Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient

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.

Detalhes bibliográficos

Principais autores:	Darrigo Júnior,Luiz Guilherme, Valera,Elvis Terci, Machado,André de Aboim, Santos,Antonio Carlos dos, Scrideli,Carlos Alberto, Tone,Luiz Gonzaga
Formato:	Digital revista
Idioma:	English
Publicado em:	Associação Paulista de Medicina - APM 2011
Acesso em linha:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802011000200010
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