1 - Serviço de Pediatria, Hospital do Divino Espírito Santo, Ponta Delgada;
2 - Serviço de Neurorradiologia, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa;
3 - Serviço de Neurocirurgia, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa;
4 - Unidade de Neuropediatria, Área de Pediatria, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa.
- Poster com discussão no 23º Congresso Nacional de Pediatria, Estoril, 25-27 outubro 2023
- Poster no 9th Congress of the European Academy of Neurology, Budapest, 1-4 julho 2023
Introdução: Moyamoya is an uncommon cerebrovascular condition characterized by progressive stenosis and occlusion of large intracranial arteries. Although mostly idiopathic, it can be divided into primary, RNF213 gene mutation, and secondary, when comorbidities and environmental factors are present. The peak incidence is at 10 and 40 years old and it causes mainly strokes and seizures.
Relato de Caso: A 6-month-old infant was admitted to the Emergency Department due to prostration and focal seizures for the last 3 days. He was hypotonic, had right side eye deviation and later a left hemiparesis was installed. Cranial CT showed an extensive heterogeneously hypodense lesional area involving the entire right cerebral hemisphere. The electroencephalogram showed right temporal epileptic activity suggesting focal status epilepticus. Brain MRI revealed an extensive ischemic stroke in the right hemisphere involving the internal carotid artery (ICA) and posterior cerebral artery territories, as well as a small contralateral infarction in the middle cerebral artery/barrier territory. MR angiography showed a bilateral pre-obliterative stenosis of the distal ICA and proximal segments of the anterior and middle cerebral arteries with lenticulostriate branches hypertrophy. This vascular pattern was compatible with Moyamoya disease. The genetic study revealed a heterozygous variant in the RNF213 gene. After revascularization surgery a partial focal deficit recovery was observed, remaining moderate psychomotor development delay.
Conclusões: Moyamoya disease and syndrome are associated with high morbidity. Early diagnosis and proper treatment are crucial to minimize neurological sequelae.
Palavras Chave: acidente vascular cerebral, cirurgia de revascularização, doença de Moyamoya.