Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: Few clinical features suggestive of Beckwith-Wiedemann syndrome

Hiroyuki Adachi; Ikuko Takahashi; Ken Higashimoto; Satoko Tsuchida; Atsuko Noguchi; Hiroaki Tamura; Hirokazu Arai; Tomoo Ito; Michiya Masue; Hironori Nishibori; Tsutomu Takahashi; Hidenobu Soejima

doi:10.1507/endocrj.EJ12-0242

ORIGINALS

Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: Few clinical features suggestive of Beckwith-Wiedemann syndrome

Hiroyuki Adachi, Ikuko Takahashi, Ken Higashimoto, Satoko Tsuchida, Atsuko Noguchi, Hiroaki Tamura, Hirokazu Arai, Tomoo Ito, Michiya Masue, Hironori Nishibori, Tsutomu Takahashi, Hidenobu Soejima

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Keywords: Beckwith-Wiedemann syndrome, Congenital hyperinsulinism, ¹⁸F-fluoro-L-DOPA positron emission tomography, Uniparental disomy 11p15

JOURNAL FREE ACCESS

2013 Volume 60 Issue 4 Pages 403-408

DOI https://doi.org/10.1507/endocrj.EJ12-0242

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Abstract

Beckwith-Wiedemann syndrome (BWS) is the most common congenital overgrowth syndrome involving tumor predisposition. BWS is caused by various epigenetic or genetic alterations that disrupt the imprinted genes on chromosome 11p15.5 and the clinical findings of BWS are highly variable. Hyperinsulinemic hypoglycemia is reported in about half of all babies with BWS. We identified an infant with diazoxide-unresponsive congenital hyperinsulinism (HI) without any apparent clinical features suggestive of BWS, but diagnosed BWS by molecular testing. The patient developed severe hyperinsulinemic hypoglycemia within a few hours after birth, with macrosomia and mild hydronephrosis. We excluded mutations in the K_ATP channel genes on chromosome 11p15.1, but found a rare homozygous single nucleotide polymorphism (SNP) of ABCC8. Parental SNP pattern suggested paternal uniparetal disomy in this region. By microsatellite marker analysis on chromosome 11p15, we could diagnose BWS due to the mosaic of paternal uniparental disomy. Our case suggests that some HI of unknown genetic etiology could involve undiagnosed BWS with no apparent clinical features, which might be diagnosed only by molecular testing.

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