Anesthésie d’une enfant presentant une dysplasie anhydrotique ectodermique associée à une myopathie multiminicore

Abstract

To report the perioperative management of anesthesia and analgesia in a child presenting with the association of multiminicore myopathy (MMM) and anhydrotic ectodermic dysplasia (AED). An eight-year-old girl was admitted for elective orthopedic surgery of the lower limbs. AED is a congenital dermatosis characterized by the absence of sweating and subsequent problems with thermoregulation; in addition, maxillary hypoplasia and abnormal teeth can render intubation difficult. MMM is a rare congenital myopathy characterized by proximal muscle weakness, stable in time or with a slow and progressive evolution. It can involve respiratory muscles and be associated with severe cardiomyopathy. Moreover, MMM shares some characteristics with Central Core Disease which is known to be associated with malignant hyperthermia. Since depolarizing muscle relaxants and halogenated agents could not be used, a combined propofol-based intravenous anesthesia with lumbar epidural analgesia was chosen. This combination provided stable anesthesia, smooth recovery and excellent analgesia during and after the operation, without complications. Temperature was monitored closely during surgery and in the postoperative period. The association of MMM and AED requires rapid distinction between hyperthermia secondary to anhydrosis and malignant hyperthermia. The management should provide a "trigger-free" anesthetic and optimal postoperative analgesia without sedation. If appropriate for the surgical procedure, a combination of general with regional anesthesia is particularly attractive in achieving these objectives.