Open AccessTangier′s disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy
Author(s) -
Madhu Nagappa,
Arun B. Taly,
Anita Mahadevan,
Pooja Mailankody,
PS Bindu,
YT Chickabasaviah,
Narayanappa Gayathri,
Sanjib Sinha
Publication year - 2016
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/0972-2327.175436
Subject(s) - tangier disease , medicine , apolipoprotein b , disease , gastroenterology , cholesterol , abca1 , transporter , genetics , gene , biology
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.