Erosion through the posterior gastric wall by a pancreatic pseudocyst secondary to gastric duplication

Gastric duplications are the rarest form of enteric duplication. They account for about 20% of all gastrointestinal duplications. Delayed and missed diagnosis leads to prolonged morbidity and mortality. We report a case of a child with a gastric duplication cyst in the body of the pancreas, associated with a pancreatic pseudocyst that ultimately eroded into the posterior wall of the stomach.     

Pyloric duplication in a neonate: a rare entity

Duplications of the alimentary tract are rare anomalies that have been reported to occur all along the gastrointestinal tract. Of the various alimentary tract duplications, pyloric duplications are extremely rare. We report the case of a 3-day-old neonate who was antenatally diagnosed as having a cystic mass in the abdomen and who presented with vomiting on the 2nd day of life. At operation, a duplication cyst of the pylorus was removed successfully and a pyloroantrectomy performed.     

Alimentary tract duplications in children: case and literature review

This report reviews 11 alimentary tract duplications over a 25-year experience at Children's Hospital Medical Center of Akron, Ohio. The cases are compared and contrasted to the literature with respect to lesion, location, and patient presentation. There were no multiple duplications in this series. Clinical presentations were related to obstruction, abdominal pain, and/or hemorrhage. There were four foregut duplications, five midgut duplications, and two hindgut lesions. All patients were treated by surgical removal and all survived. One case was an incidental finding at appendectomy. Pooled data from five large series of duplications revealed the ileal region to be involved in 41 percent of all duplications, followed by esophageal (21%), gastroduodenal (12%), and jejunal (8%). Diverticular, recanalization, and split notochord theories of pathogenesis are discussed. The curious association between duplications and gastric mucosa is explored.     

Rectal duplication cyst: a combined abdominal and endoanal operative approach

Rectal duplication cysts are rare, comprising <5% of all gastrointestinal duplications. Early excision is the treatment of choice and a number of surgical approaches have been described. We present a 3-week-old infant with a 3 cm cyst that was excised using a previously unreported combined abdominal and endoanal approach.     

Alimentary tract duplications in children: report of 26 years' experience

Duplications of the alimentary tract are one of the rare anomalies of the gastrointestinal system. Because of the wide spectrum of the signs and symptoms, preoperative diagnosis frequently cannot be made. A close familiarity with clinical and surgical characteristics provides appropriate management and treatment of duplications. A retrospective clinical study was conducted to evaluate clinical and surgical characteristics and the treatment of duplications of the alimentary tract. During a 26-year period between 1971 and 1997, 38 patients with duplications of alimentary tract underwent operation at the Hacettepe University Department of Pediatric Surgery. Forty-two duplications in 38 patients (20 male, 53%; 18 female, 47%) were encountered. Sixty-nine percent of the patients were symptomatic under the age of one year, with 24 percent presenting with symptoms in the neonatal period. There were one sublingual, nine intrathoracic (including 2 thoracoabdominal) and 32 intraabdominal duplications. Abdominal mass, abdominal distention, constipation, vomiting and respiratory distress were the most frequently encountered signs and symptoms. Plain thoracic and abdominal X-rays, ultrasonography, and computed tomography of the chest and abdomen were the most commonly used diagnostic radiological methods. Thirty-three duplications (79%) were spherical and nine (21%) were tubular. Multiple duplications were encountered in two patients (5.3%). Fourteen duplications (33%) contained heterotopic mucosa, mostly gastric type. More than one type of heterotopic mucosa in the same duplication was encountered in four duplications (10%). Additional malformations were encountered in 26 percent of patients. Six patients (15.8%) died from unrelated causes. The signs and symptoms vary among duplications. Signs and symptoms leading to diagnosis and surgery varied according to the age of patient, location of the duplication, type of mucosal lining, duration of disease and presence of complication. The ideal surgical treatment of duplication is complete excision. However, the other treatment options should be well known.     

