Rinku Moni GOGOI, Siddharth CHAND, Nitin SOOD, Chanchal GOYAL, Vinay GOYAL
Journal of Current Hematology & Oncology Research - 2026;4(2):70-73
Our aim is to report a rare case of beta Thalassemia major with Moya Moya syndrome (MMS) presenting as acute ischemic stroke who was managed with encephaloduroarteriomyosynangiosis (EDAMS). MMS is an intracranial angiopathy with progressive stenosis of the distal portion of internal carotid artery (ICA) causing development of small collaterals traversing the basal ganglia and thalamus, giving "puff of smoke" appearance. MMS presents commonly as ischemic stroke in children and haemorrhagic stroke in adults. There are only few reported cases of MMS associated with Thalassemia. We obtained an informed consent form from the patient involved. All procedures were carried out in accordance with the ethical rules and the principles of the Declaration of Helsinki. A 23-year-male with beta thalassemia major, diagnosed at 9 months of age on intermittent blood transfusion till the age of 22 years followed by chemotherapy (thalidomide 50 mg once daily). After chemotherapy he did not require transfusion. He presented with acute confusional and dysarthria for 10-12 days. On examination, he had mild pallor and hepatosplenomegaly. MRI Brain showed multiple acute infarcts in left parietal, left centrum semi ovale and corona radiata along with multifocal chronic infarcts. DSA showed Moya Moya like phenomenon, Suzuki grade IV. He was treated with single antiplatelet (acetyl salicylate 75 mg/day) and other supportive measures. Left sided (EDAMS) was done 1 month after stroke, which he tolerated well. We plan to re-introduce thalidomide on follow-up. MMS along with beta-thalassemia major is rare. Any neurological symptom indicating possible stroke warrants neuroimaging like MRI Brain and angiography of head-neck vessels in order to exclude MMS or other occlusive arteriopathy. Our case is unique as apart from MMS being rare in Thalassemia, very few such cases undergo surgical revascularization management.
