Rare disease

Spontaneous occlusion of the circle of Willis in a young
woman with epilepsy: epileptic-type moyamoya disease
Makardhwaj Sarvadaman Shrivastava,1 Vikas Khullar,1,2 Mini Singh,1 Mohammed Haneef,1 Nalin Nag1
1Department of Internal Medicine, Indraprastha Apollo Hospitals, New Delhi, India;
2St George’s University, Grenada, Brooklyn, New York, USA

Correspondence to Dr Makardhwaj Sarvadaman Shrivastava, makar_in@rediffmail.com

Summary
The authors report a case of a 31-year-old woman from India with history of seizure disorder who presented with sudden onset right
hemiparesis and right-sided upper motor neuron type facial palsy. No identifiable risk factors were noted on admission and all laboratory
investigations were negative. MR angiography helped in arriving at the diagnosis of moyamoya disease as the aetiology of her symptoms.

BACKGROUND
Moyamoya disease is a rare cause of ischemic strokes in
adults. Seizures in patients with moyamoya disease are
mainly described in the paediatric population. The incidence of this disease remains unknown in India. The use
of non-invasive imaging modalities should be considered
in younger patients presenting with ischaemic symptoms
and no identifiable risk factors. This can aid in the diagnosis and early detection of moyamoya disease with possible
early intervention.

CASE PRESENTATION
A 31-year-old married woman from New Delhi, India
presented with sudden onset right hemiparesis and rightsided upper motor neuron type facial palsy with slurred
speech of 6 h duration. She denied having had seizures,
headache, trauma, altered sensorium or loss of consciousness prior to the onset of the symptoms. She had no history of cardiac abnormalities, connective tissue disorders,
bleeding tendencies, recent infections, cranial irradiation
or any risk factors for stroke including hypertension, diabetes mellitus, dyslipidemia, smoking, alcohol or drug
use. She denied present or past use of contraceptive pills.

She had a history of seizure disorder for which she had
not undergone detailed evaluation and was taking carbamazepine. She had been seizure-free for the past 10
years. She also had a history of hypothyroidism treated
with levothyroxine for the past 5 years. Family history
was non-contributory.
On examination, she had a pulse rate of 78/min, regular
and a blood pressure of 160/90 mm Hg in left arm in supine
position. Her body mass index was 22 kg/m2. Neurological
examination revealed motor aphasia, upper motor neuron
type facial palsy on right side and hemiparesis on the right
half of the body with the power of 3/5 in upper and lower
limbs. Reflexes were brisk on the right side and plantar
was extensor. No involvement of other cranial nerves or
sensory system was noted. Left side of the body and face
were normal. General and other system examinations
were within normal limits.

INVESTIGATIONS
Investigations revealed a haemoglobin of 13.3 g/dl,
total leucocyte count of 10 900/mm3, platelet count of
394 000/mm3. Liver and renal function tests were normal. Prothrombin time was 10.8 with a control of 10.8

Figure 1 (A, B) MR angiography images of the circle of Willis showing stenosis of right middle cerebral artery (MCA) with multiple
collateral formation (see pointer tip). Note the attenuated signal in M1 segment of left MCA and supraclinoid part of left internal carotid
artery and the irregularity in A1 segment of left anterior cerebral artery.
BMJ Case Reports 2012; doi:10.1136/bcr.10.2011.5045

1 of 3

(international normalised ratio=1) and activated prothrombin time was 29.2 with a control of 31. Noncontrast CT of the head performed in the emergency
department revealed hypodense areas in left periventricular white matter in the temporal and occipital regions with
effacement of sulcal spaces consistent with infarction.
Electrocardiogram, chest radiograph and 2-dimensional
echocardiography did not reveal any abnormality. Carotid
Doppler study was unremarkable. She had a triglyceride
level of 226 mg/dl and the rest of the lipid profile was
within normal limits. Protein C, protein S and factor V
Leiden mutation assays were normal. Antinuclear antibody, lupus anticoagulant and anticardiolipin antibody
tests were negative. Serum homocysteine level was 6.2
μmol/l (NR 3.3–7.2 μmol/l). A MRI of the brain revealed
multiple acute infarcts in fronto-parietal region conforming to left middle cerebral artery territory. Subsequent,
MR angiography (MRA) (figure 1A,B) showed stenosis
of right middle cerebral artery with multiple collateral
formations, attenuated signal in M1 segment of left middle cerebral artery and supraclinoid part of left internal
carotid artery (ICA) and irregularity in A1 segment of left
anterior cerebral artery. MR venogram was normal. This
pattern was suggestive of adult-onset moyamoya disease
with evidence of bilateral chronic stenosis and formation
of collateral vessels on the right side where stenosis was
severe. Electroencephalogram done at a later date revealed
no abnormality.

