Proliferative vasculopathy and an hydranencephalic-hydrocephalic syndrome: a neuropathological study of two siblings

Abstract

Two female siblings were born with an hydranencephalic-hydrocephalic syndrome, following pregnancies complicated by hydramnios. No environmental factors such as infections, drugs or metabolic disorders were noted during either pregnancy. Neuropathological studies revealed identical changes in each case. The characteristic feature of the pathology was a proliferative vasculopathy throughout the central nervous system, which apparently caused focal ischaemic lesions and progressive destruction of CNS tissue. The defect probably is inherited as an autosomal recessive trait.