title: [Metachromatic leukodystrophy in adult patient initially diagnosed as multiple sclerosis].
abstract: The article presents a case of metachromatic leucodystrophy (MLD) of the adult onset type, in which atypical initial course could suggest multiple sclerosis. MLD is an inherited, metabolic, degenerative disease of the nervous system. It is caused by a deficiency of a lysosomal enzyme--arylsulphatase A, with the storage of cerebroside sulphate and demyelination affecting mainly the central and peripheral nervous system. In the reported case of a female aged 21 the clinical onset of the disease was at the age 20. The first neurological symptoms included a mild spastic paraparesis, ataxia of lower limbs, and imbalance. The neurological deterioration has been progressing since the onset. There was no family history of neurological or metabolic diseases, but the patient's parents were near relatives (first cousins). T-2 weighted MRI showed high intensity areas in the white matter, mainly periventricular. The clinical symptoms could suggest multiple sclerosis (of the primary progressive type). The patient was admitted to our Dept. in Oct. 2000, i.e. about a year since the onset. Her increasing spastic triparesis, cerebellar ataxia, neuropathy in lower limbs and cognitive deterioration were confirmed. Re-analysis of the patient's clinical picture and family history, her MRI scans and repeated neurophysiological examinations which demonstrated a damage of the central and peripheral nervous system, suggested metachromatic leucodystrophy. Therefore, it was decided to assay arylsulphatase A activity. The result confirmed the diagnosis of the late onset MLD. Additionally, molecular genetic examination was performed of a DNA sample obtained from the patient.
authors.affiliation: Kliniki Neurologii SlAM w Katowicach.
authors.forename: Zofia
authors.initials: Z
authors.lastname: Kazibutowska
authors.forename: Anetta
authors.initials: A
authors.lastname: Bal
authors.forename: Anna
authors.initials: A
authors.lastname: Gołba
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Ługowska
mesh_terms: D000328:Adult; D019883:Alkyl and Aryl Transferases / Q000172:deficiency; D053501:Arsenite Transporting ATPases; D001921:Brain / Q000473:pathology; D002553:Cerebroside-Sulfatase / Q000378:metabolism; D003072:Cognition Disorders / Q000175:diagnosis; D003711:Demyelinating Diseases / Q000473:pathology; D003937:Diagnosis, Differential; D004569:Electroencephalography; D005260:Female; D005796:Genes; D006801:Humans; D016623:Ion Pumps / Q000235:genetics; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008475:Median Nerve / Q000473:pathology / Q000503:physiopathology; D009097:Multienzyme Complexes / Q000235:genetics; D009103:Multiple Sclerosis / Q000175:diagnosis*; D009431:Neural Conduction / Q000502:physiology; D017933:Peripheral Nervous System / Q000473:pathology / Q000503:physiopathology; D014888:Wechsler Scales
chemical_list: D016623:Ion Pumps; D009097:Multienzyme Complexes; D019883:Alkyl and Aryl Transferases; D002553:Cerebroside-Sulfatase; D053501:Arsenite Transporting ATPases
vernacular_title: Leukodystrofia metachromatyczna u osoby dorosłej rozpoznawana poczatkowo jako stwardnienie rozsiane.