A Case of Progressive Hypertrophic Neuropathy in Childhood with Facial Diplegia: Dejerine-Sottas Disease

Due to unknown underlying biochemical disorders, the delineation of Dejerine-sottas disease has been subject to recent controversy. This is a case of a 9 year-old Korean female with the clinical manifestations of sporadic occurence, chronic severe and symmetrical motor sensory polyneuropathy, thickened palpable peripheral nerves, facial diplegia, areflexia and abnormal pupillary reactivity to light. The electrophysiological studies are indicative of chronic demyelination neuropathy showing markedly slowed motor NCV, low and dispersed CMAPs and extreme dispersion of a SNAP. The pathology of the sural nerve reveals prominant hypomyelination and onion bulbs characterized by whorling concentric proliferations of the cytoplasmic processes of Schwann cells. The nosological problems of hypertrophic neuropathy in childhood are discussed.