Molecular Genetics and Metabolism Reports (Dec 2020)

Successful recovery from severe hypertension in a patient with Leigh syndrome

  • Yuto Arai,
  • Kiyotaka Kosugiyama,
  • Takuya Tamura,
  • Sasagu Matsumoto,
  • Akira Sudo,
  • Hideaki Shiraishi,
  • Cammack Ivor,
  • Akira Ohtake,
  • Kiyoshi Nagumo

Journal volume & issue
Vol. 25
p. 100684

Abstract

Read online

Hypertension is a rare complication of Leigh Syndrome (LS), but prognosis of patients with hypertension is poor and its presence is indicative of the terminal stage of the disease. Herein, we report a four-year-old girl case diagnosed with LS at 15 months of age who subsequently developed severe hypertension and respiratory failure. Physical examination and laboratory findings did not indicate a secondary cause of hypertension. Her respiratory failure was treated with non-invasive ventilation and hypertension controlled with enalapril, furosemide and spironolactone. To our knowledge, this is the first case of a patient with LS recovering from severe hypertension.

Keywords