To study the clinical profile of the cases of esophageal atresia (EA) and/or tracheoesophageal fistula (TEF) and various factors affecting the surgical and early postoperative management and their outcome.
Materials and Methods:
A prospective analysis of 127 cases of EA from February 2004 to May 2006 was performed. Waterston prognostic criteria were used for grading.
EA with TEF was the commonest type in 117 cases (92%). Associated congenital anomalies were present in 52 (41%) patients, the commonest being the cardiac anomalies, which was followed by the gastrointestinal anomalies. VACTERL was found in 6 (5%) cases. Prematurity, associated congenital anomalies, gap between esophageal ends and preoperative respiratory status were the significant factors affecting the survival (P = < 0.001). Primary extrapleural repair was the surgical approach in most of the patients. Azygos vein was preserved in 46 cases and no retropleural drainage was used in 27 cases. Staged procedures were performed in 19 cases, including 6 cases of isolated esophageal atresia. Pneumonitis and sepsis were the most common early postoperative complications (42%). Hypoxia and cardiorespiratory arrest were the most common causes of mortality (11 cases). Anastomotic leak complicated 13 cases, including 9 major and 4 minor leaks. Major leak followed by sepsis caused 7 deaths. Survival as per Waterston criteria was 100% in group A, 83% in group B and 22% in group C.
Factors affecting the survival are major or life-threatening associated anomalies, long gap, pneumonia and sepsis at presentation or that acquired during hospitalization and major leaks. The high incidence of low birth weight, delayed diagnosis, poor referral, low-socio economic status and lack of advanced neonatological back up are important contributory factors to poor outcome.
Associated anomalies; esophageal atresia; prognosis; tracheoesophageal fistula
Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is the most common congenital anomaly of the esophagus. The improvement of survival observed over the previous two decades is multifactorial and largely attributable to advances in neonatal intensive care, neonatal anesthesia, ventilatory and nutritional support, antibiotics, early surgical intervention, surgical materials and techniques. Indeed, mortality is currently limited to those cases with coexisting severe life-threatening anomalies. The diagnosis of EA is most commonly made during the first 24 h of life but may occur either antenatally or may be delayed. The primary surgical correction for EA and TEF is the best option in the absence of severe malformations. There is no ideal replacement for the esophagus and the optimal surgical treatment for patients with long-gap EA is still controversial. The primary complications during the postoperative period are leak and stenosis of the anastomosis, gastro-esophageal reflux, esophageal dysmotility, fistula recurrence, respiratory disorders and deformities of the thoracic wall. Data regarding long-term outcomes and follow-ups are limited for patients following EA/TEF repair. The determination of the risk factors for the complicated evolution following EA/TEF repair may positively impact long-term prognoses. Much remains to be studied regarding this condition. This manuscript provides a literature review of the current knowledge regarding EA.
Esophageal atresia; Tracheoesophageal fistula; Esophageal stenosis; Long-gap; Gastro-esophageal reflux
Severe tracheal stenosis, resulting in functional atresia of the trachea is a rare congenital malformation with an estimated occurrence of two in 100,000 newborns. If no esophagotracheal fistula is present to allow for spontaneous breathing, this condition is usually fatal. We report on a male infant born at 32 weeks of gestation. The patient presented with respiratory distress immediately after delivery due to severe congenital tracheal stenosis resulting in functional atresia of the trachea. Endotracheal intubation failed and even emergency tracheotomy did not allow ventilation of the patient lungs. The patient finally succumbed to prolonged hypoxia due to functional tracheal atresia. The etiology of tracheal atresia and tracheal stenosis is still unclear, but both conditions are frequently combined with other anomalies of the VACTERL (vertebral anomalies, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal/radial anomalies and limb defects) and TACRD (tracheal agenesis, cardiac, renal and duodenal malformations) association. Conclusion Successful treatment of severe congenital tracheal stenosis and tracheal atresia depends on either prenatal diagnosis or recognition of this condition immediately after birth to perform tracheotomy without delay. Nevertheless, despite any efforts, the therapeutical results of severe tracheal stenosis and tracheal atresia are still unsatisfactory.
