| Autor: |
Vianello M; O.U. Neurology, Treviso, Italy., Manara R, Betterle C, Tavolato B, Mariniello B, Giometto B |
| Jazyk: |
angličtina |
| Zdroj: |
European journal of neurology [Eur J Neurol] 2005 Nov; Vol. 12 (11), pp. 912-4. |
| DOI: |
10.1111/j.1468-1331.2005.01134.x |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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