Optic nerve hypoplasia and growth hormone deficiency in a cholestatic infant.

This report describes a 4-month-old male with cholestasis, hypoglycemia, and short stature. Symptoms appeared since neonatal age with jaundice, hypoglycemia, neurologic manifestations, and later with short stature. Laboratory investigation was indicative for cholestasis. Further research indicated isolated growth hormone deficiency with accompanying optic nerve hypoplasia. Unexplained hypoglycemia and cholestasis in neonates have to be investigated for growth hormone deficiency. Moreover, in cases with unexplained cholestasis, timely recognition of hypoglycemia is important for the early diagnosis of the disorder before the appearance of growth retardation.