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Synovial lipomatosis is a rare, synovial based disorder that typically affects a single knee. Magnetic resonance imaging and synovial biopsy established this diagnosis in a patient who presented with a 20 year history of painless swelling of the knees, wrists, and hands. Such extensive involvement, particularly of hand joints and tendon sheaths, has not been described previously. Superimposed on this chronic soft tissue joint swelling were acute knee effusions, which responded to intraarticular steroid injections. The co-occurrence with congenital short bowel syndrome may have etiological implications for this disorder of inappropriate fat deposition.

Background/purpose: Intestinal neuronal dysplasia (IND) is a complex alteration of the enteric nervous system (ENS) that may involve rectum, colon, or the whole intestine. This disorder is a frequent cause of intestinal dysmotility and pseudo-obstruction in the first 3 years of life. The aim of this study was to identify possible associations and correlations of IND with other gastrointestinal and nongastrointestinal anomalies., Methods: From 1986 to 2000, 95 cases of IND type B without aganglionosis were diagnosed. Fifteen cases were diffuse IND, whereas the remaining 80 were rectocolonic neuronal dysplasia. The diagnosis was performed on rectal suction biopsy specimens taken 2 to 10 cm above the pectinate line. Acetylcholinesterase (AChE), lactic dehydrogenase (LDH), and NADPH-diaphorase (NADPH-d) histochemical techniques were performed on serial cryostatic sections. We used Schärli and Meier-Ruge criteria (1981) for the diagnosis of IND until 1992, when we adopted Borchard et al criteria (1991). A retrospective analysis of the clinical data was performed to identify IND-associated anomalies., Results: These anomalies included anorectal malformations (9 cases), intestinal malrotation (8), megacystis (5), congenital short small bowel (4), hypertrophic pyloric stenosis (3), necrotizing enterocolitis (2), mental retardation (2), short stature (2), facial dysmorphism (2), Down syndrome (1), intestinal atresia (1), diffuse intestinal angiomatosis (1), histiocytosis (1), microvillus agenesia (1), and hearing loss (1). Overall, 43 associated anomalies were found in 29 IND cases (30.5%). Gastrointestinal anomalies accounted for 67.4% (29 of 43 anomalies) of associated disorders. The incidence of associated anomalies was higher in diffuse IND (80% of cases, 12 of 15) than in rectocolonic forms (21.2%, 17 of 80)., Conclusions: Unlike Hirschsprung's disease, which is determined genetically, IND pathogenesis is unknown. The analysis of associated anomalies in IND population is an important clinical approach to investigate possible pathogenetic correlations. Two recessive syndromes were identified (3 families). The first was characterized by IND, intestinal malrotation, and congenital short bowel, the second by IND, short stature, mental retardation, and facial dysmorphism. In this study, gastrointestinal anomalies accounted for 67.4% of all associated disorders. These data suggest a strong correlation between IND and intestinal development. Abnormalities of the fetal ENS could determine the IND phenotype, which is likely to contribute to the pathogenesis of different intestinal malformations and in particular of anorectal and "rotation" anomalies.

Newborns with congenital short small bowel associated with malrotation and intestinal dysmotility have a uniformly bad prognosis. However, few long-term survivors have been reported, suggesting that the disorder is not invariably fatal. The majority of cases previously reported were familial. We report on six affected siblings in three related families. The aim of this report is to assess the mode of inheritance, the expression of this disorder, and to point to the correlation between the onset of gastrointestinal symptoms and the outcome.

According to recent studies, the percentage of neonates suffering a combination of very low birth weight (VLBW) and intestinal malformation or diseases that require surgery has increased. As opposed to mature newborn, split stoma is the therapy of choice in VLBW infants. These neonates and patients with other causes for a congenital or acquired short-bowel syndrome usually require parenteral nutrition and have a high risk of a cholestasis. Until 1993, stoma patients were treated with a special diet in our department, but depending of the stoma site often required parenteral nutrition, while the non-used distal bowel was irrigated with an isotonic electrolyte solution. With this regime, up to 38.5% of the treated patients (10126) were found to have a hyperbilirubinemia (> 3 mg/dl) after the 21st day of life. 1994, we started to use a device that continuously transfers the intestinal chylus from the proximal into the aboral bowel via a pump like a continuous extracorporeal stool transport (CEST). In this study, we evaluated the risk of cholestasis by comparison of the prospectively investigated group (CEST-group 1994-1998) of 33 infants with the results of the retrospectively studied group of 26 patients operated on between 1987 and 1993. We found a significantly lower risk of cholestasis in the CEST-Group (12.9% versus 38.5%; p<0.04). Only 3% of our patients with CEST (one patient) required permanent parenteral nutrition, compared to 50% of the conventionally treated patients.

Congenital short bowel with functional intestinal obstruction and absence of appendix vermiformis is a very rare condition with poor prognosis. Seventeen cases of congenital short bowel have been reported previously in the literature. The etiology is unknown. In this report, a case of congenital short bowel, combined with functional intestinal obstruction, mal-rotation, and absence of the appendix vermiformis, is presented and the pathogenesis discussed.

