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.     

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.     

Esophageal duplication in children. Report of 7 cases]

Esophageal duplications represent 10 to 20% of esophageal malformations and 15 to 20% of digestive duplications. METHODS: The authors report a series of seven cases observed between 1985 and 1999. RESULTS: The sex ratio was 2.5. The diagnosis was made before the age of six months in five cases. The clinical presentation included respiratory signs in six cases and digestive signs in five cases. The diagnosis was made on the association of a mediastinal mass behind vertebral malformation in five cases. The duplication was cystic in five cases and tubular in two. A perforation in the pleura occurred in one case of tubular duplication. The intervention consisted of total excision of the duplication in four cases and subtotal resection in two cases. For the seventh patient, who presented a perforation of the duplication in the pleura, the operation comprised a thoracic drainage associated to feeding gastrostomy. The histologic examination of the six operative specimens confirmed the diagnosis of esophageal duplication. Six patients survived and have favorable evolution with an average follow-up of four years. DISCUSSION: Esophageal duplications represent 15 to 20% of digestive duplications. Their clinical presentations are variable. Their diagnosis is often made before the age of two years, when a posterior mediastinal mass is associated with vertebral malformations. Apart from the tubular form, which is rare, diagnosis is confirmed by the histologic study of the operative specimen. CONCLUSION: Esophageal duplications are rare and often pose a problem of positive diagnosis. Their treatment is surgical and should be undertaken before the appearance of complications.     

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.     

Intestinal malrotation presenting outside the neonatal period.

We report 37 patients ranging in age from 1 month to 14 years treated for intestinal malrotation during a five year period. The main presenting features consisted of intermittent attacks of vomiting (15 patients), failure to thrive (seven), and recurrent colicky abdominal pain (seven). The diagnosis was confirmed by gastrointestinal contrast studies in all but three patients. A standard Ladd''s procedure comprised the definitive surgical treatment. We emphasise the poor nutritional state at the time of operation (49% of the cases were on or below the third centile). In contrast with neonatal presentation, volvulus of the midgut occurred in only five patients (14%) compared with 68% in neonates with malrotation. There were two deaths in the series. Ninety four per cent of the remaining patients responded favourably to the operative procedure. Malrotation should be considered in the differential diagnosis of a wide variety of symptoms and should be treated promptly once the diagnosis has been confirmed.     

Congenital toxoplasmosis: 10-year follow up

Abstract A long-term follow up was begun in 1982 on offspring of mothers who acquired toxoplasmosis during gestation. The 114 newborns were subdivided into 3 groups: (1) 26 born to mothers with certain infection; (2) 51 born to mothers with probable infection, and (3) 37 born to mothers with doubtful infection. There were five infections in the first group (19.2%), three in the second (5.8%) and none in the third. For purposes of data elaboration we considered only the 77 offspring of mothers with certain or probable infection. Of these, 2 infected cases out of 52 (3.8%) were born to mothers with infection in the first trimester of pregnancy, 4 out of 21 (19%) in the second trimester, and two out of four in the third. There were a total of 8 congenital infections (10.4%). Specific IgM antibodies were revealed in five out of eight infected children (62.5%). Infection was symptomatic in two children (2.6% of newborns at risk, 25% of infected cases), both born to mothers with infection in the second trimester. In the other six cases diagnosis was reached by evaluating trends in antibody levels: the percentage of infected newborns was higher in the group of maternal infections untreated (50%) or improperly treated (15.4%), compared to those receiving adequate treatment (6.9%). We suggest considering as infected children presenting specific IgM antibodies and/or antibody titres which do not become negative, even when symptoms are absent. Therapy with spiramycin should be started in all newborns at risk, while the use of sulphamides and pyrimethamine is justified only after the presence of infection is confirmed.Conclusion Identification of susceptible women before or early in pregnancy would permit adoption of preventive measures aimed at reducing the frequency of congenital infection which is still high in our case series.     

