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两名土耳其患者的妖精貌综合征

Leprechaunism in two Turkish patients.

作者信息

Gürgey A, Göğüş S, Saatçi U, Bilginturan N, Yordam N, Coşkun T, Ozkutlu S, Sahin N

机构信息

Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.

出版信息

Turk J Pediatr. 1997 Jul-Sep;39(3):387-93.

PMID:9339119
Abstract

We report two cases of Leprechaunism with the classical features. The first case had hyperglycemia and severe hyperinsulinemia. The postmortem examination of the second child revealed enlargement of both ovaries, islet cell hyperplasia in the pancreas, and cholestasis and paucity of bile ducts in the liver. Cystic changes were noted in the ovaries, and the kidneys contained a few small cortical cysts. Both patients died at early ages.

摘要

我们报告了两例具有典型特征的矮妖精貌综合征病例。第一例有高血糖和严重高胰岛素血症。对第二个患儿的尸检显示双侧卵巢增大、胰腺胰岛细胞增生、肝脏胆汁淤积和胆管稀少。卵巢有囊性改变,肾脏有一些小的皮质囊肿。两名患者均早年死亡。

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