Olivo-ponto-cerebral hypoplasia--case report of a neurodegenerative disease manifesting at birth with a fatal outcome

We report on a boy with pontocerebellar hypoplasia Type II according to the classification of Barth. The clinical signs were noted at birth and consisted of muscular hypertonus, central hypopnoe requiring artificial ventilation, chorea, hyperthermia above 40 degrees C and myoclonic seizures resistant to all therapeutic modalities. At birth, the boy was noted to have macrocephaly, but was microcephalic by 3 months of age. He failed to develop any mental or motor facilities. After cessation of all therapy the child died at the age of 3 1/2 months. Postmortem examination of the brain revealed loss of neurons and gliosis affecting the olivo-ponto-cerebellar system, signs characteristic of PCH.