Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0494475 (tonic-clonic seizure)
1,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Insulinoma is a rare endocrine tumour in the elderly. We report the case of an 81-year-old woman suffering from grand mal seizures. Insulinoma was suspected because plasma glucose and insulin levels were 1.5 mmol/l and 80.4 pmol/l, respectively. A pancreatic computerized tomography (CT) scan, magnetic resonance imaging (MRI) and arteriography were normal but (111)In-DTPA-octreotide scintigraphy detected a hotspot in the pancreatic tail. Intraoperative pancreatic ultrasonography and palpation were non-contributory due to multiple pancreatic cysts and nodular lesions. However, a gamma-detecting probe localized a small tumour, labelled preoperatively with (111)In-DTPA-octreotide. Intraoperative insulin measurements in portal venous blood confirmed the successful removal of an insulinoma that was 6 mm in diameter histologically. Pancreatic cystic lesions increase with age and make the intraoperative localization of the insulinoma difficult. Intraoperative gamma probe detection of the tumour labelled with (111)In-DTPA-octreotide might therefore constitute a useful surgical tool.
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PMID:Intraoperative gamma probe detection of insulinoma in an elderly patient with pancreatic cystic lesions. 1235 38

Multiple endocrine neoplasia (MEN) mutation is an autosomal dominant disorder characterized by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumors. The incidence of insulinoma in MEN is relatively uncommon, and there have been a few cases of MEN manifested with insulinoma as the first symptom in children. We experienced a 9-year-old girl having a familial MEN1 mutation. She complained of dizziness, occasional palpitation, weakness, hunger, sweating, and generalized tonic-clonic seizure that lasted for 5 minutes early in the morning. At first, she was only diagnosed with insulinoma by abdominal magnetic resonance images of a 1.3 x 1.5 cm mass in the pancreas and high insulin levels in blood of the hepatic vein, but after her father was diagnosed with MEN1. We found she had familial MEN1 mutation, and she recovered hyperinsulinemic hypoglycemia after enucleation of the mass. Therefore, the early genetic identification of MEN1 mutation is considerable for children with at least one manifestation.
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PMID:Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma. 2724 13