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- Title
Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A.
- Authors
Matano, Fumihiro; Murai, Yasuo; Watanabe, Atsushi; Shirokane, Kazutaka; Igarashi, Takehito; Shimizu, Kazuo; Shimada, Takashi; Morita, Akio
- Abstract
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.
- Subjects
MOYAMOYA disease; TUMORS; MAGNETIC resonance angiography; GENETIC mutation; GENETIC variation; INTERNAL carotid artery
- Publication
Frontiers in Endocrinology, 2021, Vol 12, p1
- ISSN
1664-2392
- Publication type
Article
- DOI
10.3389/fendo.2021.703410