"Floppy brain" in congenital hydrocephalus.
L1CAM
axon development
brain biomechanics
cortical development
hydrocephalus
Journal
Cerebral cortex (New York, N.Y. : 1991)
ISSN: 1460-2199
Titre abrégé: Cereb Cortex
Pays: United States
ID NLM: 9110718
Informations de publication
Date de publication:
24 07 2023
24 07 2023
Historique:
received:
18
04
2023
revised:
21
05
2023
accepted:
22
05
2023
pmc-release:
06
06
2024
medline:
3
8
2023
pubmed:
7
6
2023
entrez:
7
6
2023
Statut:
ppublish
Résumé
Hydrocephalus is classically considered to be a disorder of altered cerebrospinal fluid (CSF) circulation, leading to the dilation of cerebral ventricles. Here, we report a clinical case of a patient who presented with fetal-onset hydrocephalus with diffusely reduced cortical and white matter volumes resulting from a genetic mutation in L1CAM, a well-known hydrocephalus disease gene involved in neuronal cell adhesion and axon development. After CSF was drained from the ventricle intraoperatively, the patient's cortical mantle collapsed and exhibited a "floppy" appearance on neuroimaging, suggesting an inability of the hydrocephalic brain to maintain its structural integrity. The case provides clinical support for altered brain biomechanical properties in human hydrocephalus and adds to the emerging hypothesis that altered brain development with secondary impact on brain structural stability may contribute to ventricular enlargement in some subsets of hydrocephalus.
Identifiants
pubmed: 37280765
pii: 7190928
doi: 10.1093/cercor/bhad206
pmc: PMC10393502
doi:
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
9339-9342Subventions
Organisme : NICHD NIH HHS
ID : F30 HD106694
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM136651
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS111029
Pays : United States
Informations de copyright
© The Author(s) 2023. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permission@oup.com.
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