Cerebellar hypoplasia

This article is about human cerebellar hypoplasia. For cerebellar hypoplasia in other animals, see cerebellar hypoplasia (non-human). Not to be confused with pontocerebellar hypoplasia.
Cerebellar hypoplasia
Normal cerebellum (lower area)
SpecialtyNeurology

Cerebellar hypoplasia is characterized by reduced cerebellar volume, even though cerebellar shape is (near) normal. It consists of a heterogeneous group of disorders of cerebellar maldevelopment presenting as early-onset non–progressive congenital ataxia, hypotonia and motor learning disability.

Various causes have been identified, including hereditary, metabolic, toxic and viral agents. It was first reported by French neurologist Octave Crouzon in 1929.[1] In 1940, an unclaimed body came for dissection in London Hospital and was discovered to have no cerebellum. This unique case was appropriately named "human brain without a cerebellum" and was used every year in the Department of Anatomy at Cambridge University in a neuroscience course for medical students.[2]

Cerebellar hypoplasia can sometimes present alongside hypoplasia of the corpus callosum or pons. It can also be associated with hydrocephalus or an enlarged fourth ventricle; this is called Dandy–Walker malformation.[3]

  1. ^ Crouzon O (1929). "Atrophie cérébelleuse idiotique, in Études sur les Maladies Familiales Nerveuses et Dystrophiques". Paris: Masson: 90–111.
  2. ^ Lemon RN, Edgley SA (March 2010). "Life without a cerebellum". Brain: A Journal of Neurology. 133 (Pt 3): 652–4. doi:10.1093/brain/awq030. PMID 20305277.
  3. ^ Aldinger, Kimberly A.; Doherty, Dan (October 2016). "The genetics of cerebellar malformations". Seminars in Fetal & Neonatal Medicine. 21 (5): 321–332. doi:10.1016/j.siny.2016.04.008. ISSN 1744-165X. PMC 5035570. PMID 27160001.