Pediatrics Flash Cards - Case 9 - 2 mo with lethargy

1
Q

Dx? Baby has yet to regain birth weight by 3 weeks of age (D) or continues to lose weight after 10 days of life

A

FTT

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2
Q

An infant is expected to regain its birth weight by?

A

2 weeks

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3
Q

urines and stools per day by days 3-5?

A

3-5 urines and 3-4 stools

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4
Q

urines and stools per day by days 6-7?

A

4-6 urines and 3-6 stools

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5
Q

DDx of enlarged fontanelles?

A

Skeletal d/o (e.g., rickets, OI); Chromosomal abnl (eg Down); Hypothyroidism; Malnutrition; Incr ICP

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6
Q

DDx of small fontanelles?

A

Microcephaly, Craniosynostosis, Hyperthyroidism, nl variant

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7
Q

DDx of bulging fontanelles?

A

Meningitis, Hydrocephalus, SDH, Pb poisoning

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8
Q

Lytes in an infant w/ CAH?

A

low Na+ with High K+

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9
Q

Ornithine transcarbamylase deficiency (OTC): genetics and Dx?

A

X-linked; most common urea cycle d/o. hyperammonemia and elevated urine orotic acid.

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10
Q

Names 6 s/sx of congenital hypothyroidism.

A

feeding problems, contstipation large fontanels, hypotonia, large tongue, coarse cry, coarse fascies, macroglossia, mottled skin and frequently an umbilical hernia

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11
Q

Presentation of infant botulism?

A

presents in the first year w/ hypotonia, lethargy, constipation, weak cry and can eventually -> respiratory failure. Have absent DTRs.

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12
Q

Most dommon urea cycle d/o? Presenting lab values?

A

OTC (ornitihine transcarbamylase) deficiency - >Hyperammonemia and elevated urine orotic acid

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