Sural Nerve Pathology in the Carbohydrate‐deficient Glycoprotein Syndrome

Abstract

Sural nerve biopsies from nine children with the carbohydrate deficient glycoprotein (CDG) syndrome were examined. The light and electron microscopical findings were consistent with a mild neuropathy of complex pathogenesis in all the children. The most striking finding was an attenuation of myelin sheaths and the presence of multivacuolar myelinoid bodies in the Schwann cells, indicating a change in myelin turnover. Degeneration of scattered unmyelinated fibres suggests that axons may also be primarily affected. Fibrillary‐crystalline cytoplasmic inclusions were found in endo‐and epineurial fibroblasts in all the cases. The neuropathological features support the contention that this syndrome represents a new type of error of macromolecular metabolism.