Late presentation of biotinidase deficiency with acute visual loss and gait disturbance.

Abstract:

:An unusual presentation of biotinidase deficiency is described. The disorder classically presents in infancy or early childhood with intractable seizures, hypotonia, ataxia, hearing loss, dermatitis, and alopecia. A 5-year-old girl developed acute visual loss associated with optic atrophy, and disturbance of gait with predominantly lower-limb pyramidal signs. She had no seizures, and skin, hair, hearing, and intellect were normal. Biotinidase deficiency was confirmed biochemically and she responded well to biotin therapy. A diagnosis of biotinidase deficiency should be considered in children with unexplained bilateral optic neuropathy, particularly when there is accompanying gait disorder.

journal_name

Dev Med Child Neurol

authors

Rahman S,Standing S,Dalton RN,Pike MG

doi

10.1111/j.1469-8749.1997.tb07552.x

subject

Has Abstract

pub_date

1997-12-01 00:00:00

pages

830-1

issue

12

eissn

0012-1622

issn

1469-8749

journal_volume

39

pub_type

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