Child with predominant midline stereotypies and infrequent seizures.
作者信息
Singanamalla Bhanudeep, Madaan Priyanka, Saini Lokesh, Sankhyan Naveen
机构信息
Pediatric Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Pediatrics, Council of Scientific and Industrial Research, CSIR complex, Library Avenue, Pusa, New Delhi, India.
出版信息
BMJ Case Rep. 2021 Jan 20;14(1):e238764. doi: 10.1136/bcr-2020-238764.
Abstract
摘要
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Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.MFSD8基因复合杂合突变导致的晚发性婴儿神经元蜡样脂褐质沉积症（CLN7）中的类瑞特氏病发病及临床发病体征文献数据综述
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