Addison disease as presenting manifestation of one patient with adrenoleukodystrophy and identification of a novel ABCD1 gene mutation
10.3760/cma.j.issn.1000-6699.2019.10.003
- VernacularTitle: 以Addison病为首发表现的肾上腺脑白质营养不良症一例及ABCD1基因新突变分析
- Author:
Yue ZHOU
1
;
Bingzi DONG
1
;
Xiang WANG
1
;
Zhuang GENG
1
;
Yajing HUANG
1
;
Yangang WANG
1
Author Information
1. Department of Endocrinology, Affiliated Hospital of Qingdao University, Qingdao 266003, China
- Publication Type:Journal Article
- Keywords:
Adrenaleukodystrophy;
Adrenal insufficiency;
Addison disease
- From:
Chinese Journal of Endocrinology and Metabolism
2019;35(10):829-833
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To identify the clinical manifestations, imaging findings, and genetic mutation characteristics in a rare case of adrenoleukodystrophy(ALD)with adrenocortical dysfunction(Addison′s disease)as the first manifestation.
Methods:The clinical data of the proband and his family members were comprehensively collected, and ABCDl gene sequencing was meticulously performed for the proband and his mother using high-throughput sequencing method.
Results:The patient presented with systematical skin pigmentation accompanied by fatigue in early stage, arose stroke-like episodes manifested as a sudden loss of consciousness and incontinence induced by high fever, and followed by progressive unclear speech, unstable walking and worsening vision. Serum very long-chain fatty acid(VLCFA)concentration increased over normal range. The brain MRI showed an abnormal signal of the symmetric distribution of the bilateral corpus callosum. A new c. 874_876del GAG hemizygous variation in the patient′s ABCD1 gene was detected, while his mother had a nucleotide heterozygous variation to this site .
Conclusion:The diagnosis of ALD requires a combination of clinical manifestations, imaging examination, and serum VLCFA level measurement, while the detection of ABCD1 gene mutations is considered to be the most reliable approach.
