[Respiratory and renal dysfunctions due to lipid storage metabolic myopathy: case report].
We report a case of a 26-years old male patient with rhabdomyolisis with myoglobinuria associated with acute renal and respiratory failure, that occurred three days after upper airway infection. In the clinical and laboratory investigation of the patient, including electromyography and muscular biopsy, the diagnostic lead to a metabolic myopathy due to an enzymatic deficiency related to a disorder of lipid metabolism. The patient improved successfully with institution of advanced life support, including ventilatory assistance, dialysis, dietary adjust and L-carnitine reposition.
Campos Filho
Walther de Oliveira
Wde O
Unidade de Terapia Intensiva, Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil.
Nicolini
Edson
E
Auxiliadora Martins
Maria
M
Zucoloto
Sérgio
S
Basile Filho
Aníbal
A
D000328:Adult; D050260:Carbohydrate Metabolism; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D006801:Humans; D050356:Lipid Metabolism; D008297:Male; D009135:Muscular Diseases / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D051437:Renal Insufficiency / Q000209:etiology*; D012131:Respiratory Insufficiency / Q000209:etiology*
D002334:Carnitine O-Palmitoyltransferase