Budd-Chiari syndrome following repair of a giant omphalocele

We report a case of Budd-Chiari syndrome following repair of a giant omphalocele. Thrombosis of hepatic veins and of retrohepatic inferior vena cava may result from direct pressure on the hepatic venous outlet after visceral reduction and final abdominal wall closure.     

Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation

We describe a female stillbirth with duplication of 3q21-->qter and deletion of 11q23-->qter resulting from an unbalanced segregation of a maternal t(3;11) reciprocal translocation. The proband had some of the clinical features consistent with those seen in patients with dup(3q) syndrome or distal del(11q) syndrome. Prenatal sonographic examination showed short limbs, intrauterine growth retardation, and an omphalocele containing the liver.     

Variations in the bladder exstrophy complex associated with large omphalocele

Two newborns with a large omphalocele associated with the bladder exstrophy complex are presented. In 1 case the omphalocele was combined with a musculoskeletal defect and imperforate anus with an anovulvar fistula. The other patient had a musculoskeletal deformity and a duplicated bladder with exstrophy. Surgical treatment was successful in both cases.     

Ulceration of the ileum in Crohn''s disease: correlation with vascular anatomy

Forty-five cases of gastroschisis and 85 of omphalocele were reviewed. The survival of gastroschisis has dramatically improved over the past 20 years, however, that of omphalocele still remained in the lower value, because the size of the defect and the presence of associated anomalies are prognostic factors. The primary fascial closure was first employed for the patients with gastroschisis and a silo chimney was used for limited cases. On the other hand, for the patients with omphalocele, primary closure was possible in 34 cases, silo chimney was used in 17, and 45 cases had nonoperative management with epithelialization. Among them, nonoperative management using painting was the most reliable therapeutic for omphalocele.     

Giant megalo-ureter and duplex kidney in an asymptomatic adult

An abdominal mass was palpated in an asymptomatic adult during a routine medical check-up. Ultrasonography and computed tomography scan diagnosed a simple renal cyst, a mesenteric cyst and a seminal vesicle cyst. At laparotomy a complete ureteral duplication and a giant ectopic megalo-ureter were diagnosed. Other complications were ruled out in the follow-up. Ureterectomy without heminephrectomy was performed and the patient remains asymptomatic 5 years after surgery.     

False-positive WBC imaging secondary to a distended bladder and fecal retention

We present the sonographic findings of a fetus with a vesicoallantoic cyst. The cyst was first identified at 17 weeks of gestation; it was associated with an omphalocele, and disappeared spontaneously at 29 weeks. The fetal urinary bladder was not visualized thereafter. An omphalocele and exstrophia of the urachus were found at birth and repaired. Non-visualization of the fetal urinary bladder suggested rupture of the covering membrane of the omphalocele and allantois during fetal life. A defect in the wall of the omphalocele supported our hypothesis.     

Esophageal hiatal hernia after omphalocele repair

Esophageal hiatal hernias (EHH) are probably caused by congenital, traumatic, or iatrogenic factors, although the etiology remains unknown. EHHs may develop after abdominal wall closure for omphalocele or gastroschisis due to the increased intra-abdominal pressure, however, there have been few reports in the literature. We present a case of EHH developing after abdominal wall closure.     

Atypical cat-scratch disease: a case report of splenic granulomatosis]

Two paediatric cases of patent urachus are reported. In one of these cases, the anomaly was isolated whereas in the other case an omphalocele was also noted. Radical excision of the urachus with segmental resection of the bladder was easy and highly effective. Anatomy, complications and therapeutic aspects of this rare condition are discussed.     

Complete duplication of the colon in assoication with urethral duplication

A case is presented in which complete colonic duplication is associated with genitourinary and bone abnormalities including a complete duplication of the urethra. The etiology, appearance, clinical course, and classification of various large bowel duplications are discussed.     

Prediction of outcome in omphalocele and gastroschisis by intraoperative measurement of intravesical pressure

A simple and accurate measurement of intraabdominal pressure is essential to predict a successful closure of defects in omphalocele and gastroschisis. Intravesical pressure (IVP) is a close estimation of intraabdominal pressure and can be measured safely by placing a catheter in the urinary bladder during surgery. Three neonates with gastroschisis and four with omphalocele were studied. Pressure-related complications such as ascites leakage, ventral hernia, impaired venous return of the lower extremities, and oliguria developed only in the patients with IVP > 20 mmHg after fascial closure. Prolonged hospitalization, ventilation support and intensive care were required for these patients.     

Bronchopulmonary foregut malformation mimicking neuroblastoma

We report the case of a patient with an unusual, complex bronchopulmonary foregut malformation. The malformation included an extralobar sequestration, an esophageal duplication cyst, and a gastric duplication cyst. Postnatal imaging suggested a fetal adrenal neuroblastoma.     

Pulmonary sequestration associated with a gastric duplication cyst

A case of right subdiaphragmatic extralobar pulmonary sequestration (PS) associated with a gastric duplication cyst is reported. To the authors' knowledge such a case has not been reported previously in the English literature. PS was first noted as a defect on a nuclear liver image. The duplication cyst was defined by ultrasonography. A review of the English literature is included.     

