Neuropathy in Tangier Disease

Abstract
FAMILIAL recurrent neuropathy is an unusual condition. When it does occur, a specific biochemical abnormality is occasionally detected when the clinical syndrome is part of Refsum's disease, acute intermittent porphyria, or possibly Fabry's disease. In this paper is presented another biochemical abnormality associated with familial recurrent neuropathy, namely, αlipoprotein deficiency or Tangier disease. One of the two patients had additional features of prominent intestinal lipid storage. In the past, a low plasma cholesterol has been associated with neurologic disease in hereditary abetalipoproteinemia. This report is intended to alert the physician to the existence of another lipid deficiency state associated with a neurologic disorder, signaled by a low plasma cholesterol and readily diagnosed by careful study of the plasma lipids and lipoproteins. Clinical Description The first patient (NIH 06-63-22) is 16 years old. She had an essentially unremarkable childhood except for removal of enlarged tonsils at age 3; and