The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series

Kyle S Conway; Fozia Ghafoor; Amy C Gottschalk; Joseph Laakman; Renee L Eigsti; Marcus Nashelsky; John Blau; Marco M Hefti

doi:10.1093/jnen/nlab072

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The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series

Journal article

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The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series

Kyle S Conway, Fozia Ghafoor, Amy C Gottschalk, Joseph Laakman, Renee L Eigsti, Marcus Nashelsky, John Blau and Marco M Hefti

Journal of neuropathology and experimental neurology, Vol.80(9), pp.856-860

09/27/2021

DOI: 10.1093/jnen/nlab072

PMCID: PMC8476076

PMID: 34363665

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Abstract

Abstract 1p36 deletion syndrome is the most common terminal deletion syndrome, manifesting clinically as abnormal facies and developmental delay with frequent cardiac, skeletal, urogenital, and renal abnormalities. Limited autopsy case reports describe the neuropathology of 1p36 deletion syndrome. The most extensive single case report described a spectrum of abnormalities, mostly related to abnormal neuronal migration. We report the largest published series of 1p36 autopsy cases, with an emphasis on neuropathologic findings. Our series consists of 3 patients: 2 infants (5-hours old and 23-days old) and 1 older child (11 years). Our patients showed abnormal cortical gyration together with a spectrum of neuronal migration abnormalities, including heterotopias and hippocampal abnormalities, as well as cerebellar hypoplasia. Our findings thus support the role of neuronal migration defects in the pathogenesis of cognitive defects in 1p36 deletion syndrome and broaden the reported neuropathologic spectrum of this common syndrome.

Malformations

Pediatric neuropathology

1p36 deletion

Developmental neuropathology

Details

Title: Subtitle: The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series
Creators: Kyle S Conway - University of Iowa
Fozia Ghafoor - University of Iowa
Amy C Gottschalk - University of Iowa
Joseph Laakman - University of Iowa
Renee L Eigsti - University of Iowa
Marcus Nashelsky - University of Iowa
John Blau - University of Iowa
Marco M Hefti - University of Iowa
Resource Type: Journal article
Publication Details: Journal of neuropathology and experimental neurology, Vol.80(9), pp.856-860
DOI: 10.1093/jnen/nlab072
PMID: 34363665
PMCID: PMC8476076
NLM abbreviation: J Neuropathol Exp Neurol
ISSN: 0022-3069
eISSN: 1554-6578
Publisher: Oxford University Press
Grant note: DOI: 10.13039/100000002, name: National Institutes of Health, award: UL1TR002537, K23NS109284; name: Iowa Neuroscience Institute; name: Roy J. Carver Trust
Language: English
Date published: 09/27/2021
Academic Unit: Epidemiology; Pathology; Iowa Neuroscience Institute
Record Identifier: 9984183998202771

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