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.

• Authors: S Rahman, S Standing, R N Dalton, M G Pike
• Journal: Developmental medicine and child neurology (Dev Med Child Neurol) Vol. 39 Issue 12 Pg. 830-1 (Dec 1997) ISSN: 0012-1622 [Print] England
• PMID: 9433860 (Publication Type: Case Reports, Journal Article)

Chemical References

• Biotin
• Amidohydrolases
• Biotinidase

Topics

• Amidohydrolases (deficiency)
• Biotin (therapeutic use)
• Biotinidase
• Child, Preschool
• Female
• Gait
• Humans
• Metabolism, Inborn Errors (diagnosis)
• Optic Atrophy (complications)
• Treatment Outcome
• Vision Disorders (etiology)