title: Profound biotinidase deficiency in a child with predominantly spinal cord disease.
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.
authors.affiliation: Sections of Pediatric Neurology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia. chedrawi@excite.com
authors.forename: Aziza K
authors.initials: AK
authors.lastname: Chedrawi
authors.forename: Ayman
authors.initials: A
authors.lastname: Ali
authors.forename: Zuhair N
authors.initials: ZN
authors.lastname: Al Hassnan
authors.forename: Muhammad
authors.initials: M
authors.lastname: Faiyaz-Ul-Haque
authors.forename: Barry
authors.initials: B
authors.lastname: Wolf
mesh_terms: D001710:Biotin / Q000008:administration & dosage / Q000378:metabolism*; D028921:Biotinidase Deficiency / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D042241:Early Diagnosis; D015971:Gene Expression Regulation, Enzymologic / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D015493:Paraparesis, Tropical Spastic / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D013116:Spinal Cord / Q000187:drug effects / Q000378:metabolism / Q000503:physiopathology; D013118:Spinal Cord Diseases / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D016896:Treatment Outcome
chemical_list: D005819:Genetic Markers; D001710:Biotin