Familial hypobetalipoproteinemia

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 trigli...

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Bibliographic Details
Published in:Anales de pediatría (Barcelona, Spain : 2003) Spain : 2003), 2003-06, Vol.58 (6), p.608-611
Main Authors: Gassó de Campos, M, Espín Jaime, B, Gómez Arias, J, Rodríguez García, R, Camacho Reina, M V, Gámez Contreras, F, González Rivera, F
Format: Article
Language:Spanish
Subjects:
Female
Humans
Hypobetalipoproteinemias - genetics
Infant
Male
Vitamin A Deficiency - complications
Vitamin E Deficiency - complications
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Summary: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.
ISSN:1695-4033