Year: 2025
Type: article
Study design: Case Report
Abstract: Rogers syndrome, also known as thiamine-responsive megaloblastic anemia (TRMA), is a rare autosomal recessive disorder characterized by diabetes mellitus (DM), sensorineural hearing loss, and megaloblastic anemia responsive to thiamine supplementation. Moyamoya disease is a progressive steno-occlusive cerebrovascular disorder involving stenosis of the terminal internal carotid arteries with subsequent formation of fragile collateral vessels, resulting in ischemic or hemorrhagic strokes. We present the first documented case of the co-occurrence of Rogers syndrome and moyamoya disease, involving a 22-year-old female who presented with altered mental status, left-sided weakness, and delayed speech. Neuroimaging revealed acute infarction of the corpus callosum and bilateral watershed territories, manifesting as callosal disconnection syndrome. The patient underwent combined direct and indirect revascularization procedures followed by multidisciplinary rehabilitative care. This report underscores the complex interplay of rare genetic, metabolic, and vascular factors leading to atypical stroke presentations and highlights the importance of thorough evaluation and coordinated multidisciplinary management in young patients with syndromic cerebrovascular disease.
Source: Cureus
DOI: 10.7759/cureus.94194
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4414985235