Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome.
Tomohiro SaitoTakaya NakaneMunenori NarusawaHideaki YagasakiAtsushi NemotoAtsushi NaitoKanji SugitaPublished in: American journal of medical genetics. Part A (2019)
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.