Cerebro-hepato-renal syndrome of Zellweger: An inherited disorder of neuronal migration

摘要

A child afflicted with the hereditary cerebro-hepato-renal syndrome of Zellweger is reported. Important neurological features included: marked weakness and generalized hypotonia, recurrent seizures, and failure of development of visual, auditory or other sensory discriminations and “high-level” motor responses. Neuropathological study revealed a primary disturbance of development of the brain. The developmental disturbance consisted essentially of an incomplete migration of neuroblasts to form the cerebral cortical plate. The findings are discussed in relation to other types of cerebral dysgenesis. It is postulated that the precise disorder of neuronal migration in this disease delineates a specific step, probably mediated by a single protein, in the formation of the cerebral cortex. An additional finding, less certain of interpretation, is a widespread, diffuse degeneration of medullated nerve fibers in the cerebral white matter with phagocytosis of sudanophilic material by histiocytes and microglial ce