Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient

Authors

  • Luiz Guilherme Darrigo Júnior Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo
  • Elvis Terci Valera Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo
  • André de Aboim Machado Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo
  • Antonio Carlos dos Santos Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo
  • Carlos Alberto Scrideli Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo
  • Luiz Gonzaga Tone Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo

Keywords:

Stroke, Magnetic resonance imaging, Moyamoya disease, Neurofibromatosis 1, Pediatrics

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.

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Author Biographies

Luiz Guilherme Darrigo Júnior, Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo

MD. Pediatric Oncologist, Division of Pediatric Oncology, Department of Pediatrics, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

Elvis Terci Valera, Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo

MD, PhD. Attending Physician, Division of Pediatric Oncology, Department of Pediatrics, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

André de Aboim Machado, Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo

MD. Radiologist, Division of Diagnostic Imaging, Department of Internal Medicine, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

Antonio Carlos dos Santos, Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo

MD, PhD. Full Professor, Division of Diagnostic Imaging, Department of Internal Medicine, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

Carlos Alberto Scrideli, Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo

MD. Pediatric Oncologist, Division of Pediatric Oncology, Department of Pediatrics, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

Luiz Gonzaga Tone, Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo

MD, PhD. Titular Professor, Division of Pediatric Oncology, Department of Pediatrics, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

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Published

2011-03-03

How to Cite

1.
Darrigo Júnior LG, Valera ET, Machado A de A, Santos AC dos, Scrideli CA, Tone LG. Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient. Sao Paulo Med J [Internet]. 2011 Mar. 3 [cited 2025 Mar. 12];129(2):110-2. Available from: https://periodicosapm.emnuvens.com.br/spmj/article/view/1565

Issue

Vol. 129 No. 2 (2011)

Section

Case Report

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