TY - JOUR
T1 - Macrocerebellum
T2 - Significance and pathogenic considerations
AU - Poretti, Andrea
AU - Mall, Volker
AU - Smitka, Martin
AU - Grunt, Sebastian
AU - Risen, Sarah
AU - Toelle, Sandra P.
AU - Benson, Jane E.
AU - Yoshida, Shoko
AU - Jung, Nikolai H.
AU - Tinschert, Sigrid
AU - Neuhann, Teresa M.
AU - Rauch, Anita
AU - Steinlin, Maja
AU - Meoded, Avner
AU - Huisman, Thierry A.G.M.
AU - Boltshauser, Eugen
N1 - Funding Information:
Acknowledgments We thank the patients and their families for their cooperation. We are grateful to Dr. G. Hahn, Department of Pediatric Radiology, Children’s Hospital, Dresden, Germany for the neuroimag-ing data of a patient and Prof. Dr. A. Hamosh, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA for the genetic data of a patient. This work was supported by the Anna Müller Grocholski Foundation, Zurich, Switzerland (A.P.).
PY - 2012/12
Y1 - 2012/12
N2 - 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. AllMR 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.
AB - 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. AllMR 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.
KW - Cerebellum
KW - Cognitive functions
KW - Macrocerebellum. Neuroimaging
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UR - http://www.scopus.com/inward/citedby.url?scp=84870458188&partnerID=8YFLogxK
U2 - 10.1007/s12311-012-0379-1
DO - 10.1007/s12311-012-0379-1
M3 - Article
C2 - 22528964
AN - SCOPUS:84870458188
SN - 1473-4222
VL - 11
SP - 1026
EP - 1036
JO - Cerebellum
JF - Cerebellum
IS - 4
ER -