Premium
X‐linked adrenoleukodystrophy with olivopontocerebellar atrophy
Author(s) -
Vianello M.,
Manara R.,
Betterle C.,
Tavolato B.,
Mariniello B.,
Giometto B.
Publication year - 2005
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2005.01134.x
Subject(s) - adrenoleukodystrophy , olivopontocerebellar atrophy , medicine , cerebellar ataxia , white matter , magnetic resonance imaging , pathology , cerebellar vermis , ataxia , cerebellum , atrophy , disease , radiology , degenerative disease , psychiatry , peroxisome , receptor
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.