Diagnosis of moyamoya disease



Moyamoya disease is basically diagnosed by both clinical symptoms and angiographic findings. When the child develop transient ischemic attack of hemiparesis, it is usually straightforward to diagnosis moyamoya disease. However, when the patient develop convulsion or involuntary movements, its diagnosis is not easy. It is sometimes experienced that the child with moyamoya disease is diagnosed as 'psychological problem' or 'autism'. Thus it happens that long time is required to reach the diagnosis of moyamoya disease.


Neuroimaging


X-ray computed tomography (CT): CT is useful to differentiate brain ischemia from brain hemorrhage in the acute stage. However, CT is not definitely diagnostic for moyamoya disease. As a non-invasive imaging, the following magnetic resonance imaging comes the first line.


Moyamoya disease is, instead, diagnosed by catheter angiography and magnetic resonance imaging (MRI).

Catheter angiography: The procedure to visualize the cerebral vessels (arteries and veins) by iodine contrast material which is injected through the small tube (catheter) introduced into the cervical arteries. This method is essentially required for the diagnosis of moyamoya disease. However, catheter angiography has an inherent risk of cerebral infarction, drug allergy, etc, although the incidence is very low. It should be cautious to perform catheter angiography because many moyamoya patients are in the pediatric age who are at higher risk for ischaemia than adults.

Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA):
To avoid the inherent risk of catheter angiography, MRI and MRA are useful and safe, although diagnostic efficacy of MRI and MRA is inferior to that of catheter angiography. Indication of both methods should be balanced in consideration of their merits and risks. Amongst moyamoya patients, children are good candidates for MRI and MRA.

There is the diagnostic criteria of moyamoya disease (the spontaneous occlusion of the circle of Willis) proposed by the research committee sponsored by the Japanese Ministry of Health, Labor and Welfare.


Diagnostic Criteria         Guideline for diagnosis using MRI and MRA


The diagnostic criteria are summarized as follows:

1. Steno-occlusive changes at the terminal portions of the intracranial internal carotid arteries and development of "moyamoya vessels" at the base of the brain.

2. The above-mentioned findings are observed bilaterally.

When the lesion is bilateral, the diagnosis of moyamoya disease is definite , but otherwise it is probable.

Exclusion criteria include arteriosclerosis, auto-immune diseases, brain tumor, head injury, post-irradiation, von Recklinghausen's disease, Down's syndrome, etc.

These criteria are proposed by Japanese research committee of moyamoya disease. Many moyamoya patients reported in the world is not based on these criteria. When the angioarchitecture is similar to that in moyamoya disease, it is called moyamoya syndrome or moyamoya phenomena.


About unilateral moyamoya disease and quasi-moyamoya disease


Cerebral blood flow and moyamoya disease

Staging of moyamoya disease (angiographic staging)

Moyamoya disease and gene

Stenosis/Occlusion of the Middle Cerebral Artery and Moyamoya