Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses
Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses
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DOI：
10.1016/j.braindev.2011.12.005
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发表时间：
2012-10-01
影响因子：
1.7
通讯作者：
Qin, Hong
中科院分区：
文献类型：
--
作者：
Chang, Xingzhi;Huang, Yu;Qin, Hong
系统回顾了中国收治的9例婴幼儿晚期神经元型类脂褐质增多症的临床表现、病理特点、三肽基肽酶1活性及基因突变分析资料，并进行了长期随访。如果淋巴细胞、皮肤或肌肉标本检查发现曲线小体和/或三肽基肽酶1(TPP1)活性降低，则入选患者。对5例患者进行了CLN2基因突变检测。发病年龄2~3.5岁，多以部分性发作为主，继而发展为精神功能减退、难治性肌阵挛发作、视力减退、共济失调伴小脑萎缩。5例患者的淋巴细胞中有5-10%可见散在的小空泡淋巴细胞。在空泡淋巴细胞、皮肤和肌肉组织中可见曲线小体。5例具有不同CLN2基因突变的患者三肽基肽酶1(TPP1)活性降低。检测空泡淋巴细胞可作为LINCL的筛查方法，淋巴细胞超微结构检查与TPP1活性测定相结合，可在微创的情况下对LINCL作出明确、快速的诊断和分型。(C)2011年日本儿童神经病学学会。爱思唯尔出版，版权所有。
Clinical findings, pathological features and tripeptidyl peptidase 1 (TPP1) activity and genetic mutation analysis data of nine patients affected with the late-infantile form of neuronal ceroid lipofuscinoses (LINCL) in China are systematically reviewed with long-term follow-up. The patients were enrolled if curvilinear bodies were found on lymphocyte, skin or muscle specimens' examination, and/or reduction of tripeptidyl peptidase 1 (TPP1) activity were detected. CLN2 gene mutation were tested in five patients. The patients have onset age of 2-3.5 years, and most of them initially present partial seizure, and then progressed to deteriorated mental function, refractory myoclonic seizures, impaired vision, and ataxia with cerebellar atrophy. Discrete small vacuolated lymphocytes are found in 5-10% lymphocytes in 5 patients examined. Curvilinear bodies were found in vacuolated lymphocytes, in skin and muscle tissues. Tripeptidyl peptidase 1 (TPP1) activities are reduced in 5 patients with different CLN2 gene mutation. Detection of vacuolated lymphocytes may be a screen method for LINCL, ultrastructural examination of lymphocytes, combined with TPP1 activity assay, allowing for a definite and faster diagnosis and classification with minimal invasion. (C) 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.