Gowda Vykuntaraju K, Srinivasan Varun M, Benakappa Naveen, Benakappa Asha
Department of Pediatrics, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
Bangalore Child Neurology and Rehabilitation Center, No 8/A, First Cross, First Main, Near Adhichunchanagiri Choultry, Vijayanagar, Bangalore, Karnataka, 560104, India.
Indian J Pediatr. 2017 May;84(5):403-404. doi: 10.1007/s12098-016-2286-9. Epub 2017 Jan 31.
A patient with Sialidosis type 1 with a novel variation in neuraminidase-1 (NEU1) is described. The patient developed ataxia and myoclonus at 9 y of age. He was born to a second degree consanguineous marriage couple. On examination child had cerebellar signs and bilateral macular cherry-red spots. MRI of the brain and electroencephalogram were normal. The enzyme analysis revealed deficiency of neuraminidase. Genetic analysis identified novel homozygous missense mutation c.742G > T (p.G248C) in exon 4 of NEU1 gene. At 13 y of age, the ataxia and had myoclonus progressed.
描述了一名1型唾液酸沉积症患者，其神经氨酸酶-1（NEU1）存在新的变异。该患者9岁时出现共济失调和肌阵挛。他的父母是二级近亲结婚。检查发现患儿有小脑体征和双侧黄斑樱桃红斑。脑部MRI和脑电图正常。酶分析显示神经氨酸酶缺乏。基因分析在NEU1基因外显子4中鉴定出新型纯合错义突变c.742G>T（p.G248C）。13岁时，共济失调和肌阵挛病情进展。
