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Unilateral cerebellar hypoplasia

Case Detail

Anatomy: Brain-Spine
Borders
Heather Borders, MD
Diagnostic Category: Developmental or Congenital
Created: over 8 years ago
Updated: over 8 years ago
Tags: PEDS
Modality/Study Types: MR
Activities:
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History

Two year old female with difficulty with gross and fine motor skills.


Case Images


Diagnosis

Unilateral cerebellar hypoplasia

Clinical Notes

None

Findings

Mild generalized hypoplasia of the right cerebellar hemisphere.

Discussion

A hypoplastic cerebellum is incompletely formed or small but otherwise normal appearing. Hypoplastic cerebella result from reduction/premature cessation of cell production or cell migration or from excessive apoptosis in the developing cerebellum. The abnormality may involve a cerebellar hemisphere, vermis or both.

The etiology of cerebellar hypoplasia is not definitely known. Pathologic evidence of cerebellar injury due to birth asphyxia has been described. Cerebellar hypoplasia associated with hypoplasia or aplasia of the cerebellar or vertebral arteries suggests a vascular etiology. Genetic mutations with somatic mosaicism may also have a role.

Patients with diffuse hypoplasia generally have normal cerebra. The majority of patients with normal cerebra will have few symptoms related to a hypoplastic cerebellum.

Reference

Sandeep Patel and A. James Barkovich Analysis and Classification of Cerebellar Malformations American Journal of Neuroradiology 23:1074-1087, August 2002

Vagh JD, Gadekar A, Agrawal A, Deshmukh K. Unilateral cerebellar hypoplasia. Indian J Radiol Imaging 2009;19:146-7



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