Congenital tracheal stenosis; Neonate; Respiratory failure; VACTERL association
AIM: To assess the application of multiple planar volume reconstruction (MPVR) and three-dimensional (3D) transparency lung volume rendering (TL-VR) with 64-row multidetector-row computed tomography (MDCT) in neonates with congenital esophageal atresia (EA) and distal tracheoesophageal fistula (TEF).
METHODS: Twenty neonates (17 boys, 3 girls) with EA and distal TEF at a mean age of 4.6 d (range 1-16 d) were enrolled in this study. A helical scan of 64-row MDCT was performed at the 64 mm × 0.625 mm collimation. EA and TEF were reconstructed with MPVR and TL-VR, respectively. Initial diagnosis of EA was made by chest radiography showing the inserted catheter in the proximal blind-ended esophageal pouch. Manifestations of MDCT images were compared with the findings at surgery.
RESULTS: MDCT showed the proximal and distal esophageal pouches in 20 cases. No significant difference was observed in gaps between the proximal and distal esophageal pouches detected by MPVR and TL-VR. The lengths of gaps between the proximal and distal esophageal pouches detected by MPVR and TL-VR correlated well with the findings at surgery (R = 0.87, P < 0.001). The images of MPVR revealed the orifice of TEF in 13 cases, while TL-VR images showed the orifice of TEF in 4 cases.
CONCLUSION: EA and distal TEF can be reconstructed using MPVR and TL-VR of 64-row MDCT, which is a noninvasive technique to demonstrate the distal esophageal pouches and inter-pouch distance in neonates with EA and distal TEF.
Children; Computed tomography; Congenital malformation; Esophagus; Tracheoesophageal fistula
Waterston et al. have classified the risk of morbidity in infants with esophageal atresia and tracheoesophageal fistula. However, few cases of esophageal atresia with distal tracheoesophageal fistula in extremely low birth weights infants have been reported. In such infants, the selection of primary reconstruction or staged repair remains controversial. In the present report, we describe the difficulties of perioperative management of such small infants and discuss how to rescue them.
PRESENTATION OF CASE
A 471-g female infant was delivered at 28 weeks’ gestation via cesarean section. Esophageal atresia with distal tracheoesophageal fistula was diagnosed. Esophageal banding and gastrostomy were performed via laparotomy on day 1. On day 74, when the infant weighed almost 1000 g, airway management was discontinued. On day 136, endotracheal intubation again became necessary because of respiratory problems, and the esophagus was reconstructed on day 141. Despite this operation, the patient died on day 276 because of continuing respiratory problems.
Esophageal banding is considered an appropriate treatment for respiratory problems in such extremely low weight infants. However, the timing of dissection of the tracheoesophageal fistula after esophageal banding is extremely important.
In the present case, ligation of the tracheoesophageal fistula and esophageal reconstruction should have been performed as soon as possible.
Esophageal atresia; Extremely low weight infants; Esophageal banding
Tracheoesophageal fistula (TEF) is a rare congenital anomaly with chronic morbidities. Aside from health care costs, the authors suspected that additional burden rests on the family due to hospitalizations, radiological and surgical procedures, and frequent outpatient visits. It was speculated that this complex care is poorly coordinated. The objective of the present study was to document utilization and coordination of health care services for children with TEF at the Alberta Children’s Hospital (Calgary, Alberta).
Medical records of children with TEF (primary surgical repair at Alberta Children’s Hospital between April 1994 and September 1999) were reviewed for demographics, TEF type, associated anomalies, age at diagnosis and repair, health services utilization data, and radiological and surgical procedures.
