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Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Author(s) -
Rahman Shamima,
Standing Susan,
MA R Neil Dalton,
Pike Michael G.
Publication year - 1997
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.1997.tb07552.x
Subject(s) - biotinidase deficiency , gait disturbance , hypotonia , ataxia , medicine , gait ataxia , hearing loss , atrophy , gait , pediatrics , audiology , physical medicine and rehabilitation , psychiatry , newborn screening
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.