Cystic rectal duplication: a rare cause of neonatal intestinal obstruction

A case of cystic rectal duplication revealed on day 2 of life by a low intestinal occluding syndrome is reported. Radiologic imaging (ultrasonography, cystography, rectography) showed a large, retrorectal liquid formation in the pelvis and abdomen, with pelvic compression of the terminal alimentary canal and lower urinary tract. Magnetic resonance imaging demonstrated a liquid formation with clearly defined edges and no medullary involvement, thus ruling out the possibility of a previous meningeal hernia. Biological markers were within normal limits. On day 4, a 9 × 6-cm cystic rectal duplication was removed, followed by a temporary colostomy. Pathologic examination demonstrated typical rectal architecture with ciliated cells. Radiologic and clinical findings at 2-month follow-up were reassuring. This case report is exceptional for the following reasons: (1) As a rule, rectal duplications are relatively rare (70 cases reported in the literature); (2) The means of disclosing a neonatal rectal duplication is unusual (4 cases reported in the literature); (3) The volume of the malformation was considerable; and (4) Heterotopic ciliated epithelium was present.     

Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb–polysyndactyly syndrome in a Chinese family and review of the literature

Syndactyly type IV (SD4) is inherited in an autosomal dominant fashion and characterized by complete cutaneous syndactyly of all fingers accompanied with polydactyly. Triphalangeal thumb–polysyndactyly syndrome (TPTPS) consists of a triphalangeal thumb, polydactyly, and syndactyly and is transmitted in an autosomal dominant manner with variable expression. Genomic duplications of the long-range limb-specific cis-regulator (ZRS) cause SD4 and TPTPS. Here, we report two individuals from a Chinese family with syndactyly. One individual had overlapping clinical symptoms of TPTPS and SD4, while the other had a typical SD4 with postaxial polydactyly of the toe. Results of quantitative PCR suggested that the duplication of ZRS involved all affected individuals, and array comparative genomic hybridization detected its size as 115.3 kb. Conclusion: This work confirms the genetic homogeneity of SD4 and TPTPS. Our result expands the spectrum of ZRS duplications. TPTPS and SD4 should be considered as a continuum of phenotypes.     

Ileal duplication with extensive gastric heterotopia in a girl

Background  

Gastrointestinal duplications are rare congenital abnormalities known to occur at any level of the alimentary tract from the mouth to the anus. The cause of intestinal duplication has not been established. Several theories have been put forward to explain different types of duplications. Some of these duplications are large sized and giant, and only 4 cases have been reported.     

Duodenal duplications. Clinical characteristics, embryological hypotheses, histological findings, treatment.

BACKGROUND: The aim of this study was to analyse different clinical aspects and embryologic hypotheses of duodenal duplications. METHODS: Duodenal duplications occurring since 1995 were recorded. The age of the children at the time of diagnosis, the sex, location of the duplication, type of mucosa, clinical signs, associated lesions, and the type of surgical intervention were defined. RESULTS: We identified 5 patients (3 girls and 2 boys) who presented with histological or intraoperative findings of duodenal duplication. Their ages ranged from 4 days to 9 years, with the exception of two prenatal diagnoses. Three children were symptomatic: high intestinal obstruction (1 case), digestive bleeding (2 cases). In 1 case we found a palpable abdominal mass and 1 case was completely asymptomatic (prenatal detection). The abnormality was located on the duodenal concavity, originating from the third part in 2 cases and from the second part in 3 cases. All cases were non communicating types, 4 of which were cystic duplications and 1 was a tube-like variety. The epithelial lining was duodenal mucosa in all patients, but gastric heterotopies were identified in 2 cases. We performed two complete resections and 3 intraduodenal derivations. The outcome was uneventful in 5 cases with an average follow-up of 2 years. CONCLUSION: Duodenal duplications are rare malformations with several anatomical varieties. The preferred treatment for duodenal duplications is complete removal when the location allows it without endangering nearby anatomical structures.     

