title: Adrenoleukomyeloneuropathy presenting as cerebellar ataxia in a young child: a probable variant of adrenoleukodystrophy.
abstract: A child aged 5 years 7 months was diagnosed as suffering from adrenoleukomyeloneuropathy (ALMN). The first sign was ataxia, and high intensity lesions were observed in the cerebellar hemispheres on T2-weighted brain MRI. His condition progressed rapidly to a vegetative state in 1 year. When aged 7 years 3 months adrenal insufficiency supervened and his skin turned dark. Rectal biopsy revealed linear cytoplasmic inclusions in macrophages in the rectal membrane. At the age of 8 years 2 months, an analysis of very long-chain fatty acids of sphingomycin in plasma led to the final diagnosis. At the age of 10 years, cerebellar and cerebral atrophy were prominent and diffuse high intensity lesions were noted in the cerebellum and cerebrum. An onset below 9 years of age has not previously been documented in ALMN.
authors.affiliation: Department of Pediatrics, Kanagawa Rehabilitation Center, Atsugi, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Kurihara
authors.forename: K
authors.initials: K
authors.lastname: Kumagai
authors.forename: S
authors.initials: S
authors.lastname: Yagishita
authors.forename: M
authors.initials: M
authors.lastname: Imai
authors.forename: M
authors.initials: M
authors.lastname: Watanabe
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: T
authors.initials: T
authors.lastname: Orii
mesh_terms: D000326:Adrenoleukodystrophy / Q000097:blood / Q000000981:diagnostic imaging / Q000473:pathology*; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002524:Cerebellar Ataxia / Q000097:blood / Q000000981:diagnostic imaging / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D002675:Child, Preschool; D004569:Electroencephalography; D005227:Fatty Acids / Q000097:blood; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009046:Motor Neurons / Q000502:physiology; D009431:Neural Conduction / Q000502:physiology; D012007:Rectum / Q000473:pathology; D013109:Sphingomyelins / Q000097:blood; D014057:Tomography, X-Ray Computed
chemical_list: D005227:Fatty Acids; D013109:Sphingomyelins