Cerebellar hypoplasia

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmad Muneeb, MBBS[2]

Synonyms and keywords:


Cerebellar hypoplasia is a condition in which cerebellar volume is significantly reduced but its shape remains intact. It occurs in multiple diseases and has various patterns on neuroimaging. Variety of prenatal insults have been associated with cerebellar hypoplasia. Diagnosis of cerebellar hypoplasia can be made prenatally as well as postnatally. Prognosis and treatment of cerebellar hypoplasia largely depend upon the underlying etiology.

Historical prespective

There is no available data on historical perspective of cerebellar hypoplasia.




Cerebellar hypoplasia may be caused by variety of etiologies listed below in the table.[1]

Disease processes/groups Examples
Genetic disorders gillepsie syndrome, beckwith-Wiedemann syndrome, ritscher shinzel syndrome, hoyeraal hreidarsson syndrome, charge syndrome,

endostel sclerosis, Delleman syndrome, epilepsy and permanent neonatal diabetes syndrome, neurofibromatosis, pseudo torch syndrome,

velocardiofacial syndrome, cohen syndrome, pallister killian syndrome, cri du chat syndrome, senger syndrome, galloway mowat syndrome, CASK mutation, cerebellar agenesis.

Metabolic diseases adenylsuccinase deficiency, molybdenum cofactor deficiency, smith-lemli-opitz syndrome, Zellweger syndrome, copper metabolism disease, mucopolysacchridoses,mitochondrial disorders, congenital glycosylation disorders
Prenatal infections Congenital cytomegalo virus
Prenatal teratogens Antiepileptic drugs (valproic acid, phenytoin), retinoic acid, cocaine, alcohol
Disruptive lesions Cerebellar agenesis, cerebellar injury secondary to prematurity
Brain malformations Dandy walker syndrome, Rhombencephalosynapsis, Joubert syndrome, pontine tegmental cap dysplasia, lissencephaly, polymicrogyria, primary microcephaly.

To review risk factors for the development of [disease name], click here.

Differentiating cerebellar hypoplasia from other Diseases

Epidemiology and Demographics



Risk Factors

Natural History, Complications and Prognosis

  • Prognosis of cerebellar hypoplasia generally depends upon the underlying etiology. Cerebellar hypoplasia associated with non-progressive disorders (e.g abnormal brain formation during fetal development), has a relatively better prognosis. On the other hand, cerebellar hypoplasia associated with progressive conditions has poor prognosis.[16]


Diagnostic criteria

There is no specific diagnostic criteria for cerebellar hypoplasia.

History and Symptoms.

Physical Examination

  • Physical examination may be remarkable for:[12][17]

Laboratory findings

  • There are no specific laboratory findings associated with cerebellar hypoplasia. Lab findings may be abnormal depending upon the underlying etiology.


There are no ECG findings associated with cerebellar hypoplasia.


There are no x-ray findings associated with cerebellar hypoplasia.


There are no echocardiographic findings associated with cerebellar hypoplasia.

CT scan

Brain CT scan may be helpful in the diagnosis of [cerebellar hypoplasia] but MRI remains the diagnostic study of choice.


MRI is the diagnostic study of choice for diagnosis of cerebellar hypoplasia. Findings on MRI suggestive of cerebellar hypoplasia include small trans cerebellar diameter, reduced cerebellar volume with intact cerebellar morphology, and prominent subarachnoid spaces. It can also identify one of the 4 patterns of cerebellar hypoplasia that include unilateral cerebellar hypoplasia, hypoplasia involving cerebellar vermis, hypoplasia involving both cerebellar hemispheres and vermis, pontocerebellar hypoplasia.[19][1] Sometimes in pontocerebellar hypoplasia, cerebellar hemispheres are so profoundly involved that neuroimaging reveals a "dragonfly" appearance showing small flattened cerebellar hemispheres with relatively spared vermis. [20]

Other Imaging Studies

Inutero ultrasonography can reveal reduced trans cerebellar diameter along with other findings suggestive of cerebellar hypoplasia. Diffusion tensor imaging may be helpful in the diagnosis of cerebellar hypoplasia. Cerebellar microarchitecture and cerebellar white matter tracts along with their connections are ellaborated by diffuse tensor imaging. Disruptive lesions can be better identified using susceptibilty weighted imaging as it has high sensitivity for blood products and calcifications.[21][22][19]

Other Diagnostic Studies

There are no other diagnostic studies associated with cerebellar hypoplasia.


  • There is no standard treatment for cerebellar hypoplasia; the mainstay of therapy is symptomatic and supportive care and largely depends upon the underlying etiology.[16]


  • There are no primary preventive measures available for [cerebellar hypoplasia].


