Neuropathology of 22q11 Deletion Syndrome in an Infant
Abstract
The 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and one of the chromosomal conditions most associated with psychosis and autism spectrum disorder. To date, only 2 neuropathologic studies of 22q11DS have been reported. Findings included polymicrogyria, neuronal heterotopias, excess subcortical white-matter (interstitial) neurons, significant white-matter gliosis/hypomyelination, and microvasculopathy. Here, we report on a 3-month-old infant with documented 22q11DS, tetralogy of Fallot, and pulmonary atresia. The brain exhibited tortuous cerebral vessels and proportionately smaller occipital lobes. Histologic examination revealed cerebral white-matter pathology and subtle differences in cortical lamination, including an excess of interstitial white-matter neurons compared with a sample of age-matched controls. There was a 15% increase in DARPP-32+ medium spiny neurons in the anterior-superior caudate. In this first neuropathologic report of an infant with 22q11DS, the findings were similar to previously reported manifestations and are likely secondary to perfusion issues, developmental microvasculopathy, and abnormal frontal cortical development.
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Neuropathological observations in 22q11.2 deletion include more numerous medium spiny neurons in the caudate and interstitial neurons in subcortical white matter.
“Neuropathological observations include more numerous medium spiny neurons in the caudate and interstitial neurons in subcortical white matter [390].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [390]
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“2 CNV carriers are warranted.”
- Authors
- Wu, P., Teot, L., Murdoch, G., Monaghan-Nichols, A. P., & McFadden, K.
- Affiliations
- University of Pittsburgh (US)
- Boston Children's Hospital (US)
- Department of Neurobiology, University of Pittsburgh School of Medicine, 6065 BST 3, 3501 Fifth Avenue, Pittsburgh, PA 15213, USA
- Corresponding author
- McFadden, Kathryn
- Venue
- Pediatric and Developmental Pathology
- Publisher
- SAGE Publications
- Published
- 2014-09
- Volume
- 17
- Issue
- 5
- Pages
- 386-392
- ISSN
- 1093-5266 (ISSN-L)
- 1615-5742
- OpenAlex
- W2034291682
- Cited by
- 14
- References
- 16
- Citations by year
- 2026: 1 · 2024: 1 · 2023: 1 · 2021: 3 · 2020: 3 · 2019: 2 · 2017: 1 · 2016: 1 · 2015: 1
- FWCI
- 0.66
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Pediatric and Developmental Pathology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Keywords
- 22q11.2 deletion syndrome, infant brain, DARPP-32, medium spiny neurons, caudate nucleus, cortical lamination, microvasculopathy, cerebral perfusion, tetralogy of Fallot, pulmonary atresia, polymicrogyria, neuronal heterotopia
- MeSH terms
- Autopsy, Brain, Chromosomes, Human, Pair 22, Humans, Infant, Male, Neurons, Genetic Predisposition to Disease, 22q11 Deletion Syndrome
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