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Case 30-2022: A Newborn Girl with Hypoglycemia

Authors:
Sarbattama Sen, Sjirk J. Westra, Juan D. Matute, Jordan S. Sherwood, Frances A. High, Melanie C. Kwan

Abstract

A newborn girl was admitted with severe neonatal hypoglycemia. Imaging revealed a presacral mass diagnosed as a sacrococcygeal teratoma containing ectopic pancreatic tissue. Persistent hyperinsulinism following resection led to a genetic diagnosis of Sotos syndrome. The case highlights the dual etiology of hypoglycemia involving both a biologically active tumor and a genetic syndrome.

Keywords: neonatal hypoglycemia sacrococcygeal teratoma hyperinsulinism Sotos syndrome NSD1 mutation
DOI: https://doi.ms/10.00420/ms/1801/SCZRX/IVN | Volume: 387 | Issue: 13 | Views: 0
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