Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus: DiGeorge syndrome.

A family is presented in which three of four siblings had truncus arteriosus and other anomalies compatible with the third and fourth pharyngeal pouch syndrome (DiGeorge syndrome). The syndrome is uncommon and most of the reported cases have been solitary. In this family an autosomal recessive inheritance is possible.

Late results of Senning operation.

OBJECTIVES: Few data exist for long-term results after the Senning operation for transposition of the great arteries. Sinus node dysfunction and systemic ventricular dysfunction have been the main problems. We evaluated risk factors for late death and the incidence of late death, sinus node dysfunction, and right ventricular dysfunction in 100 patients. METHODS: The study was a retrospective analysis with a mean follow-up time of 12.8 +/- 3.1 years. No patients were lost to follow-up. Patients were divided in 2 groups according to ventricular septal defect (73 simple, 27 complex). The electrocardiogram, ambulatory electrocardiogram, echocardiogram, and chest radiograph were reviewed for each patient. RESULTS: The overall mortality rate was 10%. The actuarial survival was 90% (simple) and 78% (complex); the probability of staying in sinus rhythm was 34% and 7%, and the probability of normal right ventricular function was 52% and 39%, respectively, 15 years after operation. The incidence of sinus node dysfunction increased gradually over time, although the incidence of right ventricular dysfunction increased rapidly after 10 years of follow-up. Late deaths, arrhythmias, and right ventricular dysfunction were significantly more frequent in the complex group. Right ventricular dysfunction and active arrhythmias were risk factors for late death. CONCLUSION: Long-term follow-up after the Senning operation shows increasing incidence of sinus node dysfunction and right ventricular dysfunction over time. Deteriorating right ventricular function is a major concern. Its early recognition and initiation of appropriate management to preserve cardiac function is an important follow-up goal.

Pancreatitis after open heart surgery in children.

Between January 1981 and March 1986, we found 54 children with abnormal serum amylase values or clinical pancreatitis after open heart surgery. Of these 33, had increased serum amylase values only, and 19 had increased serum amylase values in conjunction with clinical pancreatitis. Two patients had haemorrhagic pancreatitis identified at autopsy. The mortality was 42.9% (9/21) in patients with pancreatitis compared to 9.1% (3/33) with amylasaemia only. Pancreatitis is a serious complication after complex open heart surgery in children. The aetiology is probably of vascular origin, and routine serum amylase screening is recommended.

Primary mediastinal tumors in children.

From 1950-1986, a total of 159 children (age 1 day-16 years) were treated for primary mediastinal tumors at our hospital. There were 77 malignant and 82 benign tumors. Tracheal compression causing respiratory distress was a significant symptom in 45.3% (24/53) of the children under 2 years of age. The diagnosis was based on the chest X-ray and the findings at surgery. Malignant lymphoma was usually diagnosed by cervical lymph node biopsy (23/39) but the treatment protocol was non-surgical. Non-lymphatic malignant tumors were completely or partially excised in 59.0% (23/39) of the cases. There was no early or late mortality in patients with benign tumors. At follow-up (0.5-24 years; mean 6.0 years), 62.3% (48/77) of the patients with malignant tumors were alive and symptom free. About half of the mediastinal tumors in children are malignant. Mediastinal tumors in small children can cause severe respiratory symptoms demanding urgent treatment. The treatment of choice is surgery (except in lymphomas) and the results are good even in malignant tumors.

Iatrogenic, unexpected and other vascular rings in children.

Between May 1955 and July 1987, 33 children with a vascular ring compression syndrome were treated at this institution. There were 4 iatrogenic, 2 unexpectedly found and 27 symptomatic congenital vascular rings. Accurate diagnosis is based on a water soluble iodine contrast dye oesophagogram, bronchoscopy and angiography which are complementary examinations. All symptomatic congenital vascular rings were treated successfully without mortality, but the mortality was 50% if the lesion was iatrogenic in origin or unexpectedly found during palliative or corrective cardiac surgery.

The management of primary acetabular dysplasia. Its association with habitual side-lying.

