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本文引用的文献

1
Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1).《多发性内分泌肿瘤 1 型(MEN1)临床实践指南》。
J Clin Endocrinol Metab. 2012 Sep;97(9):2990-3011. doi: 10.1210/jc.2012-1230. Epub 2012 Jun 20.
2
Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing.MEN1基因突变的检测取决于临床特征,并支持当前诊断性分子遗传学检测的转诊标准。
Clin Endocrinol (Oxf). 2005 Feb;62(2):169-75. doi: 10.1111/j.1365-2265.2005.02190.x.
3
Genotype-phenotype analysis in multiple endocrine neoplasia type 1.1型多发性内分泌腺瘤病的基因型-表型分析
Arch Surg. 2002 Jun;137(6):641-7. doi: 10.1001/archsurg.137.6.641.
4
The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1.
Surgery. 1998 Dec;124(6):1106-13; discussion 1113-4. doi: 10.1067/msy.1998.93107.
5
Multiple endocrine neoplasia type 1: clinical and genetic topics.1型多发性内分泌腺瘤病:临床与遗传学专题
Ann Intern Med. 1998 Sep 15;129(6):484-94. doi: 10.7326/0003-4819-129-6-199809150-00011.
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Clinical studies of multiple endocrine neoplasia type 1 (MEN1).1型多发性内分泌腺瘤病(MEN1)的临床研究。
QJM. 1996 Sep;89(9):653-69. doi: 10.1093/qjmed/89.9.653.

1型多发性内分泌肿瘤伴难治性癫痫发作

Multiple endocrine neoplasia type 1 presenting with refractory seizures.

作者信息

Kumawat Banshi Lal, Sharma Chandramohan, Shah Mohit Janakkumar, Panchal Maulik

机构信息

Department of Neurology, Sawai Mansingh Medical College and Hospital, Jaipur, India.

出版信息

BMJ Case Rep. 2017 Nov 1;2017:bcr-2016-218982. doi: 10.1136/bcr-2016-218982.

DOI:10.1136/bcr-2016-218982
PMID:29092962
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5695526/
Abstract

We report a case of 29-year-old woman referred to us for management of refractory epilepsy. Under observation, she was detected to have recurrent hypoglycaemia during the episodes of seizures. On investigation, she was found to have hyperinsulinemic hypoglycaemia. Her triple-phase CT scan of abdomen showed neuroendocrine tumour of pancreatic head, with bilateral renal calculi. Screening of other endocrine glands revealed pituitary microadenoma and parathyroid adenoma on imaging, which was also supported by biochemical and hormonal profile. On the basis of tumours involving parathyroid, pancreatic islets and pituitary gland, she was diagnosed as a case of multiple endocrine neoplasia type 1. Pancreatic tumour removal was done and bromocriptine was started. She was followed up for 6 months postoperatively and never had seizures even without antiepileptic drugs. This case report highlights an exceptional treatable cause of uncontrolled seizures.

摘要

我们报告一例29岁女性,因难治性癫痫转诊至我院。在观察期间,发现她在癫痫发作时反复出现低血糖。经检查,发现她患有高胰岛素血症性低血糖。她的腹部三相CT扫描显示胰头神经内分泌肿瘤,伴有双侧肾结石。对其他内分泌腺的筛查显示影像学上有垂体微腺瘤和甲状旁腺腺瘤,生化和激素检查结果也支持这一发现。基于涉及甲状旁腺、胰岛和垂体的肿瘤,她被诊断为1型多发性内分泌肿瘤。进行了胰腺肿瘤切除,并开始使用溴隐亭。术后对她进行了6个月的随访,即使未使用抗癫痫药物,她也从未再次发作。本病例报告强调了一种可治疗的导致癫痫失控的特殊原因。