Moyamoya syndrome in a 6-year-old β-thalassemia major patient: A case report

Moyamoya disease (MMD) is a rare, chronic cerebrovascular disorder involving progressive bilateral stenosis of the internal carotid artery and its branches, forming abnormal collateral networks that appear as a "puff of smoke" on angiography. <b>While the term MMD is used when the condition is idiopathic, it is called moyamoya syndrome (MMS) when associated with underlying systemic conditions</b>. Reports of MMS with β-thalassemia major are rare, with fewer than 6 cases documented; herein, we report a case of a 6-year-old female, a known case of β-thalassemia major, who exhibited left-sided hemiparesis, revealing radiological and clinical features consistent with MMS. MRI, CTA, EEG, and Echocardiography were used as diagnostic workups to confirm the diagnosis. The patient was treated with hyper-transfusion therapy and pharmacological management, with an ongoing consideration of surgical intervention. The rarity of the occurrence of moyamoya syndrome in β-thalassemia major patients has been discussed, with emphasis on the importance of early recognition and intervention to mitigate neurological complications. This case contributes to the limited literature on β-thalassemia major and MMS occurring together, underscoring the need for heightened clinical awareness and timely management strategies.