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Case Reports
. 2011 Sep 28:2011:bcr0720114494.
doi: 10.1136/bcr.07.2011.4494.

Biotinidase deficiency--clinching the diagnosis rapidly can make all the difference!

Ashwin Rajendiran  1 , Sowmya Sampath
Affiliations
Case Reports

Biotinidase deficiency--clinching the diagnosis rapidly can make all the difference!

Ashwin Rajendiran et al. BMJ Case Rep. .

Abstract

A 2-month-old male infant, born of second degree consanguineous parentage, presented with seizures not responding to phenytoin and phenobarbitone. His perinatal period had been uneventful and there was no family history of seizures. On examination, he had failure to thrive, perioral and perianal rash, alopecia with hypopigmented hair, seborrhoeic dermatitis, bilateral blepharitis, respiratory distress and stridor. Neurological examination revealed hypertonia of all the four limbs, exaggerated deep tendon reflexes and papilloedema. Biotinidase deficiency was suspected within 24 h of admission and empiric oral biotin 10 mg twice daily was started. The symptoms, especially seizures, dramatically improved within 48 h. Serum biotinidase levels revealed a profound deficiency (0.10 nmol/min/ml serum) and the parents were advised regarding the need for regular biotin supplementation. The child is presently 10 months old, thriving well, developmentally normal and is seizure free with total resolution of skin and hair lesions.

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Conflict of interest statement

Competing interests None.

Figures

Figure 1
Figure 1
Erythematous maculopapular rash involving the back and perianal regions.
Figure 2
Figure 2
Blepharitis and conjunctivitis with scanty eyebrows.
Figure 3
Figure 3
Seborrhoeic dermatitis of the scalp with alopecia.
See this image and copyright information in PMC

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