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Case Report
Volume 5 Issue 3 - 2020
Unusual Case of Beckwith-Wiedemann Syndrome with Spontaneous Resolution of a Hepatic Mass
Misha Sodhi1, Dineeta Kubhar2, Shilpa Mehta1, Lucy Chang2, Naomi Yachelevich3 and Bina Shah1*
1Division of Pediatric Endocrinology, Department of Pediatrics, New York University School of Medicine, New York, NY, USA
2Department of Pediatrics, New York University School of Medicine, New York, NY, USA
3Division of Genetics, New York University School of Medicine, New York, NY, USA
*Corresponding Author: Bina C Shah, Division of Pediatric Endocrinology, Department of Pediatrics, New York University School of Medicine, New York, NY, USA.
Received: January 31, 2020; Published: February 27, 2020




Abstract

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth syndrome with risk for embryonal tumors. Over expression of paternal growth promoters and decreased expression of maternal growth suppressors are believed to underlie these tumors. We report a full term, large for date female with BWS. Initial serum alpha fetoprotein (AFP) was 36,790 ng/ml (1,212 - 49,039 ng/ml) on day of life (DOL) 7, which increased to 119,797 ng/ml (704-29,027 ng/ml) by DOL19, warranting evaluation to rule out hepatoblastoma. Abdominal ultrasound (US) and MRI on DOL 20 showed no mass. Thereafter, serial AFP levels quickly declined: 91,681 ng/ml at 1 month, 24092 ng/ml at 2 months, 1207 ng/ml at 3 months of age but the abdominal US at age 3 months (done as part of surveillance) showed a mass in the right lobe of the liver. A repeat US at 3.5 months showed an increase in the size of the mass despite down trending serum AFP (785 ng/ml), and features of a vascular lesion (Hemangioma). Vigilant follow up with US and AFP was continued given the high risk of tumors. Imaging showed a decrease in size of the hepatic mass starting at 4 months of age and complete resolution by 9 months of age; confirming an involuting hemangioma. In conclusion, this is an unusual case of an isolated hepatic hemangioma associated with BWS that spontaneously resolved. Hemangiomas should be considered in the differential of hepatic masses especially with discordant AFP levels.

Keywords: Beckwith-Wiedemann Syndrome; Spontaneous Resolution; Hepatic Mass

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Citation: Bina Shah., et al. “Unusual Case of Beckwith-Wiedemann Syndrome with Spontaneous Resolution of a Hepatic Mass”. EC Endocrinology and Metabolic Research 5.2 (2020): 01-08.

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