ABSTRACT
Myopathies caused by lipidic metabolism alterations are very infrequent. Carnitine deficiency-associated myopathies are included in this group. Two main types of carnitine deficiency syndromes have been delineated: a predominantly myopathic form, with normal serum and low muscle carnitine levels, and a systemic form, with encephalopathy, hepatic dysfunction, muscle weakness and low muscle, liver and serum carnitine levels. Both types have typical lipid stores in muscle biopsy. We describe the case of a myopathic form of carnitine deficiency. Due to the age of the patient, this is an unusual case, with an unfavourable evolution. Therapeutic measures used in these patients have included prednisone, carnitine replacement and a low-fat with medium chain tryglycerides and high-carbohydrate diet. However, in none of the patients responding to therapy, a significative increase in muscle carnitine has been demonstrated.
Subject(s)
Carnitine/deficiency , Lipid Metabolism, Inborn Errors/diagnosis , Muscular Diseases/diagnosis , Adult , Female , Humans , Lipid Metabolism, Inborn Errors/physiopathology , Muscular Diseases/etiology , SyndromeABSTRACT
Using the NBT-PBA test, we studied pancreatic exocrine function in two groups of patients: one group with acute pancreatitis of lithiasic origin that underwent cholecystectomy and other with pancreatitis of alcoholic origin. The test was performed at the time of the acute picture and later at one month, three months, six months and a year. Regardless of etiology, exocrine pancreatic function was always impaired after acute pancreatitis, no case showing recuperation at one month of the picture but some did at three months (64% of the lithiasis group and 25% of the alcoholic group). We also attempted to relate the recuperation of the exocrine pancreas with the amylase levels, leukocytosis and calcemia encountered in the acute phase. The only correlation found was a poorer and later recuperation in the patients with the lowest calcemia levels during the acute picture.
