Mesenchymal Hamartoma of the Liver in Beckwith-Wiedemann Syndrome: A Case Report
유성호, 박효진, Cho Soo-Yoen, 김종재,
소속 상세정보
유성호 ( Yoo Seong-Ho )
서울대학교 의과대학 병리학교실
박효진 ( Park Hyo-Jin )
서울대학교 의과대학 병리학교실
( Cho Soo-Yoen )
서울대학교 의과대학 병리학교실
김종재 ( Kim Jong-Jae )
서울대학교 의과대학 병리학교실
KMID : 0357920020360060425
Abstract
Beckwith-Wiedemann syndrome is a well-known overgrowth syndrome associated with the presence of a wide variety of anomalies and increased risk of cancers. Less frequently, benign neoplasms also develop. We report a female infant with Beckwith-Wiedemann syndrome who developed a mesenchymal hamartoma of the liver. The patient was born with macroglossia, ear lobe crease, and abdominal distension. Laboratory data showed hypoglycemia, and magnetic resonance image revealed both adrenal enlargement, enhancing mass of the pancreas, and multiple hepatic nodules. The histologic findings of the resected distal pancreas and both adrenals were those of Beckwith-Wiedemann syndrome. Microscopic findings of the liver biopsy specimens were compatible with mesenchymal hamartoma. Hamartoma of the urinary bladder, cardiac fibrous hamartoma, and mixed hamartoma of the liver have been documented previously in association with Beckwith-Wiedemann syndrome. However, to our knowledge, this is the first case report of hepatic mesenchymal hamartoma in Beckwith-Wiedemann syndrome. Because of the paucity of hamartomas in childhood, we should be cautious of other features of Beckwith-Wiedemann syndrome and the present case extends the spectrum of tumor formation in this syndrome.
키워드
Beckwith;Wiedemann Syndrome;Liver Neoplasms;Hamartoma
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