Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?

Eur J Paediatr Neurol. 2008 Mar;12(2):97-101. doi: 10.1016/j.ejpn.2007.06.005. Epub 2007 Jul 30.

Abstract

Despite major recent advances in our understanding of developmental cerebellar disorders, classification and delineation of these disorders remains difficult. The term pontocerebellar hypoplasia is used when there is a structural defect, originating in utero of both pons and cerebellar hemispheres. The term olivopontocerebellar atrophy is used when the disorder starts later in life and the process is a primary degeneration of cerebellar neurons. Pontocerebellar hypoplasia type 1 is associated with spinal anterior horn cell degeneration, congenital contractures, microcephaly, polyhydramnion and respiratory insufficiency leading to early death. However, anterior horn cell degeneration has also been described in cases with later onset pontocerebellar atrophy and recently the spectrum has even been further extended to include the association of anterior horn cell degeneration and cerebellar atrophy without pontine involvement. We describe two siblings from a consanguineous Moslem Arabic family who presented with progressive degeneration of both the cerebellum and the anterior horn cells. The patients presented after 1 year of age with a slow neurodegenerative course that included both cognitive and motor functions. There is considerable phenotypic variability; the sister shows a much milder course. Both children are still alive at 6 and 9 years. The sister could still crawl and speak two word sentences at the age of 3 years while the brother was bedridden and only uttered guttural sounds at the same age. Our cases further extend the phenotype of the cerebellar syndromes with anterior horn cell involvement to include a childhood onset and protracted course and further prove that this neurodegenerative disorder may start in utero or later in life.

Publication types

  • Case Reports

MeSH terms

  • Adenosine Triphosphatases / metabolism
  • Anterior Horn Cells / pathology*
  • Atrophy
  • Cerebellar Diseases / pathology*
  • Cerebral Ventricles / pathology
  • Child
  • Child, Preschool
  • Cisterna Magna / pathology
  • Consanguinity
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Muscle, Skeletal / enzymology
  • Phenotype
  • Pons / pathology*
  • Spinocerebellar Degenerations / pathology*
  • Tomography, X-Ray Computed

Substances

  • Adenosine Triphosphatases