Khera Daisy, John Joseph, Singh Kuldeep, Faruq Mohammed
Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Jodhpur, Rajasthan, India.
Department of Pediatrics, All India Institute of Medical Sciences Bhubaneswar, Bhubaneswar, Odisha, India.
BMJ Case Rep. 2018 Dec 13;11(1):e225916. doi: 10.1136/bcr-2018-225916.
Lysosomal storage disorders or lipidoses are a wide spectrum of inherited diseases caused by deficiency of a specific lysosomal hydrolase. About 134 mutations have been described so far and this number is gradually increasing with newer mutations being reported. We report a 28-month-old child who presented to us with neurodevelopment regression, seizures and cherry red spot in both eyes. His hexosaminidase A enzyme activity was reduced and genetic testing revealed a homozygous novel variation in HEXA (hexosaminidase A) gene in the DNA sample of the patient.
溶酶体贮积症或脂质沉积症是由特定溶酶体水解酶缺乏引起的一系列广泛的遗传性疾病。迄今为止，已描述了约134种突变，并且随着新突变的报道，这个数字正在逐渐增加。我们报告了一名28个月大的儿童，他出现神经发育倒退、癫痫发作和双眼樱桃红斑。他的己糖胺酶A酶活性降低，基因检测显示患者DNA样本中HEXA（己糖胺酶A）基因存在纯合新变异。
