Oesophageal atresia and biliary atresia: a rare association

Oesophageal atresia is known to be associated with cardiovascular, gastrointestinal, genitourinary and skeletal anomalies. Its association with biliary atresia is very rare and only a few cases have been reported in the literature. Although biliary atresia could be part of a multiple anomaly syndrome, its isolated occurrence is even rare. We present a case of oesophageal atresia associated with biliary atresia.     

Oesophageal atresia in twins

The twin incidence is higher in infants with oesophageal atresia (OA) than in the general population. The purpose of this study was to review the twin OA information from five institutions and evaluate possible links between the development of OA and the twinning process. Data were compared, combined, and analysed. There was a total of 1215 infants with OA, of whom 50 were from a twin pregnancy and 1 from a triplet pregnancy. Two sets of twins were concordant for OA. Mean birth weights and gestational ages were lower in the twin infants (P < 0.0005) and survival was lower in twins (65%, P < 0.005) than singletons. The anatomical variant of pure OA without fistula was seen in proportionally fewer twins (4%) than in singletons (7%). Multiple anomalies were present in 40% of twins compared with 33% of singletons, although this did not reach statistical significance. OA in our multicentre population was more common in twins. Several possible mechanisms are put forward to explain the apparent link between twinning and OA. Further analysis of this aspect of OA may aid in understanding the aetiology of this congenital anomaly. Accepted: 14 December 1999     

Sickle cell disease in children in Dakar, Senegal]

AIM OF THE STUDY: To determine the socioeconomic, clinical and biological aspects of sickle cell disease (SCD) in Senegalese children and adolescents, we retrospectively analysed all records of follow-up attending patients in the Albert Royer Children Hospital of Dakar (Senegal). RESULTS: Homozygous sickle cell (SS) was the most frequent genotype (307 cases). Sickle cell hemoglobin C (13 cases) and sickle cell beta-thalassemia (three cases) were uncommon. Patients were aged from five months to 22 years (mean age: eight years). Most of them came from poor families. The mean number of children was five in patients' families, with at least two cases of SCD in 60% of them. Immunization against hepatitis B virus (10.2%), Haemophilus influenzae b (8.4%), Salmonella (8.7%) and Streptococcus pneumoniae (21.4%) was insufficiently performed, because of its relatively high cost. Only 30% of the patients had received a blood transfusion. Painful crises occurred less than three times a year in 74% of the cases. Complications such as acute chest syndrome (1%), stroke (1%), cholelithiasis (9%), meningitis (0.4%), septicemia (2%) and osteomyelitis (6%) were rare. Mean steady state hemoglobin (Hb) and hemoglobin F(HbF) levels were 8.27 +/- 1.36 g/dL and 6.8 +/- 5.9% respectively among SS patients. No correlations were found neither between Hb and HbF nor between these parameters and the frequency of complications. Eleven patients (1.1% per year of follow-up) died, and infection was the main cause of death (73%). CONCLUSION: In comparison with published data, SCD seems to have mild severity in Senegalese children and adolescents in spite of poor follow-up conditions. In addition to genetic factors, environmental factors might have an important role in disease tolerance.     

Oesophageal atresia in father and daughter

Abstract We report oesophageal atresia without tracheo-oesophageal fistula in a father and daughter, the first case of recurrence of oesophageal atresia without fistula to be reported in a parent and offspring.     

Oesophageal atresia and tracheo-oesophageal fistula

Oesophageal atresia with tracheo-oesophageal fistula is a relatively common congenital anomaly occurring in around 1:2500 births. The aetiology and embryology of the condition remain unclear, whilst associations with other significant anomalies are common. Studies in rodent models are contributing to our understanding of the condition. Advances in surgical care and neonatal management have improved survival considerably to around 90%. Long-gap and isolated oesophageal atresia present significant management challenges. Post-operative and long-term complications including oesophageal stricture, gastro-oesophageal reflux and respiratory compromise however remain relatively common and continue to pose a challenge for the ongoing management of patients.     

Oesophageal atresia and tracheo-oesophageal fistula

Oesophageal atresia-tracheo-oesophageal fistula has featured in paediatric surgery since its beginnings. The first successful primary repair was in 1941. With overall survival now exceeding 90% in dedicated centres, the emphasis has changed to reducing morbidity and achieving improvements in the quality of life. An overview of current and emerging strategies in managing patients with this condition is presented. Advances in developmental biology and molecular genetics reflecting improved understanding of the pathogenesis are highlighted.     

