Vutukuru Sravanthi, Solanki Shailesh, Menon Prema, Samujh Ram, Lal Sadhna B
Department of Pediatric Surgery, PGIMER, Chandigarh, India.
Department of Gastroenterology, PGIMER, Chandigarh, India.
J Indian Assoc Pediatr Surg. 2022 Mar-Apr;27(2):248-250. doi: 10.4103/jiaps.JIAPS_300_20. Epub 2022 Mar 1.
PeutzJegher's syndrome (PJS) is a rare, autosomal dominant disease, characterized by gastrointestinal (GI) polyps and perioral hyperpigmentation along with the increased risk of certain malignancies. In children, the most common presentation is recurrent intussusception due to polyps. These polyps can involve any part of the GI tract and can present with a variety of clinical presentations. Usually, these polyps can be removed endoscopically but often require surgical excision also. In this report, we discuss two children of PJS with uncommon presentations, one presented with retrograde intussusception and another with gastric outlet obstruction. The first child underwent laparoscopy and another required open surgery with intraoperative enteroscopy.
佩-杰二氏综合征（PJS）是一种罕见的常染色体显性疾病，其特征为胃肠道（GI）息肉、口周色素沉着，以及某些恶性肿瘤的发病风险增加。在儿童中，最常见的表现是因息肉导致的反复肠套叠。这些息肉可累及胃肠道的任何部位，并可呈现出多种临床表现。通常，这些息肉可通过内镜切除，但往往也需要手术切除。在本报告中，我们讨论了两名患有不常见表现的PJS患儿，一名表现为逆行性肠套叠，另一名表现为胃出口梗阻。第一名患儿接受了腹腔镜检查，另一名则需要在术中进行肠镜检查的开放手术。
