Moyamoya disease

Moyamoya disease-MRI T1

Moyamoya disease

Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name "moyamoya" means "puff of smoke" in Japanese, which describes the appearance of the tangled vessels that form to compensate for the blockage.

Signs and Symptoms

The symptoms of Moyamoya disease vary depending on the age of the patient. In children, the most common symptom is ischemic stroke or recurrent transient ischemic attacks (TIAs), often referred to as "mini-strokes," which are caused by the lack of blood flow to the brain. Adults may experience these symptoms as well, but they are more likely to suffer from hemorrhagic strokes due to recurrent bleeding in the brain.

Other symptoms may include:

• Headache
• Seizures
• Weakness or numbness in limbs
• Difficulties with speech or understanding speech (aphasia)
• Vision problems
• Cognitive and developmental delays in children

Causes

The exact cause of Moyamoya disease is unknown. However, it is believed to have a genetic component, as it is more common in individuals of Asian descent, particularly those from Japan, Korea, and China. It can also be associated with other conditions such as Down syndrome, neurofibromatosis type 1, and sickle cell disease.

Diagnosis

Diagnosis of Moyamoya disease typically involves a combination of imaging studies, including:

• Magnetic resonance imaging (MRI)
• Magnetic resonance angiography (MRA)
• Computed tomography (CT) scan
• Cerebral angiography

These imaging techniques help visualize the characteristic "puff of smoke" appearance of the blood vessels and assess the extent of the disease.

Treatment

There is no cure for Moyamoya disease, but treatment focuses on managing symptoms and preventing strokes. Treatment options include:

• Medications to reduce the risk of stroke, such as anticoagulants and antiplatelet drugs
• Surgical procedures to improve blood flow to the brain, such as:

 * Direct revascularization (e.g., superficial temporal artery to middle cerebral artery bypass)
 * Indirect revascularization (e.g., encephaloduroarteriosynangiosis (EDAS), encephalomyosynangiosis (EMS))

Prognosis

The prognosis for individuals with Moyamoya disease varies. Early diagnosis and treatment can improve outcomes and reduce the risk of stroke. However, the disease can lead to significant neurological impairment and disability if not managed properly.

Related Pages

• Stroke
• Basal ganglia
• Ischemic stroke
• Hemorrhagic stroke
• Transient ischemic attack
• Neurofibromatosis type 1
• Sickle cell disease