Orthotopic liver transplantation in a patient with carbamyl phosphate synthetase deficiency and cystic fibrosis

A 15-year-old female with carbamyl phosphate synthetase deficiency, cystic fibrosis, and cystic fibrosis-related diabetes underwent orthotopic cadaveric liver transplantation. Metabolic control was maintained during the procedure with nutritional support and the use of intravenous sodium phenylacetate and benzoate. Her postoperative course was complicated by seizures and a transient decline in her pulmonary function tests, which returned to preoperative levels within one year of the transplant. Now, four years post-transplant, her quality of life has dramatically improved. There are only four Canadian centres with paediatric liver transplantation programs. However, expert medical care for adults with inborn error of metabolism is even more limited, suggesting that access to adult medical care is one of the many factors to be considered when liver transplantation is contemplated for patients with metabolically unstable conditions.     

Obstructed/strangulated diaphragmatic hernia: A rare cause of acute intestinal obstruction in adults

Obstructed diaphragmatic hernia as a cause of intestinal obstruction in adults is very rare. Late presentation of congenital diaphragmatic hernia is reported to be 5 to 25 percent and its presentation as intestinal obstruction is reported, rarely. We report two adult patients with obstructed/strangulated congenital diaphragmatic hernias and one patient with obstructed traumatic diaphragmatic hernia as a rare cause of intestinal obstruction.     

Intramural Metastatic Squamous Cell Carcinoma of Stomach

Intramural metastasis to the stomach (IMMS) from carcinoma esophagus, excluding direct invasion and spread to the stomach, is relatively uncommon. Diagnosis of IMMS is based on histological criteria, and it is associated with poor prognosis (Takubo et al. Cancer 65:1816–1819, 1990]. We report two patients of SCC oesophagus in whom intramural metastasis to stomach has occurred.