Hipobetalipoproteinemia familiar

Gassó de Camposa, M.; Espín Jaime, B.; Gómez Arias, J.; Camacho Reina, M.aV.; Gámez Contrerasa, F.; González Rivera, F.

doi:10.1016/S1695-4033(03)78130-2

Anales de Pediatría (English Edition)

ISSN: 2341-2879

The Spanish Pediatric Association (Asociación Española de Pediatría, AEP) has as one of its main objectives the dissemination of rigorous and up-to-date scientific information on the various areas of pediatrics. Annals of Pediatrics is an open access journal that serves as the Association's Scientific Expression Organ and constitutes the vehicle through which members communicate. Annals of Pediatrics publishes, in English and Spanish, original research papers on pediatrics, as well as review articles prepared by experts in each specialty, and guidelines or positioning documents prepared by the different Societies/Specialized Sections integrated into the Spanish Pediatric Association. The journal, a reference for Spanish-speaking pediatrics, is indexed in the most important international databases: Index Medicus/Medline IBECS, IME, SCOPUS, Science Citation Index Expanded, Journal Citations Report, Embase/Excerpta Medica, Directory of Open Access Journals (DOAJ).

Indexed in:

Index Medicus/Medline IBECS, IME, SCOPUS, Science Citation Index Expanded, Journal Citations Report, Embase/Excerpta Medica, Directory of Open Access Journals (DOAJ)

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.

Palabras claves:

Hipobetalipoproteinemia

Dislipemia primaria

Déficit de vitamina E y vitamina A

Déficit de vitaminas liposolubles

Acantocitosis

Esteatorrea

Malabsorción

Déficit de apolipoproteína B

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.

Key words:

Hypobetalipoproteinemia

Primary dyslipemia

Vitamin E Vitamin A deficiency

Liposoluble vitamin deficiency

Acanthocytosis Steatorrhea

Malabsorption

Apolipoprotein B deficiency

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