Twenty-two children were identified, of whom 18 survived beyond one year. Ten of these 18 children were male. Average gestational age and birth weight were 37.4 weeks (range 32 to 42 weeks) and 2512 g (range 780 g to 3950 g), respectively. Seventy-eight per cent of children had at least one associated anomaly. Median initial hospital and intensive care unit stays were 27.5 days and 12 days, respectively. During year 1 of life, there was a median of 31 radiological examinations, five surgical procedures, 2.5 hospital admissions and five outpatient clinic visits. Coordination of procedures and outpatient visits was poor. In year 2 of life, children had fewer procedures, admissions and outpatient visits; between years 2 and 5, procedures or admissions were rare.
Children with TEF endure multiple procedures and lengthy hospital admissions in early life. There was easy access to, but minimal coordination of, subspecialist care, procedures and admissions. A dedicated multidisciplinary clinic for children with TEF should improve care.
Child; Chronic disease; Delivery of health care; Tracheoesophageal fistula
To determine the clinical manifestations and outcomes of patients with tracheoesophageal fistula (TEF) and esophageal atresia (EA) born at a single neonatal intensive care unit.
A retrospective analysis was conducted for 97 patients with confirmed TEF and EA who were admitted to the neonatal intensive care unit between 1990 and 2007.
The rate of prenatal diagnosis was 12%. The average gestational age and birth weight were 37+2 weeks and 2.5±0.7 kg, respectively. Thirty-one infants were born prematurely (32%). Type C was the most common. The mean gap between the proximal and distal esophagus was 2 cm. Esophago-esophagostomy was performed in 72 patients at a mean age of 4 days after birth; gastrostomy or duodenostomy were performed in 8 patients. Forty patients exhibited vertebral, anorectal, cardiac, tracheoesophageal, renal, limb (VACTERL) association with at least 2 combined anomalies, and cardiac anomaly was the most common. The most common post-operative complications were esophageal stricture followed by gastroesophageal reflux. Balloon dilatation was performed for 1.3 times in 26 patients at a mean age of 3 months. The mortality and morbidity rates were 24% and 67%, respectively, and the most common cause of death was sepsis. The weight of approximately 40% patients was below the 10th percentile at 2 years of age.
Mortality and morbidity rates of patients with TEF and EA are high as compared to those of infants with other neonatal surgical diseases. Further efforts must be taken to reduce mortality and morbidity and improve growth retardation.
Tracheoesophageal fistula; Esophageal atresia; VACTERL association; Mortality; Morbidity; Growth
To analyze whether outcome of neonates having esophageal atresia with or without tracheoesophageal fistula (EA±TEF) associated with anorectal malformation (ARM) can be improved by doing surgery in 2 stages.
Materials and Methods:
A prospective study of neonates having both EA±TEF and ARM from 2004 to 2011. The patients with favorable parameters were operated in a single stage, whereas others underwent first-stage decompression surgery for ARM. Thereafter, once septicemia was under control and ventilator care available, second-stage surgery for EA±TEF was performed.
Total 70 neonates (single stage = 20, 2 stages = 30, expired after colostomy = 9, only EA±TEF repair needed = 11) were enrolled. The admission rate for this association was 1 per 290. Forty-one percent (24/70) neonates had VACTERL association and 8.6% (6/70) neonates had multiple gastrointestinal atresias. Sepsis screen was positive in 71.4% (50/70). The survival was 45% (9/20) in neonates operated in a single stage and 53.3% (16/30) when operated in 2 stages (P = 0.04). Data analysis of 50 patients revealed that the survived neonates had significantly better birth weight, better gestational age, negative sepsis screen, no cardiac diseases, no pneumonia, and 2-stage surgery (P value 0.002, 0.003, 0.02, 0.02, 0.04, and 0.04, respectively). The day of presentation and abdominal distension had no significant effect (P value 0.06 and 0.06, respectively). This was further supported by stepwise logistic regression analysis.
In a limited resources scenario, the survival rate of babies with this association can be improved by treating ARM first and then for EA±TEF in second stage, once mechanical ventilator care became available and sepsis was under control.
