A case report of Tangier disease presents with acute sensorimotor polyneuropathy and its treatment approach

J Clin Lipidol. 2024 Mar-Apr;18(2):e285-e289. doi: 10.1016/j.jacl.2023.11.015. Epub 2023 Dec 2.

Abstract

Polyneuropathy is a frequently encountered clinical presentation where peripheral nerves are affected due to the same cause and physiopathological processes. We report a case of acute sensorimotor polyneuropathy in a patient with Tangier disease (TD) who was treated with miglustat which is a glycosphingolipid synthesis inhibitor. TD is a very rare genetic disorder caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene which encodes the cholesterol efflux regulatory protein. It leads to accumulation of cholesterol esters within various tissues and affects lipid metabolism by deficiency of high-density lipoprotein (HDL) in the blood. Due to the accumulation of cholesterol esters in Schwann cells, it could provoke polyneuropathy in TD. Our case presented to our clinic with quadriparesis and after treated with miglustat therapy his weakness regressed.

Keywords: Cholesterol esters; Miglustat; Polyneuropathies; Tangier disease.

Publication types

  • Case Reports

MeSH terms

  • 1-Deoxynojirimycin* / analogs & derivatives*
  • 1-Deoxynojirimycin* / therapeutic use
  • ATP Binding Cassette Transporter 1 / genetics
  • Acute Disease
  • Humans
  • Male
  • Middle Aged
  • Polyneuropathies* / diagnosis
  • Polyneuropathies* / drug therapy
  • Tangier Disease* / complications
  • Tangier Disease* / drug therapy
  • Tangier Disease* / genetics

Substances

  • 1-Deoxynojirimycin
  • miglustat
  • ATP Binding Cassette Transporter 1