Pontocerebellar hypoplasia

Last revised by Dr Dalia Ibrahim on 13 Jun 2022

Pontocerebellar hypoplasia, also referred as pontocerebellar hypoplasia of Barth, is an autosomal recessive neurodegenerative disorder characterized by hypoplasia of the pons and cerebellum. This condition has 10 different described subtypes, all of them with a prenatal onset 3

History and etymology

Pontocerebellar hypoplasia was first described as a specific entity by a Dutch pediatric neurologist, Peter G Barth (fl. 2018) in 1990 4.

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Cases and figures

  • Case 1
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  • Case 2
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  • Case 3
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