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

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.

• Authors: Yuji Gohda, Shohki Oka, Takamoto Matsunaga, Satoshi Watanabe, Koh-ichiro Yoshiura, Tatsuro Kondoh, Tadashi Matsumoto
• Journal: Pediatrics international : official journal of the Japan Pediatric Society (Pediatr Int) Vol. 57 Issue 4 Pg. 726-8 (Aug 2015) ISSN: 1442-200X [Electronic] Australia
• PMID: 25944076 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2015 Japan Pediatric Society.

Chemical References

• Blood Glucose
• DNA-Binding Proteins
• KMT2D protein, human
• Neoplasm Proteins
• Diazoxide

Topics

• Abnormalities, Multiple (diagnosis, drug therapy, genetics)
• Blood Glucose
• Congenital Hyperinsulinism (diagnosis, drug therapy, genetics)
• DNA-Binding Proteins (genetics)
• Developmental Disabilities (genetics)
• Diazoxide (therapeutic use)
• Face (abnormalities)
• Female
• Hematologic Diseases (diagnosis, drug therapy, genetics)
• Humans
• Infant, Newborn
• Neoplasm Proteins (genetics)
• Sequence Analysis, DNA
• Sequence Deletion
• Vestibular Diseases (diagnosis, drug therapy, genetics)