Anorectal malformation; esophageal atresia; neonatal intensive care; tracheoesophageal fistula
With the present-day development and understanding of anesthetic methods, fluid and electrolyte therapy, antibiotic medications and pediatric care, many congenital anomalies once uniformly fatal are now being successfully treated by emergency operations in the neonatal period. The eight most common of these which demand emergency operation in the immediate postnatal period are esophageal atresia and tracheoesophageal fistula, diaphragmatic hernia with dislocation of the abdominal viscera into the chest, malrotation of the intestine with obstruction, intestinal atresia, meconium ileus, imperforate anus, omphalocele and myelomeningocele.
Although infants born with any of these serious problems often are born prematurely and often have more than one congenital anomaly, survival rates in the surgical treatment of these conditions are steadily improving. Early diagnosis and prompt treatment are the most important factors in the continued improvement of these survival rates.
Predicting the presence of long-gap esophageal atresia (EA) prior to the surgery is of clinical importance. No comparison between short-gap and long-gap EA for the prevalence of VACTERL and non-VACTERL-type anomalies has yet been performed.
The aim of this study was to compare VACTERL and non-VACTERL-type anomalies between patients with short-gap and long-gap EA.
Retrospectively, medical records of all newborns managed for EA/tracheoesophageal fistula (TEF) in Tabriz Children’s Hospital and Tehran Mofid Hospital between 2007 and 2010 were evaluated. Demographic data and associated anomalies including both the VACTERL and non-VACTERL-type defects were listed. The VACTERL spectrum defects covered vertebral/costal, anorectal, cardiovascular, TEF, and renal- or radial-type limb anomalies. The non-VACTERL-type anomalies included hydrocephalus, orofacial defects, respiratory system anomalies, gastrointestinal anomalies, genital anomalies, and non-VACTERL limb defects. Demographic data, and the VACTERL and non-VACTERL-type anomalies were compared among children with long-gap EA and those with short-gap EA.
Two hundred and seventy-six children were included in the study: 230 (83.3%) in the short-gap EA group and 46 (16.7%) in the long-gap EA group. Although prevalence of the VACTERL spectrum anomalies did not differ between the two groups, the non-VACTERL anomaly was more common in the long-gap EA group (P = 0.02). Among the VACTERL-type defects, TEF was detected in 30 (65.2%) and 218 (94.7%) patients in long-gap and short-gap EA groups, respectively (P = 0.0001).
The non-VACTERL-type anomalies, but not the VACTERL spectrum defects, are more frequent in patients with long-gap EA than those with short-gap EA.
esophageal atresia; short-gap; long-gap; tracheoesophageal fistula; anomaly; VACTERL
Tracheoesophageal fistula (TEF) in adults occurs as a result of trauma, malignancy, cuff-induced tracheal necrosis from prolonged mechanical ventilation, traumatic endotracheal intubation, foreign body ingestion, prolonged presence of rigid nasogastric tube, and surgical complication. Anesthetic management for repair of TEF is a challenge. Challenges include difficulties in oxygenation or ventilation resulting from placement of endotracheal tube in or above the fistula; large fistula defect causing loss of tidal volume with subsequent gastric dilatation, atelactasis, and maintenance of one lung ventilation. The most common cause of acquired nonmalignant TEF is postintubation fistula, which develops after prolonged intubation for ventilatory support. Acquired TEF, which occurs after prolonged intubation, usually develops after 12–200 days of mechanical ventilation, with a mean of 42 days. We present a rare case of TEF that developed after 7 days of intubation. It was a difficult case to be diagnosed as patient had a history of polytrauma, followed by emergency intubation and both these conditions can contribute to tracheobronchial injury.
