Neuropediatrics 2012; 43 - FV11_03
DOI: 10.1055/s-0032-1307050

Macrocerebellum: not a clinical and neuroimaging entity

A Poretti 1, V Mall 2, M Smitka 2, S Grunt 3, S Toelle 1, N Jung 4, M Steinlin 3, T Huisman 5, E Boltshauser 1
  • 1Neuropädiatrie, Universitäts-Kinderklinik Zürich, Zürich, Switzerland
  • 2Neuropädiatrie, Universitätsklinikum Carl G. Carus Dresden, Dresden, Germany
  • 3Neuropädiatrie, Universitätsklinik für Kinderheilkunde Bern, Bern, Switzerland
  • 4Neuropädiatrie, Universitätskinderklinik Freiburg, Freiburg, Germany
  • 5Pediatric Radiology, The Johns Hopkins University, Baltimore, United States

Aims: Macrocerebellum is a very rare finding and implies an abnormally large cerebellum. Only few patients with a syndromal or isolated macrocerebellum have been reported so far. We aim to evaluate the MRI spectrum, objectify the macrocerebellum by volumetric analysis, characterize neurological/dysmorphic features and cognitive outcome and report genetic analysis.

Methods: All images were qualitatively evaluated for infra- and supratentorial abnormalities. A volumetric analysis was performed using MRI Studio software. Data about neurological and dysmorphic features, outcome and genetic analysis were collected from clinical history and follow-up examination.

Results: 5 children were included (median age 2.5 years, range 1–3 years; 3 males, 2 females). The volumetric analysis in 3 patients confirmed the increased cerebellar size compared to age matched controls (in the 2 other patients the volumetric analysis could not be performed). The MRI evaluation showed that an enlargement of the cortical gray matter of the cerebellar hemispheres was mainly contributing to the macrocerebellum. Different additional infra- and supratentorial abnormalities were present in all patients. Muscular hypotonia, ocular movement disorders and impaired motor and cognitive development were found in all children. 3 of 5 patients suffered from epileptic seizures. The 5 children differed significantly in terms of dysmorphic features and involvement of extra-cerebral organs. Chromosomal anomalies were found in 2 patients (a deletion and a duplication on different chromosomes).

Conclusion: Based on the literature and our study, all patients with a macrocerebellum have variable impairments in motor and cognitive development. However, the additional neuroimaging findings, dysmorphic features, involvement of extra-cerebral organs and genetic results are highly heterogeneous, suggesting that macrocerebellum is not a clinical and neuroimaging entity.

Cerebellum - Magnetic resonance imaging - volumetric analysis - macrocerebellum