Fatal outcome in a case of pontocerebellar hypoplasia type 2.

@article{Grellner2000FatalOI,
  title={Fatal outcome in a case of pontocerebellar hypoplasia type 2.},
  author={Wolfgang Grellner and Kristin Rohde and J. Wilske},
  journal={Forensic science international},
  year={2000},
  volume={113 1-3},
  pages={165-72}
}
Pontocerebellar hypoplasia (PCH) is a very rare congenital (autosomal recessive) condition with fetal onset. Only a few cases have been published on the basis of both clinical data (symptoms/neuroradiological imaging) and autopsy results. This paper reports on such a case involving a 1.5-year-old male infant. The child suffered from severe psychomotor delay, extrapyramidal dyskinesia and epileptic seizures, but did not exhibit signs of spinal muscular atrophy as related to PCH type 1. Magnetic… CONTINUE READING