[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 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.
Gassó de Campos
M
M
Servicios de Análisis Clínicos. Complejo Hospitalario de Jaén. España. mgasso@supercable.es
Espín Jaime
B
B
Gómez Arias
J
J
Rodríguez García
R
R
Camacho Reina
M V
MV
Gámez Contreras
F
F
González Rivera
F
F
D005260:Female; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000235:genetics*; D007223:Infant; D008297:Male; D014802:Vitamin A Deficiency / Q000150:complications; D014811:Vitamin E Deficiency / Q000150:complications