title: A boy with spastic paraparesis and dyspnea.
abstract: A 4 1/2-year-old boy with signs and symptoms of spastic paraparesis and dyspnea is presented. Biotinidase deficiency was considered and was confirmed by both urine organic acid analysis and biotinidase activity measurement. The child recovered gradually on biotin therapy. Because other systemic signs and symptoms of the disease might not be present initially or might develop later, biotinidase deficiency should be considered in the differential diagnosis of a child presenting with acute or subacute spastic paraparesis.
authors.affiliation: Department of Pediatrics, Section of Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey. skalkano@hacettepe.edu.tr
authors.forename: H Serap
authors.initials: HS
authors.lastname: Kalkanoğlu
authors.forename: Ali
authors.initials: A
authors.lastname: Dursun
authors.forename: Ayşegül
authors.initials: A
authors.lastname: Tokatli
authors.forename: Turgay
authors.initials: T
authors.lastname: Coşkun
authors.forename: Defne
authors.initials: D
authors.lastname: Karasimav
authors.forename: Haluk
authors.initials: H
authors.lastname: Topaloğlu
mesh_terms: D001710:Biotin / Q000627:therapeutic use; D028921:Biotinidase Deficiency / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy; D002675:Child, Preschool; D004417:Dyspnea / Q000209:etiology*; D006801:Humans; D008297:Male; D020336:Paraparesis, Spastic / Q000209:etiology*
chemical_list: D001710:Biotin