Mechanical ventilation; postoperative; tracheosophageal fistula
Congenital H-type tracheoesophageal fistula (TEF) in adults is a rare presentation and can test the diagnostic acumen of a surgeon, endoscopist, and the radiologist. These undetected fistulas may present as chronic lung disease of unknown origin because repeated aspirations can lead to recurrent lung infections and bronchiectasis. Congenital TEFs should be considered in the diagnosis of infants and young adults with recurrent respiratory distress and/or infections. Here, we present the successful management of this rare case in an adult patient.
Adult; congenital tracheoesophageal fistula; late presentation
Tracheoesophageal fistula is a life threatening condition. Patients not managed surgically ultimately die of their disease. Surgical management is the treatment of choice. We present a case of a patient that developed a tracheoesophageal fistula after tracheostomy. Surgical repair was done which failed due to infection. The patient was managed with the help of an esophageal stent and Trichloroacetic Acid cautery. This approach can be used in selected patients, depending upon the size and site of TEE Larger fistulae and those situated lower down e.g. supra carinal cannot be managed by this technique.
Tracheoesophageal fistula(TEF); Tracheostomy; Nasogastric tube; esophageal stent; trichloroacetic Acid (TCA)
Surgical glues have been used in pediatric surgery because of the fragility of tissue, and to prevent major surgeries. The present report describes our experience with using a new cyanoacrylate Glubran 2 (Viareggio, Italy) in the treatment of five cases of tracheoesophageal atresia with fistula (one fistula protection, three recurrent fistula, and one unstable patients), two cases of hypospadias, one case of vesicutanouse fistula after bladder extrophy, and one case of cloacal extrophy from January–December 2008. Three cases of recurrent tracheoesophageal atresia with fistula were treated by bronchoscpic glue injection. The other two cases benefited from glue through its ability to plug the fistula and to act as a protecting layer on anastomosis. In two cases with hypospadias excessive use of the glue caused skin necrosis, which was repaired. The wounds of cloacal extrophy were protected from nearby colostomy contamination and infection, and the vesicocutanouse fistula was closed by deepithelialization and sealing with glue. Based on the outcomes of the cases, it may be possible to suggest that Glubran 2 may be used safely in Pediatric Surgery as a sealant for the prevention and treatment of fistulas.
Glubran 2; surgical glues; tracheoesophageal atresia with fistula; hypospadias; fistula
The VATER/VACTERL association is a syndrome notable for congenital vertebral malformations, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, and renal or limb malformations. Vertebral malformations may include the entire spectrum of congenital spinal deformities, including kyphosis, as was seen in this case. A 14-year-old girl presented to our institution with severe rigid sagittal deformity in the thoracolumbar spine that had recurred following three prior spinal fusion surgeries: the first posterior only, the second anterior and posterior, and the third a posterior only proximal extension. These surgeries were performed to control progressive kyphosis from a complex failure of segmentation that resulted in a 66° kyphosis from T11 to L3 by the time she was 9 years old. Our evaluation revealed solid arthrodesis from the most recent procedures with resultant sagittal imbalance, and surgical options to restore balance included anterior and posterior revision spinal fusion with osteotomies, multiple posterior extension osteotomies with circumferential spine fusion, and posterior vertebral column resection with circumferential spine fusion. She was advised that multiple posterior extension osteotomies would likely be insufficient to restore sagittal balance in the setting of solid arthrodesis from anterior and posterior surgery, and that the posterior-only vertebral column resection would provide results equivalent to revision anterior and posterior surgery, without the morbidity of the anterior approach. She successfully underwent posterior vertebrectomy and circumferential spinal fusion with instrumentation and is doing well 2 years postoperatively. Severe rigid sagittal deformity can be effectively managed with a posterior-only surgical approach, vertebrectomy, and circumferential spinal fusion with instrumentation.