DIFFERENTIAL DIAGNOSIS
1) Embolic stroke – cardiac versus large vessel related
2) Space occupying lesion – tuberculoma, neurocysticercosis, toxoplasma etc
3) Vasculitis
4) Intracranial haemorrhage – Intraparenchymal, subarachnoid or arterio-venous malformation
5) Hypercoagulable states
6) Haematological disorders – Sickle cell anaemia, leukaemia’s, disseminated intravascular coagulation, polycythemia vera
7) Inherited metabolic disorders – Homocystenuria,
Fabry’s disease.

TREATMENT
She received intravenous hydration and supplemental oxygen. Aspirin (325 mg) was started. Limb physiotherapy and
speech therapy were instituted by the third day of admission. Her blood pressure normalised next day without the
need for antihypertensive medications.

OUTCOME AND FOLLOW-UP
The patient showed significant improvement in motor
power and began to walk with support by the end of first
week. She also started to articulate in simple sentences. By
the time of discharge from the hospital her power on the
affected side was 4/5 in lower limb and 4+/5 in upper limb
muscles. The nature and prognosis of the disease were
discussed in detail with the patient. She was informed
about the medical and surgical interventions available. The

2 of 3

patient declined any surgical intervention at this time and
opted for medical management.

DISCUSSION
Moyamoya disease is rare disorder of unknown aetiology
characterised by spontaneous progressive stenosis/occlusion of arteries of circle of Willis primarily affecting terminal portion of ICA and their proximal branches namely the
anterior cerebral (ACA) and middle cerebral (MCA) arteries. This disease is associated with formation of collaterals
near the stenosis appearing as ‘puff of smoke’ (Moyamoya
in Japanese) on angiography.1
Though more common in Asians, cases have been
reported sporadically throughout the world including
India.2 3 The disease peaks in two age groups: children less
than 5 years-of-age presenting with ischaemic strokes and
adults in their mid-40s, in whom haemorrhage is often the
initial presentation.3 4
Affected patients have symptoms that can be categorised in two main aetiologic groups: 1) brain ischaemia
(stroke, seizures and transient ischaemic attacks) and 2)
consequences secondary to the compensatory mechanisms responding to ischemia (haemorrhage from fragile collaterals, headache from dilated dural collaterals).1
Seizures although more common in children have also
been described in adults in anecdotal reports.5
The diagnostic criteria by the research committee on
moyamoya disease Japan considers bilateral lesions as definite moyamoya disease.6 However, the pathognomonic
arteriographic findings in moyamoya disease can vary in
severity between the two sides.7 These findings may be
unilateral initially, however, contralateral disease eventually develops in up to 40% of these patients.8 9 Many
patients, particularly with ischaemic presentation, are generally not evaluated by angiography and are often missed
during initial presentation. Hence, the clinician needs to
have a very high index of suspicion to detect this subset
of patients.3
There is no treatment available which can reverse the
primary disease process. Medical and surgical modalities
available aims at improving cerebral blood flow thus protecting against future stroke, reducing collateral formation
and reducing the frequency of symptoms. Antiplatelet
agents have been used to prevent emboli. Direct revascularisation with anastomosis between branches of internal
and external carotid arteries or indirect techniques such
as placement of vascularised tissue in direct contact with
brain, are the two surgical methods available for these
patients.1
The diagnosis in our patient was made by detection of
the lesion by MRA. Formation of collaterals requires a long
standing progressive stenosis of the vessels. Our patient’s
seizure disorder diagnosed 10 years prior could have been
an early manifestation of moyamoya disease caused by
cerebral ischaemia and perhaps remained undetected
as MRA/angiography was not performed at the time of
diagnosis. The formation of collaterals as detected on the
most recent MRA may have improved the perfusion of the
ischemic brain areas and hence explain her symptom-free
interval.

