Exercise-induced rhabdomyolysis and transient loss of deambulation as outset of partial carnitine palmityl transferase II deficiency

Donato Rigante (1) , Giulia Bersani (1) , Adele Compagnone (1) , Anna Zampetti (2) , Alessia Nisco (1) , Emanuela Sacco (1) , Raffaella Marrocco (3)

1 Department of Pediatric Sciences
2 Department of Dermatology
3 Department of Orthopaedics and Traumatology

We report the case of a 13-year-old boy with an abrupt onset of leg pain and muscle weakness, incapability of deambulation and a laboratory picture of exercise-induced acute rhabdomyolysis. Intravenous hyperhydration and forced diuresis were adopted to avoid renal complications. No evidence of articular or residual muscular damage was appreciated in the short-term. The recurrence of rhabdomyolysis required a muscular biopsy showing a disturbance of fatty acid β-oxidation pathway.

Mots clés: Rhabdomyolysis; Carnitine palmityl transferase II deficiency

Donato Rigante, Giulia Bersani, Adele Compagnone, Anna Zampetti, Alessia Nisco, et al.. Exercise-induced rhabdomyolysis and transient loss of deambulation as outset of partial carnitine palmityl transferase II deficiency. Rheumatology International, 2009, 31 (6), pp.805-807. ⟨10.1007/s00296-009-1221-z⟩. ⟨hal-00615340⟩