Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient

Abstract

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.RESUMO CONTEXTO: Neurofibromatose tipo 1 (NF-1) é a doença genética autossômica dominante mais prevalente no ser humano. A doença de moyamoya é uma vasculopatia cerebral que raramente se encontra associada à NF-1, particularmente na faixa etária pediátrica. Este estudo descreve a ocorrência desta associação em um lactente.

Research Progress of Moyamoya Disease in Children

“…In a rare case of a mutation of CBL associated with MMD, Hyakuna et al showed that both NF1 and CBL participate in the RAS/MAPK pathway, indicating a common underlying pathogenesis of MMD 25 . Darrigo Júnior LG et al examined a pediatric patient with multiple neurofibromatosis and discovered that a mutation of the NF-1 gene could stimulate the abnormal protein function of neurofibromatosis, causing vascular smooth muscle cell proliferation and resulting in MMS 26 . It is worth noting that due to differences in clinical symptoms observed between children and adults with MMD, the genotypes of the two populations might also be different 27 .…”