Oesophageal atresia and vertebral anomalies

Oesphageal atresia and/or tracheo-oesophageal fistula are relatively common congenital anomalies, occurring once in 3, 000 births [6, 10]. Associated anomalies are seen frequently, and in a series of 538 patients admitted to the Royal Children's Hospital, Melbourne, 256 had additional anomalies (47.5%). Evaluation of the spine was possible in 345 patients; in 57, structural vertebral anomalies were present (16.5%). Of the 57 with a structural abnormality of the spine, 40 had an abnormality of formation, 6 an abnormality of segmentation, and 10 had a combined defect. In the other patient, a bipartite cervical vertebra was present. Eight patients had scoliosis without a recognisable congenital spinal abnormality. In 81 there was a congenital rib abnormality; 56 of this group had a normal spine, 24 had a structural abnormality of the spine, and in 1 patient scoliosis was present without a structural abnormality of the spine. Comparison is made between our findings and the findings in other reported series and comments are made on the significance of spinal and/or rib anomalies in association with oesophageal atresia. Offprint requests to: N. A. Myers     

Oesophageal atresia and the CHARGE association

We report two boys with oesophageal atresia and the CHARGE association, both of whom eventually died from the effects of their cardiac anomalies. It is important to distinguish the CHARGE association from the VATER association because the former collection of anomalies conveys a much gloomier prognosis than the latter. Offprint requests to: A. Valente     

Oesophageal atresia and associated anomalies.

Of 253 infants with oesophageal atresia treated over an eight year period, 122 (48%) had a total of 213 other anomalies. Most commonly affected were the cardiovascular (61 cases, 29%), anorectal (30 cases, 14%), and genitourinary (29 cases, 14%) systems. The VATER (or VACTERL) association was present in 10% of cases, but occurred more often in patients who had oesophageal atresia without an associated tracheo-oesophageal fistula (3/13, 23%). The level of the associated anorectal malformation was not associated with the type of oesophageal atresia. The presence and severity of other anomalies did not influence the basic approach to treatment of the oesophageal atresia--that is, primary repair whenever possible. Despite aggressive treatment, cardiac malformations were the most common cause of death. There were five infants with the CHARGE association, two with Potter''s syndrome, and two with ''SCHISIS'' syndrome (cleft lip and palate, omphalocoele, and hypogenitalism).     

Oesophageal atresia: a handshake with malrotation.

Oesophageal atresia and tracheo-oesophageal fistula patients are known to have associated anomalies. Malrotation is a dangerous diagnosis to miss. The association of oesophageal atresia and tracheo-oesophageal fistula with malrotation is known but not quantified and certainly not emphasised enough in the literature. We retrospectively studied our population of oesophageal atresia and tracheo-oesophageal fistula patients to look for an associated malrotation. Ninety-one patients with oesophageal atresia were reviewed during 1978 - 1997, of whom 60 patients had an upper gastrointestinal study. Three of these patients (5 %) were noted to have malrotation. We would recommend a routine post-operative upper gastrointestinal study to look for abnormalities of intestinal rotation along with other information that can be obtained by the study. We also recommend that in patients with pure atresia, at the time of gastrostomy, intestinal rotation should be determined. All clinicians dealing with infants with oesophageal atresia should be aware of this association.     

Oesophageal atresia: a simplified approach to early management

 Management following the repair of oesophageal atresia (OA) with tracheooesophageal fistula (TOF) in the past included the routine use of an intercostal chest drain, a gastrostomy, or a transanastomotic tube (TAT) for enteral nutrition and a routine contrast swallow (CS) before oral feeds. There has been a trend towards simplification of the management, but this is not universal. The aim of this study was to evaluate the safety of a simplified management regime in infants undergoing primary repair of OA in a retrospective case note review of infants undergoing surgery for OA with TOF under the care of one consultant over a 12-year period. Intercostal chest drains, TATs, and CSs were not routinely used. Early enteral feeding was initiated and oral feeding was allowed in babies of adequate birth weight (BW) and gestation. A CS was only performed when there were specific anastomotic concerns. Parameters recorded included demographic details, time to first enteral feed by tube or mouth, time to full oral feeds, and complications. Forty patients were studied; 17 were managed without (group 1) and 23 with (group 2) a TAT. Sex distribution, gestational age, and BW were comparable in the two groups. In group 1, the time to the establishment of full oral feeds was 2–8 days (average 3.9). Four infants developed strictures; 2 were managed with dilatation alone and 2 required surgery. In group 2, the time to the establishment of full enteral feeds was 2–12 days (average 5.9). Four patients developed strictures; 2 underwent an anti-reflux procedure and a 3rd resection of a cartilaginous remnant. There was 1 death in a patient with intractable cardiac failure. The majority of infants with OA and TOF can thus be safely managed without routine chest drainage or CS. A sizeable minority do not require a TAT. Early introduction of oral feeds in the non-TAT group is not associated with an increased complication rate. Accepted: 21 March 2001     

