Observations on hypertrophic neuropathy of Déjerine and Sottas

Abstract

Four cases of hypertrophic neuropathy occuring in 2 unrelated families are described. They illustrate a wide variability in clinical manifestations with relapses and remissions in one and areflexia as the only major clinical finding in another. Motor nerve conduction velocity measurements showed pronounced slowing in all affected patients, irrespective of the severity of clinical deficit. Clinically unaffected relatives had normal conduction velocities. Autopsy in one case showed advanced involvement of cranial and spinal nerves. Biopsy of a peripheral nerve in a case from the other family studied showed similar but less severe findings in a patient with a remitting and relapsing course. Spinal nerve root enlargement was demonstrated by myelography in one case and distortion of the spinal cord had probably occurred in the autopsied case. Pyruvate tolerance tests carried out in one patient were suggestive of an abnormality of pyruvate metabolism. Repeated observations to confirm this are required. We believe that these and other reported cases form an etiologically distinct group within the wider range of patients having a peripheral neuropathy with enlarged nerves.