Isolated Cerebellar Variant of Adrenoleukodystrophy with a de novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation.
10.3349/ymj.2014.55.4.1157
- Author:
Joon Won KANG
1
;
Sang Mi LEE
;
Kyo Yeon KOO
;
Young Mock LEE
;
Hyo Suk NAM
;
Zhejiu QUAN
;
Hoon Chul KANG
Author Information
1. Department of Pediatrics, Chungnam National University Hospital, Chungnam National University College of Medicine, Daejeon, Korea.
- Publication Type:Case Reports ; Research Support, Non-U.S. Gov't
- Keywords:
X-linked adrenoleukodystrophy;
cerebellar;
ABCD1;
very long chain fatty acid
- MeSH:
ATP-Binding Cassette Transporters/*genetics;
Adrenoleukodystrophy/blood/*genetics;
Adult;
Cerebellar Diseases/blood/*genetics;
Fatty Acids/blood;
Humans;
Male;
Mutation
- From:Yonsei Medical Journal
2014;55(4):1157-1160
- CountryRepublic of Korea
- Language:English
-
Abstract:
X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported. We report an unusual presentation of X-ALD only with an isolated lesion of the cerebellar white matter and dentate nuclei. The proband, a 37-year-old man presented with bladder incontinence, slurred speech, dysmetria in all limbs, difficulties in balancing, and gait ataxia. Brain magnetic resonance imaging showed an isolated signal change of white matter around the dentate nucleus in cerebellum. With high level of very long chain fatty acid, gene study showed a de novo mutation in exon 1 at nucleotide position c.277_296dup20 (p.Ala100Cysfs*10) of the adenosine triphosphate-binding cassette D1 gene. It is advised to consider X-ALD as a differential diagnosis in patients with isolated cerebellar degeneration symptoms.