Topiramate efficacy in infancy

Syncytial giant cell hepatitis is a severe form of hepatitis characterized by diffuse giant cell transformation of hepatocytes. The disease may evolve to chronic cholestatic cirrhosis necessitating liver transplantation. We report the case of an adult liver transplant recipient presenting with early recurrent disease without concomitant clinicobiochemical syndrome. Early recurrence of giant cell hepatitis after liver transplantation favors the hypothesis of a transmissible agent as the etiology of the disease. Routine follow-up liver biopsy is necessary in these cases in order to gain more information about the precise incidence and aggressivity of disease recurrence in the allograft.     

Giant colonic diverticulum: presentation of one case and review of the literature

Since the first case described in 1946, fewer than 100 cases of giant colonic diverticula have been reported in the literature. We discuss the clinical, radiologic, and pathologic findings in a case of giant colonic diverticulum and review the etiology and differential diagnosis.     

Development of the enhanced neural response to NaCl in Fischer 344 rats

Duplications of the esophagus or stomach alone are infrequent, and complete foregut duplication has only rarely been described. Most combined esophagogastric duplications present within the first year of life, and if communication with the normal alimentary tract does occur, it does so only either above or below the diaphragm. This report illustrates a case of continuous duplication of the esophagus and stomach with communication to the normal alimentary tract at both proximal and distal ends. Operative management and a review of the literature and embryology are described.     

Patterns of radiological progression in early rheumatoid arthritis: results of an 8 year prospective study

Physical mapping across a duplication can be a tour de force if the region is larger than the size of a bacterial clone. This was the case of the 170- to 275-kb duplication present on the long arm of chromosome 21 in normal human at 21q11.1 (proximal region) and at 21q22.1 (distal region), which we described previously. We have constructed sequence-ready contigs of the two copies of the duplication of which all the clones are genuine representatives of one copy or the other. This required the identification of four duplicon polymorphisms that are copy-specific and nonallelic variations in the sequence of the STSs. Thirteen STSs were mapped inside the duplicated region and 5 outside but close to the boundaries. Among these STSs 10 were end clones from YACs, PACs, or cosmids, and the average interval between two markers in the duplicated region was 16 kb. Eight PACs and cosmids showing minimal overlaps were selected in both copies of the duplication. Comparative sequence analysis along the duplication showed three single-basepair changes between the two copies over 659 bp sequenced (4 STSs), suggesting that the duplication is recent (less than 4 mya). Two CpG islands were located in the duplication, but no genes were identified after a 36-kb cosmid from the proximal copy of the duplication was sequenced. The homology of this chromosome 21 duplicated region with the pericentromeric regions of chromosomes 13, 2, and 18 suggests that the mechanism involved is probably similar to pericentromeric-directed mechanisms described in interchromosomal duplications.     

Long-term survival in a patient with congenital laryngeal atresia and multiple malformations

A 74-year-old female with the chief complaint of lower abdominal and anal pain had been suffering from total incontinence due to cerebral palsy since her childhood. A giant stone was palpable on vaginal examination. A radiograph showed a giant calcification in the pelvis. Magnetic resonance imaging (MRI) revealed a giant vesico-vaginal stone, which occupied most of the bladder and vagina. Cystolithotomy was performed. The removed stone weighed 435 g, and measured 9.0 x 6.5 x 5.5 cm, and was composed of magnesium ammonium phosphate. To our knowledge only eight cases of female giant vesical stone have been reported. We herein report a rare case of vesico-vaginal stone unrelated to gynecological procedures.     

Giant aneurysm of the middle cerebral artery

A case of a giant aneurysm of the middle cerebral artery, (4.5 X 4.5 X 9.5 CM) presenting as a mass lesion, which was successfully excised is described. This case is compared to the few previous accounts of giant aneurysms of the middle cerebral artery larger than 3 cm in diameter.     

Neovascularization and HGF: neovascularization in proliferative diabetic retinopathy and intraocular HGF

We experienced a case of multiple bilateral giant bullae of the lungs and treated by thoracoscopic bilateral resection. A 46-year-old male was admitted to our hospital on the diagnosis of bilateral giant bullae of the lungs. Chest CT scan and lung perfusion scintigraphy showed giant bullae at the apex of both lungs and at the left lower lobe. The border of the bullae was relatively clear, and the other lung was almost normal although it was compressed by the bullae. We evaluated this case and found that it was a good indication for a thoracoscopic bilateral resection. The patient was positioned on his back, and a successful thoracoscopic bilateral resection was performed. The patient was discharged from the hospital on the 10th day postoperatively. Chest CT scan, lung perfusion scintigraphy and respiratory function test performed 2 months postoperatively, showed remarkable improvement. We would recommend this surgical technique in patients with similar diagnosis.     

Fryns syndrome: two further cases without lateral diaphragmatic defects

We report on two unrelated infants with Fryns syndrome but without lateral diaphragmatic defects. In case 1, a female stillborn, pertinent findings included a coarse facies, cleft palate, short neck with a broad pterygium, heart defect, lung hypoplasia, omphalocele, urogenital malformations, anal atresia, and distal digital hypoplasia. Case 2 showed a coarse facies with cleft lip and palate, para-oesophageal hernia with herniation of the stomach into the thoracic cavity, malrotation of the intestine, hydronephrosis, and anal atresia. At age 14 months she was developmentally severely retarded. These observations represent the 11th and 12th reports of probable Fryns syndrome without lateral diaphragmatic defect.