Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset

Brain Dev. 1993 Nov-Dec;15(6):411-22. doi: 10.1016/0387-7604(93)90080-r.

Abstract

Cerebellar hypoplasia is common to a variety of congenital disorders. Both stable conditions and progressive (degenerative) disorders may cause cerebellar hypoplasia. Pontocerebellar hypoplasia (PCH) is distinct from cerebellar hypoplasias in general, because the ventral pons is affected. Reviewing both clinical and neuropathological evidence, two specific neurogenetic entities are delineated. It is proposed to call these, respectively, type 1 (PCH-1) and type 2 (PCH-2). In type 1 the hallmark is the presence of spinal anterior horn degeneration similar to Werdnig-Hoffmann disease. Presentation in the neonatal period is characterized by respiratory insufficiency, frequent congenital contractures, and a combination of central and peripheral motor signs. Patients die early, usually before 1 year of age. In type 2 the hallmark is the presence of chorea/dystonia, which is often severe, while spinal anterior horn pathology is absent. Patients have microcephaly and severely impaired mental and motor development. They frequently die during childhood. Neuronal degeneration in both types of PCH is non-specific. Reactive changes in the degenerated parts appear more extensive in type 1. Examples of both types are given. Differentiation of the two types appears straightforward and possible by clinical means. Carbohydrate-deficient glycoprotein syndrome, one other cause of (ponto)cerebellar hypoplasia, should be excluded in all cases of PCH by appropriate means.

Publication types

  • Review

MeSH terms

  • Cerebellar Diseases / congenital*
  • Cerebellar Diseases / pathology
  • Cerebellum / abnormalities*
  • Cerebellum / pathology
  • Female
  • Humans
  • Infant, Newborn
  • Olivopontocerebellar Atrophies / congenital
  • Olivopontocerebellar Atrophies / pathology
  • Pons / abnormalities*
  • Pregnancy