Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome
2017
Abstract 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
neuroimagingand
neuropathologicfeatures of a 22q11DS patient with bilateral
periventricular nodular heterotopias(PNH) and intraventricular xanthogranulomas that were identified by post-mortem examination.
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