Fifty-one infants with limited abduction of the hip and acetabular dysplasia were, between 1969 and 1975, treated with abduction-adduction exercises, administered by the parents; no abduction devices were used. In 1983 a follow-up examination was carried out on 41 of these patients. Although at birth these children had characteristics similar to patients with congenital dislocation of the hip, none of their hips dislocated. At birth acetabular measurements showed that half the children had severe dysplasia and the other half slight dysplasia; the difference between the affected and the healthy hips was significant. At follow-up the gait was normal in all the patients. Movements at the hips were symmetrical and within normal limits in all but one patient. The acetabular angle, the centre-edge angle, the shaft-neck angle, the hip ratio, and the size of the femoral head were the same on the previously affected side as on the normal side. Nineteen of the children followed up had preferred lying on one side and dysplasia of the upper hip had developed. The significance of the sleeping position on the development of acetabular dysplasia is discussed.

Esophageal atresia: primary results of 500 consecutively treated patients.

During 1947-1978, 500 patients with esophageal atresia and/or tracheoesophageal fistula were treated at the Children's Hospital, University of Helsinki. The proportion of different types of anomaly followed the usual distribution, the commonest being the type with distal fistula (88.2%). For analysis, the patients were divided into five phases, each consisting of 100 consecutively treated patients. The hospital mortality decreased from 81% in the first phase to 15% in the last phase. No patients were excluded, not even those cases with lethal associated anomalies. Many more severe cases were treated in the last two phases than in the first three. Patients with distal fistula were examined separately as were the patients without a fistula and those with only a tracheoesophageal fistula. With time, early diagnosis and early referral for treatment became a rule. This led to the policy that nearly all patients in the last phase had an early operation without staging. Gastrostomy was not considered necessary when early anastomosis was possible. In the last phase, only the transpleural approach was used and single-layer end-to-end anastomosis was favored. As a whole, the type of approach or anastomosis did not have significant effect on the results, except that the Sulamaa-type end-to-side anastomosis had the highest frequency for refistula. With time there was only a slight decrease in the incidence of anastomotic leak, but significant improvement in its management. Refistula as an early complication was seen only once in the last phase. As all anastomoses were routinely dilated, severe strictures were uncommon; there were only six in the series. The factor that probably improved the prognosis the most was better pulmonary care. The improved prognosis was also due to earlier referral, modern anesthesia, and intensive care. Postoperative pulmonary complications dropped from 92% in the first phase to 40% in the last. They were the most common single cause of death in the early series but caused no deaths among the last 100 patients with no associated anomalies. Low birth weight was an important prognostic factor early in the series but in the last phase the survival rate of under-2500-gm infants with no associated anomalies was 88%. The presence of severe associated anomalies remains the most important single cause of death of an esophageal atresia patient today. Some patients (eg, trisomy 18) are beyond the possibilities of surgical treatment. To improve the prognosis of the others, efforts in the treatment of their associated (especially cardiovascular) anomalies must be made. In the treatment of esophageal atresia itself, improvement may still be achieved in the number of patients using their own esophagus without replacement procedures. Finally, a new prognostic classification of esophageal atresia patients is suggested, excluding pneumonia as an index factor in the Waterston classification.

Livaditis myotomy in long-gap esophageal atresia.

During 1973 to 1983, Livaditis myotomy was performed on 12 esophageal atresia patients in whom anastomosis otherwise would have been impossible. Ten patients had the usual malformation with a distal fistula, while two had an isolated atresia. Four patients belonged to Waterston's risk group A, 4 to group B, and 4 to group C. In 11 cases anastomosis was permitted by myotomy. In one patient anastomosis was impossible even after myotomy. This baby weighed 1,380 g and she also had trisomy 18 with severe cardiac and renal anomalies leading to death. One patient had a refistula and died of pneumonia, she also had a severe congenital cardiac malformation. There were no anastomotic leakages to free pleural cavity nor complications related to the myotomy. The ten survivors were followed up for a mean period of 5.4 years (range 1.6 to 11.3 years). The subjective results at last follow-up according to the criteria of Desjardins were excellent in eight and good in two patients. Esophagograms showed no strictures, but two patients had a myotomy pouch.

