Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient

• Autor(a) principal: Darrigo Júnior,Luiz Guilherme
• Data de Publicação: 2011
• Outros Autores: Valera,Elvis Terci, Machado,André de Aboim, Santos,Antonio Carlos dos, Scrideli,Carlos Alberto, Tone,Luiz Gonzaga
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: São Paulo medical journal (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802011000200010
• topic: Stroke; Magnetic resonance imaging; Moyamoya disease; Neurofibromatosis 1; Pediatrics

CONTEXT: Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range. The present study reports an occurrence of this association in an infant. CASE REPORT: An eight-month-old female presented convulsive seizures with clonic movements. The patient suffered an ischemic stroke with hemiparesis. Magnetic resonance imaging revealed radiological findings compatible with moyamoya disease. The diagnosis of NF-1 was made at the age of 20 months. CONCLUSION: Despite the rarity of this association in childhood, children with focal neurological symptoms and a diagnosis of NF-1 deserve to be investigated for moyamoya syndrome.