VATER; VACTERL; kyphosis; kyphectomy; spinal deformity; recurrent
Ingestion of disk batteries may have serious complications such as esophageal burn, perforation, and tracheoesophageal fistula, particularly when the battery is caught in the esophagus. Proper placement of the tracheal tube is critical when tracheoesophageal fistula was occurred from esophageal impaction the battery. Endoscopy of upper gastrointestinal tract in infants and children is an important and effective tool for the diagnosis and treatment of foreign body ingestion. But upper gastrointestinal endoscopy in infant and children has very high risk of tracheal compression and airway compromise. We present a case of ventilatory compromise during insertion of the upper gastrointestinal endoscopy in 16-month-old child with tracheoesophageal fistula secondary to disk battery ingestion.
Disk battery ingestion; Gastrointestinal endoscopy; Tracheoesophageal fistula; Ventilatory compromise
Esophageal atresia and tracheoesophageal fistula (EA/TEF) are major congenital malformations affecting 1:3500 live births. Current research efforts are focused on understanding the etiology of these defects. We describe well-known animal models, human syndromes, and associations involving EA/TEF, indicating its etiologically heterogeneous nature. Recent advances in genotyping technology and in knowledge of human genetic variation will improve clinical counseling on etiologic factors. This review provides a clinical summary of environmental and genetic factors involved in EA/TEF.
Congenital anomaly; Foregut; VACTERL; Feingold syndrome; CHARGE syndrome; AEG syndrome; Genes
Forty-eight cases of esophageal atresia and tracheoesophageal fistula observed at the University of California Medical Center, San Francisco, over a 25-year period (1937-1961) were reviewed. Four of the patients were born at the University of California Hospitals, a frequency of 1 in 6,823 births. In 43 of the 44 referred cases, the referring physician established the diagnosis before admission by passing a tube into the blind esophagus or by radiography.
Survival rates are comparable to those of other medical centers and emphasize the importance of prompt diagnosis, skillful repair and meticulous preoperative and postoperative care.
Acquired tracheoesophageal fistula through esophageal diverticulum is infrequent. We report tracheoesophageal fistula through esophageal diverticulum in a 55-year-old male who had a prolonged tracheostomy tube during 6 months, and a NG tube during 18 months. He suffered from recurrent pneumonia. He complained of a cough associated with eating, and production of sputum mixed with food. To help evaluate the aspiration to the lung and the cause of aspiration, he was tested using gastrointestinal scintigraphy (gastric emptying study), a chest CT scan (pre & post contrast), and esophagoduodenoscopy. The chest CT scan revealed an acquired tracheoesophageal fistula through esophageal diverticulum, and esophagoduodenoscopy revealed a 3 mm sized fistula that was located -33 cm from the upper incisor. We treated the tracheoesophageal fistula by clipping under esophagoduodenoscopy. The symptoms of fever, cough, and aspiration were no long observed after the clipping was completed.
Tracheoesophageal fistula; Diverticulum; Tracheostomy
Anastomotic strictures are common and important problems following repair procedures of esophageal atresia. We hereby defined an anastomosis technique that could efficiently prevent this complication in 11 patients with esophageal atresia (EA) and tracheoesophageal fistula (TEF). The proximal end of the atretic esophagus was opened with a plus (“+”)-shaped incision providing sufficient anastomosis width. Longitudinal incisions of 2 mm length were made on the anterior and posterior parts of the distal end according to the patients. The two ends were anastomosed with a primary suture at a single plain. We performed this technique on 11 patients, and in the 4-year follow-up period no dilatation proved necessary in any of our patients due to anastomotic strictures or symptomatic dysphagia. This technique that we have described provides a large zigzag anastomosis line and in this way minimizes the incidence of stricture formation. Furthermore, this technique, which we believe to have provided a new opinion on the topic of how to open the proximal end of an atretic esophagus, is quite easy and effective.
A case of acquired tracheoesophageal fistula (TEF) is presented in a 44-year-old female who presented with acute respiratory failure due to bilateral aspiration pneumonia. The patient had persistent air leak while on mechanical ventilation and underwent bronchoscopy which revealed the above etiology. Histopathology showed Barrett’s esophagitis. The patient underwent primary closure followed by a short course of proton pump inhibitors. There are only two prior reported cases of acquired TEF associated with Barrett’s esophagitis. This condition should be taken under consideration when investigating of an explained persistent air leak in a mechanically ventilated patient.
Malignant tracheoesophageal fistula occurs infrequently in patients with irradiated esophageal and lung cancer, uncommonly in patients with untreated mediastinal malignancies, infection, or trauma, and rarely in primary adenocarcinoma of the lung. The natural progression of this entity leads to rapid deterioration and death from overwhelming pulmonary infection.
Definitive treatment depends on the demonstration and localization of the fistula. Computerized tomography (CT) chest scanning with dilute oral contrast is the ideal means of identification of the fistula. CT scanning without contrast may outline sufficiently the pathology to avoid the usage and side effects of contrast media in the lungs.
A review of one case of tracheoesophageal fistula due to pulmonary adenocarcinoma is presented where emergency CT scanning without contrast resulted in rapid and accurate diagnosis, leading to prompt and appropriate management.
A review of the experience with esophageal atresia and tracheoesophageal fistula over a 25-year period appears to lead to the advisability of the following procedures in surgical management:
• Emergency gastrostomy under local anesthesia in all patients.
• Extrapleural interruption of tracheo-esophageal fistula and end-to-end esophago-esophagostomy in patients who have the common type of upper esophageal atresia with distal tracheo-esophageal fistula.
• Upper esophageal stretching and eventual esophago-esophagostomy in patients with proximal and distal esophageal atresia with or without proximal tracheo-esophageal fistula.
Tracheal agenesis (TA) is a severe congenital disorder with often an unexpected emergency presentation. There is complete or partial absence of the trachea below the larynx, with presence or absence of a tracheoesophageal fistula (TOF). A neonate with TA is described, and another 48 cases found in literature are reviewed. Due to absence of a TOF, five cases were diagnosed prenatally because of congenital high airway obstruction syndrome (CHAOS). When a TOF is present, polyhydramnion and several other congenital malformations seen on the ultrasound examination should alert clinicians of potential tracheal problems. Prenatal magnetic resonance imaging (MRI) may provide a definitive diagnosis. Postnatal diagnosis is based on recognition of specific clinical signs in the newborn with TA: respiratory distress with breathing movement without appropriate air entry, no audible cry, and failed endotracheal intubation. Despite progress in surgical interventions, mortality remains high. Prenatal diagnosis of TA is possible, but only if a TOF is absent resulting in CHAOS. Prenatal diagnosis of polyhydramnion and other congenital malformation should alert clinicians of potential tracheal problems. Prenatal MRI may provide a definitive diagnosis.
Tracheal/abnormalities; Tracheal agenesis; Tracheal aplasia; Tracheal atresia; Newborn
A newborn female infant born to a woman on immunosuppressive medications including mycophenolate mofetil (MMF) for a renal graft secondary to lupus nephritis presented with congenital diaphragmatic hernia (CDH) and additional findings of microtia, esophageal atresia with tracheoesophageal fistula, cleft palate, congenital heart defect, digital anomalies, and dysmorphic facial features. Pulmonary hypoplasia resulted in death at day two of life. She was presumed to have Fryns syndrome based on diagnostic criteria established for this recessive disorder with prominent features including CDH, facial anomalies, and nail hypoplasia. In retrospect, this infant's findings are more likely the result of teratogenic exposure to MMF, as more recent data have emerged linking aural atresia, digital anomalies, and dysmorphic features to this drug. To date, this is the only human report of CDH in an infant with prenatal exposure to MMF, although the manufacturer's package insert alludes to animal studies with a broad spectrum of malformations, including CDH. Thus, a teratogenic exposure can mimic a known Mendelian genetic syndrome, and caution is urged in presuming a genetic etiology for infants with potential teratogenic exposure to relatively new drugs with limited published animal data.
Mycophenolate mofetil; teratogen; Fryns syndrome; congenital diaphragmatic hernia; microtia; embryopathy