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.     

Hypospadias and urethral abnormalities in Down syndrome

In the course of general medical evaluations of 149 children and adolescents (younger than 21 years of age) and 11 adults with Down syndrome, five of the 77 males were noted to have dorsal urethral duplications. In all instances, there proved to be a single urethral meatus. The second opening led into a pit or blind channel, reflecting the presence of a distal hypospadias. In these five patients, laboratory studies were normal, nephrology histories were negative, and radiographic studies did not demonstrate any anatomic abnormalities of the urethra, ureters, or kidneys. These findings indicate that there is an increased occurrence of distal hypospadias in males with Down syndrome that may present with dorsal urethral duplications and/or glanular hypospadias.     

Evaluation of child abuse reporting by physicians

There is little information concerning child abuse reporting by physicians. The present study, a questionnaire survey, was therefore designed to examine several aspects of child abuse reporting by practicing physicians in Virginia. Physicians diagnosed few abused or neglected children in their practices. More than 90% saw five or fewer cases, and 26% encountered no abuse or neglect at all during the preceding year. Most physicians were inclined to report all diagnosed cases of physical abuse (91%) and sexual abuse (92%), but fewer reported all cases of physical neglect (58%), emotional abuse (45%), or medical neglect (43%). The two most frequently cited reasons for not reporting were (1) reluctance to report before you are certain of the diagnosis of abuse or neglect; (2) the belief that you can work with the family to solve the problem without outside intervention.     

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.     

Clinical,endoscopic, and histologic features of eosinophilic inflammation of the gastrointestinal tract in pediatric liver transplant patients

Immunosuppression during the post‐transplantation period has led to dramatic outcome improvements in PLTR patients. There have been reports describing the development of food allergies and an increased predilection for development of EGI in PLTR. We aimed to identify the clinical, endoscopic and histologic features of EGI in PLTR patients. In this retrospective case series we analyzed medical record of all PLTR who underwent EGD and/or colonoscopy at our institution from 2000 to 2006. From 2000 to 2006, 32 PLTR patients underwent endoscopic evaluation. Seventeen (53%) of 32 patients were diagnosed with EGI. Endoscopic abnormalities were seen in the esophagus, stomach, and small intestine in 11 (65%), 11 (65%), and four (24%) patients, respectively. Eosinophilic inflammation was seen in the esophagus, stomach, and small intestine in 13 (76%), 10 (59%), and five (29%) patients, respectively. Nine of 17 patients underwent colonoscopy and endoscopic abnormalities were seen in four (44%) patients. Five patients (56%) had eosinophilic inflammation. In conclusion, we have characterized the clinical, endoscopic, and histologic features of EGI. Histologic and endoscopic examination reveals that, when present, EGI is often found at multiple segments along the gastrointestinal tract.     

Congenital diaphragmatic hernia: a survey of practice in Scandinavia

There is no consensus on the treatment of congenital diaphragmatic hernia (CDH), and practice seems to vary between centres. The main purpose of the present study was to survey current practice in Scandinavia. Thirteen paediatric surgical centres serving a population of about 22 million were invited, and all participated. One questionnaire was completed at each centre. The questionnaire evaluated management following prenatal diagnosis, intensive care strategies, operative treatment, and long-term follow-up. Survival data (1995-1998) were available from 12 of 13 centres. Following prenatal diagnosis of CDH, vaginal delivery and maternal steroids were used at eight and six centres, respectively. All centres used high-frequency oscillation ventilation (HFOV), nitric oxide (NO), and surfactant comparatively often. Five centres had extracorporeal membrane oxygenation (ECMO) facilities, and four centres transferred ECMO candidates. The majority of centres (7/9) always tried HFOV before ECMO was instituted. Surgery was performed when the neonate was clinically stable (11/13) and when no signs of pulmonary hypertension were detected by echo-Doppler (6/13). The repair was performed by laparotomy at all centres and most commonly with nonabsorbable sutures (8/13). Thoracic drain was used routinely at seven centres. Long-term follow-up at a paediatric surgical centre was uncommon (3/13). Only three centres treated more than five CDH patients per year. Comparing survival in centres treating more than five with those treating five or fewer CDH patients per year, there was a tendency towards better survival in the higher-volume centres (72.4%) than in the centres with lower volume (58.7%), p =0.065.     

