RESUMEN
A 41-year-old female with 21 weeks of gestation is admitted to the hospital complaining of abdominal pain in epigastrium accompanied with pyrosis, nausea and vomit. Physical examination revealed a gravidic uterus at the level of the umbilicus and a painless epigastric mass. Laboratory test were normal. MRI showed a solid mass near the pancreatic body with dimensions of 6.4 x 6.2 x 4.8 cm compressing the stomach, duodenum and yeyunum, involving the superior third of the mesenteric vessels.
Asunto(s)
Pared Abdominal , Linfoma , Neoplasias Pancreáticas , Femenino , Humanos , Embarazo , Adulto , Duodeno , Páncreas , Dolor Abdominal/etiología , Neoplasias Pancreáticas/complicaciones , Neoplasias Pancreáticas/diagnóstico por imagenRESUMEN
Multiple lymphomatous polyposis is a rare entity that can involve different types of both B-cell and T-cell lymphomas, including mantle cell lymphoma. A 57-year-old male patient is presented with prolapse of the rectal canal associated with data of lower digestive tract bleeding. A colonoscopy and subsequent upper endoscopy were performed with findings compatible with lymphomatous polyposis. After a biopsy study, mantle cell lymphoma was diagnosed and chemotherapy treatment was started. The endoscopic finding of multiple lymphomatous polypoposis associated with an adequate histopathological diagnosis improves the treatment success rate in patients with different types of gastrointestinal lymphomas.
Asunto(s)
Neoplasias Colorrectales , Neoplasias Gastrointestinales , Linfoma de Células del Manto , Linfoma no Hodgkin , Prolapso Rectal , Masculino , Humanos , Adulto , Persona de Mediana Edad , Linfoma de Células del Manto/complicaciones , Linfoma de Células del Manto/diagnóstico por imagen , Prolapso Rectal/complicaciones , Neoplasias Gastrointestinales/complicaciones , Neoplasias Colorrectales/complicacionesRESUMEN
La deficiencia de biotinidasa es una alteración metabólica autosómica recesiva, que afecta la escisión de biotina disminuyendo su reciclado. Estudios en familiares del caso índice encontraron que generalmente ambos padres son portadores y los hermanos presentan el gen alterado; solo los homocigotos tienen síntomas que varían según el grado de deficiencia. Las madres pueden tener deficiencia moderada y mantenerse asintomáticas. En un estudio que utiliza células humanas expuestas a deficiencia de biotina, disminuyó el crecimiento celular y contribuyó al desarrollo de paladar hendido. La deficiencia de biotina en embarazadas ocasiona malformaciones en los productos. En recién nacidos, la deficiencia de biotinidasa se ha relacionado con síndrome VACTERL y páncreas anular. Se presenta el caso de una lactante con deficiencia de biotinidasa y defecto congénito de anillo vascular que rodea y comprime tráquea y esófago, alterando la deglución y la respiración. La niña fue suplementada con biotina e intervenida, con excelentes resultados.(AU)
Biotinidase deficiency is an autosomal recessive metabolic disorder that affects the cleavage of biotin. Family studies of the index case found that both parents are usually carriers and siblings have the altered gene, but only homozygotes have manifestations that vary depending on the deficiency grade. Mothers may have moderate deficiency and be asymptomatic; biotin deficiency in pregnant women causes defects in children. In a study, using human cells exposed to biotin deficiency, cell growth decreased contributing to the development of cleft palate. In newborns, biotinidase deficiency has been associated with VACTERL syndrome and annular pancreas. The case of an infant with biotinidase deficiency and congenital defect of the vascular ring is presented. This defect surrounds and compresses the trachea and esophagus, disturbing swallowing and breathing. Infant was supplemented with biotin and surgically intervened with excellent results.(AU)
RESUMEN
La deficiencia de biotinidasa es una alteración metabólica autosómica recesiva, que afecta la escisión de biotina disminuyendo su reciclado. Estudios en familiares del caso índice encontraron que generalmente ambos padres son portadores y los hermanos presentan el gen alterado; solo los homocigotos tienen síntomas que varían según el grado de deficiencia. Las madres pueden tener deficiencia moderada y mantenerse asintomáticas. En un estudio que utiliza células humanas expuestas a deficiencia de biotina, disminuyó el crecimiento celular y contribuyó al desarrollo de paladar hendido. La deficiencia de biotina en embarazadas ocasiona malformaciones en los productos. En recién nacidos, la deficiencia de biotinidasa se ha relacionado con síndrome VACTERL y páncreas anular. Se presenta el caso de una lactante con deficiencia de biotinidasa y defecto congénito de anillo vascular que rodea y comprime tráquea y esófago, alterando la deglución y la respiración. La niña fue suplementada con biotina e intervenida, con excelentes resultados.
Biotinidase deficiency is an autosomal recessive metabolic disorder that affects the cleavage of biotin. Family studies of the index case found that both parents are usually carriers and siblings have the altered gene, but only homozygotes have manifestations that vary depending on the deficiency grade. Mothers may have moderate deficiency and be asymptomatic; biotin deficiency in pregnant women causes defects in children. In a study, using human cells exposed to biotin deficiency, cell growth decreased contributing to the development of cleft palate. In newborns, biotinidase deficiency has been associated with VACTERL syndrome and annular pancreas. The case of an infant with biotinidase deficiency and congenital defect of the vascular ring is presented. This defect surrounds and compresses the trachea and esophagus, disturbing swallowing and breathing. Infant was supplemented with biotin and surgically intervened with excellent results.
Asunto(s)
Femenino , Humanos , Lactante , Aorta Torácica/anomalías , Deficiencia de Biotinidasa/complicaciones , Arteria Subclavia/anomalías , EsófagoRESUMEN
Biotinidase deficiency is an autosomal recessive metabolic disorder that affects the cleavage of biotin. Family studies of the index case found that both parents are usually carriers and siblings have the altered gene, but only homozygotes have manifestations that vary depending on the deficiency grade. Mothers may have moderate deficiency and be asymptomatic; biotin deficiency in pregnant women causes defects in children. In a study, using human cells exposed to biotin deficiency, cell growth decreased contributing to the development of cleft palate. In newborns, biotinidase deficiency has been associated with VACTERL syndrome and annular pancreas. The case of an infant with biotinidase deficiency and congenital defect of the vascular ring is presented. This defect surrounds and compresses the trachea and esophagus, disturbing swallowing and breathing. Infant was supplemented with biotin and surgically intervened with excellent results.
Asunto(s)
Aorta Torácica/anomalías , Deficiencia de Biotinidasa/complicaciones , Arteria Subclavia/anomalías , Esófago , Femenino , Humanos , LactanteRESUMEN
Biotinidase deficiency is an autosomal recessive metabolic disorder that affects the cleavage of biotin. Family studies of the index case found that both parents are usually carriers and siblings have the altered gene, but only homozygotes have manifestations that vary depending on the deficiency grade. Mothers may have moderate deficiency and be asymptomatic; biotin deficiency in pregnant women causes defects in children. In a study, using human cells exposed to biotin deficiency, cell growth decreased contributing to the development of cleft palate. In newborns, biotinidase deficiency has been associated with VACTERL syndrome and annular pancreas. The case of an infant with biotinidase deficiency and congenital defect of the vascular ring is presented. This defect surrounds and compresses the trachea and esophagus, disturbing swallowing and breathing. Infant was supplemented with biotin and surgically intervened with excellent results.