Pontocerebellar hypoplasias

Pontocerebellar hypoplasias

 

 

These are a group of mostly autosomal recessive disorders characterized by a smaller volume of the pons which may not exceed the width of the medulla oblongata (see Fig) and varying degrees of cerebellar hypoplasias up to complete absence, which is very rare. Most types of pontocerebellar hypoplasias arise in the fetal period, suggesting a rhombic lip defect and the MATH1 gene as a candidate for this disorder. 

Pontocerebellar hypoplasias can be classified into congenital olivopontocerebellar atrophy, the type I and type II pontocerebellar hypoplasias with spinal atrophy and extrapyramidal dysfunction, respectively, and the congenital disorders of glycosylation, type I and III.

 

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