THY Tan, KL Ng

Abstract

Congenital hyperinsulinism is the most common cause of persistent hypoglycaemia in infancy, with neonatal onset having the worst neurological prognosis. This case describes a compound homozygous KATP channel mutation that was managed conservatively without pancreatectomy in a child with good neurological outcome.

先天性高胰島素血症是嬰兒持續性低血糖最常見的病因，新生兒期發病有可能會造成神經系統方面嚴重的後遺症。本病例報導了一例伴有KATP複合純合子突變的患兒，在未進行胰腺切除手術的保守治療下，取得很好的神經系統方面的預後。