title: Tangier's disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy.
abstract: Tangier disease is an autosomal recessive disorder characterized by an abnormal accumulation of cholesterol esters in various organs secondary to adenotriphosphate binding cassette transporter A-1 (ABCA-1) transporter deficiency and disrupted reverse cholesterol transport. It 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 misdiagnosed leprosy and treated with antileprosy drugs. The presence of a demyelinating neuropathy on electrophysiology in a patient with predominant upper limb involvement and facial diplegia should raise the suspicion of Tangier disease. The characteristic lipid profile of Tangier disease was noted in this patient viz. extremely low high density lipoprotein (HDL), elevated triglyceride (TG), and reduced apolipoprotein A1. Estimation of serum lipids should form a part of routine evaluation in order to avoid misdiagnosis.
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: Madhu
authors.initials: M
authors.lastname: Nagappa
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: Arun B
authors.initials: AB
authors.lastname: Taly
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: Anita
authors.initials: A
authors.lastname: Mahadevan
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: M
authors.initials: M
authors.lastname: Pooja
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: P S
authors.initials: PS
authors.lastname: Bindu
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: Y T
authors.initials: YT
authors.lastname: Chickabasaviah
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: N
authors.initials: N
authors.lastname: Gayathri
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: Sanjib
authors.initials: S
authors.lastname: Sinha
keywords: Lipid profile; Tangier disease; neuropathy