Successful therapy of Niemann-Pick disease by implantation of human amniotic membrane.

In a patient with a lysosomal storage disorder, not involving the CNS, repeated implantations of human amniotic sheets have proved to provide a successful approach to enzyme replacement therapy. Implantation of pure epithelial cells, separated from the other cell types of the amnion, might markedly improve the procedure, avoiding some risks of host-versus-graft rejection.

Treatment of sphingomyelinase deficiency by repeated implantations of amniotic epithelial cells.

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.

Repeated rescue of a Broviac catheter: fixation of exposed cuff by a skin flap.

A cutaneous infection exposed the cuff of a Broviac catheter employed for home-TPN in a 3-month-old child with ultra-short bowel syndrome. In order to avoid removal of the catheter, sepsis was abated by antibiotic administration through its lumen, then the exposed cuff was covered and fixed by a skin flap. The advantages proceeding from this sort of "emergency rescue" of the Broviac catheter have been: (1) to avoid a new cutdown in a child already submitted to several attempts of cannulation with sacrifice of major vessels; (2) to resume home total parenteral nutrition (TPN) in a short time, being the patient strictly dependent upon his parenteral intake and to spare a well-functioning catheter. Ten months after the last cuff covering by skin flap, the catheter is safely fixed in place and currently employed for home TPN.

Feeding troubles following delayed primary repair of esophageal atresia.

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.

[Graft of cryopreserved human amniotic epithelial cells in a subject with type B Niemann-Pick disease]. / Impianto di cellule epiteliali amniotiche umane crioconservate in un soggetto affetto da malattia di Niemann-Pick tipo B.

Implantation of pure cryopreserved epithelial cells obtained by enzymatic digestion of human amnion was successfully carried out in one patient affected by Niemann-Pick disease type B. No host-versus-graft reaction was recorded after implantation. The clinical improvement observed in this patient is supposed to be effect of the documented increase of sphingomyelinase activity in his leukocytes after implantation, confirming the possibility that an effective release of sphingomyelinase from amniotic epithelial cells and enzyme uptake by deficient cells can occur. Separation and cryopreservation of human amnion epithelial cells markedly improve the procedures of implantation and may represent a further step beyond in the enzymatic therapy of many lysosomal storage disorders.

[The problem of caustic poisoning in children]. / Approccio al problema degli avvelenamenti da caustici nel bambino.

The exposure to caustic substances in childhood, being accidental in most cases, can cause doubts in the initial diagnostic therapeutic approach; the risk of missing lesions following caustic ingestion when symptoms are scarce or lacking is high. The paper provides an overview of the physiopathology and clinical presentation of caustic injuries and stress the possibility of burns of esophagus and/or stomach even without oropharyngeal symptoms and/or signs. The esophagogastroduodenoscopy has now an essential role in the evaluation of gastrointestinal tract injury, as a guide to the therapy and as a prognostic criterion. So it is possible to reduce the risk of poor outcomes by the appropriate treatment. Anyway the primary prevention against the exposition to caustic substances at home is fundamental and must be effected both through active and passive measures.

Gastric tube oesophagoplasty for oesophageal atresia: a follow-up study. Part I: Clinical controls.

From 1975 to 1981, 12 gastric tube oesophagoplasties were performed in our institute for long-gap oesophageal atresias. All cases of the series, but one, have been reconstructed by means of a distally based tube. The authors discuss the criteria of choice of gastric tube and describe all the results of a clinical follow-up conducted in 9 cases, two to eight years after successful surgery. Height and weight patterns, in particular, show a fully satisfactory growth for all gastric tube children.

Cow's milk intolerance and abdominal surgery: a puzzling connection.

We describe 9 infants (ranging from 1 to 6 1/2 months) in whom a surgical pathology (gastro-esophageal reflux and/or pyloric stenosis) was associated with cow's milk intolerance (CMI). In all cases vomiting and/or failure to thrive did not disappear after surgery. The patients recovered only after dietary manipulation by cow's milk protein free diet. In 5 out of 9 cases, multiple food intolerances were present (soy and/or casein hydrolysates). In all cases the diagnosis of CMI was confirmed by challenge test. The connections between CMI and abdominal surgery in infancy are discussed.

Gastric tube oesophagoplasty for oesophageal atresia: a follow-up study. Part II: Radiologic, endoscopic and histologic controls.

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.

Ectopic neuroblastoma of the thoracic wall: a case report.

A case of thoracic neuroblastoma arising at the anterior mammillary line from the inner surface of the second and third right rib in a 17-month-old male child is reported. Primary surgery allowed excision of the mass. According to the histologic, histochemical, and molecular features of the tumor, all consistent with the diagnosis of neuroblastoma stage 2, the patient underwent adjuvant chemotherapy and, after 2 years, he is alive and disease free at follow-up. In view of different clinical and therapeutical approaches, only a strict adherence to histopathologic criteria allows differentiation of neuroblastoma, even in a very unusual anatomical site, from other small-cell, peripheral neoplasms presumably arising from the embryonic neural crest, such as Askin's tumor, neuroepithelioma, and ectomesenchymoma. The site of origin of these tumors is an important diagnostic clue but can be misleading: only careful microscopic evaluation and molecular analysis lead to incontrovertible diagnosis and yield correct clinical management.