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

• DOI: 10.1507/endocrj.ej12-0242
• Publication Date: 2012-11-30T22:56:23Z
• Authors: Hiroyuki Adachi; Ikuko Takahashi; Ken Higashimoto; Satoko Tsuchida; Atsuko Noguchi; Hiroaki Tamura; Hirokazu Arai; Tomoo Ito; Michiya Masue; Hironori Nishibori; Tsutomu Takahashi; Hidenobu Soejima
• Keywords: Beckwith–Wiedemann syndrome; Hyperinsulinemic hypoglycemia; Uniparental disomy; Macroglossia; Congenital hyperinsulinism; Genomic Imprinting

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