Congenital neuropathy with prevailing axonal changes. A clinical and histological report

A case of congenital neuropathy associated with an unclassified chronic brain disorder is described. Morphological findings differ from the reported congenital neuropathies where primary myelin change have been usually found. In contrast, sural nerve biopsy showed marked signs of active or past axonal degeneration; at the teasing and morphometric analysis there was also some evidence of segmental demyelination. Atypical onion bulb formations (Evans and Murray type) and a very poor demyelination activity stressed the prevailing axonal involvement with possibly secondary segmental demyelination.