Neuropathy in Tangier disease: A clinicopathologic study and a review of the literature

A new case of Tangier disease is described. It is the 33rd case in world literature and only the 2nd in Italy. A 52-year-old man showed a widely spread neuropathy with facial diplegia, bilateral wasting of hand muscles and dissociated loss of pain and temperature sensation sparing the distal parts of the lower limbs. Clinical and laboratory data were typical of Tangier disease. A histological and ultrastructural study of the patient's superficial peroneal nerve and brevis peroneus muscle was carried out. A revision of the clinical and neuropathological aspects of the neuropathy of Tangier disease allowed our case to be included within a particular neurological description. Four patients with similar clinical characteristics had been noted previously. Clinical, morphological and biochemical data suggest the hypothesis that there are two different neuropathic forms of Tangier disease.