Clinical Presentation and Stroke Incidence Differ by Moyamoya Etiology

Area of Science:

• Neurology
• Pediatric Neurology
• Cerebrovascular Disease

Background:

• Moyamoya arteriopathy is a progressive cerebral condition leading to significant stroke risk.
• Subgroups of moyamoya arteriopathy, including idiopathic, sickle cell disease, neurofibromatosis, Down syndrome, and cranial radiation therapy, are not well understood regarding their differences.
• Understanding these differences is crucial for predicting stroke risk and functional outcomes.

Purpose of the Study:

• To investigate and compare the clinical presentation, radiographic findings, stroke risk, and functional outcomes across different subgroups of pediatric moyamoya arteriopathy.
• To identify specific characteristics of each moyamoya arteriopathy subgroup.

Main Methods:

• A retrospective cohort study identified 69 children (28 days to 18 years) with moyamoya arteriopathy treated between 2003 and 2019.
• Data on demographics, clinical presentation, and radiographic findings were extracted from medical records.
• The Pediatric Stroke Recurrence and Recovery Questionnaire was used for functional outcome assessment in consenting participants.

Main Results:

• Stroke frequency at presentation varied significantly among subgroups (P < .001).
• Over 50% of patients experienced stroke during follow-up, with rates differing by subgroup (e.g., 72% in sickle cell disease, 100% in Down syndrome).
• Differences were observed in bilateral vs. unilateral disease (P = .001) and stroke-free survival (P = .01) across subgroups.

Conclusions:

• Pediatric moyamoya arteriopathy subgroups exhibit distinct clinical and radiographic characteristics.
• Neurofibromatosis-associated moyamoya syndrome presents with a milder phenotype.
• Down syndrome-associated moyamoya indicates a more aggressive disease course, warranting further multi-center validation.