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Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient

Authors :
Luiz Guilherme Darrigo Júnior
Elvis Terci Valera
André de Aboim Machado
Antonio Carlos dos Santos
Carlos Alberto Scrideli
Luiz Gonzaga Tone
Source :
São Paulo Medical Journal, Vol 129, Iss 2, Pp 110-112
Publisher :
Associação Paulista de Medicina.

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.

Details

Language :
English
ISSN :
18069460 and 15163180
Volume :
129
Issue :
2
Database :
Directory of Open Access Journals
Journal :
São Paulo Medical Journal
Publication Type :
Academic Journal
Accession number :
edsdoj.29731367ca05478cbce81f510fe657e4
Document Type :
article
Full Text :
https://doi.org/10.1590/S1516-31802011000200010