1/307. Redo operations of Hirschsprung's disease.The purpose of this study was to specify the indications, applicability and final outcome of the redo definitive operations of Hirschsprung's disease. Between 1976-1993, 213 patients had undergone definitive operations of Hirschsprung's disease. In this series, 5 who required a redo pull-through operation were investigated. The redo pull-through operations were performed in 5 patients because of severe anastomotic stricture or total closure of the anastomotic site, recto-urethral fistula, anastomotic stricture, and enterocolitis due to anastomotic disruption. The initial definitive procedures were in 4 patients the Swenson operation and in one patient the Boley operation. As redo pull-through operations, the following were performed with success: in 3 patients, the Duhamel operation; and in 2 patients, the Swenson operation. The final outcome of the redo pull-through alterations were satisfactory and it can be suggested that one should not hesitate to perform a redo pull-through operation in selected Hirschsprung patients.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
2/307. A hirschsprung disease locus at 22q11?We report a boy with truncus arteriosus, dysmorphic features, developmental delay, passing hypotonia, short segment hirschsprung disease (HSCR), and paroxysmal hypoventilation. FISH analysis showed an interstitial deletion in chromosome band 22q11.2 coinciding with the deletions found in digeorge syndrome and velocardiofacial syndrome. mutation scanning of RET, GDNF, EDNRB, and EDN3, genes associated with hirschsprung disease, showed no aberrations. Since we know of two more patients with velocardiofacial syndrome and HSCR, we hypothesise that a gene responsible for proper development of the enteric nervous system may be included in the 22q11.2 region.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
3/307. A laparoscopic pull-through operation for Hirschsprung's disease: report of two infant cases.We describe herein a primary laparoscopic pull-through procedure that was successfully employed to treat two infants with Hirschsprung's disease. Mobilization of the rectum and sigmoid colon was performed laparoscopically, and the rectal mucosa was removed via a transanal submucosal resection. After inducing the rectal prolapse intussusceptically, the rectum was circumferentially transected, and the mobilized colon was pulled down through the rectal muscle cuff. Resection of the aganglionic bowel and the coloanal anastomosis, using the Soave-Denda method, was performed outside the anus. Both infants had an uneventful postoperative course with early recovery of bowel movement. Our experience demonstrates that this minimally invasive surgical procedure is feasible for young infants, and we believe that Hirschsprung's disease may be a definite indication for laparoscopic surgery.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
4/307. Repeat pull-through surgery for complicated Hirschsprung's disease: indications, techniques, and results.BACKGROUND: Most children with Hirschsprung's disease (HD) do well after a pull-through procedure. In the occasional child in which the operation fails, a repeat procedure may be necessary. methods: Nine children with HD aged 20 months to 9 years underwent repeat pull-through over a 4-year period. Original pull-throughs (six Soave, two Swenson, one Duhamel) were performed elsewhere 12 to 95 months earlier (median, 36 months). Indications for revision were stricture unresponsive to dilatation (n = 3) and acquired aganglionosis (n = 6). One of the latter had associated segmental intestinal neuronal dysplasia. One child with a stricture after a Swenson procedure underwent a repeat Swenson. The other eight underwent reconstruction using a Duhamel technique. Five had a defunctioning stoma before or at the time of repeat surgery. RESULTS: Median follow-up was 15 months (range, 4 to 40 months). Complications included wound infection (n = 2), anastomotic bleeding (n = 2), stoma leak (n = 1) or stenosis (n = 1), "kinking" at the top of the Duhamel (n = 1), and persistent septum (n = 1). Three patients have had a good outcome with normal stool patterns. One has intermittent soiling, and one has what is believed to be stool-holding behavior. Four have persistent obstructive symptoms caused by sphincter hypertonicity, which are being successfully managed nonoperatively. CONCLUSIONS: Repeat pull-through surgery can be performed safely in appropriately selected patients. Duhamel reconstruction usually is preferred for technical reasons, and a stoma is not always necessary. Outcome is generally favorable, but anal sphincter hypertonicity may cause persistent symptoms in some patients.- - - - - - - - - - ranking = 0.83333333333333keywords = disease (Clic here for more details about this article) |
5/307. Point nucleotidic changes in both the RET proto-oncogene and the endothelin-B receptor gene in a hirschsprung disease patient associated with down syndrome.A short-segment hirschsprung disease (HSCR) patient associated with 21 trisomy showing point nucleotidic changes in both the receptor tyrosine kinase (RET) proto-oncogene and the endothelin-B receptor (EDNRB) gene is reported. A T to A heterozygous transition at the splicing donor site of the intron 10 in the RET proto-oncogene, and a G to A heterozygous substitution in non-coding region in the exon 1 of the EDNRB gene were observed. The familial analysis with these genes revealed that the origin of the former mutation was de novo and the latter one was maternal. No patient has been reported with two points mutations in different pathogenetically susceptible loci for HSCR. There is genetic evidence that the RET and EDNRB genes may interact in their susceptibility leading to HSCR.- - - - - - - - - - ranking = 0.83333333333333keywords = disease (Clic here for more details about this article) |
