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Profound Biotinidase Deficiency in a Child With Predominantly Spinal Cord Disease

¹ From the Sections of Pediatric Neurology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia
² From the Department of Medical Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia
³ From the Department of Molecular Genetics Laboratory, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia
⁴ From the Department of Medical Genetics, Henry Ford Hospital, and Center for Molecular Medicine and Genetics, Wayne State School of Medicine, Detroit, Michigan

^* To whom correspondence should be addressed. E-mail: chedrawi{at}excite.com.

	Abstract

Biotinidase deficiency is an autosomal recessively inherited disorder that manifests during childhood with various cutaneous and neurological symptoms particularly seizures, hypotonia, and developmental delay. Spinal cord disease has been reported rarely. We describe a 3-year-old boy with profound biotinidase deficiency who presented with progressive spastic paraparesis and ascending weakness in the absence of the usual characteristic neurological manifestations. Supplementation with biotin resulted in resolution of paraparesis with persistent mild spasticity in the lower limbs. DNA mutation analysis revealed that he was homozygous for a novel missense mutation (C>T1339;H447Y) in the BTD gene. This case indicates that biotinidase deficiency should be included in the differential diagnosis of subacute myelopathy and emphasizes the importance of a prompt diagnosis to prevent irreversible neurological damage.

First published on July 21, 2008, doi:10.1177/0883073808318062

Journal of Child Neurology 2008;23:1043.

A more recent version of this article appeared on September 1, 2008


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