Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome

Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome

22q11.2 deletion syndrome (22q11DS) is the most common pathogenic copy number variant in humans. Neuropsychiatric phenotypes, including schizophrenia, are prominent. Imaging studies of individuals with this syndrome show a variety of abnormalities that may indicate abnormal neuronal migration. Here...

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Bibliographic Details
Main Authors: Moogeh Baharnoori, Daniel M. Mandell, Danielle M. Andrade, Eva W.C. Chow, Anne S. Bassett, Tim-Rasmus Kiehl
Format: Article
Language:English
Published: Elsevier 2017-09-01
Series:Human Pathology: Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214330016300165
Description
Summary:22q11.2 deletion syndrome (22q11DS) is the most common pathogenic copy number variant in humans. Neuropsychiatric phenotypes, including schizophrenia, are prominent. Imaging studies of individuals with this syndrome show a variety of abnormalities that may indicate abnormal neuronal migration. Here we present the neuroimaging and neuropathologic features of a 22q11DS patient with bilateral periventricular nodular heterotopias (PNH) and intraventricular xanthogranulomas that were identified by post-mortem examination. Keywords: 22q11.2 Deletion Syndrome, periventricular nodular heterotopia, neuronal migration, xanthogranuloma
ISSN:2214-3300

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