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Juvenile polyposis (JP) and hereditary hemorrhagic telangiectasia (HHT) are clinically distinct diseases caused by mutations in SMAD4 and BMPR1A (for JP) and endoglin and ALK1 (for HHT). Recently, a combined syndrome of JP-HHT was described that is also caused by mutations in SMAD4. Although both JP and JP-HHT are caused by SMAD4 mutations, a possible genotype:phenotype correlation was noted as all of the SMAD4 mutations in the JP-HHT patients were clustered in the COOH-terminal MH2 domain of the protein. If valid, this correlation would provide a molecular explanation for the phenotypic differences, as well as a pre-symptomatic diagnostic test to distinguish patients at risk for the overlapping but different clinical features of the disorders. In this study, we collected 19 new JP-HHT patients from which we identified 15 additional SMAD4 mutations. We also reviewed the literature for other reports of JP patients with HHT symptoms with confirmed SMAD4 mutations. Our combined results show that although the SMAD4 mutations in JP-HHT patients do show a tendency to cluster in the MH2 domain, mutations in other parts of the gene also cause the combined syndrome. Thus, any mutation in SMAD4 can cause JP-HHT. Any JP patient with a SMAD4 mutation is, therefore, at risk for the visceral manifestations of HHT and any HHT patient with SMAD4 mutation is at risk for early onset gastrointestinal cancer. In conclusion, a patient who tests positive for any SMAD4 mutation must be considered at risk for the combined syndrome of JP-HHT and monitored accordingly.

Children with gastroesophageal reflux disease (GERD) often have associated feeding difficulties that warrant the insertion of a feeding gastrostomy at the time of the antireflux procedure. Options for gastrostomy tube insertion at the time of laparoscopic Nissen fundoplication (LNF) include laparoscopic gastrostomy, percutaneous endoscopic gastrostomy (PEG), and classic open gastrostomy. The complication rate of PEG may be decreased if it is placed under laparoscopic supervision. The purpose of this paper is to describe our experience with laparoscopically supervised PEG tube placement at the time of antireflux procedure.A retrospective chart review was conducted on all children undergoing a PEG tube placement at the time of the LNF. Perioperative complications were recorded.Forty-four patients had attempted PEG tube placement at the time of the LNF. In 3 (7%) cases, laparoscopic supervision was crucial in the prevention of a complication. No major PEG-related complications were recorded. In 43% of patients, minor PEG tube problems arose in the postoperative period: all were transient and/or easily correctable. Management of all these problems was in an outpatient setting. Follow-up ranged from 11 to 41 months.PEG tube placement at the time of a LNF is safe and effective. A combined laparoscopic and endoscopic approach minimizes complications. This method also allows for an intra- and extraluminal evaluation of the fundoplication at its completion.