Ambiguous genitalia: medical, socio-cultural and religious factors affecting management in Saudi Arabia.

Twenty-eight children with ambiguous genitalia were seen at King Khalid University Hospital over a 6-year period. The incidence of this disorder was 0.4/1000 live births. Of the total, 21 (75%) were Saudis and seven (25%) were non-Saudis. The consanguinity rate was 67.9%. Twenty-four (85.7%) were born in hospital and four (14.3%) at home. In only three (10.7%) was the news first broken to the parents by a senior doctor, in 13 (46.4%) by a junior doctor, and in 11 (39.3%) by a nurse. Ambiguous genitalia were observed in 22 (78.6%) at birth and in six (21.4%) were picked up later. Owing to a lack of immediate investigative facilities and for some socio-cultural reasons, 19 of the latter groups were assigned sex without prior investigations. There was an obvious preference to assign male sex. On investigation, 13 (46.4%) had XX chromosomes, 11 (39%) XY and one (3.6%) XO: in three (10.7%), chromosomal results were not available. There were 14 cases (50%) of congenital adrenal hyperplasia, two of 5-alpha reductase deficiency (7.1%), and five of testicular feminization syndrome (17.9%), in addition to others. After investigation, five (17.9%) of the children needed sex reassignment. This was accepted by two and rejected for socio-cultural reasons by three. The opinion of the religious leaders was obtained. Some recommendations on management of these cases are made, based on our local experience.     

Long-term prognosis of giant coronary aneurysm in Kawasaki disease: an angiographic study

The incidence of coronary obstruction subsequent to giant coronary aneurysm in Kawasaki disease was studied. In 20 cases, aneurysms with a maximal diameter greater than 8 mm were identified by coronary angiography 2 to 120 months (mean 16.9 months) after onset. There were 25 giant aneurysms among these 20 patients, all of whom underwent coronary angiography between 12 and 134 months (mean 31.7 months) after initial examination. Coronary obstruction occurred in six cases (30.0%), all within 4 years of onset of disease. There were five obstructive aneurysms in the right coronary artery (5/12; 41.7%) and two in the left coronary artery (2/13; 15.4%). One of these patients developed symptomatic myocardial infarction. Two had abnormal electrocardiographic findings suggesting myocardial infarction. In five cases, persistent perfusion defects were found by myocardial imaging. On the other hand, in two patients giant aneurysms persisted without obstructive changes for greater than 10 years. In both cases the aneurysm was in the left coronary artery and obstruction of the right coronary artery was found at initial angiography. These results seem to indicate the limited efficacy of antiplatelet therapy for giant coronary aneurysms in Kawasaki disease and that giant aneurysms are likely to progress to become obstructive within a few years even if antiplatelet therapy is given. Other forms of treatment, including surgery, should therefore be considered in such patients.     

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.     

Long-term follow-up and results of thirty pediatric intracranial hydatid cysts: half a century of experience in the Department of Neurosurgery of the School of Medicine at the University of Istanbul (1952-2001)

