THE CLINICAL SPECTRUM AND MORPHOLOGY OF TYPE II HEREDITARY SENSORY NEUROPATHY

Abstract

Consistent morphological features were found in sural nerve biopsies of four sporadic cases of sensory neuropathy. The morphological finding of marked fascicular atrophy, a profound loss of myelinated fibres and a relative preservation of unmyelinated fibres are typical of those previously found in the recessive form of hereditary sensory neuropathy (HSN-II). Variable clinical manifestations contrasted with this morphological specificity. Where clinical doubt exists, the value of nerve biopsy in distinguishing HSN types I and II is emphasized. Long-term clinical follow-up and a comparison of repeat nerve biopsy data indicated that HSN-II is a progressive disorder.