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Cited by 45Genetic Syndromes and ImprintingGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

A neuropathological study of a case of the prader-willi syndrome with an interstitial deletion of the proximal long arm of chromosome 15

Hayashi, Masaharu, Itoh, Masahiro, Kabasawa, Yasuhiro, Hayashi, Hirotaka, Satoh, Junichi, Morimatsu, Yoshio·1992·Brain and Development
DOI 10.1016/s0387-7604(12)80281-6
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Abstract

An autopsy case, a 6-month-old girl, with an interstitial deletion of the long arm of chromosome 15;del(15)(q11.1q12) was reported. Muscle hypotonia, poor sucking and intermittent ocular deviation were noticed soon after birth. She also exhibited external features peculiar to the Prader-Willi syndrome (PWS). The muscle hypotonia persisted and head control was not achieved. She died at the age of 6 months due to bronchopneumonia. G-banding analysis of prometaphase chromosomes revealed a deletion of chromosome 15. Bronchopneumonia of the lungs and fatty metamorphosis of the liver were found. Neuropathological anomalies recognized were; disturbed undulating structures, resembling cortical micropolygyria and pachygyria, in the dentate nucleus and the inferior olivary nucleus, grumose degeneration of the nerve cells in the dentate nucleus, and heterotopia of middle-sized neurons in the cerebellar white matter. No abnormalities were observed in the hypothalamus-pituitary system. In some autopsy cases of PWS, cerebellar lesions have been reported. These might be related to the muscle hypotonia in PWS.

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  • Neuropathological findings in Prader-Willi syndrome subjects include abnormal distribution of cells in the dentate and olivary nuclei, nerve degeneration in the dentate nucleus, cerebellar heterotopia, enlarged ventricles, reduced parieto-occipital lobe volume, multiple small gyri in the sylvian fissure, incompletely operculated insula, and smaller cerebellum and brainstem.

    “Neuropathological findings in subjects with Prader-Willi syndrome include abnormal distribution of cells in the dentate and olivary nuclei, nerve degeneration in the dentate nucleus, cerebellar heterotopia [150], enlarged ventricles, reduced volume of parieto-occipital lobe, multiple small gyri in the sylvian fissure, incompletely operculated insula [239], and smaller cerebellum and brainstem [222”

    From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [150]

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Authors
Hayashi, M., Itoh, M., Kabasawa, Y., Hayashi, H., Satoh, J., & Morimatsu, Y.
Affiliations
  • Tokyo Medical and Dental University (JP)
  • National Hospital Organization (JP)
Corresponding author
Hayashi, Masaharu
ORCID
Venue
Brain and Development
Publisher
Elsevier BV
Published
1992-01
Volume
14
Issue
1
Pages
58-62
ISSN
0387-7604 (ISSN-L)
DOI
10.1016/s0387-7604(12)80281-6
OpenAlex
W2004958125
Cited by
45
References
16
Citations by year
2022: 3 · 2021: 1 · 2020: 1 · 2019: 1 · 2018: 2 · 2017: 3 · 2016: 1 · 2015: 4 · 2014: 2 · 2012: 1
FWCI
0.22
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • Brain and Development (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords
Prader-Willi syndrome, interstitial deletion, neuropathology, hypotonia, cerebellar lesions, dentate nucleus, inferior olive, pachygyria, heterotopia, bronchopneumonia, infants
MeSH terms
Brain, Cerebral Cortex, Chromosome Deletion, Chromosomes, Human, Pair 15, Female, Humans, Infant, Karyotyping, Organ Size, Prader-Willi Syndrome

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