A series of 30 documented cases of intracranial hydatid cyst out of 33 pediatric and 45 total patients admitted to the Department of Neurosurgery of the School of Medicine at Istanbul University within the years 1952-1996 is presented. The pediatric population consisted of 73% of the series. Twenty patients (66%) are alive and well after a follow-up period of 8-45 years (mean 21.5 years). Six patients (20%) died and 4 (13%) were lost to follow-up. There were 3 early postoperative deaths (10%), 2 being in the pre-CT era. In 4 cases (13%), brain involvement was secondary, and 2 cases (7%) had multiple intracranial hydatid cysts. Age ranged from 4 to 16 years, with a mean of 10.4. There were 5 intraventricular (17%) and 2 (7%) intracranial extradural settlements. No children with posterior fossa hydatid cyst, primary skull hydatidosis or concomitant spinal involvement were detected. One patient (3%) presented with "rhinorrhea" which in fact was a hydatid fluid leak. Preoperative pseudocerebellar syndrome, convulsion and extrapyramidal signs were seen in 6 patients each (20%). Five patients (17%) had permanent visual deficits, 3 being in pre-CT era. Out of 29 patients operated on, hydatid birth with intact cyst removal was achieved in 18 cases (62%), with no other manipulation needed. This rate has increased to 70% in the CT era. Intraoperative accidental rupture occurred in 8 cases (28%), of which 7 were localized frontally or had a frontal involvement (88% of the ruptured cases). Of the patients with intraoperative rupture, 5 are dead (63%) and they were all primary. In contrast, all 3 cases alive with intraoperative rupture are secondary. Three cases were punctured on purpose (10%). Four of the operated patients (14%) required long-term antiepileptic therapy, 3 having no preoperative seizures. Only 1 patient required a shunt (3%). Four cases had recurrence, all with intraoperative cyst rupture (14%). The long-term evaluation of the results yielded an overall mortality rate of 21%. Routine use of CT after the 80s decreased the rate to 14%. With the analysis of 50 years of data, it is strongly concluded that brain involvement in pediatric hydatid disease is a primary process if delayed diagnosis and insufficient treatment of extraneural hydatidosis are prevented.     

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.     

Juvenile chronic myelocytic leukemia—report of 10 cases

Ten children (five boys and five girls) with juvenile chronic myelocytic leukemia were seen over a period of 12 years (1980–1991) at the All India Institute of Medical Sciences, New Delhi. With the exception of one who was aged 4.5 years, all children were below 4 years of age (mean age 20.4 months). The presenting features included fever, bleeding secondary to thrombocytopenia, marked hepatosplenomegaly, and skin rash. The striking hematological features were anemia, thrombocytopenia, peripheral blood monocytosis, and normoblastemia. There was no significant myeloid proliferation in the bone marrow aspirate (mean M:E = 5:1), while erythroid proliferation was prominent along with monocytosis (mean 11.2%). Fetal hemoglobin was raised in 8 of the 10 patients (mean 14.1%). Long-term survival was poor, with maximum survival being 18 months in one case. New modalities of management of this rare entity are discussed. © 1995 Wiley-Liss, Inc.     

Implanted Defibrillators in Young Hypertrophic Cardiomyopathy Patients: A Multicenter Study

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease, with an annual risk of sudden cardiac death (SCD) estimated at 1 %. Limited data are available regarding both the risk of SCD in the young HCM population and the use of implantable cardioverter-defibrillators (ICDs). This retrospective study included all patients with HCM who underwent ICD implantation for primary or secondary prevention of SCD before the age of 30 years at five institutions between 1995 and 2009. There were 99 devices implanted in 73 patients. Appropriate shocks occurred for 11 % of all the patients. None of the previously identified conventional risk factors for SCD in HCM patients were associated with increased risk of appropriate shocks in the young study cohort. During a median follow-up period of 2.4 years, inappropriate shocks occurred for 22 % of the patients. Older age at implant was associated with a decreased risk of inappropriate shock. Those who underwent implantation in the earlier decade had a higher incidence of inappropriate shocks. Late complications including lead fracture or dislodgement, generator malfunction, and infection occurred for 32 % of the patients. Three patients died (4 %), one of whom had an arrhythmic sudden death. A greater proportion of primary prevention implantations was performed for patients from the latter decade. Over time, ICD use in young HCM patients has become increasingly primary prevention oriented. Shock rates mirror those reported in adult series, and there is a substantial incidence of device complications.