title: [A case of adrenoleukodystrophy presenting large lesion of the cerebellar white matter and dentate nuclei on brain CT and MRI].
abstract: A 17-year-old male was admitted to our hospital complaining of slowly progressive gait disturbance. His initial symptoms were behavioral change and mental deterioration starting at age 16. One year later, unstable gait and speech disturbance appeared. On admission, neurological findings included slight dementia, visual loss, scanning speech, dysdiadochkinesis, pathological reflexes, spastic and ataxic gait. Brain CT scan showed symmetrical low density areas in the dentate nuclei and cerebellar white matter, atrophy of the brain stem and cerebellum, and dilatation of the fourth ventricle. These findings were also confirmed by MRI. One year after admission, atrophy of the frontal, temporal, parietal lobes was noted by CT scan and MRI. The cervical and thoracic cord was observed to be atrophic by MRI. Motor nerve conduction study showed decreased velocity, suggesting the presence of peripheral neuropathy. Fatty acids analysis of plasma sphingomyelin revealed marked increased in very long chain fatty acids, which was compatible with a diagnosis of adrenoleukodystrophy (ALD). However, the term "adrenoleukomyeloneuropathy (ALMN)" was considered more preferable, since the spinal cord and peripheral nerves were involved in this case. Prominent changes in the cerebellar white matter and dentate nuclei at early stage on CT and MRI were not described in the previous publications. Our paper, hence, may be the first one to report such findings and may contribute to early recognition of ALD or ALMN.
authors.affiliation: Department of Neurology, Saitama Medical School.
authors.forename: K
authors.initials: K
authors.lastname: Kurihara
authors.forename: H
authors.initials: H
authors.lastname: Kim
authors.forename: N
authors.initials: N
authors.lastname: Tamura
authors.forename: S
authors.initials: S
authors.lastname: Iwasaki
authors.forename: K
authors.initials: K
authors.lastname: Hamaguchi
mesh_terms: D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000175:diagnosis*; D002529:Cerebellar Nuclei / Q000000981:diagnostic imaging / Q000473:pathology*; D002531:Cerebellum / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed