Hayashi M, Itoh M, Kabasawa Y, Hayashi H, Satoh J, Morimatsu Y
Department of Pediatrics, Tokyo Medical and Dental University, Japan.
Brain Dev. 1992 Jan;14(1):58-62. doi: 10.1016/s0387-7604(12)80281-6.
An autopsy case, a 6-month-old girl, with an interstitial deletion of the long arm of chromosome 15;del(15)(q11.1q12) was reported. Muscle hypotonia, poor sucking and intermittent ocular deviation were noticed soon after birth. She also exhibited external features peculiar to the Prader-Willi syndrome (PWS). The muscle hypotonia persisted and head control was not achieved. She died at the age of 6 months due to bronchopneumonia. G-banding analysis of prometaphase chromosomes revealed a deletion of chromosome 15. Bronchopneumonia of the lungs and fatty metamorphosis of the liver were found. Neuropathological anomalies recognized were; disturbed undulating structures, resembling cortical micropolygyria and pachygyria, in the dentate nucleus and the inferior olivary nucleus, grumose degeneration of the nerve cells in the dentate nucleus, and heterotopia of middle-sized neurons in the cerebellar white matter. No abnormalities were observed in the hypothalamus-pituitary system. In some autopsy cases of PWS, cerebellar lesions have been reported. These might be related to the muscle hypotonia in PWS.
报告了一例尸检病例，一名6个月大的女孩，其15号染色体长臂存在间质性缺失；del(15)(q11.1q12)。出生后不久即发现肌张力减退、吸吮无力和间歇性眼偏斜。她还表现出普拉德-威利综合征（PWS）特有的外部特征。肌张力减退持续存在，未能实现抬头控制。她于6个月大时因支气管肺炎死亡。对前中期染色体进行G显带分析显示15号染色体缺失。发现肺部支气管肺炎和肝脏脂肪变性。所识别的神经病理学异常包括：齿状核和下橄榄核中存在紊乱的起伏结构，类似于皮质微小多小脑回和巨脑回，齿状核神经细胞颗粒样变性，以及小脑白质中中型神经元异位。下丘脑-垂体系统未观察到异常。在一些PWS尸检病例中，已报告存在小脑病变。这些可能与PWS中的肌张力减退有关。
