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 , 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 gene. Intracranial vascular stenosis may have been caused by a genetic mutation of and hypersecretion of catecholamines by MEN2A. Physicians should recognize that MEN2A can be present with moyamoya syndrome.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8632216 | PMC |
| http://dx.doi.org/10.3389/fendo.2021.703410 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Introducing an index on prediction of post-revascularization cerebral infarction using preoperative CT perfusion parameters in moyamoya disease.
Insights Imaging
January 2025
Department of Radiology, The First Affiliated Hospital of Wannan Medical College, Wuhu, PR China.
Objective: To determine the value of preoperative CT perfusion (CTP) parameters for prediction of post-revascularization cerebral infarction (post-CI) in adults with moyamoya disease (MMD).
Methods: This retrospective study included 92 adults with MMD who underwent surgical revascularization. Preoperative quantitative CTP parameters, including cerebral blood flow (CBF), cerebral blood volume (CBV), mean transit time (MTT), time to drain (TTD), and transit time to maximum of the residue function (Tmax), along with clinical data, were compared between the groups with and without post-CI.
Impact of RNF213 p.R4810K variant on postoperative temporal muscle swelling used in encephalo-myo-synangiosis after combined revascularization for Moyamoya disease.
Neurosurg Rev
December 2024
Department of Neurosurgery, Hokkaido University, Sapporo, Japan.
Postoperative neurological deterioration due to brain compression by the swollen temporal muscle pedicle used in encephalo-myo-synangiosis (EMS) is a potential complication of combined revascularization for Moyamoya disease (MMD). However, the factors contributing to this phenomenon remain poorly understood. This study aimed to identify factors associated with postoperative temporal muscle swelling following combined revascularization.
View Article and Find Full Text PDFNon-Invasive Diagnosis of Moyamoya Disease Using Serum Metabolic Fingerprints and Machine Learning.
Adv Sci (Weinh)
December 2024
Department of Neurosurgery, Huashan Hospital of Fudan University, Shanghai, 200040, P. R. China.
Moyamoya disease (MMD) is a progressive cerebrovascular disorder that increases the risk of intracranial ischemia and hemorrhage. Timely diagnosis and intervention can significantly reduce the risk of new-onset stroke in patients with MMD. However, the current diagnostic methods are invasive and expensive, and non-invasive diagnosis using biomarkers of MMD is rarely reported.
View Article and Find Full Text PDFAltered neurovascular coupling and structure-function coupling in Moyamoya disease affect postoperative collateral formation.
Sci Rep
December 2024
Department of Neurosurgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, Jiefang Road 88th, Hangzhou, 310009, China.
Chronic ischemia in moyamoya disease (MMD) impaired white matter microstructure and neural functional network. However, the coupling between cerebral blood flow (CBF) and functional connectivity and the association between structural and functional network are largely unknown. 38 MMD patients and 20 sex/age-matched healthy controls (HC) were included for T1-weighted imaging, arterial spin labeling imaging, resting-state functional MRI and diffusion tensor imaging.
View Article and Find Full Text PDFIn Reply to the Letter to the Editor Regarding "System Inflammation Response Index and Serum Glucose-Potassium Ratio as Prognostic Indicators for Hemorrhagic Moyamoya Disease".
World Neurosurg
December 2024
Department of Neurosurgery, The First Affiliated Hospital of Wannan Medical College (Yijishan Hospital of Wannan Medical College), Wuhu, China; The Translational Research Institute for Neurological Disorders of Wannan Medical College, Wuhu, China. Electronic address:
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!