Publication Date
12-1-2019
Journal
Neurology Genetics
DOI
10.1212/NXG.0000000000000366
PMID
31872050
PMCID
PMC6878837
PubMedCentral® Posted Date
10-30-2019
PubMedCentral® Full Text Version
Post-print
Published Open-Access
yes
Abstract
OBJECTIVE: To describe the findings of histopathology and genotyping studies in affected brain tissue from an individual with phacomatosis pigmentovascularis (PPV).
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.
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
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.
