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

Moogeh Baharnoori; Daniel M. Mandell; Danielle M. Andrade; Eva W.C. Chow; Anne S. Bassett; Tim-Rasmus Kiehl

Human Pathology: Case Reports (Sep 2017)

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

Moogeh Baharnoori,
Daniel M. Mandell,
Danielle M. Andrade,
Eva W.C. Chow,
Anne S. Bassett,
Tim-Rasmus Kiehl

Affiliations

Moogeh Baharnoori: Division of Neurology, Department of Medicine, University of Toronto, Toronto, Canada
Daniel M. Mandell: Division of Neuroradiology, Toronto Western Hospital and the University of Toronto, Toronto, Ontario, Canada
Danielle M. Andrade: Division of Neurology, Department of Medicine, University of Toronto, Toronto, Canada; Division of Neurology, Toronto Western Hospital, Krembil Neurosciences Center, University of Toronto, Toronto, Ontario, Canada
Eva W.C. Chow: Clinical 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
Anne S. Bassett: Clinical 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, Canada
Tim-Rasmus Kiehl: Department 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.

Journal volume & issue: Vol. 9
pp. 55 – 57

Abstract

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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

Published in Human Pathology: Case Reports

ISSN: 2214-3300 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Pathology
Website: http://www.journals.elsevier.com/human-pathology-case-reports/

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