A familial disorder with duodenal atresia and tetralogy of Fallot.

We report on two sibs with tetralogy of Fallot (TOF) and duodenal atresia (DA). The first child, a 6-year-old girl, had a right facial palsy in addition to the TOF and DA. Her brother, age 10 months, was born with bilateral microtia without facial palsy. The children are the product of an apparently non-consanguineous union between clinically normal parents. The pertinent family history includes a paternal aunt with TOF and a cleft lip and palate who died in childhood and another paternal aunt with a supernumerary thumb. This family has anomalies found in several syndromes, but does not meet the diagnostic criteria for any of them. The genetic basis for this condition remains unknown, but the pattern of inheritance is likely either autosomal recessive, or autosomal dominant with variable expression and reduced penetrance. The pathogenesis is unknown, but either a disturbance in neural crest cell migration or familial predisposition to vascular disruption might explain this pattern of malformations.

Use of a magnified cardiac airflow oscillation to classify neonatal apnea.

Currently the classification of neonatal apnea relies upon an inference of airway closure based upon the presence of breathing efforts against such an obstruction. In this study we evaluate a new method of classification which utilizes the presence or absence of cardiac airflow oscillation to detect airway closure. Specifically, this evaluation consisted of an examination of the transmission characteristics of an artificially produced airflow oscillation through discrete airway narrowing in a model system; a confirmation that voluntary upper airway occlusion in adult volunteers uniformly induces complete loss of the oscillation; and a comparison of the cardiac oscillation method with the traditional method of apnea classification in a cohort of 4,309 apneas in 32 infants. We determined that the amplitude of the oscillation is negatively correlated with resistance (r = 0.97) and positively with the radius (r = 0.98) of narrowing in a model system, and that voluntary airway obstruction in adult subjects uniformly results in loss of transmitted cardiac oscillations. Moreover, although there was similarity in the frequency distribution of central, obstructive, and mixed apneas in our infants, there were statistically significantly greater obstructive events detected by the cardiac oscillation method. In addition, the cardiac oscillation method had the additional advantage of providing information regarding the timing of airway obstruction during apnea.

Endoscopic closure of recurrent tracheoesophageal fistula using Tisseel.

The author reports on two patients who presented with recurrent tracheoesophageal fistula. They were treated with the endoscopic application of fibrin sealant (Tisseel) directly to the fistula tract. The technique may require multiple applications before complete fistula closure is achieved. The procedure is associated with low morbidity and may eliminate the need for a second thoracotomy.

Rigid bronchoscopy in the pediatric age group: diagnostic effectiveness.

Over a 15-year period, 277 diagnostic bronchoscopic procedures were carried out at the Winnipeg Children's Hospital using rigid bronchoscopic instrumentation. The objective of the review is to examine contribution to final diagnosis made by the procedure. The patient population included 60% male and 40% female patients ranging from the first day of life to 18 years (mean age, 6 years). Indications for bronchoscopy fell into two large groups, including 60% of patients with evidence of lower airway disease and 30% of patients with evidence of upper airway obstruction. In patients with upper airway obstruction, half were found to have a congenital underlying cause and half were due to an acquired lesion. In 85% of patients, a specific diagnosis was reached and this proved to correlate positively with the preoperative diagnosis in 80% of patients and negatively in 20%. Definitive treatment in patients with upper airway obstruction included surgical intervention in one third of patients. Patients with lower airway disease were diagnosed as having consolidation in 43%, atelectasis in 39%, and bronchiectasis in 18%. Disease localized most frequently to the left lower and right upper lobes and in only 10 of 168 patients was a congenital cause determined. Among 168 patients, 30 had surgical treatment as the definitive management with the majority of patients treated medically. Bronchoscopy was shown to contribute to diagnosis in 88% of patients examined. Bronchoscopy was carried out with a complication rate of 3% and no mortality.

Tracheobronchial injuries in children.

Five patients with tracheobronchial injuries secondary to blunt thoracic trauma were reviewed over a 9-year period. Bronchial disruption occurred in four cases and tracheal disruption in one. Of the four patients with bronchial disruption, a major airway injury was suspected early because of a large air leak or persistent pulmonary atelectasis. However, definitive diagnosis by bronchoscopy was delayed from 4 to 16 days due to initial response to conservative management. Bronchial repair was achieved in every case: additional lobectomy was required in only one instance. Postoperative bronchial stenosis occurred in one patient and responded well to dilatation. The child with a blowout perforation of the trachea was diagnosed early by bronchoscopy and was successfully managed without surgery. Tracheobronchial injury is one of the most severe injuries caused by blunt trauma and requires a high index of suspicion for early diagnosis and surgery. Bronchial repair is successful in most instances.

Lethal short-bowel syndrome.

