Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A

To the best of our knowledge, we report a case of MEN2A complicated by moyamoya syndrome. A 52-year-old woman presented with vertigo. Magnetic resonance angiography (MRA) revealed bilateral supraclinoid stenosis of the internal carotid artery and abnormal moyamoya-like vessels around the basal gangl...

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Autores principales:	Fumihiro Matano, Yasuo Murai, Atsushi Watanabe, Kazutaka Shirokane, Takehito Igarashi, Kazuo Shimizu, Takashi Shimada, Akio Morita
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	MEN2A moyamoya syndrome pheochromocytoma RET gene RNF-213 Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/d772d73b296d4e7ba2289e41f47a8827
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spelling	oai:doaj.org-article:d772d73b296d4e7ba2289e41f47a88272021-11-11T08:29:56ZCase Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A1664-239210.3389/fendo.2021.703410https://doaj.org/article/d772d73b296d4e7ba2289e41f47a88272021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fendo.2021.703410/fullhttps://doaj.org/toc/1664-2392To the best of our knowledge, we report a case of MEN2A complicated by moyamoya syndrome. A 52-year-old woman presented with vertigo. Magnetic resonance angiography (MRA) revealed bilateral supraclinoid stenosis of the internal carotid artery and abnormal moyamoya-like vessels around the basal ganglia. She had a heterozygous variant of RNF213, which is the susceptibility gene for moyamoya disease. She had also previously received diagnoses of medullary thyroid carcinoma (MTC) at age 23 and left-sided pheochromocytoma (PHEO) at age 41. Genetic testing revealed heterozygosity for a mutation at codon 634 in exon 11 (TGC-TTC mutation; p.Cys634Phe) of the Ret gene. Intracranial vascular stenosis may have been caused by a genetic mutation of RNF213 and hypersecretion of catecholamines by MEN2A. Physicians should recognize that MEN2A can be present with moyamoya syndrome.Fumihiro MatanoYasuo MuraiAtsushi WatanabeKazutaka ShirokaneTakehito IgarashiKazuo ShimizuTakashi ShimadaAkio MoritaFrontiers Media S.A.articleMEN2Amoyamoya syndromepheochromocytomaRET geneRNF-213Diseases of the endocrine glands. Clinical endocrinologyRC648-665ENFrontiers in Endocrinology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	MEN2A moyamoya syndrome pheochromocytoma RET gene RNF-213 Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	MEN2A moyamoya syndrome pheochromocytoma RET gene RNF-213 Diseases of the endocrine glands. Clinical endocrinology RC648-665 Fumihiro Matano Yasuo Murai Atsushi Watanabe Kazutaka Shirokane Takehito Igarashi Kazuo Shimizu Takashi Shimada Akio Morita Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A
description	To the best of our knowledge, we report a case of MEN2A complicated by moyamoya syndrome. A 52-year-old woman presented with vertigo. Magnetic resonance angiography (MRA) revealed bilateral supraclinoid stenosis of the internal carotid artery and abnormal moyamoya-like vessels around the basal ganglia. She had a heterozygous variant of RNF213, which is the susceptibility gene for moyamoya disease. She had also previously received diagnoses of medullary thyroid carcinoma (MTC) at age 23 and left-sided pheochromocytoma (PHEO) at age 41. Genetic testing revealed heterozygosity for a mutation at codon 634 in exon 11 (TGC-TTC mutation; p.Cys634Phe) of the Ret gene. Intracranial vascular stenosis may have been caused by a genetic mutation of RNF213 and hypersecretion of catecholamines by MEN2A. Physicians should recognize that MEN2A can be present with moyamoya syndrome.
format	article
author	Fumihiro Matano Yasuo Murai Atsushi Watanabe Kazutaka Shirokane Takehito Igarashi Kazuo Shimizu Takashi Shimada Akio Morita
author_facet	Fumihiro Matano Yasuo Murai Atsushi Watanabe Kazutaka Shirokane Takehito Igarashi Kazuo Shimizu Takashi Shimada Akio Morita
author_sort	Fumihiro Matano
title	Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A
title_short	Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A
title_full	Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A
title_fullStr	Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A
title_full_unstemmed	Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A
title_sort	case report: a case of moyamoya syndrome associated with multiple endocrine neoplasia type 2a
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/d772d73b296d4e7ba2289e41f47a8827
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Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A

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