title: Clinical manifestations of late onset cerebral storage disease: a case of metachromatic leukodystrophy.
abstract: Clinical symptoms, MRI of the brain and neuro pathological findings of a case with adult metochromatic leukodystrophy are presented. Clinically it is important to consider a possible late-onset manifestation of an inborn cerebral storage disease, when uncertain psychopathological symptoms are difficult to assign to well-known diseases. These cerebral storage diseases may appear as "juvenile behaviour disturbance" or "schizophrenia". The clinical suspicion may further be confirmed by simultaneous or subsequent neurological or ophthalmological symptoms. The definitive diagnosis is possible by biochemical or histopathological methods. MRI of brain and neuro pathological findings correspond well with regard to white matter lesions.
authors.affiliation: Landesnervenkrankenhaus Graz, Austria.
authors.forename: M
authors.initials: M
authors.lastname: Minauf
authors.forename: R
authors.initials: R
authors.lastname: Kleinert
authors.forename: F
authors.initials: F
authors.lastname: Ebner
mesh_terms: D000328:Adult; D001344:Autopsy; D001921:Brain / Q000473:pathology*; D002100:Cachexia / Q000209:etiology; D002648:Child; D005260:Female; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male