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Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the <scp> SPRED1 </scp> phenotype?
- Source :
- American Journal of Medical Genetics Part A. 185:223-227
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
-
Abstract
- Legius syndrome is a disorder of the RAS and mitogen-activated protein kinase (MAPK) pathway first described in 2007 by Eric Legius, et al., that has been considered a milder phenotype than reported in the RASopathy neurofibromatosis type 1 (NF1). However, with approximately 200 cases reported in the literature, the Legius syndrome phenotype remains to be fully characterized. We report a child who presented with moyamoya syndrome and who has Legius syndrome due to a pathogenic variant in SPRED1. Vascular complications such as moyamoya syndrome have been reported in NF1. However, this association has not been reported in Legius syndrome. This child's case may represent an expansion of the clinical phenotype of Legius syndrome, and further study is needed. We emphasize the importance of obtaining neuroimaging studies in patients with Legius syndrome who present with new neurologic deficits.
- Subjects :
- 0301 basic medicine
Legius syndrome
medicine.medical_specialty
business.industry
030105 genetics & heredity
RASopathy
medicine.disease
Phenotype
Dermatology
03 medical and health sciences
030104 developmental biology
Genetics
medicine
In patient
Neurofibromatosis
Clinical phenotype
business
Vasculitis
Genetics (clinical)
Subjects
Details
- ISSN :
- 15524833 and 15524825
- Volume :
- 185
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi...........ecd33f54e78674dde13c3edb676bf830