Exercise-induced rhabdomyolysis and transient loss of deambulation as outset of partial carnitine palmityl transferase II deficiency.
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.
Department of Pediatric Sciences, Università Cattolica Sacro Cuore, Largo A. Gemelli no. 8, 00168, Rome, Italy. drigante@gmail.com
Donato
D
Rigante
Giulia
G
Bersani
Adele
A
Compagnone
Anna
A
Zampetti
Alessia
A
De Nisco
Emanuela
E
Sacco
Raffaella
R
Marrocco
D000293:Adolescent; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency; D015444:Exercise; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000473:pathology* / Q000503:physiopathology; D051346:Mobility Limitation; D018908:Muscle Weakness / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D012206:Rhabdomyolysis / Q000209:etiology / Q000473:pathology* / Q000503:physiopathology
D002334:Carnitine O-Palmitoyltransferase