Chromium and cobalt intoxication mimicking mitochondriopathy

A 53-year old male with a history of progressive visual impairment, hearing loss, peripheral neuropathy, poorly controlled diabetes mellitus, cardiomyopathy, and weight loss was referred to the rare disease center due to the suspicion of mitochondrial cytopathy. In line with mitochondrial dysfunction, lactate in CSF was increased. Genetic testing by whole-exome sequencing and mitochondrial DNA did not reveal a likely cause. The case remained unsolved until he developed pain in his right hip, where he had received total hip arthroplasty 12 years earlier. An orthopedic evaluation revealed substantial shrinkage of the head of the hip prosthesis. Due to metal-on-metal wear, debris chromium and cobalt levels in serum were massively increased and significantly improved with multisystemic impairment after exchanging the defective implant.

Automated summary

A 53-year-old male with a history of various health issues was referred to a rare disease center for suspected mitochondrial cytopathy, but genetic testing did not confirm this. It was only after experiencing hip pain which traced back to a hip arthroplasty 12 years prior that the cause of his symptoms was discovered to be related to metal-on-metal wear from the defective implant. Following implant replacement, the patient's condition significantly improved.