Adult-onset X-linked adrenoleukodystrophy characterized by brainstem symptoms: a case report / 中华神经科杂志

ABSTRACT

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. Adult-onset X-ALD characterized by brainstem symptoms is a rare phenotype of the disease. A male youth of adult-onset X-ALD characterized by brainstem symptoms in Tianjin Huanhu Hospital at April 12, 2021 is reported. The patient mainly presented with progressively gait disturbance, dysarthria and ataxia, which were consistent with the clinical diagnosis of X-ALD in combination with other ancillary tests. Genetic testing suggested the presence of a hemizygous mutation site in the ABCD1 gene. The clinical, imaging and genetic characteristics of X-ALD patients in the literature with brain stem lesion are also summarized, thereby improving the understanding of the rare clinical phenotype of X-ALD.