OLIVOPONTOCEREBELLAR HYPOPLASIA - CASE-RE PORT OF A NEURODEGENERATIVEDISEASE MANIFESTING AT BIRTH AND HAVING A FATAL OUTCOME

We report on a boy with pontocerebellar hypoplasia Typ II according to the classification of Earth. The clinical signs were noted at birth a nd consisted of muscular hypertonus, central hypopnoe requiring artifi cial ventilation, chorea, hyperthermia above 40 degrees C and myocloni c seizures resistent to all therapeutic modalities. At birth, the boy was noted to have macrocephaly, but was microcephalic by 3 months of a ge. He failed to develop any mental or motor facilities. After cessati on of all therapy the child died at the age of 3 1/2 months. Postmorte m examination of the brain revealed loss of neurons and gliosis affect ing the olivo-ponto-cerebellar system, signs characteristic of PCH.