Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort
Chiara Po'1,2,3, Margherita Nosadini1,4, Marialuisa Zedde5
1Paediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy.
Background:
Moyamoya is a rare progressive cerebral arteriopathy, occurring as an isolated phenomenon (moyamoya disease, MMD) or associated with other conditions (moyamoya syndrome, MMS), responsible for 6-10% of all childhood strokes and transient ischemic attacks (TIAs).
Methods:
We conducted a retrospective multicenter study on pediatric-onset MMD/MMS in Italy in order to characterize disease presentation, course, management, neuroradiology, and outcome in a European country.
Results:
A total of 65 patients (34/65 women) with MMD (27/65) or MMS (38/65) were included. About 18% (12/65) of patients were asymptomatic and diagnosed incidentally during investigations performed for an underlying condition (incMMS), whereas 82% (53/65) of patients with MMD or MMS were diagnosed due to the presence of neurological symptoms (symptMMD/MMS). Of these latter, before diagnosis, 66% (43/65) of patients suffered from cerebrovascular events with or without other manifestations (ischemic stroke 42%, 27/65; TIA 32%, 21/65; and no hemorrhagic strokes), 18% (12/65) of them reported headache (in 4/12 headache was not associated with any other manifestation), and 26% (17/65) of them experienced multiple phenotypes (≥2 among: stroke/TIA/seizures/headache/others). Neuroradiology disclosed ≥1 ischemic lesion in 67% (39/58) of patients and posterior circulation involvement in 51% (30/58) of them. About 73% (47/64) of patients underwent surgery, and 69% (45/65) of them received aspirin, but after diagnosis, further stroke events occurred in 20% (12/61) of them, including operated patients (11%, 5/47). Between symptom onset and last follow-up, the overall patient/year incidence of stroke was 10.26% (IC 95% 7.58-13.88%). At last follow-up (median 4 years after diagnosis, range 0.5-15), 43% (26/61) of patients had motor deficits, 31% (19/61) of them had intellectual disability, 13% (8/61) of them had epilepsy, 11% (7/61) of them had behavioral problems, and 25% (13/52) of them had mRS > 2. The proportion of final mRS > 2 was significantly higher in patients with symptMMD/MMS than in patients with incMMS (p = 0.021). Onset age <4 years and stroke before diagnosis were significantly associated with increased risk of intellectual disability (p = 0.0010 and p = 0.0071, respectively) and mRS > 2 at follow-up (p = 0.0106 and p = 0.0009, respectively).
Conclusions:
Moyamoya is a severe condition that may affect young children and frequently cause cerebrovascular events throughout the disease course, but may also manifest with multiple and non-cerebrovascular clinical phenotypes including headache (isolated or associated with other manifestations), seizures, and movement disorder. Younger onset age and stroke before diagnosis may associate with increased risk of worse outcome (final mRS > 2).
Insights
Moyamoya disease (MMD) and syndrome (MMS) are rare progressive cerebral arteriopathies causing strokes in children. Younger onset and pre-diagnosis stroke increase risks for intellectual disability and poor outcomes.
Area of Science:
- Neurology
- Pediatric Neurology
- Cerebrovascular Diseases
Background:
- Moyamoya is a rare, progressive cerebral arteriopathy affecting children, causing 6-10% of childhood strokes and TIAs.
- It occurs as isolated moyamoya disease (MMD) or associated moyamoya syndrome (MMS).
Purpose of the Study:
- To characterize the presentation, course, management, neuroradiology, and outcomes of pediatric-onset MMD/MMS in Italy.
- To identify risk factors for adverse outcomes in affected children.
Main Methods:
- Retrospective multicenter study of 65 pediatric patients with MMD or MMS in Italy.
- Data collected on disease presentation, symptoms, neuroradiology, treatments, and long-term outcomes (median follow-up 4 years).
Main Results:
- 82% of patients were symptomatic; 66% experienced cerebrovascular events before diagnosis. Ischemic lesions and posterior circulation involvement were common.
- Surgery and aspirin were administered to 73% and 69% of patients, respectively. 20% experienced further strokes post-diagnosis.
- At follow-up, 43% had motor deficits, 31% intellectual disability, and 25% mRS > 2. Younger onset and pre-diagnosis stroke were linked to worse outcomes.
Conclusions:
- Moyamoya significantly impacts young children, causing cerebrovascular events and diverse non-cerebrovascular symptoms like headache and seizures.
- Early onset and pre-diagnosis stroke are critical indicators for increased risk of long-term disability and poor functional outcomes.
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