Costello Syndrome and hyperinsulinemic hypoglycemia

被引：38

作者：

Alexander, S

Ramadan, D

Alkhayyat, H

Al-Sharkawi, I

Backer, KCA

El-Sabban, F

Hussain, K

机构：

[1] UCL, Inst Child Hlth, Unit Biochem Endocrinol & Metab, London WC1N 1EH, England

[2] Great Ormond St Hosp Sick Children, London Ctr Pediat Endocrinol & Metab, London WC1N 3JH, England

[3] Sabah Hosp, Dept Paediat, Endocrine Unit, Sabah, Kuwait

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2005年 / 139A卷 / 03期

关键词：

Costello syndrome; hypoglycemia; hyperinsulinism;

D O I：

10.1002/ajmg.a.31011

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Costello syndrome is characterized by mental retardation, loose skin, coarse facies, skeletal abnormalities, cardiovascular abnormalities (congenital heart defects, cardiomyopathy, rhythm disturbances), and predisposition to neoplasia. Endocrine abnormalities including growth hormone deficiency, adrenal insufficiency, glucose intolerance, parathyroid adenoma with byperprolactinemia and hypoglycemia have been described. Hypoglycemia has been documented due to growth hormone and cortisol deficiency. We report on two patients with Costello syndrome and persistent hyperinsulinemic hypoglycemia and review the endocrine manifestations of Costello syndrome. Both patients required diazoxide therapy to stop the unregulated insulin secretion and maintain normoglycemia. The mechanism of persistent hyperinsulinism in patients with Costello syndrome is unclear. (c) 2005 Wiley-Liss, Inc.

引用

页码：227 / 230

页数：4

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