Colon interposition or gastric tube? Follow-up study of colon-esophagus and gastric tube-esophagus patients.

Between 1963 and 1980, 34 elective esophageal reconstructions were performed on 29 esophageal atresia patients. Five patients needed two reconstructions. Among 20 colon replacement procedures there were 2 early deaths and three transplants failed. In 14 gastric tube reconstructions there was no mortality, but two tubes failed. The mean follow-up age of the 15 colon esophagus patients was 11.8 yrs, while for the 12 gastric tube patients it was 5.6 yrs. One death occurred during the follow-up period in each group. Late complications occurred in 7/15 of the colon and 3/12 of the gastric tube groups. Most of the serious complications occurred within 3 yr after surgery. The previously reported malabsorption following colon interposition seemed to be transient. At follow-up all but 3 patients with no significant other anomalies were within two standard deviations of the mean of height and weight. All were satisfied with their new esophagus. Nine out of 14 of the colon and 7/11 of the gastric tube groups were without symptoms, the others having only minor complaints. It is concluded that both colon replacement and gastric tube are satisfactory methods for esophageal reconstruction, and the long-term function seems equally good. However, the gastric tube procedure is easier to perform, has less mortality and fewer complications than colon replacement.

Failure of the Nissen fundoplication to control gastroesophageal reflux in esophageal atresia patients.

During the 5-year period from 1981 to 1985, Nissen fundoplication was performed on 13 esophageal atresia patients. One patient with Down's syndrome died because of cardiac malformation 2 weeks after the operation and is excluded from the analysis. Nine of the remaining 12 patients had the usual malformation with distal fistula, while three had isolated atresia. In eight patients there was a long gap between the segments, and in five Livaditis myotomy was necessary. The median age of the patients at the fundoplication was 1.3 years (range, 4.5 months to 10.6 years). The main clinical manifestations were anastomotic stricture (six patients), respiratory complications (three patients), vomiting and difficulties in feeding (two patients), and esophagitis only (one patient). Altogether nine patients had preoperative distal esophagitis. Mean follow-up time was 4.1 years (range, 2.0 to 6.4 years). All patients primarily benefited from the operation. Routine control endoscopy 3 to 8 months after the operation showed a competent fundoplication in all patients. However, in five patients the reflux later recurred, and endoscopy revealed a partially disrupted fundal wrap and esophagitis. Four patients underwent refundoplication and one is waiting for it as of this writing. Four patients had Barrett's esophagus at the last endoscopic control. There was one late death due to cardiac failure. In conclusion, although the short-term results of Nissen fundoplication in esophageal atresia patients are good, the risk for late recurrence is high. Regular long-term follow-up is therefore necessary.

Cervical Barrett's esophagus: a common complication of gastric tube reconstruction.

Upper gastrointestinal endoscopy was performed on 14 of our 18 long-term (more than 2 years) gastric tube esophagus survivors, with special attention paid to cervical gastric metaplasia. Barrett's esophagus was found in 10 patients. In eight cases, this could also be histologically verified. Three patients had esophagitis, but no verified gastric metaplasia. Isotope reflux studies were performed on six patients, all having both endoscopically and histologically shown pathology in the cervical esophagus. Reflux was provoked by putting patients in different positions. Only one patient showed gastrotubal reflux, and only in the prone Trendelenburg position. We conclude that Barrett's esophagus is a common complication of gastric tube patients, and is probably due to acid secreted by the tube itself. Life-long endoscopic follow-up of these patients is warranted.

Long-term endoscopic and flow cytometric follow-up of colon interposition.

During 1963 to 1978 colon interposition was performed on 20 children. Early and late mortality accounted for 3 patients and two transplants failed. Of the 15 long-term survivors, subjective results were obtained from 12 patients 12 to 26 years after the reconstruction. Three patients had an excellent subjective result and 9 had a good result. Nine patients underwent esophagogastroduodenoscopy 12 to 26 years after the reconstruction. The endoscopic findings included: marked tortuosity or dilatation (6), pooling of bile or yellow bezoar (3), macroscopic colitis (3), and polyps in the distal anastomosis (2). Only two patients had a straight colon tube without mucosal changes or marked retention. Specimens for histology were obtained in each endoscopy. Colitis was found in 3 patients, 1 patient had gastric metaplasia in the transplant, 1 patient had dysplasia of colonic mucosa and an inflammatory colonic polyp, and in 4 patients histology showed normal colonic mucosa. Flow cytometric samples were obtained from 8 patients. Two showed an aneuploid cell population; the other 6 had normal diploid findings. Because of frequent endoscopic and histological changes, regular endoscopic follow-up of these patients is warranted.

