Thirty-two-month-old with multiple duodenal webs diagnosed after failed gastrojejunostomy exchange successfully treated with combination endoscopic therapy.

Intestinal webs are either congenital or acquired. There are few reported cases of either chemotherapy or nonsteroidal anti-inflammatory medications leading to acquired intestinal webs in adults. There are limited descriptions of endoscopic interventions used for therapy of numerous duodenal webs in pediatrics.

A Bi-Institutional Study of Gastrointestinal and Hepatic Manifestations in Children With Hamartoma Tumor Syndrome.

Background And Aims: hamartoma tumor syndrome (PHTS) confers a high risk of specific cancers and is the most common genetic cause of autism spectrum disorder (ASD). Gastrointestinal (GI) phenotypes in PHTS are poorly characterized in children. Thus, we aimed to characterize the GI and hepatic manifestations in children with PHTS and to investigate genotype-phenotype associations.

Hereditary haemorrhagic telangiectasia and SMAD4 mutation in a patient with complex single ventricle heart disease.

We report a case of hypoplastic left heart syndrome and with subsequent aortopathy and then found to have hereditary haemorrhagic telangiectasia/juvenile polyposis syndrome due to a germline SMAD4 pathologic variant. The patient's staged palliation was complicated by the development of neoaortic aneurysms, arteriovenous malformations, and gastrointestinal bleeding thought to be secondary to Fontan circulation, but workup revealed a SMAD4 variant consistent with hereditary haemorrhagic telangiectasia/juvenile polyposis syndrome. This case underscores the importance of genetic modifiers in CHD, especially those with Fontan physiology.