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