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Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome
Author(s) -
Saito Tomohiro,
Nakane Takaya,
Narusawa Munenori,
Yagasaki Hideaki,
Nemoto Atsushi,
Naito Atsushi,
Sugita Kanji
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38674
Subject(s) - hypoglycemia , umbilical cord , proteus syndrome , medicine , pediatrics , proteus , insulin , endocrinology , anatomy , biology , dermatology , genetics , escherichia coli , gene
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.