ABSTRACT
El síndrome de Peutz-Jeghers es una rara enfermedad hereditaria, aunque se ha descrito hasta un 20% de casos esporádicos. Clínicamente se diagnostica por la asociación de una pigmentación mucocutánea facial y la presencia de pólipos intestinales de tipo hamartomatosos. Entre los problemas asociados se describen las intervenciones quirúrgicas secundarias a los pólipos intestinales, así como la alta incidencia de desarrollo de tumores que presentan en la edad adulta. Se presenta un caso de una niña de 10 años de edad, e historia de anemia rebelde al tratamiento, sin otros síntomas clínicos. El estudio demostró la presencia de pigmentación en la mucosa oral, así como la existencia de múltiples pólipos en aparato digestivo (estómago e intestino delgado). El estudio histológico de la biopsia intestinal confirmó la existencia de lesiones hamartomatosas. No existen antecedentes familiares conocidos de pigmentación o pólipos intestinales. En su evolución presentó un cuadro de invaginación intestinal que requirió practicar una resección limitada del intestino delgado (AU)
Subject(s)
Child , Female , Humans , Peutz-Jeghers SyndromeABSTRACT
Peutz-Jeghers syndrome is a rare hereditary disease, although in about 20 % of patients there is no known family history. Its clinical hallmarks are facial mucocutaneous pigmentation and diffuse gastrointestinal polyposis of hamartomatous origin. The major difficulty in the management of this disease lies in the complications of surgery for small bowel polyposis and the high incidence of tumors presented by these patients as adults. We present the case of a 10-year-old girl with treatment-resistant anemia and no other clinical symptoms. Further investigation revealed pigmentation in the oral mucosa and polyposis in the stomach and small intestine. Hamartomatous lesions were confirmed by histological study of intestinal biopsy. No familial antecedents of pigmentation or intestinal polyps were found. During evolution the patient required subtotal resection of the small intestine due to invagination.
Subject(s)
Peutz-Jeghers Syndrome/diagnosis , Child , Female , Humans , Peutz-Jeghers Syndrome/surgerySubject(s)
Sepsis/diagnosis , Streptococcal Infections/diagnosis , Streptococcus agalactiae , Female , Humans , Infant, Newborn , Recurrence , Time FactorsABSTRACT
OBJECTIVE: The objectives of this study were to know the prevalence of hepatitis C virus (HCV) in a population of pregnant women, to evaluate the vertical transmission rates of HCV in a prospective study and to determine the repercussions and consequences in children born to infected mothers. PATIENTS AND METHODS: A total of 6556 pregnant women were tested for HCV antibodies from January 1993 to August 1995. We followed 50 babies born to infected mothers for at least 12 months (mean 15 months). Serological assays employed included a screening ELISA II confirmed with immunoblot. Viral detection was performed by qualitative and quantitative PCR for HCV-RNA. RESULTS: Fifty-nine pregnant women were AcHCV(+). This represents a seroprevalence of 0.9%. Of the 50 babies followed, 6 were PCR(+) and 44 were PCR(-). The risk of transmission is correlated with the titer of HCV-RNA in the mother. All mothers of infected babies were HIV (-). CONCLUSIONS: The rate of prevalence in our pregnant women population is 0.9%. We found a vertical transmission rate of 12%. The high serum HCV-RNA titers in the mothers are a risk factor of transmission of HCV. The viremia in the children does not predict the apparition of the clinical disease, although they can exhibit intermittent increases of transaminases.