External links


  1. 1.0 1.1 1.2 1.3 Poretti A, Boltshauser E, Doherty D (June 2014). "Cerebellar hypoplasia: differential diagnosis and diagnostic approach". Am J Med Genet C Semin Med Genet. 166C (2): 211–26. doi:10.1002/ajmg.c.31398. PMID 24839100. |access-date= requires |url= (help)
  2. "Cerebellar hypoplasia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". Retrieved 2020-08-15.
  3. Subashini C, Dhanesh SB, Chen CM, Riya PA, Meera V, Divya TS, Kuruvilla R, Buttler K, James J (February 2017). "Wnt5a is a crucial regulator of neurogenesis during cerebellum development". Scientific Reports. 7: 42523. doi:10.1038/srep42523. PMC 5311982. PMID 28205531. |access-date= requires |url= (help)
  4. Davis CA, Joyner AL (December 1988). "Expression patterns of the homeo box-containing genes En-1 and En-2 and the proto-oncogene int-1 diverge during mouse development". Genes & Development. 2 (12B): 1736–44. doi:10.1101/gad.2.12b.1736. PMID 2907320. |access-date= requires |url= (help)
  5. Jiang C, Gai N, Zou Y, Zheng Y, Ma R, Wei X, Liang D, Wu L (January 2017). "WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family". Clinica Chimica Acta; International Journal of Clinical Chemistry. 464: 24–29. doi:10.1016/j.cca.2016.10.029. PMID 27983999. |access-date= requires |url= (help)
  6. Poretti A, Prayer D, Boltshauser E (September 2009). "Morphological spectrum of prenatal cerebellar disruptions". European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society. 13 (5): 397–407. doi:10.1016/j.ejpn.2008.09.001. PMID 18945628. |access-date= requires |url= (help)
  7. Barth PG (1993). "Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset". Brain & Development. 15 (6): 411–22. doi:10.1016/0387-7604(93)90080-r. PMID 8147499. |access-date= requires |url= (help)
  8. Boltshauser E (May 2004). "Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions". American Journal of Medical Genetics. Part a. 126A (4): 376–85. doi:10.1002/ajmg.a.20662. PMID 15098235. |access-date= requires |url= (help)
  9. Poretti A, Wolf NI, Boltshauser E (May 2008). "Differential diagnosis of cerebellar atrophy in childhood". European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society. 12 (3): 155–67. doi:10.1016/j.ejpn.2007.07.010. PMID 17869142. |access-date= requires |url= (help)
  10. 10.0 10.1 10.2 Howley MM, Keppler-Noreuil KM, Cunniff CM, Browne ML (November 2018). "Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study". Birth Defects Research. 110 (19): 1419–1432. doi:10.1002/bdr2.1388. PMC 6265081. PMID 30230717. |access-date= requires |url= (help)
  11. Shevell MI, Majnemer A (October 1996). "Clinical features of developmental disability associated with cerebellar hypoplasia". Pediatric Neurology. 15 (3): 224–9. doi:10.1016/s0887-8994(96)00220-2. PMID 8916160. |access-date= requires |url= (help)
  12. 12.0 12.1 12.2 Wassmer E, Davies P, Whitehouse WP, Green SH (May 2003). "Clinical spectrum associated with cerebellar hypoplasia". Pediatric Neurology. 28 (5): 347–51. doi:10.1016/s0887-8994(03)00016-x. PMID 12878295. |access-date= requires |url= (help)
  13. Guibaud L, des Portes V (May 2006). "Plea for an anatomical approach to abnormalities of the posterior fossa in prenatal diagnosis". Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. 27 (5): 477–81. doi:10.1002/uog.2777. PMID 16619384. |access-date= requires |url= (help)
  14. Graham JM, Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB (September 2010). "Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?". American Journal of Medical Genetics. Part a. 152A (9): 2268–76. doi:10.1002/ajmg.a.33579. PMC 2931360. PMID 20803644. |access-date= requires |url= (help)
  15. Brossard-Racine M, Poretti A, Murnick J, Bouyssi-Kobar M, McCarter R, du Plessis AJ, Limperopoulos C (March 2017). "Cerebellar Microstructural Organization is Altered by Complications of Premature Birth: A Case-Control Study". The Journal of Pediatrics. 182: 28–33.e1. doi:10.1016/j.jpeds.2016.10.034. PMID 27843009. |access-date= requires |url= (help)
  16. 16.0 16.1 "Cerebellar Hypoplasia Information Page: National Institute of Neurological Disorders and Stroke (NINDS)". Retrieved 2020-08-14.
  17. 17.0 17.1 Bolduc ME, Limperopoulos C (April 2009). "Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review". Dev Med Child Neurol. 51 (4): 256–67. doi:10.1111/j.1469-8749.2008.03224.x. PMID 19191827. |access-date= requires |url= (help)
  18. Ventura P, Presicci A, Perniola T, Campa MG, Margari L (September 2006). "Mental retardation and epilepsy in patients with isolated cerebellar hypoplasia". Journal of Child Neurology. 21 (9): 776–81. doi:10.1177/08830738060210091301. PMID 16970885. |access-date= requires |url= (help)
  19. 19.0 19.1 Garel C (June 2010). "Posterior fossa malformations: main features and limits in prenatal diagnosis". Pediatric Radiology. 40 (6): 1038–45. doi:10.1007/s00247-010-1617-7. PMID 20432023. |access-date= requires |url= (help)
  20. Lerman-Sagie T, Prayer D, Stöcklein S, Malinger G (2018). "Fetal cerebellar disorders". Handbook of Clinical Neurology. 155: 3–23. doi:10.1016/B978-0-444-64189-2.00001-9. PMID 29891067. |access-date= requires |url= (help)
  21. Poretti A, Meoded A, Rossi A, Raybaud C, Huisman TA (January 2013). "Diffusion tensor imaging and fiber tractography in brain malformations". Pediatric Radiology. 43 (1): 28–54. doi:10.1007/s00247-012-2428-9. PMID 23288476. |access-date= requires |url= (help)
  22. Bosemani T, Poretti A, Huisman TA (September 2014). "Susceptibility-weighted imaging in pediatric neuroimaging". Journal of Magnetic Resonance Imaging : JMRI. 40 (3): 530–44. doi:10.1002/jmri.24410. PMID 24925729. |access-date= requires |url= (help)