Anatomical Investigation of 39 Cases of Congenital Duplication in Calves

Abstract The anatomical features of congenital duplication in the bovine calf encountered in 39 cases over eleven years in Hokkaido were investigated macroscopically. Among the animals studied, 14 were male, 20 female and 5 of unknown gender, and the anomaly was noted in 35 Holstein-Friesians, 3 Japanese Blacks and 1 Hereford.
The duplications observed in this study were classified by four types: free asymmetrical, 4 (all 4 acardius); attached symmetrical, 25 (14 cranial duplication, 2 dipygus, 2 dicephalus dipygus, 5 thoracopagus, and 2 pygopagus); attached asymmetrical, 6 (1 parasitic dipygus, 4 notomelia, and 1 pygomelia); and miscellaneous, 4. The four acardii were holoacardii amorphi covered with skin and hair. Cranial duplication was subdivided into five types based on the number of eyes and ears. In symmetrical twins the anterior part of the body was affected in 16 out of 25 cases (64%), the posterior part in 2 out of 25 (8%) and both the anterior and posterior in 7 out of 25 (28%). All were mirror-image duplicates on the various planes, and in some the internal organs had a center of symmetry. All four notomeli calves were female. Among the miscellaneous duplications, three were of the genital organs (male 1, and female 2) and one was a spinal cord duplication.     

Anal canal duplication in infants and children--a series of 6 cases.

The authors present a series of six anal canal duplications (ACD), duplications of the alimentary tract located along the posterior side of the anal canal, with a perineal opening just behind the anus. Five asymptomatic duplications were diagnosed before the age of one year, by simple perineal inspection. A twelve-year-old girl presented with perineal and anal pains and diarrhoea. Fistulography revealed a tubular structure in five cases and a cystic structure in one case, behind the normal anal canal, in one case communicating with it. A presacral sacrococcygeal teratoma was found in two children and in one case it was visualised by preoperative US in an infant with a lumbosacral myelomeningocele. Surgical excision was performed by a perineal approach in 5 cases, by a combined sacral and perineal approach in the last case, because of the associated teratoma. Non-invasive preoperative investigations, consisting of a pelvic X-ray, US examination, barium enema and fistulography, are sufficient in most cases; MRI is reserved for special indications. Surgical treatment restores a normal perineal aspect, without sequelae, and avoids complications like those described in other types of digestive duplications: infection, ulceration, bleeding, malignant changes during later adult life. Associated anomalies are frequently described in the literature, especially presacral tumours (16%) and anorectal malformations (21%); they can influence the management, the surgical approach and the functional prognosis.     

Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction

Genomic copy number variations (CNVs) can be detected by chromosomal microarray testing. However, upon final diagnosis, other methods may be recommended for a validation method to confirm CNVs. Trio analyses or carrier detection in family members are also frequently required. Previously, fluorescence in situ hybridization and/or quantitative PCR have been used; however, these methods present limitations. The purpose of this study was to establish a simple and rapid method to detect genomic copy numbers. We utilized droplet digital PCR (dPCR) with an intercalation method. Thirteen patients, who were diagnosed with MECP2 duplications via chromosomal microarray testing, were enrolled in this study. Four of their female relatives, who were verified as carriers of MECP2 duplications, were also included. Genomic copy numbers of MECP2 and IRAK1 were analyzed in comparison with reference genes: XIST and AR on the X-chromosome, and RPP30 and RPPH1 on the autosomal chromosomes. As a result, genomic copy numbers of MECP2 were rapidly and precisely detected by the dPCR system established in this study. This method can be widely applied as a diagnostic method to confirm CNVs on other chromosomal regions.     

Screening for RB1 mutations in tumor tissue using denaturing high performance liquid chromatography, multiplex ligation-dependent probe amplification, and loss of heterozygosity analysis.

