Mitochondrial disorder overlapping with aorto-iliac occlusive disease (Leriche-syndrome)

Abstract

Objectives

Diagnosing mitochondrial disorder (MCD) is challenging if symptoms and signs of a second trouble overlap with those of the MCD.

Case report

A 54-yo male developed muscle pain in his proximal lower and distal upper limbs, easy fatigability and exercise intolerance, and myoglobinurea. Based upon the clinical presentation, recurrent creatine-kinase elevation, highly abnormal lactate stress testing, abnormal muscle biopsy, and a positive MRI spectroscopy, MCD was diagnosed. Based upon progressing pain of the lower limbs, the development of claudication, recurrent falls, nightly, muscle cramping, gait disturbance, erectile dysfunction, the inability to sit, and an angiography revealing stenosis of the distal aorta, occlusion of the right iliac and left internal iliac and stenosis of the left external iliac artery, Leriche-syndrome was diagnosed. He profited from stenting of the left external iliac artery. Manifestations of MCD remained stable throughout the period of observation.

Conclusion

If the history is misleading or if manifestations of a MCD overlap with those of a Leriche-syndrome, diagnosing either condition is challenging, Atherosclerosis may be a feature of mitochondrial disease