Isolated Cerebellar Variant of Adrenoleukodystrophy with a de novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation
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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 resonanceimaging 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 cerebellardegeneration symptoms.
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 resonanceimaging 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 cerebellardegeneration symptoms.
참고문헌 (17)
- Kemp S, "X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects", Biochim Biophys Acta, 1822, pp.1465~1474 (2012)
- Moser HW, "Adrenoleukodystrophy: phenotypic variability and implications for therapy", J Inherit Metab Dis, 15, pp.645~664 (1992)
- Kusaka H, "Ataxic variant of adrenoleukodystrophy: MRI and CT findings", J Neurol, 239, pp.307~310 (1992)
- Dunne E, "A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration", Ann Neurol, 45, pp.652~655 (1999)
- Li JY, "Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation", J Neurol Sci, 290, pp.163~165 (2010)
- Nakazato T, "Adrenoleukodystrophy presenting as spinocerebellar degeneration", Eur Neurol, 29, pp.229~234 (1989)
- Takada K, "An adult case of adrenoleukodystrophy with features of olivo-ponto-cerebellar atrophy: I. Clinical and pathological studies", Jpn J Exp Med, 57, pp.53~58 (1987)
- Tan EK, "X-linked adrenoleukodystrophy: spinocerebellar variant", Clin Neurol Neurosurg, 101, pp.137~140 (1999)
- Vianello M, "X-linked adrenoleukodystrophy with olivopontocerebellar atrophy", Eur J Neurol, 12, pp.912~914 (2005)
- Suzuki Y, "Natural history of X-linked adrenoleukodystrophy in Japan", Brain Dev, 27, pp.353~357 (2005)
- Kurihara K, "A case of adrenoleukodystrophy presenting large lesion of the cerebellar white matter and dentate nuclei on brain CT and MRI", Rinsho Shinkeigaku, 31, pp.72~78 (1991)
- Miyai I, "Magnetic resonance imaging in adrenoleukodystrophy presenting as spinocerebellar degeneration", J Neurol Neurosurg Psychiatry, 53, pp.623~624 (1990)
- Waragai M, "MRI of adrenoleukodystrophy involving predominantly the cerebellum and brain stem", Neuroradiology, 38, pp.788~791 (1996)
- Mishra S, "Adrenoleukodystrophy manifesting as spinocerebellar degeneration", Neurol India, 54, pp.195~196 (2006)
- Loes DJ, "Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy", Neurology, 61, pp.369~374 (2003)
- Elenein RA, "Teaching neuroimages: cerebral adrenoleukodystrophy: a rare adult form", Neurology, 80, pp.e69~e70 (2013)
- Poll-The BT, "Peroxisomal leukoencephalopathy", Semin Neurol, 32, pp.42~50 (2012)