Elsevier

Brain and Development

Volume 15, Issue 6, November–December 1993, Pages 411-422
Brain and Development

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

https://doi.org/10.1016/0387-7604(93)90080-RGet rights and content

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 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.

Reference (67)

  • BarthPG et al.

    Inherited syndrome of microcephaly dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset

    J Neurol Sci

    (1990)
  • LarsellO et al.

    The comparative anatomy and histology of the cerebellum

    (1972)
  • FrenchBN

    The embryology of spinal dysraphism

    Clin Neurosurg

    (1983)
  • KoopM et al.

    Volumetric development of the fetal telencephalon, cerebral cortex, diencephalon, and rhombencephalon including the cerebellum in man

  • RakicP et al.

    Histogenesis of cortical layers in human cerebellum, particularly the lamina dissecans

    J Comp Neurol

    (1970)
  • SarnatHB et al.

    Human cerebellar hypoplasia: a syndrome or diverse causes

    Arch Neurol

    (1980)
  • HattenME et al.

    Defects in specific associations between astroglia and neurons occur in microcultures of weaver mouse cerebellar cells

    J Neurosci

    (1984)
  • BalázsR

    Amino acid transmitters in the adult and developing cerebellum

  • BalázsR

    Neurobiology of excitatory amino acids

  • FriedeRL

    Arrested cerebellar development: a type of cerebellar degeneration in amaurotic idiocy

    J Neurol Neurosurg Psychiatry

    (1964)
  • SugitaK et al.

    Magnetic resonance imaging of the brain in congenital rubella virus and cytomegalovirus infections

    Neuroradiology

    (1991)
  • PerlmanJM et al.

    Lethal cytomegalovirus infection in preterm infants: clinical, radiological, and neuropathological findings

    Ann Neurol

    (1992)
  • NakamuraY et al.

    Brain anomalies found in 18 trisomy: CT scanning, morphologic and morphometric study

    Clin Neuropathol

    (1986)
  • CromeL et al.

    A statistical note on cerebellar and brainstem weight in mongolism

    J Ment Defic Res

    (1966)
  • NormanRM

    Primary degeneration of the granular layer of the cerebellum: an unusual form of familial cerebellar atrophy occurring in early life

    Brain

    (1940)
  • JervisGA

    Concordant primary atrophy of the cerebellar granules in monozygotic twins

    Acta Genet Med Gemellol

    (1954)
  • JervisGA

    Early familial cerebellar degeneration

    J Nerv Ment Dis

    (1950)
  • WichmanL et al.

    Autosomal recessive congenital cerebellar hypoplasia

    Clin Genet

    (1985)
  • YoungID et al.

    Sex-linked recessive congenital ataxia

    J Neurol Neurosurg Psychiatry

    (1987)
  • RiccardiVM et al.

    Congenital hydrocephalus and cerebellar agenesis

    Clin Genet

    (1978)
  • TroostD et al.

    Cerebral calcifications and cerebellar hypoplasia in two children: clinical, radiologic and neuropathological studies — A separate neurodevelopmental entity

    Neuropediatrics

    (1984)
  • HaltiaM et al.

    Infantile cerebello-optic atrophy: neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome)

    Acta Neuropathol

    (1993)
  • JaekenJ et al.

    An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids

    Lancet

    (1984)
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    This paper was presented as an invited lecture at the 35th annual meeting of the Japanese Society of Child Neurology, Kyoto, June 17–19, 1993.

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