Multidetector Computed Tomography Findings of Acute Abdominal Intussusception Due to Peutz–Jeghers Syndrome

Abstract

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inheritance characterized by intestinal hamartomatous polyps and hyperpigmented mucocutaneous macules. Bleeding, bowel obstruction, and intussusception are the most common complications in PJS patients. Individuals are infrequently present for the first time with bowel obstruction secondary to intussusception. Intestinal intussusception presentation is often observed clearly on multidetector computed tomography (MDCT) with characteristic findings, such as "target" and "pseudo-kidney" signs, and sometimes shows the cause of lead-point polyp. A complemental examination is needed to attain more diagnostic symptoms of this disorder, including pigmented spots on the oral cavity and lips, family history with multiple gastrointestinal polyps. Here, we report a case of a 17year-old male who showed traits of Peutz-Jeghers syndrome. However, the diagnosis was not made until he later developed bowel obstruction caused by an ileo-ileal intussusception manifestation on MDCT and eventually proved in typical hamartoma on postoperative histopathology.

Reporte de caso: Invaginación intestinal mayor complicación en el Síndrome de Peutz-Jeghers en el paciente pediátrico

“…A nuestra paciente se le realizó el diagnóstico de SPJ al llegar con esta complicación. No hay datos contundentes que nos indique la edad en que pueda aparecer la invaginación intestinal, a la edad de 20 años el riesgo puede ser de un 50% [10], sin embargo, el caso más joven reportado fue de una menor de 3 años [11].…”

“…Chen y col. en un estudio de 336 casos determinaron que los pacientes con SPJ tienen un riesgo elevado de cáncer colorrectal sin diferencias en el sexo, así como alto riesgo en las mujeres de cáncer de cérvix uterino [14]. En pacientes pediátricos el cáncer es extremadamente raro, por esto las últimas recomendaciones en estos pacientes solo es vigilancia rutinaria para detectar características de tumores del cordón sexual [11].…”

Development and Validation of a Nomogram for Predicting Pathological Intussusceptions in Children Prior to Surgical Intervention

“…In general, most intussusceptions can be categorized as primary or idiopathic, with thickened bowel wall lymphoid tissue (Peyer patches) acting as the lead point. Approximately 5–12% of intussusceptions are pathological, which usually present with different symptoms and are caused by conditions such as Meckel’s diverticula ( 4 ), intestinal polyps ( 5 , 6 ), intestinal duplication ( 7 ), allergic purpura ( 8 ) and some rare digestive tract malignant tumors ( 9 , 10 ).…”