title: X-linked adrenoleukodystrophy with olivopontocerebellar atrophy.
abstract: X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder characterized by adrenal, gonadal and nervous system dysfunction. Patients usually develop spinal cord degeneration with involvement of the cerebral white matter. While a spinocerebellar variant has been described, the selective involvement of cerebellar white matter is very rare. We report the case of a patient affected by X-ALD whose clinical and magnetic resonance imaging (MRI) results resembled olivopontocerebellar atrophy. He was a 29-year-old mentally retarded man, who began to complain of slowly progressive gait ataxia after an 8-year history of Addison's disease. Serial MRI revealed marked cerebellar atrophy involving the inferior cerebellar vermis and brainstem, but sparing the supratentorial white matter. The diagnosis of X-ALD was confirmed by elevated levels of very long-chain fatty acids in the serum. After 2 years follow-up, the patient developed spastic paraparesis. The patient represents an unusual clinical presentation of X-ALD, as further confirmed by the MRI results. Consequently, cerebellar symptoms should be considered as a clinical presentation of X-ALD. Early recognition of this rare disorder would be useful for genetic counselling and therapy.
authors.affiliation: O.U. Neurology, Treviso, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Vianello
authors.forename: R
authors.initials: R
authors.lastname: Manara
authors.forename: C
authors.initials: C
authors.lastname: Betterle
authors.forename: B
authors.initials: B
authors.lastname: Tavolato
authors.forename: B
authors.initials: B
authors.lastname: Mariniello
authors.forename: B
authors.initials: B
authors.lastname: Giometto
mesh_terms: D000326:Adrenoleukodystrophy / Q000150:complications / Q000175:diagnosis*; D000328:Adult; D020234:Gait Ataxia / Q000209:etiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009849:Olivopontocerebellar Atrophies / Q000150:complications / Q000175:diagnosis*; D020336:Paraparesis, Spastic / Q000209:etiology; D014057:Tomography, X-Ray Computed