临床神经病学杂志2025，Vol.38Issue(5)：327-331,5.
肾上腺脊髓神经病的临床及影像学特点(附1例报告)
Clinical and imaging characteristics of adrenomyeloneuropathy(report of one case)
摘要
Abstract
Objective To analyze the clinical and imaging features of adrenomyeloneuropathy(AMN).Methods A retrospective analysis was conducted on the clinical data of one patient diagnosed with AMN through genetic testing.Results This patient was a young male with insidious onset,chronic course and progressive aggravation.The main clinical manifestations were speech,choking cough when drinking water,weakness of both lower limbs,unstable walking and urinary incontinence.Physical examination showed dysarthria,bilateral pyramidal tract,sphincter dysfunction,combined with systemic skin blackening,skin and mucosal pigmentation.MRI showed symmetrical abnormal high signal of bilateral corticospinals,significant atrophy of cerebellum,brainstem and cervical and thoracic spinal cord.Lumbar puncture CSF IL-6,IL-8 slightly high,serum myelin oligodendrocyte glycoprotein(MOG)antibody positive(1∶32).The localization diagnosis was adrenal cortex cerebellum bilateral corticospinal tracts peripheral nerve,and the qualitative diagnosis considered hereditary metabolic diseases,MOG antibody-related diseases could not be excluded.But the patient had a chronic course,atrophy of cerebellum,brainstem,cervical and thoracic spinal cord,and considered that the serum MOG antibody might be false positive,so the qualitative diagnosis hereditary metabolic diseases were more likely.Because of the limited technical conditions in our hospital,we could not detect plasma very long-chain fatty acids,while the completion of gene detection showed ABCD1 gene mutation:c.1628C＞T(p.Pro543Leu)variant,so the diagnosis of AMN was clear.Conclusions AMN is an X-linked recessive genetic disorder.Its clinical manifestations primarily include impairment of neural conduction tracts(spastic paraplegia,sphincter dysfunction,and deep sensory disturbances),adrenal cortical insufficiency(skin and mucosal hyperpigmentation,sparse hair),and cerebral symptoms(dysgraphia,visual/hearing impairment,cognitive dysfunction,and personality changes).Imaging findings mainly show demyelination of the brain white matter in the bilateral corticospinal tract regions and degenerative spinal cord atrophy.Elevated levels of very long-chain fatty acids(VLCFAs)and mutations in the ABCD1 gene can confirm the diagnosis of AMN.关键词
肾上腺脊髓神经病/脊髓退行性病变/周围神经病Key words
adrenal spinal neuropathy/spinal cord degenerative disease/peripheral neuropathy分类
医药卫生引用本文复制引用
宋良,付胜奇,石宝洋,禹萌,刘海涛..肾上腺脊髓神经病的临床及影像学特点(附1例报告)[J].临床神经病学杂志,2025,38(5):327-331,5.基金项目
河南省科技攻关项目(LHGJ20240880,242102310048) （LHGJ20240880,242102310048）
