RESUMO
En el presente trabajo se exponen los antecedentes prenatales, perinatales y posnatales de un lactante de 6 meses de edad, del sexo masculino, con clorhidrorrea congénita, así como el cuadro clínico, diagnóstico y tratamiento utilizado. Un elemento significativo lo constituyó la expulsión anal de abundante líquido no meconial desde las primeras horas de nacido, así como alcalosis metabólica grave y la presencia de desnutrición rápidamente progresiva. En los exámenes complementarios se constató hipocloremia de un 50 por ciento con respecto a las cifras de referencia y un pH sanguíneo mayor de 7,50. El diagnóstico confirmatorio se obtuvo al comprobar concentraciones de cloro en heces fecales superiores a las de la suma de sodio y potasio. Se proponen indicadores diagnósticos prenatales entre los que tienen gran valor la consanguinidad, el polihidramnios y los resultados del ultrasonido en el tercer trimestre del embarazo. El diagnóstico precoz permitió establecer el tratamiento y evitó el frecuente desenlace fatal. Es el primer caso de esta enfermedad que se informa en el país(AU)
In present paper are showed the prenatal, perinatal and postnatal backgrounds from a male breast-fed baby aged 6 months presenting with congenital chlorhydria, as well as the clinical picture, diagnosis and treatment applied. A significant element was the anal expulsion of non-meconium abundant fluid from the first hours of born, as well as a severe metabolic alkalosis and the presence of a quickly progressive malnutrition. In complementary examinations was confirmed a 50 percent hypochloremia regarding the reference figures and a blood pH over 7,50. Confirmatory diagnosis was achieved verifying the chlorine concentrations in feces higher to that of the sum of sodium and potassium. Prenatal diagnostic indicators are proposed those with higher value including the consanguinity, polyhydramnios and the US results during the third trimester of pregnancy. Early diagnosis allowed us to establish the treatment and to prevent a fatal outcome. This is the firs case of this entity reported in our country(AU)
Assuntos
Humanos , Masculino , Recém-Nascido , Diarreia Infantil/congênito , Alcalose/congênito , Transtornos da Nutrição do Lactente/congênito , Fatores de Risco , Consanguinidade , Poli-HidrâmniosAssuntos
Alimentação com Mamadeira/métodos , Aleitamento Materno , Fenômenos Fisiológicos da Nutrição do Lactente/fisiologia , Comportamento de Sucção/fisiologia , Mama/anatomia & histologia , Aleitamento Materno/psicologia , Deglutição/fisiologia , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Lactente , Transtornos da Nutrição do Lactente/congênito , Transtornos da Nutrição do Lactente/fisiopatologia , Recém-Nascido , Lactação , Masculino , Leite Humano/metabolismo , Mamilos/anatomia & histologiaRESUMO
We report the case of a newborn who showed typical signs of rickets at birth craniotabes and severe hypocalcemia. The diagnosis of fetal rickets was confirmed by radiography. Maternal deficiency was revealed by an excessively low vitamin D level. The multiparous Moroccan mother had suffered low back pain and paraesthesia for several years. She wore the veil and rarely left her home. Nutritional and vitamin D deficiency was demonstrated. We report this exceptional case to recall the importance of vitamin D in the development of fetal calcium supply, the prevention of gravid osteomalacia and the prevention of neonatal hypocalcemia. Vitamin D supplementation (ideally 1000 IU per day during the third trimester or at least one 100,000 IU dose at the sixth and eighth months or a single dose of 2 to 3,000,000 IU at the sixth month) should be the rule in pregnancy.
