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GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis.
- Source :
-
Neurology. Genetics [Neurol Genet] 2019 Oct 30; Vol. 5 (6), pp. e366. Date of Electronic Publication: 2019 Oct 30 (Print Publication: 2019). - Publication Year :
- 2019
-
Abstract
- Objective: To describe the findings of histopathology and genotyping studies in affected brain tissue from an individual with phacomatosis pigmentovascularis (PPV).<br />Methods: A retrospective chart review of a 2-year 10-month-old male with a clinical diagnosis of PPV cesiomarmorata (or type V) was performed. Clinical features, brain imaging and histopathology findings, and genotyping studies in his affected brain tissue are summarized.<br />Results: The proband had a clinically severe neurologic phenotype characterized by global developmental delay, generalized hypotonia, and recurrent episodes of cardiac asystole in the setting of status epilepticus. A somatic pathogenic variant in GNA11 (c.547C>T, p.Arg183Cys) was detected in his skin tissue but not in blood (previously published). He underwent an urgent left posterior quadrantectomy for his life-threatening seizures. Histopathology of resected brain tissue showed an increase in leptomeningeal melanocytes and abnormal vasculature, and the exact pathogenic variant in GNA11 (c.547C>T, p.Arg183Cys), previously isolated from his skin tissue but not blood, was detected in his resected brain tissue.<br />Conclusions: The finding of this variant in affected skin and brain tissue of our patient with PPV supports a unifying genetic diagnosis of his neurocutaneous features.<br /> (Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)
Details
- Language :
- English
- ISSN :
- 2376-7839
- Volume :
- 5
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Neurology. Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 31872050
- Full Text :
- https://doi.org/10.1212/NXG.0000000000000366