Saito Tomohiro, Nakane Takaya, Narusawa Munenori, Yagasaki Hideaki, Nemoto Atsushi, Naito Atsushi, Sugita Kanji
Neonatology Unit, Yamanashi Prefectural Central Hospital, Yamanashi, Japan.
Department of Pediatrics, University of Yamanashi, Yamanashi, Japan.
Am J Med Genet A. 2018 May;176(5):1222-1224. doi: 10.1002/ajmg.a.38674.
Proteus syndrome (PS) is characterized by the progressive, segmental, or patchy overgrowth of the skin, and other tissues. This is the first case report of recurrent severe insulin-independent hypoglycemia in an infant with PS. Somatic p.E17K of AKT1 mutation was confirmed. The patient also had a giant umbilical cord, which has not yet been reported in PS.
变形综合征（PS）的特征是皮肤和其他组织进行性、节段性或斑片状过度生长。这是首例关于患有PS的婴儿反复出现严重非胰岛素依赖型低血糖症的病例报告。已证实存在AKT1基因的体细胞p.E17K突变。该患者还患有巨大脐带，这在PS中尚未见报道。
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