Bilateral Wilms' tumor and secondary malignancies.

A series of six patients with bilateral Wilms' tumor (nephroblastoma) is presented. Multimodal therapy yielded a survival rate of 83% at 2 yr of follow-up. However, at the end of a later follow-up period only two patients (33%) were alive. of the 4 patients who died. Only 1 died of Wilms' tumor. One died of complications of aggressive chemotherapy and two patients died after 12 and 16 yr following treatment of secondary malignant tumors arising in the irradiated region. Patients with bilateral tumor should be followed at regular intervals for the duration of life for the occurrence of secondary malignant tumors.

Duodenal atresia: late follow-up.

In this study, 41 randomly chosen patients aged 15 to 35 years (mean 22 years) were carefully examined. As primary operations there were 13 membrane excisions, five duodenoduodenostomies, 22 duodenojejunostomies, and one gastrojejunostomy. Twenty-eight patients were symptom-free, ten admitted some discomfort, three had major pains, including one with a history of duodenal ulcer. Reoperation for adhesion ileus had been performed in six patients, in the early postoperative phase in one instance. At late follow-up barium meals (N = 41) showed completely normal findings in two cases only, hiatal hernia in two, gastritis in three, duodenogastric reflux in 12, slight dilation of the duodenum with good emptying and no reflux in 16, a huge duodenal sac in nine, diminished peristalsis in eight, delayed emptying in five, slight luminal narrowing in three, duodenal diverticuli in nine, bezoars in two, and a polyp in the duodenum of one patient. Ultrasound (N = 35) revealed a gallbladder septum in one patient and a dilated common bile duct in another; in one subject the gallbladder was not visualized satisfactorily. Isotope biligraphy (N = 15) showed biliary reflux to the stomach in 12 cases. Endoscopy (N = 20) findings were: esophagitis (1), hiatal hernia (2), gastric mucosa in the lower esophagus (2), biliary reflux (9), gastritis (7), gastric polyps (2), dilated duodenum of variable degree (19), diminished peristalsis (4), marked retention (2), abnormal papilla (3), diverticuli (4), and a persistent membrane (1). Histology showed superficial gastritis in three patients. E coli was cultured from the duodenal juice in five patients and Candida found in two.(ABSTRACT TRUNCATED AT 250 WORDS)

The rectourogenital connection in anorectal malformations is an ectopic anal canal.

Histological investigation of the rectal blind pouch and rectourogenital or rectoperineal connection was performed in 10 patients with high or intermediate anorectal malformations. Nine of the patients underwent postoperative manometric evaluation. In nine of the 10 patients, transitional epithelium typical of the normal anal canal could be found in the distal rectum or rectal end of the fistulous connection. The zone of transitional epithelium was aganglionic and showed abnormally strong acetylcholinesterase reaction. A positive rectoanal inhibitory reflex was found manometrically in all cases in which the distal rectal pouch was utilized in the reconstruction of the anal canal. The slow pressure wave activity of the reconstructed anal canal was characteristic of a normal anal canal. The manometric evidence strongly suggests that there is a functional internal sphincter in high and intermediate anorectal malformations. The present study shows that in anorectal malformations the distal rectal pouch with the fistulous connection is actually an ectopic anal canal.

Long-term gastrointestinal morbidity in patients with congenital diaphragmatic defects.

