Beta-Thalassemia Presenting as Moyamoya Syndrome With a Review of Skeletal Manifestations

Moyamoya angiopathy (MMA) is a progressive vasculopathy characterized by slowly progressive stenosis involving the proximal portions of the major intracranial arteries, resulting in strokes and intracranial hemorrhages. If it occurs secondary to a known cause, it is called Moyamoya syndrome (MMS). Here, we describe the case of a five-year-old male child who presented to us with symptoms of stroke and, upon evaluation, revealed Moyamoya angiopathy. He was further evaluated, and it was found that MMA occurred as a complication of undetected beta-thalassemia. Thalassemia is an autosomal recessive blood disorder where there is a defect in hemoglobin production. It affects 100 to 150 thousand children in the Indian subcontinent. It is classified into two main types: alpha thalassemia and beta thalassemia, depending on which globin chain is affected. It primarily presents with symptoms of anemia such as easy fatiguability, dizziness, jaundice, or breathlessness. The occurrence of Moyamoya syndrome in beta-thalassemia is extremely rare, and it is extremely important to identify MMS at the earliest as it can cause long-term disabilities. We describe the imaging findings in MMS and the various classical skeletal radiographic findings in thalassemia that were seen in our patient.