ODOQuiz - One Day One Question

31 August 2025

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1 ) Identify the clinical clues?

Developmental delay + alopecia, skin changes

2) Mention at least three DDs?

i) Angelman Syndrome: Developmental delay, intellectual disability, ataxia, and a happy demeanor.
ii) Cornelia de Lange Syndrome: growth restriction, limb abnormalities, distinctive facial features, and developmental delay. Hypertrichosis (excessive hair growth) is a classic feature, and hair may be sparse in other areas.
iii) Phenylketonuria (PKU): fair skin, and light hair

3) How do you confirm the dx?

Atopic or seborrheic dermatitis, candidiasis, alopecia, ataxia, seizures (usually myoclonic), hypotonia, developmental delay, optic nerve atrophy, sensorineural hearing loss, and immunodeficiency resulting from impaired T-cell function may occur. Check serum biotidinase level.

4) What is the pathophysiology?

Biotinidase deficiency is a genetic disorder where the body cannot recycle the vitamin biotin from food items.