6/307. A new observation of the Carney's triad with long follow-Up period and additional tumors.The etiology of the Carney's triad (gastrointestinal stromal tumors, pulmonary chondromas, and paragangliomas) is unknown, and only 57 cases have been reported since its identification in 1977. We report the clinical course of a female with the complete triad and some additional tumors. Bilateral vagal paragangliomas were treated surgically and with radiotherapy between the ages of 24 and 26 years. Subsequently she underwent surgery for a gastric leiomyosarcoma (27 years), a pleomorphic adenoma of the parotid gland (49 years) and a multifocal breast cancer with axillary spread (50 years). A calcified lesion was also noticed in the left lung, the radiologic diagnosis of which was consistent with chondroma. A mediastinal paraganglioma, detected at 56 years on a control X-ray of the chest, was partially excised at 63 years. At the last control, performed at 66 years, the patient was alive with residual cervical and mediastinal paraganglioma. Her younger brother was affected by Hirschsprung's disease and died at 54 years of rectal cancer. Her daughter is 33 and has been suffering since birth with severe constipation. In conclusion, this is one of the longest followed-up patients with Carney's triad. Her case illustrates the need for early recognition of the setting in order to detect the component tumors at a stage when surgery may be curative, and careful and life-long follow-up, both because the multicentricity of the classic components tends to manifest metachronously and because of the tendency to develop other tumors, some of which may be malignant. Furthermore, the presence of Hirschsprung's disease in the patient's family, coupled with the alleged common origin of two component lesions from derivatives of the neural crest, open new avenues for the understanding of this disorder.- - - - - - - - - - ranking = 0.33333333333333keywords = disease (Clic here for more details about this article) |
7/307. clostridium difficile colitis associated with infant botulism: near-fatal case analogous to Hirschsprung's enterocolitis.We present the first five reported cases of clostridium difficile-associated diarrhea (CDAD) in children with infant botulism caused by clostridium botulinum. We compare two fulminant cases of colitis in children with colonic stasis, the first caused by infant botulism and the second caused by Hirschsprung's disease. In both children, colitis was accompanied by hypovolemia, hypotension, profuse ascites, pulmonary effusion, restrictive pulmonary disease, and femoral-caval thrombosis. Laboratory findings included pronounced leukocytosis, hypoalbuminemia, hyponatremia, coagulopathy, and, when examined in the child with infant botulism, detection of C. difficile toxin in ascites. CDAD recurred in both children, even though difficile cytotoxin was undetectable in stool after prolonged initial therapy. Four children who had both infant botulism and milder CDAD also are described. Colonic stasis, whether acquired, as in infant botulism, or congenital, as in Hirschsprung's disease, may contribute to the susceptibility to and the severity of CDAD.- - - - - - - - - - ranking = 0.5keywords = disease (Clic here for more details about this article) |
8/307. Total colonic aganglionosis: diagnosis and management in a 12-year-old boy.Total colonic aganglionosis (TCA) is an unusual form of Hirschsprung's disease, and most of these present within the first few weeks and nearly all by the end of the first year of life. Very few cases presenting in older childhood or adulthood have been reported. Without a high index of suspicion these cases can easily be missed and, therefore, patients undergo repeated laparotomies for subacute intestinal obstruction without relief of symptoms. The diagnosis is suspected on operative findings and confirmed by histological evaluation of seromuscular biopsy specimens. Proper diagnosis will prevent loss of bowel length caused by inadvertent resection and will help in performing an optimal procedure to treat these patients. Discussed herein is another case of TCA in a 12-year-old boy with review of relevant literature.- - - - - - - - - - ranking = 0.16666666666667keywords = disease (Clic here for more details about this article) |
9/307. Jeune syndrome (asphyxiating thoracic dystrophy) associated with hirschsprung disease.We describe two children with diagnostic features of Jeune syndrome who also had hirschsprung disease. An association between the two conditions has not previously been described and has implications both for clinical management and for further study.- - - - - - - - - - ranking = 0.83333333333333keywords = disease (Clic here for more details about this article) |
10/307. Near total intestinal aganglionosis with extreme short-bowel syndrome--a difficult surgical dilemma.Forty cases of total or near-total intestinal agangliosis (NTIA) were described to date in the English literature. Most cases had a lethal outcome. We describe the 41st case--a Beduin male neonate--who had only 30 cm of proximal hypoganglionic jejunum. He is presently almost one-year-old and thriving on home TPN, receiving one quarter of his caloric requirements orally using pregestamil, an MCT formula. The initial intricate course, diagnosis and several operative procedures, are elaborated. A review of the scant literature is discussed. The elusiveness of the correct diagnosis is pointed out and means to overcome these errors are described. Various surgical procedures have been suggested, none of which offer the perfect solution to the severe basic problem of short bowel. Long-term parenteral hyperalimentation is still the main modality of treatment. Based on our modest experience, we suggest saving every possible length of jejunum, even if hypoganglionic, since this bowel, following a few weeks of adaptation, starts to function fairly well, suggesting perhaps some neuro-muscular maturation. The best surgical approach is still pending. We present a report of a child with this disease and discuss the therapeutic dilemma.- - - - - - - - - - ranking = 0.16666666666667keywords = disease (Clic here for more details about this article) |
| | Next -> |