Orphan diseases and anaesthesia. Perip with Charcot‐Marie‐Tooth disease

Abstract

Charcot-Marie-Tooth (CMT) disease, is an inherited peripheral neuropathy. Pes cavus is an associated foot deformity. Concerns exist as to whether regional anaesthesia is safe in patients with a neuropathy. We have performed ultrasound-guided lower limb peripheral nerve blocks in two patients with CMT undergoing surgery for pes cavus. They obtained significant analgesia and at follow up, there was no worsening of their neuropathy. Informed consent demands a balanced view on the benefits and risks. Unfortunately the data to guide management of patients with orphan diseases such as CMT is lacking and growing expertise with ultrasound mitigates the risks. Even expert opinion varies. Defensive medicine may ill serve the patients with orphan diseases. Our limited experience demonstrates that it is possible to achieve good and safe analgesia using regional anaesthetic techniques in patients with CMT. Systematic data collection concerning outcomes following regional anaesthesia in these patients is required.