The sonographic findings in a fatal case of congenital short-bowel syndrome are reported. Sonography at 11 weeks of gestation showed a 11 x 6 mm hyperechoic mass interpreted to be a midgut umbilical hernia. A repeat scan 2 weeks later showed an intact anterior abdominal wall, no umbilical herniation, and appropriate fetal growth. Forty-eight hours after full-term, vaginal delivery, the infant began vomiting bile and passing blood rectally. Imaging studies showed distended bowel loops without air-fluid levels and incomplete bowel obstruction. Laparotomy showed malrotation and short small bowel without volvulus. The infant died at 9 weeks of age. When delayed return of the midgut to the abdominal cavity is noted on prenatal sonograms, follow-up sonograms should be done throughout the second trimester, especially in patients with a family history of short-bowel syndrome, to search for dilated short bowel loops. If such loops are found, patients should be given options for pregnancy termination.

Background: The aim of this study was to assess the impact of an amino acid-based complete infant formula on enteral feeding tolerance and parenteral nutrition requirement in children with severe short bowel syndrome., Methods: Four children (23 months-4.75 years) with short bowel syndrome who required long-term parenteral nutrition due to persistent feeding intolerance while receiving an extensively hydrolyzed formula were assessed before and after the commencement of an amino acid-based complete infant formula for a mean follow-up period of 48 months (range 39-51 months). Assessment included clinical monitoring of feeding tolerance and nutritional status, biochemistry, stool analysis, skin-prick testing to common food antigens, esophagogastroduodenoscopy and colonoscopy or jejunoscopy with biopsies, and measurement of disaccharidase levels and intestinal permeability., Results: All patients ceased parenteral nutrition within 15 months as a result of decreased stool output and resolution of vomiting. Patients had a reduction in hospitalization (mean: 198 versus 98 days/patient/year), episodes of proven (mean: 4.3 versus 3.3/patient/year) and suspected (mean: 6.5 versus 4.0/ patient/year) bacterial sepsis and central line insertions (mean: 2.5 versus 1.5/patient/year). Intestinal permeability to lactulose fell markedly (mean: 69% versus 2.7%). Disaccharidase levels increased in all three patients undergoing repeat studies., Conclusions: An amino acid-based complete infant formula improved feeding tolerance and eliminated the need for parenteral nutrition in four children with short bowel syndrome who had previously required long-term parenteral nutrition. The clinical improvement was mirrored by improvement in measurements of intestinal function.

A case of congenital short bowel syndrome with left acheiria, hemivertebra and dextrocardia is described. Dilatation of the fetal bowel was observed at the 24th week of gestation during a routine ultrasonic scan of a healthy 23-year-old primigravida from a non-consanguineous marriage. Amniocentesis and chorionic villus sampling were denied. The baby was delivered at 38 weeks of gestational age. After delivery, multiple anomalies were noted: left acheiria, congenital short bowel syndrome (15 cm in length of the ileum), pseudo-obstruction of intestine, dextrocardia, and hemivertebrae. We suspected these abnormalities might be due to a vascular accident or failure of lateralization during the early gestational period. To our knowledge, these combinations have not been reported previously in English literature.

Objective: The normal adult human small intestinal length, measured surgically or at autopsy from the duodeno-jejunal flexure, ranges from 275 to 850 cm. The length is generally shorter in women than in men. Patients with a short bowel have often had relatively little bowel resected and the majority of patients are women. We aimed to determine whether patients with a short bowel had a short small intestinal length before any resections., Patients and Methods: In 11 patients (six men and five women) with Crohn's disease and less than 200 cm residual small intestine, both the residual length of small intestine and the amount resected were measured., Results: Patients had a median of four resections (range 1-5). The median length of small bowel resected was 120 cm (range 60-165 cm) and the medium length of small bowel remaining was 125 cm (range 90-185 cm). Thus, the calculated median original small intestinal length was 240 cm (range 205-315 cm)., Conclusion: Although there may have been some bowel shortening as a result of Crohn's disease, the original small intestinal length before any resections was short. It is therefore more important, after performing a bowel resection, to measure the remaining than the resected bowel length. Patients with Crohn's disease and a short bowel may have had a short but 'normal' small intestinal length before any bowel was resected.

The improving survival of patients with severe short-bowel syndrome along with the advent of successful intestinal transplantation have accentuated the need to answer two questions. (1) Is there an intestinal length below which adaptation to full enteral nutrition can not be expected to occur? (2) How much time is necessary to complete intestinal adaptation? We reviewed the outcome of 21 infants with less than 50 cm of small intestine to answer these questions. Patients were divided into three groups based on intestinal length, regardless of ileocecal valve status: group I, < 10 cm (n = 3); group II, 10 to 30 cm (n = 11); and group III, 30 to 50 cm (n = 7). Data were collected to assess survival, incidence of adaptation, time to adaptation, and causes of mortality. Infants in group I did not achieve intestinal adaptation to full enteral nutrition. One survived and 2 died, one from varicella pneumonia and the other after intestinal transplantation. Eight of the 11 (73%) patients in group II survived and 5 of 8 (63%) survivors achieved full intestinal adaptation after a mean interval of 320 days (range, 148 to 506 days) on parenteral nutrition. Six of the seven patients (86%) in group III survived and all survivors (100%) achieved complete enteral adaptation after an average of 376 days (range, 58 to 727 days). The overall survival was 71% (15/21), but survival in patients with > 10 cm was 78%.(ABSTRACT TRUNCATED AT 250 WORDS)

