Moyamoya disease is a progressive disorder characterized by the narrowing and closure of arteries at the base of the brain. To compensate, tiny collateral vessels develop that resemble a "puff of smoke". The fragile collaterals can break and bleed, causing hemorrhages. Symptoms include headaches, seizures, weakness and cognitive decline. While the cause is unknown, inheritance and certain conditions increase risk. Diagnosis involves MRI/MRA and angiography. Treatment options include medications, surgical revascularization procedures, and rehabilitation. Prognosis depends on severity and treatment timing.
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1. Moyamoya disease is a progressive disorder that affects the blood
vessels in the brain (cerebrovascular).
It is characterized by the narrowing (stenosis) and/or closing
(occlusion) of the carotid artery inside the skull, a major artery that
delivers blood to the brain.
At the same time, tiny blood vessels at the base of the brain open up in
an apparent attempt to supply blood to the brain distal to the blockage.
These tiny vessels are the "moyamoya" vessels for which the disease
was named.
Moya Moya disease
2. History
The Japanese were the first to describe
the condition, and they named it
"moyamoya," the Japanese term for
"puff of smoke.“
More fragile than normal blood vessels,
the tiny moyamoya collaterals can break
and bleed into the brain, causing
hemorrhages.
Moyamoya usually affects both sides
of the brain and is often accompanied by
aneurysms.
3. Side view and top view (lower
left inset) of the brain's blood
supply. The common carotid
artery courses up the neck and
divides into the internal and
external carotid arteries. The
brain’s anterior circulation is
fed by the internal carotid
arteries (ICA) and the
posterior circulation is fed by
the vertebral arteries (VA). The
two systems connect at the
Circle of Willis by the anterior
communicating and posterior
communicating arteries.
Figure: 1
4. Narrowing of
internal carotid
arteries
Origin of Moya
moya vessels at
the base of the
brain
Increased
collateral vessels
from the scalp
Narrowing of
internal carotid
artery
Complete
blockage of
internal carotid
arteries
Progression of the disease
6. Symptoms of moya moya disease
Headache
Seizures
Weakness, numbness or paralysis in your face, arm or leg, typically on
one side of your body
Visual disturbances
Difficulties with speaking or understanding others (aphasia)
Developmental delays
Involuntary movements
Cognitive decline
7. The exact cause of moyamoya disease is unknown. Inheritance
(family history) may play a role, especially in people of Japanese
origin (10%).
Several diseases are associated with moyamoya-like changes.
Moyamoya syndrome can occur in patients with neurofibromatosis
type I, sickle cell disease, and Down’s syndrome.
Moyamoya-like changes can also occur in patients who have
undergone radiation or radiotherapy to the head and neck such as in
treatment of pituitary tumors and craniopharyngiomas.
Causes
9. Diagnosis of MMD
Magnetic Resonance Imaging (MRI) scan: An MRA (Magnetic
Resonance Angiogram) is performed during an MRI by injecting a
contrast agent into the blood stream so that arteries of the brain can be
seen.
Angiogram: Imaging is essential to identify pre-existing collateral
vessels, so that surgery, if performed, will not disrupt them. Aneurysms
or arteriovenous malformations (AVMs), known to be associated with
moyamoya, can also be detected.
Computed Tomography Angiography (CTA): This type of test
provides the best pictures of both blood vessels (through angiography)
and soft tissues (through CT).
10. What treatments are available?
Medication: For those experiencing strokes and TIAs, medications such as aspirin
may reduce the risk of a damaging stroke. Research has shown that aspirin alone is
ineffective in treating moyamoya.
Surgical treatments: Surgery is generally recommended for moyamoya patients
with recurrent or progressive TIAs or strokes.
Cerebral bypass procedure is a direct method of revascularization. It involves
connecting a blood vessel from outside the brain to a vessel inside the brain to
reroute blood flow around an artery that is narrowed, blocked, or damaged. The
most common bypass procedure, the STA-MCA (superficial temporal artery to
middle cerebral artery), may achieve instant improvement in blood flow.
EDAS (encephalo-duro-arterio-synangiosis) procedure is an indirect method of
revascularization in which the superficial temporal artery is placed in contact with
the brain surface.
11. EMS (encephalo-myo-synangiosis) procedure is an indirect method of
revascularization in which the temporalis muscle on the side of the head, is
dissected and, through an opening in the skull, is placed onto the surface of the
brain.
EDAMS (encephalo-duro-arterio-myo-synangiosis) procedure is an indirect
method of revascularization. It combines the technique of EDAS and EMS.
Omental transposition procedure is an indirect method of revascularization in
which the omentum (the lining surrounding the abdominal organs), which is very
rich in blood supply, is placed on the surface of the brain, with the expectation that
vessels will eventually grow into the brain and improve blood supply.
Multiple burr holes procedure is an indirect method of revascularization in which
several small holes (burr holes) are placed in the skull to allow for growth of new
vessels into the brain from the scalp.
12. Recovery
The prognosis for patients with moyamoya is difficult to predict because the
disease’s natural history is not well known. Moyamoya can progress slowly with
occasional TIAs or strokes, or it can involve rapid decline.
Scientists have estimated that among untreated patients with moyamoya, 50 to 66
percent will experience progression of the disease and will suffer poor outcomes.
If a patient is surgically treated prior to a disabling stroke, even if the condition is
severe, the prognosis tends to be excellent.
For patients who have long-term damage from strokes, treatment will also focus on
physical therapy, speech therapy, and occupational therapy to help them regain
function and cope with any remaining disability.