11/350. 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. ( info) |
| Timely passage of the first stool is a hallmark of the well-being of the newborn infant. Failure of a full-term newborn to pass meconium in the first 24 hours may signal intestinal obstruction. Lower intestinal obstruction may be associated with disorders such as Hirschsprung's disease, anorectal malformations, meconium plug syndrome, small left colon syndrome, hypoganglionosis, neuronal intestinal dysplasia and megacystis-microcolon-intestinal hypoperistalsis syndrome. Radiologic studies are usually required to make the diagnosis. In addition, specific tests such as pelvic magnetic resonance imaging, anorectal manometry and rectal biopsy are helpful in the evaluation of newborns with failure to pass meconium. ( info) |
13/350. Near-total intestinal aganglionosis in the Waardenburg-Shah syndrome. Both pigmentation and otic defects of waardenburg syndrome and Hirschsprung's disease have a common origin in neural crest cells and were described in 1951 and 1887, respectively. The clinical manifestations of both in the same patient were described in 1981 in 12 infants so afflicted. The authors present such a case of long segment aganglionosis in a 15-day-old Marshallese girl with Waardenburg-Shah syndrome and discuss diagnosis, treatment, and prognosis. ( info) |
14/350. Imperforate anus, Hirschsprung's disease, and trisomy 21: a rare combination. Three well known pediatric problems, Hirschsprung's disease, anorectal anomaly, and trisomy 21, are presented in the same patient. The authors describe the problems encountered in making the final diagnosis and suggest management options when faced with this unusual situation. ( info) |
15/350. Ondine's curse and Hirschsprung's disease: neurocristopathic syndrome. We report a female newborn with Ondine's curse and Hirschsprung's disease--neurocristopathic syndrome. The female infant required endotracheal intubation and mechanical ventilation due to apnea which developed soon after birth. She had abdominal distension with bilious vomiting. A barium enema revealed a caliber change at the rectum and rectal biopsies showed no ganglion cells. colostomy was performed at the age of 17 days. Hypoxemia with hypercapnia was noted during her sleep, and tracheostomy was performed at the age of 55 days. In addition, deafness and pupillary autonomic dysfunction were observed. The definitive surgery for Hirschsprung's disease was performed at the age of 4 months. She is now 2 years old with normal growth but needs ventilator support at home. In this case, we detected no mutation in the RET gene and EDNRB gene. ( info) |
16/350. Aganglionosis of the small intestine: a rare form of Hirschsprung's disease. Absence of ganglion cells in the small intestine, a rare form of Hirschsprung's disease, is a condition found in newborns and associated with increased morbidity and mortality. Families are faced with numerous challenges, including maintenance of nutrition, the need for surgical interventions, and the potential for complications associated with the medical technologies necessary to maintain children with aganglionosis. Home care needs are not unlike those of other children with severe intestinal dysfunction such as short bowel syndrome. This article gives an overview of Hirschsprung's disease and presents three case studies of small bowel Hirschsprung's. One center's experience with Hirschsprung's disease supports the need for a multidisciplinary approach to long-term management and home care. ( info) |
17/350. An ileostomy at the aganglionic ileum for total colon aganglionosis. For the initial management of total colon aganglionosis (TCA), an ileostomy is usually created at the distal end of the ganglionic bowel, which is associated with profuse diarrhea resulting in a water and electrolyte imbalance as well as malnutrition during the ileostomy period. An ileostomy at the aganglionic ileum several centimeters toward the anal side of the transition for TCA is thus expected to cause bowel retention without any bowel obstruction and to facilitate water reabsorption in the small bowel. We performed this procedure in 2 babies with TCA. The length of the aganglionic ileum was 50 cm and 10 cm, respectively. The ileostomies were made 5 cm distal to the transition at 1 month and 1 day after birth, respectively. Oral feedings were well tolerated, resulting in adequate weight gain and the stools were semisolid during the ileostomy periods. Definitive operations using the Duhamel procedure with a right colon patch graft without the creation of a new ileostomy were successfully performed at 7 and 3 months of age, respectively. The postoperative courses were satisfactory. An ileostomy at the aganglionic ileum appears to be the method of choice as initial management for patients with TCA. ( info) |
18/350. Hypoganglionic megacolon associated Chiliaditi's syndrome treated by subtotal colectomy: a case report. In 1910, Chiliaditi described hepatodiaphragmatic interposition of the colon (Chiliaditi's syndrome). The condition is easily recognised on an antero-posterial chest radiograph. The interposed segment of bowel is usually the hepatic flexure of the colon. The degree of interposition varies from simple wedging to complete occupation of the right subdiaphragmatic space. The management is usually conservative and surgical intervention is rarely indicated. We present a patient with hepatodiaphragmatic interposition of the colon, associated with megacolon, requiring subtotal colectomy and ileosigmoid anastomosis for severe chronic constipation. ( info) |
19/350. Unilateral proximal femoral focal deficiency and hirschsprung disease. A male with unilateral proximal femoral focal deficiency and hirschsprung disease is described. ( info) |
20/350. Sigmoid volvulus in children and adolescents. BACKGROUND: Sigmoid volvulus is an exceptionally rare and potentially life-threatening condition in the pediatric age group. STUDY DESIGN: We report our experience with three children treated for sigmoid volvulus and review the cases reported in the medical literature since 1940. RESULTS: Since 1940, 63 cases of sigmoid volvulus in children (including this series) have been reported. The median age was 7 years and the male to female ratio was 3.5:1. Two distinct presentations (acute and recurrent) were identified. Abdominal symptoms dominated the clinical picture. barium enemas either confirmed or were highly suggestive of sigmoid volvulus. Reduction by barium enema was successful in 77% (10 of 13) of the attempts. Forty-nine patients underwent operative treatment, with sigmoidectomy (with or without primary anastomosis) being the most common. The overall mortality rate was 6%, operative mortality was 8.1%, and neonatal mortality was 14%. Associated conditions were frequent. Particular emphasis should be placed on ruling out Hirschsprung's disease (present in 11 of 63 patients). CONCLUSIONS: Sigmoid volvulus remains a rare occurrence in children, but it should be included in the differential diagnosis of pain in children when colonic distention is present. An algorithm for treatment is proposed. ( info) |