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Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome
Tomohiro Saito1, Takaya Nakane2, Munenori Narusawa2
1Neonatology Unit, Yamanashi Prefectural Central Hospital, Yamanashi, Japan.
Abstract:
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.
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