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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2017-09-01
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| Series: | Human Pathology: Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214330016300165 |
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doaj-0f10a1adf9a64291b0f2b63c89f87f752020-11-25T01:39:52ZengElsevierHuman Pathology: Case Reports2214-33002017-09-0195557Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndromeMoogeh Baharnoori0Daniel M. Mandell1Danielle M. Andrade2Eva W.C. Chow3Anne S. Bassett4Tim-Rasmus Kiehl5Division of Neurology, Department of Medicine, University of Toronto, Toronto, CanadaDivision of Neuroradiology, Toronto Western Hospital and the University of Toronto, Toronto, Ontario, CanadaDivision of Neurology, Department of Medicine, University of Toronto, Toronto, Canada; Division of Neurology, Toronto Western Hospital, Krembil Neurosciences Center, University of Toronto, Toronto, Ontario, CanadaClinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada; Department of Psychiatry, University of Toronto, Toronto, Ontario, CanadaClinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada; Dalglish Family 22q for Adults With 22q11.2 Deletion Syndrome and Toronto General Research Institute, University Health Network, Toronto, Ontario, CanadaDepartment of Pathology, University Health Network and University of Toronto, Toronto, Ontario, Canada; Corresponding author at: University Health Network, Department of Pathology, 200 Elizabeth St., 11 Eaton 444, Toronto, Ontario M5G2C4, Canada.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, xanthogranulomahttp://www.sciencedirect.com/science/article/pii/S2214330016300165 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Moogeh Baharnoori Daniel M. Mandell Danielle M. Andrade Eva W.C. Chow Anne S. Bassett Tim-Rasmus Kiehl |
| spellingShingle |
Moogeh Baharnoori Daniel M. Mandell Danielle M. Andrade Eva W.C. Chow Anne S. Bassett Tim-Rasmus Kiehl Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome Human Pathology: Case Reports |
| author_facet |
Moogeh Baharnoori Daniel M. Mandell Danielle M. Andrade Eva W.C. Chow Anne S. Bassett Tim-Rasmus Kiehl |
| author_sort |
Moogeh Baharnoori |
| title |
Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome |
| title_short |
Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome |
| title_full |
Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome |
| title_fullStr |
Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome |
| title_full_unstemmed |
Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome |
| title_sort |
periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome |
| publisher |
Elsevier |
| series |
Human Pathology: Case Reports |
| issn |
2214-3300 |
| publishDate |
2017-09-01 |
| description |
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 |
| url |
http://www.sciencedirect.com/science/article/pii/S2214330016300165 |
| work_keys_str_mv |
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