One case of adult X-linked adrenoleukodystrophy characterized by cerebellar brainstem symptoms
10.3760/cma.j.issn.1006-7876.2018.09.014
- VernacularTitle:以小脑脑干为突出表现的成人型X-连锁肾上腺脑白质营养不良症一例
- Author:
Kai LIANG
1
;
Jianhua LIANG
;
Hongling MA
Author Information
1. 252000,山东省聊城市人民医院神经内科
- Keywords:
Adrenoleukodystrophy;
Cerebellum;
Brain stem
- From:
Chinese Journal of Neurology
2018;51(9):738-742
- CountryChina
- Language:Chinese
-
Abstract:
X-linked adrenoleukodystrophy is an X-linked recessive genetic disease that mainly affects adrenal and white matter,mostly onset in childhood or adolescence,mainly manifested as progressive psychomotor disorder,visual and hearing loss and/or adrenocortical dysfunction,etc.A case of adult X-linked adrenoleukodystrophy in our hospital is reported and analyzed.The patient's early performances were unclear speech and low emotions,and no obvious positive signs,repeatedly diagnosed as "neurosis".Then gradually emerged drinking cough and unsteady walking,and physical examination showed brainstem and cerebella positive signs.Brain MRI was characterized by symmetrical lesions of bilateral cerebellar hemisphere,bilateral pontine arm,brainstem and pyramidal tract of internal capsule posterior limb,which was reconsidered as " spinal cerebellar degeneration" Finally,the disease was confirmed by gene examination as adrenoleukodystrophy.By summarizing the characteristics of the patient,we hope to provide diagnostic reference for patients with atypical adrenoleukodystrophy.
