Chromium and cobalt intoxication mimicking mitochondriopathy
Tim W Rattay1,2, Torsten Kluba3, Ludger Schöls4,5
1Department for Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, Center for Neurology, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany. Tim.Rattay@uni-tuebingen.de.
Neurological Research and Practice
|July 9, 2021
Summary
A rare disease diagnosis was delayed by suspected mitochondrial cytopathy, but was ultimately linked to metal-on-metal hip implant wear. Treatment involved replacing the defective implant, leading to significant multisystemic improvement.
Area of Science:
- Rare Diseases
- Orthopedics
- Toxicology
Background:
- A 53-year-old male presented with progressive multisystemic symptoms including visual impairment, hearing loss, neuropathy, cardiomyopathy, and weight loss.
- Initial suspicion focused on mitochondrial cytopathy, supported by elevated cerebrospinal fluid (CSF) lactate levels.
- Standard genetic testing, including whole-exome sequencing and mitochondrial DNA analysis, failed to identify a causative genetic mutation.
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