Dr Henry Knipe and Dr Bruno Di Muzio et al.

Macrocerebellum, also known as cerebellar hyperplasia, refers to a rare condition characterised by an abnormally enlarged cerebellum with preserved architecture and shape. It is usually demonstrated on imaging with a thickening of the cortical gray matter of the cerebellar hemispheres.

Macrocerebellum is a rare imaging finding, only a few case have been reported 3.  

It is usually dependent on the underlying disease. Hypotonia, ataxia, and ocular movement disorders are related in patients with a isolated macrocerebellum 1,2

The aetiology is unknown. For some authors it is not considered an independent entity, but a manifestation of different conditions 2,3. For others is a cerebellar response to the elaboration of growth factors intended to augment the slow development of cerebral structures 1.

It can be found as an isolated (non-syndromic) condition or as part of well-defined syndrome, such as Costello syndrome and Sotos syndrome, or neurometabolic diseases (e.g. mucopolysaccharidosis type I and II) 2.

There is no malformation, only a diffusely enlarged cerebellum, especially due to cerebellar hemispheres cortical gray matter 2,3.

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Article information

rID: 37974
Section: Pathology
Tag: cases
Synonyms or Alternate Spellings:
  • Cerebellar hyperplasia

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