多小脑回畸形合并低血糖提示mTOR信号通路存在突变。
Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.
作者信息
Stutterd Chloe, McGillivray George, Stark Zornitza, Messazos Betty, Cameron Fergus, White Sue, Mirzaa Ghayda, Leventer Richard
机构信息
Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Victorian Clinical Genetics Service, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Victorian Clinical Genetics Service, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Royal Women's Hospital, Melbourne, Australia.
出版信息
Eur J Med Genet. 2018 Dec;61(12):738-740. doi: 10.1016/j.ejmg.2018.06.002. Epub 2018 Jun 5.
We report a 16-month-old male with congenital megalencephaly, polymicrogyria and persistent hypoglycemia caused by a mosaic PIK3CA pathogenic variant. Hypoinsulinaemic, hypoketotic hypoglycaemia is a rare complication of pathogenic variants in the PI3K-AKT-mTOR pathway genes including AKT2, AKT3, CCND2, PIK3R2 and PIK3CA, and has been identified in a PIK3CA mutant mouse model. Our case highlights the importance of considering PI3K-AKT-mTOR pathway variants as a cause for megalencephaly and cortical malformation when the phenotype includes hypoglycaemia. Recognizing the association of hypoglycemia with PI3K-AKT-mTOR pathway variants can provide a clue to the genetic basis of the cortical malformation. Patients with megalencephaly and a cortical malformation may be considered at risk of hypoglycaemia and monitored accordingly, at least until a PI3K-AKT-mTOR pathway variant has been excluded.
我们报告了一名16个月大的男性，患有先天性巨脑畸形、多小脑回畸形和由镶嵌性PIK3CA致病变异引起的持续性低血糖。低胰岛素血症、低酮血症性低血糖是PI3K-AKT-mTOR通路基因（包括AKT2、AKT3、CCND2、PIK3R2和PIK3CA）致病变异的一种罕见并发症，并且已在PIK3CA突变小鼠模型中得到证实。我们的病例强调，当表型包括低血糖时，考虑PI3K-AKT-mTOR通路变异作为巨脑畸形和皮质畸形病因的重要性。认识到低血糖与PI3K-AKT-mTOR通路变异之间的关联可为皮质畸形的遗传基础提供线索。患有巨脑畸形和皮质畸形的患者可能被认为有低血糖风险，并应相应地进行监测，至少直到排除PI3K-AKT-mTOR通路变异。
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