Retinoblastoma is a malignant retinal neoplasm arising in infancy as a result of inactivating mutations in both alleles of the retinoblastoma susceptibility gene, RB1. Identification of the causative RB1 mutations in a patient assists in the clinical management of the affected patient and risk assessment of family members, principally on the basis of whether there is a germline mutation. In this paper, we describe our experience with molecular analysis of RB1 mutations in tumor and nontumor samples from 18 retinoblastoma patients, using multiplex ligation dependent probe amplification (MLPA) to detect large deletions or duplications, microsatellite analysis to detect loss of heterozygosity (LOH), and denaturing high performance liquid chromatography (D-HPLC) analysis to detect point mutations and small insertions or deletions. We found LOH in 71% of all cases, and 83% of these were due to acquired isodisomy rather than chromosomal deletions. Small mutations identified by D-HPLC accounted for 78% of the non-LOH mutations, and large deletions/duplications detected by MLPA accounted for the remaining 22%. We give the first report of a large, multiexon duplication in RB1 of exons 8 to 18.     

Foregut duplications

Twenty-one children were treated for foregut duplications at the Royal Hospital for Sick Children over a 42-year period. There were 11 males and 10 females. The mean age at diagnosis was 1 year 6 months; antenatal diagnosis was made in 1 case. Respiratory and gastrointestinal (GI) presentation predominated. The diagnosis was made by chest radiograph (10), barium swallow (5), at operation (4), and by ultrasound (2). All patients were treated surgically; the mortality was 10%. The histology of the epithelial lining of the duplications revealed gastric mucosa in 15 cases; in 5 the duplication cyst was lined by more than one cell type. Nine patients had other associated congenital anomalies, the majority of these were vertebral abnormalities. The size of this series emphasises that clinicians should be aware that duplication cysts occur and should be considered in a child with unusual respiratory or GI symptoms.     

Y-type urethral duplication: an unusual variant of a rare anomaly

Urethral duplications are rare anomalies. We present a 3-year-old continent boy passing urine since birth per anus while voiding from penis. Micturating cystourethrogram, retrograde urethrogram and cystoscopy revealed a Y connection between the posterior urethra and anal canal. The accessory channel was excised by a perineal approach. Histopathology revealed that the tract was lined by transitional epithelium, proving that it was indeed a case of urethral duplication; hence, we suggest that all urethroanal fistulas are not variants of anorectal malformations. Certain of these fistulas should be considered as variants of Y-type urethral duplication even if the orthotopic urethra is normal.     

Chromosome microarray in Australia: a guide for paediatricians

Chromosomal microarray or molecular karyotype has become the first-line genetic investigation for children with intellectual disability, autistic spectrum disorder or multiple congenital anomalies. Chromosomal microarray increases the detection rate of pathogenic chromosome imbalances including submicroscopic deletions or duplications in patients with undiagnosed intellectual disability to approximately 15% compared with 3% with conventional cytogenetics. This review article summarises the diagnostic technique and highlights the advantages and limitations of chromosomal microarray. Our aim is to assist clinicians in providing pretest counselling and with interpretation of the result.     

Gastrointestinal duplications

Gastrointestinal duplications are rare congenital lesions that can develop anywhere along the alimentary tract and may present in the newborn period as an abdominal mass. They are differentiated from other intraabdominal cystic lesions by the presence of a normal gastrointestinal mucosal lining. Multiple theories have been proposed to account for these lesions; however, no single theory adequately explains all the known duplications. They are most frequently single, tubular, or cystic and located on the mesenteric side of the native alimentary tract structure. Symptoms often are related to the location of the duplication; oral and esophageal lesions can create respiratory difficulties, whereas lower gastrointestinal lesions may cause nausea, vomiting, bleeding, perforation, or obstruction. Treatment is resection with care taken to protect the common blood supply of the native structures. Occasionally, a partial resection with mucosal excision is required to preserve intestinal mucosa.     