Oesophageal atresia: paralysis and ventilation in management of the wide gap

The position of the upper pouch in oesophageal atresia is greatly influenced by flexion and extension of the neck and that of the lower pouch by diaphragmatic excursion. Successful repair was achieved in five infants with a wide gap without leak or significant stricture by paralysing, ventilating, and maintaining neck flexion for 6–7 days. Improvement in morbidity and mortality using this method over a 2-year period is shown in comparison with the previous 2 years. The technique was also used successfully in 2 cases of oesophageal atresia without fistula. Offprint requests to: G. A. MacKinlay     

Oesophageal atresia and associated anomalies: a plea for uniform documentation

Although associated congenital anomalies are the most significant factor affecting prognosis in babies with oesophageal atresia (OA), there is considerable variation in the methods by which they have been documented. To facilitate a uniform approach to the reporting of associated anomalies, we have analysed the data from our own experience and studied the methods used by other workers. During the period 1948–1991, 618 patients with OA and/or tracheo-oesophageal fistula were admitted to the Royal Children's Hospital, Melbourne. Concurrent congenital abnormalities were present in 344 (56%), the most frequent being cardiovascular (20.7%); urinary (21.6%); gastrointestinal (22.7%); and orthopaedic (15.7%). Not only have reports of the incidence of associated anomalies in OA involved a wide variety of classifications, but also they have varied in the extent to which co-existent lesions were sought by investigation. These factors, in addition to the criteria used for inclusion and the method of their documentation, have resulted in marked discrepancies in the apparent incidence of specific anomalies, and made valid comparisons between series difficult or impossible. We advocate a simple approach whereby: (1) data should be collected prospectively; (2) routine investigation should include renal ultrasound and echocardiography (as a minimum requirement); (3) the number of associated anomalies should be reported as a percentage of the total cohort of patients, rather than as a percentage of the anomalies themselves; (4) true congenital anomalies should be recorded separately from acquired conditions; and (5) the wide variation in the impact of associated abnormalities on the management and long-term outlook in OA should be recognized. Offprint requests to: N. A. Myers     

Oesophageal atresia,VACTERL association: Fanconi's anaemia related spectrum of anomalies

Oesophageal atresia usually occurs without any genetic background. Three cases associated with Fanconi''s anaemia are reported. One neonate had growth retardation and numerous malformations including oesophageal atresia and four other components of the VACTERL association. In the two others, oesophageal atresia was isolated. In patients with such malformations an early diagnosis of Fanconi''s anaemia may have important genetic and therapeutic implications.

     

Epidemiological and clinical aspects of paediatric HIV infections in Albert-Royer Paediatric Hospital (Dakar, Senegal)]

Human Immunodeficiency Virus (HIV) infection prevalence rate is estimated at 1.4% in Senegal, and about 3,000 children could be infected. HIV positive children are followed up since 2000 in Albert Royer Hospital (Dakar, Senegal). OBJECTIVES: To describe clinical and epidemiological aspects of HIV paediatric infection, and to evaluate the implementation of high active antiretroviral therapy in HIV positive children in our country. POPULATION AND METHODS: Over a period of three years, the medical reports of 98 infected patients have been collected, 96% with HIV 1 infection. RESULTS: Most of the patients had a maternally transmitted HIV infection (99%). At their enrollment, the median age was 60 months; malnutrition (79%), persistent lymphadenopathy (65%) and skin lesions (64%) were the common clinical manifestations. Thirty-nine percent of the patients were in class C (CDC) and 81% had CD4 cell count< or =25%. Median viral load were 421,852 copies/ml at presentation. Seven infants had a rapid progressive disease with encephalopathy. Thirty-six patients received high active antiretroviral therapy with high observance and good tolerance. CONCLUSION: This study allowed to define clinical and biological profile of paediatric HIV infection in our country and to update the implementation of high active antiretroviral therapy.