No abstract

Five young patients with Niemann-Pick disease type B were treated with repeated implantations of amniotic epithelial cells, as a source of exogenous sphingomyelinase. This treatment abolished the recurrent infections, mainly of the respiratory tract, and led to other improvements of the general conditions of the patients. In particular, we noticed a disappearance of vomiting, a recovery from muscular hypotrophy, and significantly reduced pulmonary distress. In four subjects, who were in a prepuberal state, there was a puberal spurt with a concomitant burst of growth. In two cases, characterized by a greater than normal content of sphingomyelin in urinary sediments, a single implantation caused a sustained normalization of sphingomyelin and total phospholipids in the urine. Finally, sphingomyelinase activity of peripheral leukocytes, when assayed 0.5 to 4 months after some of the implantations, showed a rise to heterozygous values in 30-40% of the assays.

Severe feeding troubles were recorded in five babies with long-gap esophageal atresia who underwent, between 1985 and 1990, a delayed primary anastomosis after spontaneous growth of their esophageal stumps. A comparison with 20 cases of direct esophageal anastomosis, operated on in the same period, was carried out by means of recorded esophagrams, pH monitoring and questionnaires charting the growth pattern and feeding habits of the patients. Bottle feeding, and, later on, the introduction of semi-solid foods was significantly retarded in the group of children with delayed primary anastomosis (labeled as group B) as well as height and weight parameters. Failure to complete feeds, dysphagia, vomiting, coughing, choking and recurrent respiratory symptoms were also significantly more common in this group than in the primary anastomosis group (labeled as group A) even in the absence of stricture. Variable degrees of disordered esophageal motility were present in all patients but pooling of the contrast medium, retrograde flow and delayed clearing of the esophagus were more frequent in group B. No patient was shown to have associated hiatal hernia. A 24 hour pH recording showed severe gastroesophageal reflux in 4 out of 13 cases of group A and in 3 out of 5 cases of group B. Clearing times were significantly delayed in all refluxing children. Our data suggest that the retarded start of oral feeding and swallowing coordination in patients with delayed primary anastomosis add further negative factors to their congenitally impaired esophageal motility, causing protracted dysphagia which represents a major problem for both family and hospital staff.

In 1982 a programme of multi-disciplinary follow-up on 12 patients that underwent a gastric tube oesophagoplasty for long-gap oesophageal atresia was started. Radiological examination, performed on all gastric tubes but one (died a few days after surgery), assessed the morphology and dynamics of gastric tube, either distally or proximally based, and stomach 2 to 8 years after surgery. Endoscopic backward exploration was performed on 7 cases, to allow a closer analysis of stomach, gastric tube mucosa and upper oesophageal stump, demonstrating that the gastric transplant is viable and almost undamaged. No evidence of oesophagitis of the proximal stump was found. Histological stainings on biopsy specimens and on sections from one post-mortem examination, showed a mild degree of dystrophy in gastric tube mucosa, progressively shading into proper gastric mucosa. No evidence of a progressive change for the worse was found in any of the 7 tubes controlled.