An uncommon cause of bifacial weakness and non-length-dependent demyelinating neuropathy

Abstract

Tangier disease is a rare metabolic disorder that causes neuropathy in half of the affected individuals. We present the clinical, electrophysiological, and histopathological findings in a middle-aged gentleman of Tangier disease who was initially diagnosed as leprosy and treated with antileprosy drugs. The presence of a demyelinating electrophysiology in a patient with predominant upper limb involvement and facial diplegia should raise the suspicion of Tangier disease. Estimation of serum lipids should form a part of routine evaluation in order to avoid misdiagnosis.

Keywords: Demyelinating neuropathy; facial weakness; tangier disease.

Figure 1

Schematic representation of distribution of reduced sensation to temperature and pain (A), and bifacial palsy resulting in incomplete eye closure (B). The color of tonsils is ambiguous (C). Biopsy of the sural nerve (D and E) shows vacuolation of Schwann cell cytoplasm (D) and mild depletion of small diameter myelinated fibers (F). Skin biopsy (F and G) shows bloated, vacuolated fibroblasts (F) that stain positively with Oil Red O confirming the lipid rich material (G). Electron micrograph reveals numerous lipid vacuoles in the cytoplasm of fibroblasts (H)