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Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia
Yuji Gohda1, Shohki Oka1, Takamoto Matsunaga2
1Department of Pediatrics, Sasebo Kyosai Hospital, Sasebo, Japan.
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.
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