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

Frontiers in Endocrinology

Kazuo Shimizu¹  Takehito Igarashi¹  Akio Morita²  Yasuo Murai²  Fumihiro Matano²  Kazutaka Shirokane²  Atsushi Watanabe³  Takashi Shimada³ 

[1] Department of Endocrine Surgery, Nippon Medical School, Tokyo, Japan;Department of Neurosurgery, Nippon Medical School, Tokyo, Japan;Division of Clinical Genetics, 3 Support Center for Genetic Medicine, Kanazawa University Hospital, Kanazawa, Japan;

关键词: MEN2A;    moyamoya syndrome;    pheochromocytoma;    RET gene;    RNF-213;   

DOI  :  10.3389/fendo.2021.703410

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown