Aortic atresia with interruption of the aortic arch and an aortopulmonary fistulous tract: Case report

We present a case of interruption of the aortic arch (IAA) in association with aortic atresia. A pulmonary artery to ascending aorta fistulous channel at the level of the sinuses of Valsalva of the pulmonary artery was present and supplied the ascending aorta and coronary arteries. The communication had a significant length, so embryologically it is not an aortopulmonary window. There have been only three reported cases in the literature of IAA with aortic atresia; in none was a pulmonary artery to ascending aorta fistulous tract present.     

Custom-made covered transjugular intrahepatic portosystemic shunt (TIPS) in an infant with trisomy 22 and biliary atresia

We report an 8-month-old girl with portal hypertension secondary to biliary atresia. The decision to treat with TIPS was made at the age of 8 months due to recurrent variceal bleeding. The procedure was carried out with a 6-mm bare stent due to her small size. Radiological follow-up with Doppler US showed gradual stenosis and finally occlusion of the stent 80 days after implantation. Revision was performed with placement of an additional 6-mm expanded polytetrafluoroethylene (e-PTFE) stent-graft that had remained patent for 9 months, proving that in small children with a portal vein diameter less than 8 mm, the combination of a bare stent and stent-graft can provide excellent results.     

Rare association of severe hypoplasia of the abdominal aorta with imperforate anus, colonic atresia, and choledochal cyst

Hypoplasia of the abdominal aorta (HAA) is a rare condition that causes marked hypertension. Although multiple etiologies have been postulated for HAA, congenital structural anomalies are rarely observed except in cases associated with some hereditary syndromes. The authors describe a neonatal case with HAA complicated by multiple anomalies including colonic atresia (CA), imperforate anus, choledochal cyst, facial cleft, and brain defects. This patient showed CA in the descending colon and caliber change in the transverse colon mimicking Hirschsprung disease, both of which were thought to be caused by vascular insult to the mesentery due to HAA. Although multiple surgical corrections were successfully performed, the hypertension was uncontrollable.     

The expression of interleukin-33 in the serum and liver tissue of the patients with biliary atresia

目的 研究胆道闭锁(BA)血清及肝脏组织中白介素-33(IL-33)的表达及意义.方法 选取18例BA与12例无黄疸症状且肝功能正常的胆总管囊肿(CC)患儿血清和肝脏标本进行对比研究.应用酶联免疫吸附试验检测血清中IL-33的表达水平.荧光定量RT-PCR技术和免疫印迹技术分别检测肝脏组织中IL-33 mRNA及蛋白表达水平.结果 BA组血清中IL-33的表达(791.0±22.22)pg/ml明显高于CC组的(607.1±20.68) pg/ml(P＜0.0001);并与γ-谷氨酰转移酶呈正相关(r=0.629,P=0.005).BA组肝组织中IL-33 mRNA表达0.0420±0.0061明显高于CC组的0.0220±0.0027(P=0.0181).BA组肝组织中IL-33蛋白表达0.4683±0.0188亦明显高于CC组的0.3433±0.0293(P=0.0137).结论 IL-33在BA组血清及肝组织中表达均明显升高,可能在BA炎症发生及发展过程中发挥重要作用,值得进一步研究.     

The right-sided aortic arch in children with esophageal atresia and tracheo-esophageal fistula: a repair through the right thoracotomy

Purpose  The management of the esophageal atresia and tracheo-esophageal fistula (EA/TEF) with right-sided aortic arch (RAA) is controversial. The preoperative diagnostic techniques may fail to show RAA associated with EA/TEF. Surgeon may need to make a decision to change the side of thoracotomy. The aim of the current study was to evaluate the possibility of preoperative diagnosis of RAA and the primary anastomosis through right chest. Methods  A retrospective review was performed in EA/TEF patients between February 2001 and 2008. A total of 79 patients (35 female, 44 male) with EA/TEF were reviewed. Eleven (13%) patients (5 female, 6 male) had an RAA. Echocardiography was performed in 10 of 11 patients with RAA. The chest was accessed through the right side in all patients. Results  The incidence of RAA was found to be higher in our study than previous studies (13%). Right thoracotomy was performed successfully in all patients. Three patients died due to multiple congenital anomalies and 1 patient due to bleeding postoperatively. Five of 10 had normal echocardiography findings. Only one patient with RAA has been successfully diagnosed by preoperative echocardiographic examination. Seven patients had no complication after operation. Their follow-up was uneventful. Conclusion  Preoperative recognition of RAA with echocardiography is unlikely in patients with EA/TEF but the presence of RAA does not decrease the success rate of EA/TEF repair through the right thoracotomy.     

The frequency, significance, and management of a right aortic arch in association with esophageal atresia

An unrecognised right aortic arch (RAA) found at thoracotomy may complicate the repair of oesophageal atresia (OA) and tracheo-oesophageal fistula (TOF). This paper analyses the patient characteristics, peri-operative management, and outcome of 16 infants with a RAA, and proposes management guidelines. Between 1948 and 1996, 709 patients with OA/TOF were admitted to the Royal Children's Hospital, of whom 13 had a RAA. Three additional cases from two other paediatric surgical units were included. All 16 case records were reviewed retrospectively. The overall incidence of RAA in OA was 1.8%. Neither a chest radiograph in 16, nor antenatal ultrasonography in 7 detected a RAA. Post-natal echocardiography (ECHG) detected a RAA in only 1 of 7 infants examined; that patient underwent repair of the OA through a left (L) thoracotomy. The other 15 infants underwent initial right (R) thoracotomy. Six of these had a complete repair from the R side and 5 had division of the fistula only; 2 of these 5 had initial division of the fistula, and the OA was repaired through a repeat R thoracotomy 4 and 7 weeks later. In the remaining 4 infants where the fistula could not be located at the initial R thoracotomy, complete repair proved possible through the L chest. Three of these infants underwent an immediate L thoracotomy; the 4th had a delayed L thoracotomy 1 week later. There were 6 deaths: these occurred early in the study and were related to severe prematurity, congenital heart disease (CHD), and post-operative respiratory complications. CHD was identified in 11 of 16 infants (71%). Routine pre-operative ECHG is unreliable in determining the laterality of the aortic arch. Should a RAA be encountered during a R thoracotomy for OA, it is often possible to divide the fistula and repair the OA from that side, but where repair looks potentially difficult it is wise to proceed to an immediate L thoracotomy.     

Effect of liver transplantation on multiple bone fractures in an infant with end-stage biliary atresia: a case report

Osteodystrophy is frequently found in children with chronic cholestatic liver disease. We herein report an end-stage case of biliary atresia that was associated with multiple bone fractures and severe growth retardation. The patient, an 8-month-old female, underwent a living-related liver transplantation and thereafter showed a dramatic improvement in growth and decrease in bone fractures. A correction of the liver function is therefore considered to be a key factor in treating osteodystrophy that is related to chronic cholestatic liver disease. It is also essential to perform liver transplantation at the most appropriate time to enhance and support the growth of these patients.     

VACTERL anomalies in patients with esophageal atresia: an updated delineation of the spectrum and review of the literature

The VACTERL complex refers to anomalies of the bony spinal column (V), atresias in the gastrointestinal tract (A), congenital heart lesions (C), tracheoesophageal defects (TE), renal and distal urinary tract anomalies (R) and limb lesions (L). The incidence of each of these components has not been precisely quantified in the recent literature and the full array of anomalies within each systemic class of the VACTERL complex has not been well described. Therefore, we reviewed our most recent 20-year experience of patients born with esophageal atresia to comprehensively delineate and accurately describe the type and incidence of associated lesions. A retrospective review was then conducted on all patients diagnosed with esophageal atresia between 1985 and 2005. Patient demographics recorded included gestational age, weight and gender. The specific types of lesions were carefully cataloged. The outcome measure recorded was survival. One hundred and twelve patients were diagnosed with esophageal atresia were identified during the study period. The gestational age range was 28-41 weeks with an average of 36.5 weeks. Average birth weight was 2,557 g (range 1,107-3,890). A male predominance was seen with 62 males and 50 females. The overall survival was 92.9%. The categorical breakdown of anomalies were vertebral (24.1%), atresia (14.3%), cardiac (32.1%), tracheoesophageal fistula (95.5%), urinary (17.0%), skeletal (16.1%) and other (10.8%). VACTERL anomalies are common in patients with esophageal atresia, however, they appear to have little impact on overall survival.     

Congenital deformities and developmental abnormalities of the mandibular condyle in the temporomandibular joint

The temporomandibular joint (TMJ) consists of the mandibular condyle and the articular eminence of the temporal bone. The morphological development of the TMJ during prenatal life lags behind other joints in terms of both the timing of its appearance and its progress. At birth, the joint is still largely underdeveloped. There are many causes of the various growth disturbances and abnormalities of the mandibular condyle and related structures. Growth disturbances in the development of the mandibular condyle may occur in utero late in the first trimester and may result in disorders such as aplasia or hypoplasia of the mandibular condyle. Meanwhile, hyperplasia of the mandibular condyle is not visible at birth and seems to be gradually acquired during growth. In the present review article, the congenital abnormalities of the mandibular condyle are classified morphologically into three major groups and two subgroups from a clinical standpoint: (1) hypoplasia or aplasia of the mandibular condyle, including (i) primary condylar aplasia and hypoplasia, (ii) secondary condylar hypoplasia; (2) hyperplasia; and (3) bifidity. In addition, the molecular-based etiology of anomalies of the mandibular condyle is also discussed.     

Oesophageal atresia in premature infants: an analysis of morbidity and mortality over a period of 20 years

AIM: To determine the morbidity and mortality of premature infants born with oesophageal atresia (OA) and to evaluate historical changes in morbidity and mortality over time. METHODS: Retrospective analysis of morbidity and mortality of all patients admitted for OA, with or without tracheo-oesophageal fistula, between 1982 and 2002. RESULTS: The study group consisted of 197 consecutive patients, of whom 55 (28%) were premature and 21 (11%) very premature. Type A atresia was found more often in very premature and premature infants than in those born at term (p = 0.02). Type E atresia was not found in the premature group (p = 0.004). At least one associated congenital anomaly was also present in 121 patients (61%). Postoperative complications developed more often in very premature and premature infants than in those born at term (p < 0.001). Gastro-oesophageal reflux was diagnosed in 32/76 premature infants and in 41/121 term infants (p = 0.001). Mortality among very premature and premature infants was higher than among those born at term (p = 0.003). Withdrawal of treatment was the most frequent cause of death. CONCLUSION: Premature infants with OA have a higher morbidity and mortality than term infants with OA. The complications of prematurity contribute significantly to morbidity and mortality in premature infants with OA. There is no reason to refrain from the standard treatment of OA in premature infants with no severe associated congenital anomalies.     

Anomalous ascending aorta causing severe compression of the left bronchus in an infant with ventricular septal defect and pulmonary atresia

Tracheobronchial compression by cardiovascular structures complicates the course after surgery of congenital heart disease. A 2-month-old boy with ventricular septal defect, pulmonary atresia, and velocardiofacial syndrome had severe left main bronchus obstruction due to external compression by an anomalously oriented ascending aorta. The patient’s hypoxemic episodes necessitated extracorporeal membrane oxygenation. We inserted a stent in the left bronchus to open the airway, but the stent was crushed by the anomalous aorta. We later surgically rerouted the aorta and finally restored the patency of the left main bronchus. However, the patient died of fungemia, without being weaned from extracorporeal membrane oxygenation. We conclude that surgery is necessary instead of stent implantation to relieve the external compression of the left bronchus from a vessel with systemic arterial pressure.     

Temporary transgastric fistula occlusion as salvage procedure in neonates with esophageal atresia with wide distal fistula and moderate to severe pneumonia

A method to achieve distal fistula occlusion by inflating the balloon of a catheter placed at the gastroesophageal junction via a transgastric route was tried in seven consecutive neonates with esophageal atresia and wide distal fistula. Due to associated moderate or severe pneumonia, these infants were at poor anesthetic risk for the definitive repair. The procedure was done under local anesthesia with mild sedation and took an average of half an hour for completion. Another feeding tube was negotiated through another gastrotomy across the pylorus to allow early enteral feeds. Temporary transgastric fistula occlusion (TTFO) allowed better ventilation of the hypocompliant lungs (by increasing resistance at the fistulous end), prevented lung injury due to aspiration of the refluxing gastric juices, and facilitated optimal ventilation by preventing epigastric distension. All study subjects survived this procedure except for one of our earlier study subjects who died of massive pneumothorax that was a procedure-related complication. None of the remaining subjects required mechanical ventilation either after TTFO or after the definitive esophageal repair that was carried out 5–7 days subsequent to TTFO, except for one other neonate with right lung aplasia who began deteriorating 48 h after thoracotomy and died of cardiac failure. There were no anastomosis-related problems among the survivors over a 12-month follow-up. The gratifying results of our study prompt us to suggest that this procedure deserves attention, and its role should be explored for salvaging neonates with type C esophageal atresia with wide fistula and pneumonia in developing countries with few neonatal intensive care services.     

Use of Vicryl mesh to support the esophageal wall after circular myotomy (Livaditis procedure) in long-gap esophageal atresia — an experimental study

Circular esophageal myotomy (CEM) is currently a well-accepted technique for elongation of the upper esophageal pouch in cases of long-gap esophageal atresia (EA). Esophageal pseudodiverticulum is a frequent and perhaps underreported sequela of this technique, characterized by ballooning or outpouching of the esophageal mucosa in the myotomized area. The present study was designed to seek a supplement for the CEM technique in order to avoid possible pseudodiverticulum formation in the myotomized area. We created an animal model to simulate the anatomic conditions present after primary repair of EA facilitated by CEM. Three groups of dogs underwent either cervical (1 group) or thoracic (2 groups) esophageal myectomy. In the cervical and first thoracic groups, the denuded mucosa was left without any support. In the second thoracic group, the denuded mucosal area was wrapped with polyglactin 910 (Vicryl) mesh. In all three groups the esophagus was narrowed by a Marlex mesh ring 3 cm distal to the myectomized zone, simulating a condition resulting from anastomotic narrowing. The dogs underwent barium swallows under fluoroscopy at different postoperative periods and were killed 4 or 6 months after surgery. The esophagi were removed for gross and radiologic investigation under maximal insufflation as well as for histologic assessment. The proposed canine model proved to be useful for study of the myectomized esophagus, mimicking the anatomy and conditions after CEM in long-gap EA repair. Wrapping the denuded mucosa with Vicryl mesh fortified the weakened esophageal wall, thus diminishing the likelihood of future pseudodiverticulum development. In light of the simplicity of the technique and the absence of any evident risk or complications, we recommend that the use of Vicryl mesh wrap be considered during CEM to reinforce the esophageal wall.Supported by the Slezak Fund for Experimental Surgery (Grant #01370791)     

Successful treatment of severe refractory anastomotic stricture in an infant after esophageal atresia repair by endoscopic balloon dilation combined with systemic administration of dexamethasone

A boy with a history of esophageal atresia repair received an esophagoesophagostomy at 14 months for a severe refractory anastomotic stricture, which had already required repeated balloon dilation with intralesional dexamethasone injection. Anastomotic leakage and stricture was again evident after the second surgery, and the patient underwent five procedures of balloon dilations with intralesional dexamethasone injection. Dysphagia was persistent and the patient required dilation every 2–3 weeks. After the sixth dilation, the patient was given 1 mg/kg per day of dexamethasone i.v. for 3 days. Dexamethasone i.v. was tapered during the following 3 days and finished at day 6. A week later, endoscopic findings showed an apparent improvement in the stricture. Another dilation was followed by 1 mg/kg per day dexamethasone i.v. for 7 days, and 0.75 kg/mg per day oral dexamethasone for another 7 days. The stricture improved completely and the anastomosis was patent after the second dilation. The patient is doing well without dysphagia and has not required additional dilation for over 18 months after the last dilation. Balloon dilation in combination with systemic dexamethasone administration may be an effective treatment that could substitute invasive techniques including surgical manipulation for severe refractory strictures.     

Metastatic neuroblastoma in an infant: Translocation (1;11), deletion (2) and double minute chromosomes

An extensive chromosomal analysis was performed in cells of primary tumour and bone marrow metastases from an 8-month-old girl with disseminated neuroblastoma prior to therapy. A modal chromosome number of 46 was found. Consistent abnormalities in the karyotype were seen: in particular, a translocation (1;11), a deletion (2)(p21) and a chromosome 7p+. Furthermore, double minute chromosomes of two distinct sizes were found in 50%–80% of metaphases in the cell populations examined. These extra chromosomal double minutes might be the cytogenetic form of amplified cellular oncogene-DNA.Part of F. Franke's doctoral thesis     

Hypoalbuminemia, oliguria and peripheral cyanosis in an infant with severe atopic dermatitis

A six-month old male infant with severe atopic dermatitis was admitted with hypoalbuminemia, oliguria and cyanosis of the extremitie. s. There was marked edema and generalized eczema with foul, yellowish exudates. The patient's major clinical manifestations were attributed to the loss of albumin through the skin. Although atopic dermatitis is a common disease in children, here we want to show that systemic disturbances may arise from such condition, describe the total care given the patient, and emphasize the wholistic approach in managing cases of severe atopic dermatitis, intensive treatment was instituted and the patient was discharged after three weeks and remained in a stable condition.     

Persistence of hypoplastic and recoarcted fifth aortic arch associated with type A aortic arch interruption: Surgical and balloon angioplasty results in an infant

Summary A rare aortic malformation, the persistence of the fifth aortic arch (PFAA) associated with coarctation of the aorta, is reported in a 3-month-old male infant who underwent an emergency surgical intervention at 10 days of life, to relieve a severe aortic coarctation by pericardial patch technique.A successful balloon angioplasty was performed 2 months later eliminating a recoarctation. The gradient fell from 77 mmHg to 0, but a definitive surgical intervention for recoarctation was necessary 14 months after angioplasty.