Wargowski D S, Chitayat D, Tyson R W, Norman M G, Friedman J M
Department of Medical Genetics, University of British Columbia, Vancouver.
Am J Med Genet. 1991 Apr 1;39(1):19-24. doi: 10.1002/ajmg.1320390106.
A term newborn male with severe hypotonia and contractures was found to have dense bilateral cataracts. He died at age 3 days of respiratory failure. Amino acidopathies and disorders of peroxisome function were excluded, and results of serologic studies and placental histopathology, specifically seeking evidence of intrauterine infection, were normal. Autopsy showed changes in the skeletal muscles consistent with congenital muscular dystrophy and a small focal anomaly of the cerebral cortex. These findings either represent a new syndrome or raise further questions about broadening the spectrum of known congenital muscular dystrophy syndromes with associated eye and brain anomalies.
一名患有严重肌张力减退和挛缩的足月新生儿男性被发现患有双侧致密性白内障。他在3天时死于呼吸衰竭。排除了氨基酸病和过氧化物酶体功能障碍，血清学研究和胎盘组织病理学检查结果（特别是寻找宫内感染证据）均正常。尸检显示骨骼肌变化符合先天性肌营养不良，大脑皮层有一个小的局灶性异常。这些发现要么代表一种新综合征，要么引发了关于扩大已知先天性肌营养不良综合征范围（伴有相关眼部和脑部异常）的进一步问题。
