Wang Jing, Zhu Qian, Liu Hongqian
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, China.
Medicine (Baltimore). 2018 May;97(21):e10837. doi: 10.1097/MD.0000000000010837.
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, which is inherited as an X-linked recessive trait. ATP binding cassette subfamily D member 1 (ABCD1) localized to Xq28 is the only gene associated with ALD.
We report a case of Chinese boy with childhood cerebral ALD, who began experiencing symptoms at the age of 5 years and 2 months. Very long chain fatty acids analysis revealed high levels of C24/C22 ratio and C26/C22 ratio in the plasma. Magnetic resonance imaging (MRI) showed abnormal bilateral white matter lesions in brainstem, temporal, occipital, and parietal lobes.
Direct sequencing of the ABCD1 gene identified a novel c.1502del mutation on exon 6, which causes a substitution of the 501st amino acid from methionine to serine and finally the 557th codon is changed to stop codon.
Special education and rehabilitation therapy.
The disease progressed rapidly and resulted in death at the age of 8 years.
Early detection of mutations in the ABCD1 gene may facilitate diagnosis, genetic counseling and potentially aid prenatal diagnosis of the disease.
X连锁肾上腺脑白质营养不良（X-ALD）是最常见的过氧化物酶体疾病，呈X连锁隐性遗传。定位于Xq28的ATP结合盒亚家族D成员1（ABCD1）是与ALD相关的唯一基因。
我们报告一例中国儿童脑型ALD病例，该男孩5岁2个月开始出现症状。极长链脂肪酸分析显示血浆中C24/C22比值和C26/C22比值升高。磁共振成像（MRI）显示脑干、颞叶、枕叶和顶叶双侧白质病变异常。
对ABCD1基因进行直接测序，在外显子6上发现一个新的c.1502del突变，该突变导致第501位氨基酸由蛋氨酸替换为丝氨酸，最终第557位密码子变为终止密码子。
特殊教育和康复治疗。
疾病进展迅速，该男孩8岁时死亡。
早期检测ABCD1基因突变可能有助于疾病的诊断、遗传咨询，并可能有助于疾病的产前诊断。
