Rare Diseases
Clinical characteristics of adrenoleukodystrophy with a novel ABCD1 gene mutation
Yan Han, Xue Bingshuang, Yang Qichao, Wei Yuhe, Shao Xuejing
Published 2023-10-25
Cite as Chin J Endocrinol Metab, 2023, 39(10): 833-838. DOI: 10.3760/cma.j.cn311282-20230127-00043
Abstract
ObjectiveTo analyze the clinical features and genetic background of adrenoleukodystrophy(ALD).
MethodsIn this study, we reported a rare case of ALD who initially presented with progressive bilateral lower limb weakness. The clinical data of the patient and his family members were collected and the ABCD1 gene was sequenced for the patient and his three daughters by a high-throughput sequencing method.
ResultsThe proband had a later onset of symptoms, a prolonged course of the disease, and initially exhibited bilateral lower limb weakness and nocturnal muscle spasms. The disease progressed to spastic quadriplegia, aphasia, dementia, swallowing difficulties, and urinary and fecal incontinence. Serum very-long-chain fatty acid concentrations were elevated. Subclinical cortisol secretion abnormalities were observed. Cranial imaging indicated symmetrical reduction in density around the lateral ventricles and white matter degeneration. The proband′s ABCD1 gene analysis revealed a novel heterozygous mutation c. 1367G>A, p. R456H. His three daughters carried the same nucleotide heterozygous mutation.
ConclusionThis study investigates the clinical characteristics of ALD, providing additional clinical evidence for the diagnosis and treatment of this condition. Additionally, a novel mutation in the ABCD1 gene was identified, contributing to the genetic variation database.
Key words:
Adrenoleukodystrophy; Rare disease; Gene mutation; ABCD1 gene
Contributor Information
Yan Han
Department of Endocrinology, Wujin Hospital Affiliated to Jiangsu University, Changzhou 213000, China
Department of Endocrinology, the Wujin Clinical College of Xuzhou Medical University, Changzhou 213000, China
Xue Bingshuang
Department of Endocrinology, Wujin Hospital Affiliated to Jiangsu University, Changzhou 213000, China
Department of Endocrinology, the Wujin Clinical College of Xuzhou Medical University, Changzhou 213000, China
Yang Qichao
Department of Endocrinology, Wujin Hospital Affiliated to Jiangsu University, Changzhou 213000, China
Department of Endocrinology, the Wujin Clinical College of Xuzhou Medical University, Changzhou 213000, China
Wei Yuhe
Department of Endocrinology, Wujin Hospital Affiliated to Jiangsu University, Changzhou 213000, China
Department of Endocrinology, the Wujin Clinical College of Xuzhou Medical University, Changzhou 213000, China
Shao Xuejing
Department of Endocrinology, Wujin Hospital Affiliated to Jiangsu University, Changzhou 213000, China
Department of Endocrinology, the Wujin Clinical College of Xuzhou Medical University, Changzhou 213000, China
