Case presentation
RLH 03/22
James Lane
Patient
- 38 Y/O
- Transferred 02/21 from HUH
- Presentation
- 17:00-03:00 at work
- Sudden onset expressive dysphasia
- Worsened over shift
- Mild RSW
- Went to bed, on waking in am symptoms persistent/worse
NIHSS
NIHSS
0
0
0
0
0
2
0
1
0
0
1 (RUL)
1 (RUL)
2
1
0
- Consciousness
- Questions
- Commands
- Occular movements
- Visual fields
- Facial palsy
- LUL
- RUL
- LLL
- RLL
- Ataxia
- Sensation
- Dysphasia
- Dysarthria
- Neglect
History
- PMHx
- Depression
- Biliary colic
- Miscarriage x2
- father (in 40s)
- brother (aged 50)
- mother
- mother had 10x
Ix
Management
- CTH: 2x subacute infarcts L MCA territory
- CTA: Severe L M1 stenosis
- Outside tPA window
- Aspirin 300mg
- Echo NAD
- For bubble echo
- Thrombophilia screen
?Inherited thrombophilia - miscarriage
?haemoglobinopathy
?moyamoya
- Discharged home
- Discussed at MDT - refer to Dr Haddadi
MRI
MRI
MRI - "confirms L MCA infarct involving L fronto-parietal regions and extending into deep border zone territory"
CTA - "severe stenosis L M1 cause unclear. Partially occlusive thrombus atherosclerotic stenosis, vasculitis or drug related vasospasm should all be considered
Patient
- 4 presentations in total
- 3 positive for acute stroke
- Young stroke screen negative
- ? what is causing repeated strokes in a young individual
Further events
Patient
1
- Re-transferred 06/21
- Presentation
- Woke with headache
- Dysarthria
- Worsening RSW - face, arm, leg
- NIHSS 4 (face, RUL/RLL drift, dysarthria)
- CTH/CTA Nil acute, ongoing L M1 stenosis
- MRI Nil acute
- Discharged as decompensation of previous stroke
Patient
2
- Further admission 11/21
- Presentation
- RSW
- facial droop
- dysarthria
- NIHSS 4 (face, RUL/RLL drift, dysarthria)
- Family Hx - brother now moyamoya
- MRI - new infarcts L precentral gyrus infarct and R deep white matter
- Management:
- DAPT 3/52
- Clopidogrel monotherapy
- Avoid aggressive reduction in BP
Patient
- Further admission 01/22
- Presentation
- RSW
- Facial droop
- MRI - "Acute L anterior borderzone and R ACA infarcts in the context of new/worsening L ICA, R ICA stenosis"
3
Moyamoya
- Rare condition affecting cerebrovascular blood vessels
- Stenosis
- Progressive
- "puff of smoke"
- Multiple strokes/TIA - often haemorrhagic
Epidemiology
Who?
- East Asia > Europe/North America (0.35-0.94 per 100000)
- Incidence
- Children & adults
- 2 peaks
- Female > male (1.9)
Aetiology
Why
- Cause unknown
- ?Genetic component (?brother)
- High incidence in Japanese population
- Familial occurrence 10%-15%
- R179 in ACTA2, RNF213
- Secondary
- Associated with many other conditions
Diagnosis
How?
(proposed criteria)
- Stenosis/occlusion terminal ICA
- Stenosis/occlusion proximal ACA & MCA
- Abnormal vascular networks
- Angiographic findings bilaterally
Treatment
- Symptomatic
- Reducing ICP
- Improving cerebral blood flow
- Managing seizres
- Neurosurgery for ICH
- Avoid
- Hypotension
- Hyperthermia
- Hypocarbia
- Hypovolaemia
- Treat underlying cause (secondary)
- Without treatment - multiple strokes
- Secondary prevention
- Medical
Antiplatelet
AED if seizures
Anticoagulants if unstable symptoms (rarely long term due to bleeding risk) but avoid
Ca blocker for headache - consider risk of BP reduction
Revascularisation - stenting/bypass (children>adults)
Pial synangiosis, encephalomyosynangiosis (EMS), encephaloduroarteriosynangiosis (EDAS)
dural inversion.
Summary & Discussion
- Case to demonstrate Moyamoya and its presentation
- Considered demographics
- Considered management
Questions?
References:
1. UpToDate (https://www.uptodate.com/contents/moyamoya-disease-etiology-clinical-features-and-diagnosis?search=moyamoya&source=search_result&selectedTitle=1~46&usage_type=default&display_rank=1)
2. NINDS (https://www.ninds.nih.gov/Disorders/All-Disorders/Moyamoya-Disease-Information-Page#:~:text=Moyamoya%20disease%20is%20a%20rare,to%20compensate%20for%20the%20blockage.
3. Rarediseases.org (https://rarediseases.org/rare-diseases/moyamoya-disease/)