title: Deteriorating neurological and neuroradiological course in treated biotinidase deficiency.
abstract: We report a 7-month-old female baby with recent onset of neurological manifestations and mucocutaneous candidiasis. Immunological findings were compatible with severe combined immune deficiency (SCID). Infectious etiology of the central nervous system (CNS) involvement was ruled out. Biotinidase deficiency was suspected because of the concomitance of neurological and immunological deficits and was confirmed by enzymatic assay. Comprehensive treatment, including bone marrow transplantation (BMT) and biotin, resulted in immunological recovery, but no improvement of neurological condition. Serial brain CT scans over a period of 2 1/2 years demonstrated profound progression of brain atrophy involving gray matter.
authors.affiliation: Department of Pediatrics, Bikur Cholim General Hospital, Jerusalem, Israel.
authors.forename: T
authors.initials: T
authors.lastname: Ginat-Israeli
authors.forename: H
authors.initials: H
authors.lastname: Hurvitz
authors.forename: A
authors.initials: A
authors.lastname: Klar
authors.forename: G
authors.initials: G
authors.lastname: Blinder
authors.forename: D
authors.initials: D
authors.lastname: Branski
authors.forename: N
authors.initials: N
authors.lastname: Amir
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency* / Q000378:metabolism; D001710:Biotin / Q000627:therapeutic use*; D043523:Biotinidase; D016026:Bone Marrow Transplantation; D001921:Brain / Q000000981:diagnostic imaging / Q000378:metabolism / Q000503:physiopathology; D001927:Brain Diseases / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D002178:Candidiasis, Chronic Mucocutaneous / Q000175:diagnosis* / Q000201:enzymology / Q000276:immunology; D004569:Electroencephalography; D005072:Evoked Potentials, Auditory; D005073:Evoked Potentials, Somatosensory; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000188:drug therapy / Q000601:surgery; D014057:Tomography, X-Ray Computed
chemical_list: D001710:Biotin; D000581:Amidohydrolases; D043523:Biotinidase