The association between epidermolysis bullosa (EB) and congenital pyloric atresia (CPA) is rare, but is known distinct clinical entity with autosomal recessive inheritance. The outcome of such an association was universally fatal. This is a report of two newborns with EB and CPA, associated with additional aplasia cutis congenita in one case. One patient was treated postoperatively with phenytoin and survived. Aspects of the diagnosis, pathogenesis, and management are also discussed.
Alimentary tract duplications are rare congenital anomalies that can present diagnostic and therapeutic difficulties. Although they can occur anywhere from the mouth to the anus, they are commonly seen in relation to the ileum.1,2 Intrathoracic foregut duplications, on the other hand, are even less common and present with a variety of symptoms, most commonly airway or esophageal obstruction. The high incidence of associated thoracic or cervical vertebral anomalies with foregut duplications should provide an early clue to the diagnosis, as management delay in such cases may be fatal. 3 The purpose of this report is to present two newborns with this anomaly and to discuss aspects of diagnosis and management. Case Reports Case 1A 10-day-old male infant was referred to our hospital because of severe respiratory distress. He was a product of a full-term normal vaginal delivery to a G4 P3 mother, and had an Apgar score of 8 and 9 at 1 and 5 minutes. At the age of 3 hours, he developed respiratory distress and was diagnosed with meconium aspiration. His examination was normal, apart from tachypnea with intercostal and subcostal retraction as well as diminished air entry on the left upper chest with a few crepitations on the right side. His chest x-ray showed hemivertebrae in the midthoracic region and haziness on the left upper lobe. The trachea was deviated to the left side and there was a mass on the right side. His CT scan of the chest revealed congenital anomalies of the upper thoracic vertebrae, including hemivertebrae. There was a large posterior mediastinal mass on the right side, which extended from the upper tracheal region to the diaphragm, and caused displacement of the heart, trachea, and esophagus. His MRI of the chest (Figure 1) showed a large prevertebral cystic mass of about 4 x 3.5 x 5 cm, mainly on the right side. There was also a cleft in the central area of upper thoracic vertebral bodies at the D4-D5 level. The cleft in the midline was connected to the cystic mass, most likely via dorsal stalk as well as tethering of the cord at the site of the cleft anteriorly. The patient underwent a right thoracotomy, which revealed a large cystic mass in the posterior mediastinum. There was a good line of cleavage between the mass and the esophagus. The mass was excised totally and the neurosurgeon dissected the stalk until about half the depth of vertebra, where it ended and was ligated and divided. There was no sign of any CSF leakage and the cyst was probably attached to the dura only. Histology revealed a 5 x 3 cm cyst lined partly with respiratory epithelium and stratified squamous epithelium, but mainly with intestinal epithelium, with some neurogenous elements as well.
The management of esophageal atresia (EA) and tracheoesophageal fistula (TEF) has improved markedly over the years, with a current overall survival of 80%-90%. This however, is not the case in developing countries, where mortality continues to be high. The results of treatment of 41 consecutive cases EA and/or TEF have been analyzed to determine factors pertinent to the outcome. The distribution of anomalies and a postoperative survival of 86.8% were comparable to those from developed countries. Aspiration pneumonia was unusually frequent in our patients (78%), but did not adversely influence outcome. Associated congenital anomalies as well as low birth weight continue to be important predictors of outcome in our setting. Our post-operative complications were similar to those from developed countries apart from a high incidence of stricture formation. This was attributed to gastroesophageal reflux, non-ventilation post-operatively, and the use of silk sutures to construct the anastomosis.
The majority of congenital diaphragmatic hernias (CDH) occur through the foramen of Bochdalek; herniation through the foramen of Morgagni (MH) is rare. Fifteen children (12 males and 3 females) with congenital MH (7 right, 3 left, 5 bilateral) were treated over a period of 15 years, comprising 11% of a total of 135 children with different types of CDH. The majority (12, 80%) had repeated chest infections. In 1 the hernia was discovered accidentally during evaluation of trauma, and another presented in the neonatal period with acute respiratory distress (ARD). The diagnosis was made on plain lateral chest radiograph when there was anterior herniation of bowel loops, and in these cases the diagnosis was confirmed by barium enema. Computed tomography was useful in preoperative diagnosis when the hernia contents were solid. All patients were operated upon transabdominally except 1, and in all cases there was a hernia sac. Associated anomalies were present in 10 (66.7%) patients: 4 (26.7%) had malrotation, 4 (26.7%) congenital heart disease, and 3 (20%) Down's syndrome. Our study shows a relatively high frequency of MH in our patients. MH rarely presents in the neonatal period, but when it does, it causes ARD. The majority of patients with MH present beyond the neonatal period with repeated attacks of chest infection, and although late-presenting MH is relatively benign, it nevertheless causes significant morbidity. Thus, clinical awareness and early diagnosis and surgical treatment are important factors.
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