[MIM 268 200, 550 500]

Unknown prevalence and mode of transmission.

Mutations of several genes could be involved:

-        MT-CO1 and MT-CO2 of the mitochondrial DNA which codes for the mitochondrial C oxidase cytochrome

-        LPIN1 on 2p21, autosomal recessive transmission. This gene codes for a muscle acid phosphatase which plays a central role in the biosynthesis of membrane phospholipids and triglycerides.

Cases where a cause cannot be identified are grouped under the term of idiopathic rhabdomyolysis  or Meyer-Betz syndrome.

Myoglobinuria is by definition the excessive urinary excretion of myoglobin after the destruction of striated muscle fibers. First manifestations in children (average age 21 months): the episodes are often triggered by fever, a physical effort or prolonged fasting, or anesthesia. Symptoms: painful muscle stiffness, rapid elevation of CPK level with risk of hyperkalemia, kidney failure.

Anesthetic implications:

unknown. It is probably prudent to avoid the use of a surgical tourniquet, muscular compression (positioning), and hyperthermia. From a pharmacological point of view, avoid succinylcholine (fasciculations). It is unclear whether there is any risk of rhabdomyolysis in the presence of a halogenated agent (one published case). Fluid and calories (glucose 10 %) should be administered in an increased amount to avoid rhabdomyolysis.

References : 

• Bergounioux J, Brassier A, Rambaud C, Bustarret O et al. 
  Fatal rhabdomyolysis in 2 children with LPIN1 mutations. 
  J Pediatr 2012; 160: 1052-4.
• Zutt R, van der Kooi AJ, Linthorst GE, Wanders RJA de Visser M.
  Rhabdomyolysis: review of the literature.
  Neuromusc Disor 2014; 24:651-9
• Siciliani-Scalco R, Gardiner AR, Pitceathly RDS, Zanoteli E et al.
  Rhabdomyolysis: a genetic perspective.
  Orphanet J Rare Dis 2015; 10: 51.
• Burstal RJ. Volatile anesthesia for a child with LPIN1 gene mutation and recurrent rhabdomyolysis.
  Pediatr Anesth 2018; 28: 813-4.

Updated: September 2018