1 武汉大学中南医院儿科，武汉 430071
糖原贮积病(glycogen storage disease，GSD) IV型是一种罕见的常染色体隐性遗传病。本文报告了1例先天性GSD IV神经肌肉型患儿，伴有张力减退，出生时即有关节症状，5个月时发现肝酶升高，心脏和呼吸系统无异常；肌电图检查提示肌源性损害的可能性大。肝脏穿刺活检结果显示：广泛肝细胞变性伴包涵体以及桥状纤维化，符合GSD IV型；基因检测结果显示患儿GBE1基因存在2处错义突变：c.475C>T，p.Pro159Leu和c.1229T>G，p.Ile410Arg，为复合杂合突变，父母为携带者。截至2018年12月，共检索到相关外文文献16篇，中文文献6篇。迄今全球已报道的GSD IV型共61例，其中肝型22例，神经肌肉型39例，国内报道了13例，全部为肝型。神经肌肉型临床表现个体差异明显。本例是中国首次报道的GSD IV型神经肌肉型患者。
Glycogen storage disease type IV in an infant: A case report and literature review
This work was supported by the Special Fund for Basic Scientific Research Operating Expenses of Central Universities, China (2042018kf0082).
Glycogenosis IV (GSD IV) is a rare autosomal recessive disorder. This article reported a congenital GSD IV neuromuscular type with hypotonia, joint symptoms at birth, elevated liver enzymes at 5 months, no abnormalities in the heart and respiratory system, and EMG examination suggested myogenic damage. Liver biopsy results showed extensive hepatocyte degeneration with inclusion bodies and bridging fibrosis, consistent with glycogen accumulation disease type IV. Gene detection results showed that there were two missense mutations in the GBE1 gene, c.475C>T, p.Pro159Leu and c.1229T>G, p.Ile410Arg, are compound heterozygous mutations, and parents are carriers. As of December 2018, a total of 16 foreign literatures and 6 Chinese documents were retrieved. So far, there have been 61 cases of GSD IV type reported globally, including 22 cases of liver type, 39 cases of neuromuscular type, and 13 cases of domestic reports, all of which are liver type. Neuromuscular clinical manifestations were significantly different. This case is the first type of neurogenic muscle type of glycogen accumulation disease reported in China.
glycogen storage disease IV; Anderson disease; neuromuscular disorder; GBE1 gene