Se presenta el caso de una paciente de 5 meses, de padres consanguíneos y prematura de 28 semanas de gestación, con signos de distensión abdominal intermitentes que se acompañaban de incremento de las regurgitaciones y de vómitos tras las tomas y cuyas importantes alteraciones bioquímicas (niveles descendidos de triglicéridos, colesterol, vitamina A y ausencia de apolipoproteína B y vitamina E) permitieron establecer el diagnóstico de hipobetalipoproteinemia homozigoto, por estudios genéticos posteriores.

We present the case of a 5-month-old girl, with consanguineous parents, who was born at 28 weeks of gestation and who showed intermittent signs of abdominal distension accompanied by increased regurgitation and vomiting after food intake. Significant biochemical alterations (reduced levels of triglicerides, cholesterol, and vitamin A and absence of apolipoprotein B and vitamin E) led to the diagnosis of homozygous hypobetalipoproteinemia, which was subsequently confirmed by genetic studies.