Two patients with Kabuki syndrome presenting with endocrine problems

A 4 year-old boy with mental retardation and seizures presented to the pedi atric endocrinology clinic because of a history of hypoglycemia; a 16 month -old girl with developmental delay presented with bilateral breast tissue e nlargement; in both, a diagnosis of Kabuki syndrome was made because of typ ical facial features, neurodevelopmental delay and other stigmata consisten t with Kabuki syndrome. Kabuki syndrome is a mental retardation-malformatio n syndrome affecting multiple organ systems with a broad spectrum of abnorm alities, The facial features of the syndrome are specific and independent o f ethnic origin, In addition to presenting with endocrine problems, the pat ients reported here exhibit some novel findings such as congenital alopecia areata and hyperpigmented skin lesion. The diagnosis of Kabuki syndrome sh ould be considered in patients with hypoglycemia or premature thelarche whe n associated with developmental delay and a peculiar facies.