Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia
Pediatrics International2015Vol. 57(4), pp. 726–728
Citations Over TimeTop 20% of 2015 papers
Yuji Gohda, Shohki Oka, Takamoto Matsunaga, Satoshi Watanabe, Koh‐ichiro Yoshiura, Tatsuro Kondoh, Tadashi Matsumoto
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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