Toyofuku T, Takashima S, Takeshita K, Nagafuji H
Brain Dev. 1986;8(3):285-9. doi: 10.1016/s0387-7604(86)80084-5.
A 3 1/2-year-old child with progressive muscular dystrophy (PMD) and congenital adrenal hypoplasia (CAH) is described. Symptoms and signs of adrenocortical insufficiency appeared shortly after birth. Despite corticosteroid therapy, the muscular weakness and elevated CK level continued. A diagnosis of Duchenne muscular dystrophy was made on the basis of clinical signs and characteristic muscle biopsy. The affection of his older brother suggests an X-linked recessive inheritance. The autopsy revealed a very rare combination of cytomegalic type CAH and PMD. This combination suggests that a small deletion of X-chromosome might be responsible for the two disorders.
本文描述了一名3岁半患有进行性肌营养不良（PMD）和先天性肾上腺发育不全（CAH）的儿童。肾上腺皮质功能不全的症状和体征在出生后不久就出现了。尽管进行了皮质类固醇治疗，但肌肉无力和肌酸激酶水平升高仍持续存在。根据临床症状和典型的肌肉活检结果，诊断为杜氏肌营养不良。他哥哥的患病情况提示为X连锁隐性遗传。尸检显示巨细胞型CAH和PMD的罕见组合。这种组合提示X染色体的小缺失可能是这两种疾病的病因。
