[Carnitine deficiency myopathy: a case of late diagnosis]. / Miopatía por déficit de carnitina: un caso de diagnóstico tardío.

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.

Miopatía por déficit de carnitina: un caso de diagnóstico tardío / Carnitine deficiency myopathy: a case of late diagnosis

Las miopatías causadas por trastornos del metabolismo lipídico son un grupo patológico poco frecuente, entre las que destacan las asociadas a déficit de carnitina. En este grupo se distinguen dos formas clínicas: la forma miopática, que suele cursar con niveles séricos normales de carnitina y concentraciones descendidas en músculo, y la forma sistémica, que cursa con crisis de encefalopatía y disfunción hepática además de la clínica miopática, y en la que suelen estar descendidas las concentraciones de carnitina en suero, músculo e hígado. Ambas formas muestran en la biopsia acúmulos lipídicos característicos. Presentamos el caso de una forma miopática de déficit de carnitina, excepcional por la edad de la paciente en el momento del diagnóstico, cuya evolución fue desfavorable. Se ha descrito que ciertas modificaciones dietéticas, como el uso de triglicéridos de cadena media, la restricción de grasas o el incremento de carbohidratos de la dieta, así como la prednisona y los suplementos orales de carnitina, pueden producir mejorías clínicas, sin modificar significativamente las concentraciones musculares de carnitina (AU)

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[Evolution of exocrine function of the pancreas after acute pancreatitis. Prognosis factors]. / Evolución de la función exocrina del páncreas tras la pancreatitis aguda. Factores pronósticos.

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.