Dados do Trabalho

Título

AN EIGHT-YEAR PROFILE OF MOYAMOYA PATIENTS FROM A QUATERNARY CENTER IN BRAZIL

Introdução

Moyamoya (MM) refers to the "smoke" angiographic pattern seen in patients with occlusion of large cerebral vessels. First described in Japan in 1957, this pattern is characterized by collateral vasculature resulting from stenosis of the internal carotid arteries. When it occurs in isolation, it is termed Moyamoya Disease (MMD), which is primarily genetic and often linked to mutations in the RNF213 gene. When associated with other conditions, it is called Moyamoya Syndrome (MMS). Common associations include Neurofibromatosis type 1 (NF1) and sickle cell disease (SCD). Treatment strategies depend on the etiology, with acetylsalicylic acid (ASA) commonly used after ischemic events and surgical interventions showing good outcomes in selected cases.

Objetivo

This study aims to describe patients diagnosed with MM at a quaternary center in Brazil, focusing on clinical presentation, diagnostic features, and treatment.

Método

We conducted a retrospective descriptive study through chart review, analyzing data from pediatric patients diagnosed with MM between 2016 and 2024.

Resultados

We identified 15 patients with MM, including 7 females and 8 males. Of these, 7 had MMS, with 4 having SCD, 1 with Down Syndrome, and 2 with NF1. MMD was diagnosed in 8 patients, with only 1 having a confirmed RNF213 gene mutation. Common comorbidities included epilepsy (46%) and Attention Deficit Hyperactivity Disorder (ADHD) in 2 children. All patients initially presented with ischemic stroke. During follow-up, 3 patients had more than one ischemic event, and 1 experienced a hemorrhagic stroke. The average age at the first event was 70.4 months. Imaging was performed using arteriography in 2 patients and magnetic resonance arteriography (MRA) in the others. The mean age at which vascular imaging first showed a suggestive MM pattern was 91.6 months. Treatment included ASA for 80% of the patients, with only 1 experiencing a recurrence after starting the medication. Additionally, 4 children (26%) underwent surgical intervention.

Conclusão

SCD, Down Syndrome, and NF1 are significant comorbidities associated with MMS. In our cohort, 53.3% were diagnosed with MMD, with only 1 having a genetic mutation. MM, though often associated with East Asian ethnicities, can occur in individuals of various backgrounds and is a significant cause of ischemic strokes in children. Early diagnosis through imaging and appropriate treatment can help prevent further strokes and improve neurological outcomes.

Referências

- ZHANG, W. et al. Illness uncertainty, resilience, and perceived social support among patients with moyamoya disease: a cross-sectional study. Frontiers in Psychiatry, v. 15, 23 jul. 2024.
- ‌STRUNK, D. et al. Moyamoya disease in Southeast Asians: genetic and autopsy data, new cases, systematic review, and meta-analysis of all patients from the literature. Journal of neurology, 13 mar. 2024.
- ‌BROSIUS, S. N. et al. Characteristics of Moyamoya Syndrome in Pediatric Patients With Neurofibromatosis Type 1. Pediatric Neurology, v. 134, p. 85–92, 1 set. 2022.
- ‌MITCHELL, D. S. et al. Post-Surgical Cognitive Outcomes of Moyamoya Disease: A Systematic Review. World Neurosurgery, v. 178, p. 181-190.e1, 1 out. 2023.
- ‌ZHANG, X.-H. et al. Comparison of revascularization and conservative treatment for hemorrhagic moyamoya disease in East Asian Countries: a single-center case series and a systematic review with meta-analysis. Frontiers in Neurology, v. 14, 2 jun. 2023.
- ‌JIANG, X. et al. Meta-analysis of the association between RNF213 polymorphisms and clinical features of moyamoya disease in Asian population. Clinical Neurology and Neurosurgery, v. 231, p. 107801–107801, 1 ago. 2023.
- ‌CAO, J. et al. Potential predictors for progression of moyamoya disease: A systematic review and meta-analysis. Frontiers in Neurology, v. 14, 2 mar. 2023.
- ‌TOMOYOSHI KURIBARA et al. Macrohistory of Moyamoya Disease Analyzed Using Artificial Intelligence. Cerebrovascular Diseases, v. 51, n. 4, p. 413–426, 1 jan. 2022.
- BARRETO-DUARTE, B. et al. Association between neurofibromatosis type 1 and cerebrovascular diseases in children: A systematic review. PLoS ONE, v. 16, n. 1, p. e0241096–e0241096, 4 jan. 2021.

Palavras Chave

Moyamoya disease; moyamoya syndrome; pediatric stroke