Recent reports indicate a significant incidence of gastroesophageal reflux (GER) and other nonpulmonary problems after the repair of congenital diaphragmatic defects. Reports of follow-up through adulthood are few and based on a small number of patients. From 1948 to 1982, 107 of 164 patients (65%) treated at the authors' institution survived after repair of congenital diaphragmatic hernia or eventration. Sixty of the 107 survivors (56%) (mean age, 29.6 years; SD, 9.0 years) were interviewed and examined clinically. Forty-one of the sixty (68%) underwent upper gastrointestinal endoscopy. Early postoperative GER was recorded for 11 of the 60 patients (18%). Two of them underwent fundoplication because of an esophageal stricture. At the time of the follow-up study, 38 of the 60 (63%) reported symptoms suggestive of GER. Endoscopic or histological GER (esophagitis, Barrett's esophagus) was present in 22 of 41 patients (54%). No significant correlation between the initial severity of the diaphragmatic defect or neonatal postoperative problems and the late GER could be verified. Intestinal obstruction requiring hospital admission occurred in 12 of the 60 patients (20%), eight of whom had surgical treatment between 1 month and 20 years after repair of the diaphragmatic defect. GER and intestinal obstruction are common among patients who have undergone repair of a congenital diaphragmatic defect. Investigations for GER should be performed routinely during the follow-up of these patients.

Immunologic consequences of neonatal splenectomy.

The hazard of overwhelming postsplenectomy infection has been suggested to be greatest in children operated upon before 1 yr of age. In this work immune functions of 3 children, splenectomized within 2 days after birth were studied. The opsonic activity of the sera of all patients towards pneumococcus was decreased. The other immunologic findings were normal. These observations support the concept that all splenectomized patients should receive pneumococcal polysaccharide vaccine and in case of any infection adequate antibiotic therapy must be started very soon after the first symptoms.

Long-term pulmonary sequelae in survivors of congenital diaphragmatic defects.

Between 1948 and 1980, 107 of 164 patients survived after repair of a congenital diaphragmatic defect. Sixty of the survivors (mean age, 29.6 years; SD, 9.0 years) underwent clinical examination, chest radiography, spirometry, and diffusing capacity measurement 11 to 41 years after the diaphragmatic repair. Twenty-seven of the 60 had body plethysmography, xenon 133 radiospirometry, and a test of bronchial hyperreactivity. Subjective physical performance was below average for eight patients (13%), seven patients (12%) had asthma, and four patients (7%) reported increased susceptibility to respiratory infections. Thirty-one patients (52%) had ventilatory impairment, which was obstructive in nine (15%), restrictive in seven (12%), and obstructive and restrictive in 15 patients (25%). Nine (35%) of the 26 patients tested had bronchial hyperreactivity. The presence of ventilatory impairment and bronchial hyperreactivity correlated with the initial clinical severity of the affliction. Chest asymmetry (29 patients; 48%) and scoliosis (16 patients; 27%) were more common among patients with ventilatory impairment than among those with normal spirometric findings. Ventilatory impairment and thoracic deformities are common in adults with repaired diaphragmatic defects. Surveillance should begin in infancy and continue into adulthood.

Chest wall and spinal deformities in adults with congenital diaphragmatic defects.

Between 1948 and 1980, 107 of 164 patients survived after repair of congenital diaphragmatic defects. To study chest wall and spinal deformities among these patients, 60 survivors (mean age, 29.6 +/- 9.0 years) underwent clinical examination, chest and spinal radiography, spirometry, and diffusing capacity measurements. Twenty-seven of these patients also had body pletysmography, xenon 133 radiospirometry, and a test for bronchial hyperreactivity. Chest asymmetry was present in 29 patients (48%). Eleven patients (18%) had pectus excavatum, and one had a pectus carinatum deformity. Anterior asymmetry, pectus deformities, and a flat chest were more common among the patients who initially had a large diaphragmatic defect. Two patients underwent anterior thoracoplasty because of their deformities. Sixteen patients (27%) had significant scoliosis (Cobb angle > or = 10 degrees). Scoliosis was more common in patients with ventilatory impairment than in those with normal lung function. One patient required spinal stabilization, one with severe kyphoscoliosis remains under observation, and a patient with moderate scoliosis was treated with a spinal brace. The results of this study indicate that chest wall deformities and scoliosis are common among adults with repaired congenital diaphragmatic defects. In most patients the deformity is mild, but some will require surgery. Surveillance until adulthood is appropriate.