Peripheral neuropathy in Marinesco-Sjögren syndrome

A case of Marinesco-Sjögren syndrome manifesting cataract, short stature, psychomotor retardation, hypogonadism, and progressive ataxia was described. The result of electrophysiological study reflected the presence of peripheral nerve involvement, which was clearly confirmed by sural nerve biopsy. The conspicuous abnormality observed in the peripheral nerve was the presence of segmental demyelination. The process of axonal degeneration was not remarkable. Results confirmed that Marinesco-Sjögren syndrome is a disorder which may involve both central and peripheral nervous system.