Pontocerebellar hypoplasia

Dr Daniel J Bell and Dr Bruno Di Muzio et al.

Pontocerebellar hypoplasia (PCH), also referred as pontocerebellar hypoplasia of Barth, is an autosomal recessive neurodegenerative disorder characterized by hypoplasia of the pons and cerebellum. Actually, 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.

Malformations of the central nervous system

Article information

rID: 37975
Tag: cases, cases
Synonyms or Alternate Spellings:
  • Pontocerebellar hypoplasia of Barth
  • Barth's pontocerebellar hypoplasia
  • Barth's pontocerebellar hypoplasias
  • Pontocerebellar hypoplasias
  • Pontocerebellar hypoplasias of Barth

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Cases and figures

  • Case 1
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  • Case 2
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