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

Developmental Medicine and Child Neurology
S RahmanM G Pike

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.

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Citations

Mar 25, 2017·Multiple Sclerosis : Clinical and Laboratory Research·Barry Wolf
Apr 7, 2004·The Journal of Comparative Neurology·Bruce E McKayRay W Turner
Nov 15, 2012·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Susana NovalAna Boto-De-los-Bueis
Sep 8, 2017·Skin Appendage Disorders·Deepa P PatelLeslie Castelo-Soccio
Apr 11, 2019·Arquivos de neuro-psiquiatria·José Luiz PedrosoOrlando G P Barsottini
Mar 31, 2017·Journal of Medical Biochemistry·Sevgin Özlem Işeri-ErtenNuriye Nuray Ulusu
Jun 25, 2021·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Arif O Khan
Jun 24, 2011·Molecular Genetics and Metabolism·Barry Wolf

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