RESUMEN

The observations of two gypsy cousins born to consanguineous parents and exhibiting classical leucinemia are reminders that severe, life-threatening ketotic decompensations may occur at any time. Emergency exchange-transfusions in these two children aged 3 and 5 years reversed the course of extremely severe attacks. Medium term evaluations showed very satisfactory neuropsychologic development in both children. Pathogenesis and prevention of such episodes are discussed.

Asunto(s)

Errores Innatos del Metabolismo de los Aminoácidos/terapia , Recambio Total de Sangre , Leucina/metabolismo , Errores Innatos del Metabolismo de los Aminoácidos/complicaciones , Preescolar , Urgencias Médicas , Salud de la Familia , Femenino , Humanos , Cetosis/etiología , Factores de Tiempo