texture. (benign neoplasm)
• After puberty, there is a small risk of an adnexal tumor or basal cell carcinoma developing within a nevus sebaceous - counsel to monitor for growth within plaque

Question 10

First line meds for HTN in kid

Answer 10

ACE-i, ARB, CCB, Thiazide diuretics

Question 11

How to diagnose WNV?

Answer 11

IgM antibody in the cerebrospinal fluid or blood (serology)

Question 12

Types of meds used for ADHD

Answer 12

• stimulant medications (methylphenidate, amphetamine preparations)
• a selective norepinephrine-reuptake inhibitor (atomoxetine)
• long-acting α-agonists (clonidine, guanfacine)

Question 13

Wolf-Hirschhorn syndrome, what deletion is it?

Answer 13

– 4p- deletion on microarray, high res karyotype, or FISH
unusual facies (Greek warrior” helmet nose, high anterior hairline with prominent glabella, hypertelorism, epicanthus, high-arched eyebrows, downturned mouth, small jaw, and small ears with bilateral ear pits)
prenatal and postnatal growth deficiency
significant developmental delays
hypotonia
hearing loss
antibody deficiencies (69%)
cardiac defects (50%)
urinary tract anomalies (30%)
central nervous system malformations (80%)
epilepsy or electroencephalographic abnormalities

Question 14

Who and When to screen for ROP (retinopathy of prematurity)?

Answer 14

• GA of 30 wks or less
• BW 1,500g
• Screen at 31wks postconceptional age or 4wks post birth (whichever comes 1st)

Question 15

Spasmus Nutans

• triad
• age

Answer 15

• nystagmus (horizontal, dysconjugate, pendular = slow, not fast jerking), torticollis, and head titubation (nodding)
• In first yr of life, but after 6mo of age, resolves in childhood

Question 16

Recurrent afebrile “pneumonia” with pink frothy sputum, diagnosis? workup?

Answer 16

pulmonary hemodsiderosis – usually idiopathic without autoimmune trigger
CBC - anemia

Question 17

What are the types of SMA? (spinal muscle atrophy) inheritance? presentation?

Answer 17

Autosomal Recessive 5q13. Affects anterior horn cells (peripheral nervous system)

hypotonia, weakness, areflexia, and tongue fasciculations in infants and children.

now there’s treatment! gene therapy

(1) Type 1 (infantile-onset) SMA is the most common and has clinical presentation before 6 months of age with a severe course. These infants never attain the ability to sit and have profound hypotonia and weakness with progression to respiratory failure. Without respiratory support, patients die before the age of 2 years.
(2) Type 2 SMA presents between 6 and 18 months of age. Infants attain the ability to sit independently but never walk. Clinically, affected infants have a more intermediate and varied course. In addition to the core features of the disease, a fine tremor (minipolymyoclonus) is evident in the distal limbs. With aggressive supportive care, children with SMA type 2 can survive into their 20s.
(3) Type 3 SMA presents in children and teenagers who have already attained the ability to walk independently. Type 3 SMA presents with frequent falls and difficulty climbing stairs due to proximal muscle weakness. The disease course is more mild, and many affected individuals have a normal life span

Question 18

What is MELAS?

Answer 18

mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes

Question 19

most common way to contract anthrax (cutaneous)?

Answer 19

domestic ungulates (such as cattle, sheep, and goats) and wild herbivores – MC Africa, Asia, SE Australia

Question 20

You recognize severe pulmonary stenosis in newborn, what’s step 1?

Answer 20

STAT cardiac cath for balloon valvulopasty (even takes precedence over prostaglandin infusion)

Question 21

Adrenal mass in neonate - differential? what test to order? Clinical presentation

Answer 21

• adrenal hemorrhage vs. neuroblastoma
• order vanillylmandelic acid and homovanillic acid on spot urine testing to confirm neuroblastoma (catecholamines secreted by neuroblastoma cells)
• Can get both intracranial and abdominal masses - watch for horner’s syndrome

Question 22

how to diagnose homocysteinuria? gene? inheritance?

Answer 22

• elevated total plasma homocysteine level + elevated methionine level on serum amino acid analysis
• Mutation in CBS
• AR

marfanoid habitus (tall stature, pectus excavatum, long limbs, and scoliosis), eye findings (severe myopia and risk of downward ectopia lentis), intellectual disability/developmental delay, and vascular thromboembolic events.

Question 23

Type of cells in:

• Neonatal pustular melanosis
• Erythema toxicum

time frame?

Answer 23

(1) neutrophils + at birth

(2) eosinophils + within 24-48hr of birth

Question 24

Contraindications to breast feeding

• maternal infections (5)
• maternal meds (3)
• infant condition (1)

Answer 24

1. untreated active TB, HIV, human T-cell lymphotropic virus type I or II, untreated brucellosis, and ebola virus
2. illicit drugs, chemotherapy, radioactive medications
3. galactosemia in the infant

Question 25

Primary Ciliary Dyskinesia

• How do you test for it?
• Symptoms Clinically

Answer 25

• exhaled nasal nitric oxide test –> LOW (but also low in CF, so have to rule out CF first). in Age >5yo
• 1) year round, daily, productive cough; 2) year round, daily non-seasonal rhinitis; 3) neonatal respiratory distress in a term infant; and 4) laterality defects (eg, situs inversus totalis)

Question 26

very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency

• inheritance
• signs (testing)

Answer 26

• AR
• hypoketotic hypoglycemia, hepatic dysfunction, elevated creatine kinase, and increased dicarboxylic acids on urine organic acid analysis.