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.

Source: Pediatrics International - May 5, 2015 Category: Pediatrics Authors: Yuji Gohda, Shohki Oka, Takamoto Matsunaga, Satoshi Watanabe, Koh‐ichiro Yoshiura, Tatsuro Kondoh, Tadashi Matsumoto Tags: Patient Report Source Type: research