Olivo-ponto-cerebellar atrophy with muscular atrophy, joint contractures and pulmonary hypoplasia of prenatal onset.

The clinical and pathological features of a female neonate with congenital joint contractures and pulmonary hypoplasia are described. Neuropathological examination revealed a widespread neuronal degeneration with a predominantly olivo-ponto-cerebellar distribution and muscle pathology consistent with neurogenic atrophy. This is the first reported case of congenital joint contractures and pulmonary hypoplasia with pathologically documented olivo-ponto-cerebellar degeneration. The observation further illustrates that the so-called fetal akinesia sequence or Pena-Shokeir I syndrome is an aetiologically non-specific symptom complex that can be caused by a number of underlying mechanisms.