Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation
Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation
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DOI：
10.1007/s00401-004-0872-9
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发表时间：
2004-08-01
影响因子：
12.7
通讯作者：
Simonati, A
中科院分区：
文献类型：
--
作者：
Filosto, M;Mancuso, M;Simonati, A
一名患有肝脑综合征和dGK基因外显子4 bp GATT重复（核苷酸763-766）的婴儿的神经病理学特征是白质的局灶性海绵变性和浦肯野细胞丢失。肝脏疾病在出生后的头几个月出现，随后在31个月时出现进行性肝硬化和死亡。神经系统症状出现较晚且较轻，与有限的脑部病理相符。dGK基因的分子分析应在婴儿肝硬化，即使没有中枢神经受累进行。
Focal spongy degeneration of the white matter and Purkinje cell loss were the neuropathological hallmarks in an infant with hepato-cerebral syndrome and a 4-bp GATT duplication (nucleotides 763-766) in exon 6 of the dGK gene. Liver disease became manifest in the first months of life and was followed by progressive cirrhosis and death at 31 months. Neurological symptoms appeared later and were mild, in agreement with the limited brain pathology. Molecular analysis of the dGK gene should be performed in infants with cirrhosis even in the absence of CNS involvement.