Exercise-induced rhabdomyolysis and transient loss of deambulation as outset of partial carnitine palmityl transferase II deficiency
| Autor: | Raffaella Marrocco, Adele Compagnone, Giulia Bersani, Anna Zampetti, Alessia De Nisco, Donato Rigante, Emanuela Sacco |
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| Přispěvatelé: | Department of Pediatric Sciences, Università cattolica del Sacro Cuore [Milano] (Unicatt), Department of Dermatology, Department of Orthopaedics and Traumatology |
| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
Male
medicine.medical_specialty Adolescent Immunology Carnitine palmityl transferase II deficiency 03 medical and health sciences 0302 clinical medicine Rheumatology Internal medicine Biopsy medicine Humans Immunology and Allergy 030212 general & internal medicine Carnitine Mobility Limitation Myopathy Exercise Muscle Weakness Carnitine O-Palmitoyltransferase medicine.diagnostic_test Exercise-induced rhabdomyolysis business.industry Muscle weakness medicine.disease Surgery Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA Anesthesia rhabdomyolysis medicine.symptom business Acute rhabdomyolysis Rhabdomyolysis Metabolism Inborn Errors 030217 neurology & neurosurgery medicine.drug myopathy |
| Zdroj: | Rheumatology International Rheumatology International, Springer Verlag, 2009, 31 (6), pp.805-807. ⟨10.1007/s00296-009-1221-z⟩ |
| ISSN: | 0172-8172 1437-160X |
| DOI: | 10.1007/s00296-009-1221-z⟩ |
| Popis: | International audience; 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. |
| Databáze: | OpenAIRE |
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