Intrauterine multisystem atrophy in siblings: A new genetic syndrome?

Abstract

A condition is described in two siblings, dying in early infancy, characterized by an extreme degree of cerebellar hypoplasia, hypoplasia or atrophy of the brain stem with partial preservation of cranial and spinal nerve nuclei, total degeneration of basal ganglia and thalamus, laminar atrophy of the cerebral cortex, and accumulation of sudanophil lipid in astrocytes and macrophages of the hemispheric white matter. It is suggested that this condition, possibly inherited as an autosomal recessive, may represent a progressive multisystem atrophy occurring in utero, affecting various parts of the neuraxis in different stages in their development.