Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.

TitleNeonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.
Publication TypeJournal Article
Year of Publication2015
AuthorsGohda Y, Oka S, Matsunaga T, Watanabe S, Yoshiura K-ichiro, Kondoh T, Matsumoto T
JournalPediatr Int
Date Published2015 May 5
ISSN1442-200X
Abstract

A newborn Japanese girl with Kabuki syndrome had neonatal persistent hyperinsulinemic hypoglycemia, which seemed to be a rare complication of Kabuki syndrome. On sequence analysis she was found to have a novel heterozygous KMT2D mutation. Diazoxide therapy was effective for the hypoglycemia. Hypoglycemia should be considered when Kabuki syndrome patients have convulsion or other non-specific symptoms. Diazoxide may help to improve hypoglycemia in patients with Kabuki syndrome complicated with hyperinsulinemic hypoglycemia.

DOI10.1111/ped.12574
Alternate JournalPediatr Int
Citation Key1581
PubMed ID25944076