Frontiers in Endocrinology (Nov 2021)

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

  • Fumihiro Matano,
  • Yasuo Murai,
  • Atsushi Watanabe,
  • Kazutaka Shirokane,
  • Takehito Igarashi,
  • Kazuo Shimizu,
  • Takashi Shimada,
  • Akio Morita

DOI
https://doi.org/10.3389/fendo.2021.703410
Journal volume & issue
Vol. 12

Abstract

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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.

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