Navigation auf zora.uzh.ch

Search ZORA

ZORA (Zurich Open Repository and Archive)

DDOS: due to massive botnet requests against our ‘Advanced Search’ we have restricted access to UZH (local and VPN). Thank you for your understanding.

Macrocerebellum: significance and pathogenic considerations

Abstract

Macrocerebellum is a rare finding characterized by an abnormally large cerebellum. Only few patients with a syndromal or isolated macrocerebellum have been reported so far. This article aims to categorize the magnetic resonance imaging (MRI) findings, quantitate the macrocerebellum by volumetric analysis, characterize the neurological and dysmorphic features and cognitive outcome, and report the results of genetic analyses in children with macrocerebellum. All MR images were qualitatively evaluated for infratentorial and supratentorial abnormalities. Volumetric analysis was performed. Data about neurological and dysmorphic features, outcome, and genetic analysis were collected from clinical histories and follow-up examinations. Five patients were included. Volumetric analysis in three patients confirmed large cerebellar size compared to age-matched controls. MR evaluation showed that thickening of the cortical gray matter of the cerebellar hemispheres is responsible for the macrocerebellum. Additional infratentorial and supratentorial abnormalities were present in all patients. Muscular hypotonia, as well as impaired motor and cognitive development, was found in all patients, with ocular movement disorders in three of five patients. The five patients differed significantly in terms of dysmorphic features and involvement of extracerebral organs. Submicroscopic chromosomal aberrations were found in two patients. Macrocerebellum is caused by thickening of the cortical gray matter of the cerebellar hemispheres, suggesting that cerebellar granule cells may be involved in its development. Patients with macrocerebellum show highly heterogeneous neuroimaging, clinical, and genetic findings, suggesting that macrocerebellum is not a nosological entity, but instead represents the structural manifestation of a deeper, more basic biological disturbance common to heterogeneous disorders.

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Neurology
Health Sciences > Neurology (clinical)
Language:English
Date:2012
Deposited On:23 Jan 2013 12:32
Last Modified:08 Jun 2025 01:36
Publisher:Springer
ISSN:1473-4222
OA Status:Green
Publisher DOI:https://doi.org/10.1007/s12311-012-0379-1
PubMed ID:22528964
Download PDF  'Macrocerebellum: significance and pathogenic considerations'.
Preview
  • Content: Published Version
  • Language: English
  • Description: Nationallizenz 142-005

Metadata Export

Statistics

Citations

Dimensions.ai Metrics
21 citations in Web of Science®
24 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

212 downloads since deposited on 23 Jan 2013
11 downloads since 12 months
Detailed statistics

Authors, Affiliations, Collaborations

Similar Publications