Assuntos
Endoglina/genética , Mutação de Sentido Incorreto , Displasia Septo-Óptica , Telangiectasia Hemorrágica Hereditária , Substituição de Aminoácidos , Pré-Escolar , Humanos , Masculino , Displasia Septo-Óptica/diagnóstico por imagem , Displasia Septo-Óptica/genética , Telangiectasia Hemorrágica Hereditária/diagnóstico por imagem , Telangiectasia Hemorrágica Hereditária/genéticaRESUMO
Breast feeding is known to be a major cause of vitamin D deficiency in infants because the content of vitamin D in breast milk is significantly lower than that in formula. We report a case of a 1-mo-old boy who developed hypocalcemic seizures and dilated cardiomyopathy caused by vitamin D deficiency despite being fed a sufficient amount of regular formula. The cause of vitamin D deficiency in this case was maternal vitamin deficiency due to severe hyperemesis and insufficient sunlight exposure, induced mainly by the malabsorption of fat-soluble vitamins caused by maternal cholestasis. We should carefully consider maternal conditions during pregnancy and the postpartum period to detect and prevent vitamin D deficiency in the fetus and infant.
