Abstract

We describe two patients with metachromatic leucodystrophy who presented with peripheral neuropathy and had no evidence of central nervous system involvement at the time of presentation. Such an occurrence is not well recognized and the diagnosis is usually missed until the other features of the disease manifest themselves. Early recognition of this disease may become of practical importance from the point of view of therapy, judging from recent developments, and is also important from the point of view of genetic counselling. We suggest that cases of peripheral neuropathy in infancy and childhood, should be subjected to peripheral nerve biopsy when the aetiology is not obvious.