BMJ Case Reports 2012; doi:10.1136/bcr.10.2011.5045

Learning points

Acknowledgements Dr Charu Gauba and Dr Mukul Varma (Department of
Neurology) for their guidance.
Competing interests None.

Spontaneous occlusion of the circle of Willis
(moyamoya disease) is a rare cause of ischaemic
stroke; its incidence is unknown in Indian adults.
▶ MRA is an indispensable investigation modality in the
evaluation of young patients presenting with ischemic
stroke with no identifiable risk factors.
▶ Moyamoya disease should be considered as a possible
aetiology in the investigation of young patients
presenting with neurological symptoms with normal
laboratory and routine imaging investigations.
▶ Although haemorrhage is the most common initial
presentation in adults with moyamoya disease,
ischaemic strokes can also be seen.
▶ Although bilateral involvement is needed for definite
diagnosis, extent of involvement between the sides
may vary.
▶ Patients presenting with unilateral presentation are
likely to eventually develop bilateral disease. Early
intervention and treatment might prevent further
episodes of neurological complications and should be
offered to such patients.
▶

Patient consent Obtained.

REFERENCES
1. Scott RM, Smith ER. Moyamoya disease and moyamoya syndrome. N Engl
J Med 2009;360:1226–37.
2. Suzuki J, Kodama N. Moyamoya disease–a review. Stroke 1983;14:104–9.
3. Garg AK, Suri A, Sharma BS. Ten-year experience of 44 patients with
moyamoya disease from a single institution. J Clin Neurosci 2010;17:460–3.
4. Fukui M. Current state of study on moyamoya disease in Japan. Surg Neurol
1997;47:138–43.
5. Molina C, Alvarez Sabín J, Bosch J, et al. [Somatosensory focal seizures as
an onset form in adult Moyamoya syndrome]. Rev Neurol 1995;23:1242–5.
6. Fukui M. Guidelines for the diagnosis and treatment of spontaneous
occlusion of the circle of Willis (‘moyamoya’ disease). Research Committee
on Spontaneous Occlusion of the Circle of Willis (Moyamoya Disease) of
the Ministry of Health and Welfare, Japan. Clin Neurol Neurosurg 1997;99
Suppl 2:S238–40.
7. Kuroda S, Ishikawa T, Houkin K, et al. Incidence and clinical features of
disease progression in adult moyamoya disease. Stroke 2005;36:2148–53.
8. Kelly ME, Bell-Stephens TE, Marks MP, et al. Progression of unilateral
moyamoya disease: A clinical series. Cerebrovasc Dis 2006;22:109–15.
9. Smith ER, Scott RM. Progression of disease in unilateral moyamoya
syndrome. Neurosurg Focus 2008;24:E17.

This pdf has been created automatically from the final edited text and images.
Copyright 2012 BMJ Publishing Group. All rights reserved. For permission to reuse any of this content visit
http://group.bmj.com/group/rights-licensing/permissions.
BMJ Case Report Fellows may re-use this article for personal use and teaching without any further permission.
Please cite this article as follows (you will need to access the article online to obtain the date of publication).
Shrivastava MS, Khullar V, Singh M, Haneef M, Nag N. Spontaneous occlusion of the circle of Willis in a young woman with epilepsy: epileptic-type moyamoya
disease. BMJ Case Reports 2012;10.1136/bcr.10.2011.5045, Published XXX
Become a Fellow of BMJ Case Reports today and you can:
▶ Submit as many cases as you like
▶ Enjoy fast sympathetic peer review and rapid publication of accepted articles
▶ Access all the published articles
▶ Re-use any of the published material for personal use and teaching without further permission
For information on Institutional Fellowships contact consortiasales@bmjgroup.com
Visit casereports.bmj.com for more articles like this and to become a Fellow
Keep up to date with all published cases by signing up for an alert (all we need is your email address) http://casereports.bmj.com/cgi/alerts/etoc

BMJ Case Reports 2012; doi:10.1136/bcr.10.2011.5045

3 of 3