Obesity and survival in a cohort of predominantly Hispanic children with acute lymphoblastic leukemia

Acute lymphoblastic leukemia (ALL), the most common malignancy in children, constitutes 25% of all pediatric cancer. Childhood cancer patients who are obese at diagnosis represent a particular challenge for the oncologist. Obesity may complicate chemotherapy dose determination, and has been associated with decreased overall and event-free survival in a number of adult cancer patients, and more recently in pediatric patients. The purpose of the present study was to examine whether obesity at diagnosis was associated with decreased overall and event-free survival in a cohort of 322 predominantly Hispanic pediatric patients with B-precursor ALL. Obesity was classified as an age-standardized and sex-standardized body mass index z-score at or above the 95th percentile. Hazard ratios (HRs) for overall and event-free survival were assessed using Cox proportional hazards regression modeling. Obesity at diagnosis was not associated with decreased overall survival (HR = 1.40, 95% confidence interval = 0.69-2.87) or event-free survival (HR = 1.08, 95% confidence interval = 0.65-1.82) in the overall cohort or in either of the 2 age-at-diagnosis (2 to 9 y; 10 to 18 y) subgroups. Our finding of no obesity-related prognostic effect in the overall cohort and in the under 2 to 9-year age-at-diagnosis cohort was consistent with the previous large-scale study of ALL patients; the absence of a prognostic effect in the 10 to 18-year age-at-diagnosis cohort, however, conflicted with previous findings.     

Risk factors for candidemia in critically ill infants: a matched case-control study

OBJECTIVE: To determine risk factors for late-onset candidemia among infants in the neonatal intensive care unit (NICU). STUDY DESIGN: We performed a matched case-control study from March 2001 to January 2003 in 2 level III-IV NICUs. Case subjects had candidemia diagnosed more than 48 hours after hospitalization. Control subjects (3 per case) were matched by study site, birth weight, study year, and date of enrollment. Potential risk factors included medical devices, medications, gastrointestinal (GI) pathology (congenital anomalies or necrotizing enterocolitis) and previous bacterial bloodstream infections (BSIs). RESULTS: Forty-five cases of candidemia occurred during the study period and accounted for 15% of BSIs. C. albicans caused 62% of infections (28/45); C. parapsilosis, 31% (14/45). Multivariate analysis revealed that catheter use (odds ratio [OR]=1.06 per day of use; 95% confidence interval [CI]=1.02 to 1.10), previous bacterial BSIs (OR=8.02; 95% CI=2.76 to 23.30) and GI pathology (OR=4.57; 95% CI=1.62 to 12.92) were significantly associated with candidemia. In all, 26/45 cases (58%) of candidemia occurred in infants who would not have qualified for fluconazole prophylaxis according to the Kaufman criteria. CONCLUSIONS: We confirmed previous risk factors (catheter-days) and identified novel risk factors (previous BSI and GI pathology) for candidemia in critically ill infants that could guide future targeted antifungal prophylaxis strategies.     

Enteric duplication cysts of the pancreas: a report of two cases and review of the literature

Enteric duplication cysts are rare congenital malformations that are most commonly diagnosed in children. Enteric duplications associated with the pancreas are especially uncommon, and may present with specific clinical findings such as severe pancreatitis. These cysts often pose unique surgical challenges. In addition, the diagnosis of pancreatic duplication cysts is often difficult, and may be confused with pancreatic pseudocysts or neoplasms. Herein we report two cases of pancreatic duplication cysts, and present a complete tabulation of all case reports of pancreatic-associated duplication cysts reported in the English literature. We conclude that pancreatic duplication cysts are a rare entity, most commonly found to occur in infants and children. We further find that although severe complications may arise as a result of their presentation and treatment, the rate of post-operative complications in patients between 3 and 21 years of age is extremely low, with the highest complication rate occurring in a bimodal distribution (<3-years and >21-years of age). Despite complications in the youngest and older patient populations, surgical excision remains the mainstay of therapy for pancreatic duplication cysts in all age groups.