RESUMO
Resumen La enfermedad inflamatoria intestinal de inicio muy temprano (VEOIBD) es una entidad rara en pediatría. Es conocida su asociación con inmunodeficiencias prima rias de origen monogénico. Presentamos el caso de una paciente con diagnóstico de VEOIBD a quien se le realizó una secuenciación masiva del exoma. El resultado del estudio permitió identificar una variante patogénica en el proto oncogen RET, asociada con enfermedad neoplasia endocrina múltiple tipo 2A. No hay reportes de asociación de variantes en el proto oncogen RET con VEOIBD. No se puede adjudicar la presencia de estas dos entidades clínicas a una única causa genética.
Abstract Very early onset inflammatory bowel disease (VEOI BD) is a rare entity in pediatrics. Its association with pri mary immunodeficiencies of monogenic origin is known. We present the case of a patient diagnosed with VEOIBD who underwent massive paralleled exome sequencing. The result of the study showed a pathogenic variant in the RET proto-oncogene, associated with multiple endo crine neoplasia type 2A disease. There are no previous reports of association of RET proto-oncogene variants with VEOIBD. The presence of these two clinical entities cannot be attributed to a single genetic cause.
RESUMO
Very early onset inflammatory bowel disease (VEOIBD) is a rare entity in pediatrics. Its association with primary immunodeficiencies of monogenic origin is known. We present the case of a patient diagnosed with VEOIBD who underwent massive paralleled exome sequencing. The result of the study showed a pathogenic variant in the RET proto-oncogene, associated with multiple endocrine neoplasia type 2A disease. There are no previous reports of association of RET proto-oncogene variants with VEOIBD. The presence of these two clinical entities cannot be attributed to a single genetic cause.
La enfermedad inflamatoria intestinal de inicio muy temprano (VEOIBD) es una entidad rara en pediatría. Es conocida su asociación con inmunodeficiencias primarias de origen monogénico. Presentamos el caso de una paciente con diagnóstico de VEOIBD a quien se le realizó una secuenciación masiva del exoma. El resultado del estudio permitió identificar una variante patogénica en el proto oncogen RET, asociada con enfermedad neoplasia endocrina múltiple tipo 2A. No hay reportes de asociación de variantes en el proto oncogen RET con VEOIBD. No se puede adjudicar la presencia de estas dos entidades clínicas a una única causa genética.
Assuntos
Doenças Inflamatórias Intestinais , Proto-Oncogene Mas , Proteínas Proto-Oncogênicas c-ret , Feminino , Humanos , Idade de Início , Sequenciamento do Exoma , Doenças Inflamatórias Intestinais/complicações , Doenças Inflamatórias Intestinais/genética , Neoplasia Endócrina Múltipla Tipo 2a/genética , Mutação , Proteínas Proto-Oncogênicas c-ret/genética , LactenteRESUMO
Superior mesenteric artery syndrome is an uncommon cause of upper gastrointestinal tract obstruction. The syndrome results from compression of the third portion of duodenum as it crosses underneath the superior mesenteric artery, related to conditions that reduce the aortomesenteric angle (acute weight loss) or after scoliosis surgery. Patients may present symptoms of gastrointestinal obstruction, such as upper abdominal distension and epigastric tenderness, usually relieved by posture changing. Diagnose must be complemented with an upper gastrointestinal barium-contrast radiography. Conservative treatment is usually effective with early diagnosis. Surgery is needed when conservative measures are ineffective. We present the case of a 18 year-old patient with Wilkie's syndrome secondary to scoliosis surgery. The patient presented symptoms of gastrointestinal obstruction, and diagnosis was confirmed with upper gastrointestinal barium-contrast radiography. The patient started conservative treatment with proper positioning after eating and nutritional support to provide optimal calories supply.