title: A girl with spastic tetraparesis associated with biotinidase deficiency.
abstract: Biotinidase deficiency is a disorder of biotin metabolism that manifests with cutaneous, ophthalmological and neurologyical symptoms in childhood. Spinal cord involvement has rarely been reported and all of the reported cases are spastic paraparesis. A 3 year-old girl with biotinidase deficiency was admitted to our clinic with hyperventilation, hair loss and spastic tetraparesis. To our knowledge, our case is the first reported tetraparesis associated with biotinidase deficiency. She was treated with oral biotin and benefited significantly from this therapy.
authors.affiliation: Department of Pediatric Neurology, Mersin University School of Medicine, Mersin, Turkey.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Komur
authors.forename: Cetin
authors.initials: C
authors.lastname: Okuyaz
authors.forename: Fatih
authors.initials: F
authors.lastname: Ezgu
authors.forename: Aytug
authors.initials: A
authors.lastname: Atici
mesh_terms: D000284:Administration, Oral; D001710:Biotin / Q000008:administration & dosage; D028921:Biotinidase Deficiency / Q000150:complications* / Q000178:diet therapy; D001929:Brain Edema / Q000175:diagnosis / Q000209:etiology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009128:Muscle Spasticity / Q000150:complications / Q000178:diet therapy / Q000188:drug therapy / Q000209:etiology*; D011782:Quadriplegia / Q000150:complications / Q000178:diet therapy / Q000209:etiology*; D013116:Spinal Cord / Q000473:pathology; D014803:Vitamin B Complex / Q000008:administration & dosage
chemical_list: D014803:Vitamin B Complex; D001710:Biotin