Congenital short bowel is a rare anomaly. Among the 21 cases reviewed in the literature, only four (19%) survived beyond infancy. We present a female infant with short small bowel, malrotation and floating colon, who was successfully treated with home central parenteral nutrition. Improved long-term survival in this group of patients is expected with prolonged parenteral nutritional support.

Our report concerns a child with short bowel syndrome who had 20 cm of small intestine distal to the pylorus (duodenum and jejunum) which remained after subtotal intestinal resection; the resection was necessitated by intrauterine volvulus with intestinal necrosis as a result of gastroschisis. In addition, only 25 cm of the colon remained. Despite continuous enteral nutrition with a semi-elementary diet and conservative therapy, it was not possible to provide within six months at least occasionally half of the caloric intake required on an enteral basis. In such cases treatment is usually discontinued. As final alternative to a small intestine transplantation, we conducted an operation to lengthen the intestine (method according to Bianchi) when the patient was 8 months old. The massively dilatated jejunum section of the intestine was lengthened from 20 cm to 37 cm. Postoperatively enteral caloric intake could be increased from 11 kJ/kg/m to 20 kJ/kg/m. Unfortunately, at 14 months of age, the child died from hepatobiliary complications arising from aggravation of the cholestasis and acidosis. This case shows, nevertheless, that intestinal lengthening had a positive influence on intestinal resorption.

Report about a rare complication of gastroschisis by early volvalus. Following this occasionally the prenatal diagnosis there was a very ultrasonogram of a mostly solid tumour before the abdominal wall. The postpartal operative therapy with resection and later doubling according to Bianchi B described.

A 5-year-old boy with short-bowel syndrome who receives home parenteral nutrition developed a calcified thrombus that involved the inferior vena cava (IVC) and the right atrium. Symptoms included 3 to 4 months of intermittent fever and 2 months of vague chest pain. Blood could not be aspirated from the IVC catheter and an IVC contrast study demonstrated the calcified thrombus. The intracardiac portion of the mass was removed surgically, but the IVC mass could not be completely excised. The boy developed a pericardial effusion 6 weeks after surgery. He was treated for this and 6 months after the initial surgery the patient was asymptomatic.

The combination of short-bowel syndrome and liver failure in infancy is inevitably fatal. We describe the details of a technique for simultaneous implantation of both the bowel and the liver that leaves the native bowel undisturbed and avoids entering the gastrointestinal tract. The conceptual basis on which this procedure was performed in two infants is presented.

Since 1969, reports of 16 patients presenting with the congenital short bowel and malrotation syndrome have been published. The prognosis of this malformation is poor; only two patients survived. We present the history of a third patient, successfully treated with long-term survival.

A familial syndrome of congenital short small bowel, malrotation, and functional bowel obstruction is presented and illustrated in three male siblings with one long-term survivor. Including the present three cases there have been 18 similar cases found in the literature. This disorder appears to be a sex-linked recessive inheritance. Early barium meal and follow through in siblings of patients with this condition will detect malrotation that should be surgically corrected in order to prevent mid-gut volvulus. Intravenous alimentation and early introduction of enteral feeding is important, not only to maintain nutrition but to encourage adaptation of the associated short and dysmotile bowel. These measures aim to improve the outcome of this frequently, but not invariably, fatal disorder.

A 1-day-old male infant with congenital short small bowel was transferred to our hospital because of bilious vomiting and abdominal distension. An exploratory laparotomy performed at the age of 8 days revealed malrotation without any volvulus or stenosis of the small intestine, which was 45 cm long. There were no other anomalies except absence of the appendix. Postoperative nutritional support was by intravenous hyperalimentation and administration of elemental diet. However, parenteral nutrition was discontinued because of hyperbilirubinaemia. The patient died from marked emaciation at 2 months of age despite the administration of elemental diet. Therefore, careful total parenteral nutrition is the only management for successful therapy until the child's intestinal absorptive function develops.

Two consecutive short gut babies with a residual small intestinal length of 44 and 46 cm, respectively, were managed initially by total parenteral nutrition and oral feedings begun around the fifth week postoperatively. Uncontrollable diarrhea, malabsorption, and failure to thrive made the early management of these babies a difficult problem. The two infants developed clinical features of hypothyroidism at the age of 4 and 6 mo, respectively. Hypothyroxinemia was confirmed by repeated detection of low serum levels of T4. Hormonal treatment resulted in clinical recovery and normalized T4 values. Thyroid function has remained normal after discontinuation of treatment, underlining the transient nature of hypothyroidism. Early recognition and therapy of this previously unreported association is essential in order to prevent mental retardation.