Resumen

O´DONNELL, Alejandro M.; LEVATTE, Pablo E.  y  UICICH, Raúl. Abetalipoproteinemia: monitoreo del tratamiento. Arch. argent. pediatr. [online]. 2004, vol.102, n.6, pp.487-490. ISSN 0325-0075.

Abetalipoproteinemia is a disease caused by a defect in the synthesis of b-lipoproteins, VLDL and chilomicrons. The clinical picture is characterized by chronic malabsorptive diarrhea, malnutrition, polyneuritis, ataxia, retinitis pigmentosa and acanthocytes in blood smears. We present a child with the typical manifestations of the disease. The response to the classical treatment was very good. The child also received periodic IV lipid infusions to provide essential fatty acids to improve his nutritional status, which we presumed as marginal given his fat malabsorption and a very low fat diet plus MCT. The sequence of infusions was every 15 days for the first five years, monthly later, and finally, every six months. Chromatographic analysis of subcutaneous adipose tissue samples showed a decrease in the concentration of EFA depending on the periodicity of IV lipid infusions, becoming progressively different from the composition of adipose tissue of normal subjects. It is concluded that adipose subcutaneous tissue biopsies are a useful tool for monitoring the nutritional status of patients with this rare disease, given the important functional consequences of EFA deficiency.

Palabras clave : Abetalipoproteinemia; Essential fatty acids; Subcutaneous adipose tissue composition.

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