Moyamoya Disease how to diagnose in adults
Moyamoya disease is a rare, progressive cerebrovascular disorder characterized by the narrowing or occlusion of arteries at the base of the brain, particularly the internal carotid arteries and their main branches. This constriction causes the development of a network of tiny, fragile blood vessels that attempt to compensate for reduced blood flow, giving a “puff of smoke” appearance on imaging—hence the name “moyamoya,” which means “hazy” or “puff of smoke” in Japanese. While often diagnosed in children, Moyamoya can also present in adults, with unique challenges in diagnosis due to its varied symptomatology.
In adults, Moyamoya disease may manifest through a range of neurological symptoms, often mimicking other cerebrovascular conditions. Common presentations include transient ischemic attacks (TIAs), strokes, seizures, and sometimes progressive neurological deficits. Unlike children, who often present with ischemic symptoms, adults may experience both ischemic and hemorrhagic events because of the fragile new vessels prone to bleeding. Recognizing these patterns is crucial for timely diagnosis.
The diagnostic process begins with a detailed clinical history and neurological examination. Adults may report episodes of weakness, numbness, difficulty speaking, or visual disturbances, often occurring unpredictably. The history might also include risk factors such as a family history of cerebrovascular disease, previous strokes, or certain medical conditions like sickle cell anemia, which has been linked to Moyamoya.
Imaging studies are vital for confirming the diagnosis. The initial step typically involves non-invasive techniques such as magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA). MRI can reveal areas of recent ischemia or infarction, while MRA provides detailed visualization of the cerebral arteries, highlighting areas of stenosis or occlusion. These imaging modalities often reveal the characteristic “puff of smoke” collateral vessel formation.
However, digital subtraction angiography (DSA) remains the gold standard in diagnosing Moyamoya disease. DSA offers high-resolution images of cerebral vasculature, allowing clinicians to assess the extent of arterial narrowing, the pattern of collateral vessel development, and rule out other vascular abnormalities. It provides critical information not only for diagnosis but also for planning potential surgical interventions.
Additional tests may include transcranial Doppler ultrasound, which evaluates blood flow velocities in cerebral arteries, and blood work to exclude other causes of cerebrovascular disease. Sometimes, cerebral perfusion studies such as SPECT or PET scans are employed to determine the severity of ischemia and guide treatment decisions.
Early diagnosis is essential to prevent recurrent strokes and neurological decline. Recognizing the disease in adults requires a high degree of suspicion, especially in patients presenting with unexplained TIAs or strokes, particularly if imaging shows characteristic vascular changes. Multidisciplinary management involving neurologists, neurosurgeons, and radiologists is crucial for comprehensive care and consideration of surgical options like revascularization procedures.
In summary, diagnosing Moyamoya disease in adults hinges on a combination of clinical suspicion and advanced imaging techniques. Prompt identification allows for appropriate management strategies to reduce stroke risk and improve quality of life for affected individuals.
