Puff of Smoke' In A Young Brain: A Classic Imaging Sign of Moyamoya Disease – Case Report

Abstract : Moyamoya disease is a rare and progressive cerebrovascular disorder marked by the occlusion or blockage of the distal internal carotid arteries and their main branches. In response, the brain develops a network of fragile collateral vessels, which appear as a “puff of smoke” on angiographic imaging—a characteristic feature that inspired the disease’s name. The condition primarily affects children and young adults, often presenting with transient ischemic attacks, strokes, seizures, or cerebral haemorrhage. Although the underlying mechanisms are not fully understood, genetic factors, particularly mutations in the RNF213 gene, have been closely associated with disease susceptibility, The major susceptibility gene for moyamoya disease in people investigation into the mechanisms of disease and potential treatment targets. The Arg4810Lys variant of the gene is most strongly associated with moyamoya disease, but the penetrance is lower than 1%, suggesting a synergistic relationship with additional environmental and genetic risk factors. A 11-year-old female patient presented with the complaints of sudden onset of left upper limb and lower limb transient weakness associated with bowel incontinence patient has a past medical history of seizures since 10 months with multiple seizure episodes Diagnostic evaluation typically involves magnetic resonance imaging, magnetic resonance angiography, and digital subtraction angiography, the latter of which remains the gold standard. Treatment strategies are primarily surgical, with revascularization procedures—either direct, indirect, or combined approaches—aimed at improving cerebral blood flow and reducing the risk of ischemic events . Based on laboratory investigations and radiological reports case was diagnosed as MOYAMOYA DISEASE preoperative and anaesthesia clearance patient was taken up for STA-MCA bypass (Superficial Temporal Artery to Middle Cerebral Artery Bypass) associated treatment with perivascular sympathectomy and superior cervical ganglionectomy may be useful but more investigation needs to be carried out into the pathogenesis of the disease before more definitive therapy is realized. This review outlines the latest developments in the understanding, diagnosis, and management of Moyamoya disease, with attention to its genetic background and surgical outcomes.