One case of adult X-linked adrenoleukodystrophy characterized by cerebellar brainstem symptoms / 中华神经科杂志

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.