• Sao Paulo Med J · Mar 2011

    Case Reports

    Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient.

    • Luiz Guilherme Darrigo Júnior, Elvis Terci Valera, André de Aboim Machado, SantosAntonio Carlos DosAC, Carlos Alberto Scrideli, and Luiz Gonzaga Tone.
    • Division of Pediatric Oncology, Department of Pediatrics, Ribeirão Preto School of Medicine, University of São Paulo, Brazil. guimedicina@gmail.com
    • Sao Paulo Med J. 2011 Mar 1; 129 (2): 110112110-2.

    ContextNeurofibromatosis 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 ReportAn 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.ConclusionDespite 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.

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