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.
CITATION STYLE
Júnior, L. G. D., Valera, E. T., de Aboim Machado, A., dos Santos, A. C., Scrideli, C. A., & Tone, L. G. (2011). Síndrome de moyamoya associada a neurofibromatose tipo I em paciente pediátrico. Sao Paulo Medical Journal, 129(2), 110–112. https://doi.org/10.1590/S1516-31802011000200010
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