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Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?
Am J Med Genet A. 2021 01; 185(1):223-227.AJ

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.

Authors+Show Affiliations

Division of Neurology, Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio, US.Division of Genetic and Genomic Medicine, Department of Internal Medicine, Nationwide Children's Hospital and The Ohio State University, Columbus, Ohio, US.Division of Neurology, Depts. Of Pediatrics and Neurology, The Ohio State University and Nationwide Children's Hospital, Columbus, Ohio, US.Division of Genetic and Genomic Medicine, Department of Pediatrics, Nationwide Children's Hospital and The Ohio State University, Columbus, Ohio, US.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

33078527

Citation

Pabst, Lisa, et al. "Moyamoya Syndrome in a Child With Legius Syndrome: Introducing a Cerebral Vasculopathy to the SPRED1 Phenotype?" American Journal of Medical Genetics. Part A, vol. 185, no. 1, 2021, pp. 223-227.
Pabst L, Carroll J, Lo W, et al. Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype? Am J Med Genet A. 2021;185(1):223-227.
Pabst, L., Carroll, J., Lo, W., & Truxal, K. V. (2021). Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype? American Journal of Medical Genetics. Part A, 185(1), 223-227. https://doi.org/10.1002/ajmg.a.61921
Pabst L, et al. Moyamoya Syndrome in a Child With Legius Syndrome: Introducing a Cerebral Vasculopathy to the SPRED1 Phenotype. Am J Med Genet A. 2021;185(1):223-227. PubMed PMID: 33078527.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype? AU - Pabst,Lisa, AU - Carroll,Jennifer, AU - Lo,Warren, AU - Truxal,Kristen V, Y1 - 2020/10/20/ PY - 2020/05/18/received PY - 2020/09/22/revised PY - 2020/09/27/accepted PY - 2020/10/21/pubmed PY - 2021/6/30/medline PY - 2020/10/20/entrez SP - 223 EP - 227 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 185 IS - 1 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/33078527/Moyamoya_syndrome_in_a_child_with_Legius_syndrome:_Introducing_a_cerebral_vasculopathy_to_the_SPRED1_phenotype L2 - https://doi.org/10.1002/ajmg.a.61921 DB - PRIME DP - Unbound Medicine ER -