Infants with short-bowel syndrome are difficult to manage. Despite supportive measures with parenteral nutrition and surgery to lengthen remaining bowel or increase functional absorptive surface area, the outcome for many of these infants is poor. We have reviewed a series of seven infants diagnosed with severe short bowel. Causes included volvulus (3), multiple atresias (2), and total intestinal aganglionosis (2). Survival time ranged from 15 days to 8 months. During the hospital course, each infant underwent one to three operative procedures to diagnose and manage the short bowel and all received total parenteral nutrition (TPN) ranging from 10 days to 6 months. One infant died of liver failure and two others developed significant liver dysfunction secondary to TPN. Most infants remained hospitalized until their death. Death occurred at an average of 9 weeks following the diagnosis of short-bowel syndrome. This review suggests that infants with less than 6 cm of small bowel beyond the Ligament of Treitz will inevitably die of their disease or treatment complications. Until bowel transplant becomes a viable alternative, operative intervention and nutritional support may prolong survival but will not change the outcome of these infants and will only contribute to additional morbidity. A decision to withhold further therapy would be reasonable at the time the diagnosis is established.

Familial duodenal atresia: a report of two families and review.

We report on 2 families with recurrence of uncomplicated duodenal atresia. The presence of consanguinity in one family, the frequent occurrence of consanguinity in parents of affected children previously reported, and the equal sex ratio suggest autosomal recessive inheritance.

Bile duct stricture in an infant with gastroschisis treated by percutaneous transhepatic drainage, biliary stenting, and balloon dilation.

A newborn twin with an antenatal diagnosis of gastroschisis underwent staged repair of the abdominal wall defect. She developed multiple fistulae due to ischemic bowel and then abdominal wall dehiscence requiring additional surgical interventions. Obstructive jaundice, first evident at 3 weeks of age, became progressively severe. A stricture of the common bile duct was diagnosed by percutaneous transhepatic cholangiography. The stricture was treated by percutaneous biliary drainage, biliary stenting, and balloon dilation of the common bile duct. These procedures, commonly used in adults for biliary decompression, may be useful alternatives to surgical intervention in infants and children with obstructive jaundice due to bile duct stricture.

Congenital duodenal obstruction: the impact of an antenatal diagnosis.

In a series of 34 infants with congenital duodenal obstruction, 15 were diagnosed by antenatal ultrasound between the fifth month of gestation and term. Fourteen patients were available for follow-up. In 10 of 14 cases, patients were available for follow-up. In 10 of 14 cases, parents were informed of the diagnosis antenatally and, in 9, were advised of the possibility of surgery in the neonatal period. Parents felt the information helped them prepare for the surgical and medical interventions necessary in the postnatal management of their infants. The mean birth weight and gestational age of these infants were comparable with those diagnosed postnatally. Associated congenital anomalies were more common in the patients with a postnatal diagnosis. In the total group of 34 infants with duodenal obstruction, 32 had surgical repair with a survival rate of 94%. Surgical procedures were comparable between the two groups. Surgical intervention occurred earlier in the neonatal period when an antenatal diagnosis was made. Overall survival in the entire series was 88% with four deaths attributed to severe associated congenital anomalies. We conclude that (1) the antenatal diagnosis of duodenal obstruction influences parents positively in coping with the anomaly, and (2) although surgery was performed sooner, the outcome of infants with duodenal obstruction was not changed by providing an antenatal diagnosis.

Incarcerated congenital lumbar hernia associated with the lumbocostovertebral syndrome.

Congenital lumbar hernias are uncommon, with only thirty-three reported cases. They have been associated with the lumbocostovertebral syndrome. This report describes a patient with a congenital lumbar hernia and manifestations of the lumbocostovertebral syndrome. The diagnosis of the hernia was delayed due to its juxtaposition to a posterior meningomyelocele, resulting in incarceration. The patient's course was also complicated by recurrence of the lumbar hernia requiring prosthetic repair.

Congenital ependymoblastoma presenting as a sacrococcygeal mass in a newborn: an immunohistochemical, light and electron microscopic study.

We describe a case of congenital ependymoblastoma presenting as a subcutaneous mass in the sacrococcygeal area of a newborn male. The tumor was composed of primitive cells disposed in compact sheets and cords and exhibiting focal ependymal differentiation. No other line of cellular differentiation was identified by either immunohistochemistry or ultrastructural study. Elevated serum alpha-fetoprotein was found, which decreased following surgical extirpation of the tumor. We propose that this tumor had its origin in the ependymal medullary vestige, similar to other sacrococcygeal ependymomas.

Early coma in intussusception: endogenous opioid induced?

A decreased level of consciousness with little abdominal pain or gastrointestinal symptoms is an uncommon, but well described, presentation of infantile intussusception. Its etiology is unclear. We describe a 10-month-old male who presented with coma and miosis, reversible with bolus injections of naloxone on three separate occasions. No opiates were involved and an intussusception was subsequently found. We speculate that the coma and miosis were induced by an endogenous opioid which could also mask the abdominal pain, thus explaining this presentation of intussusception. If so, miosis would be a valuable clue for diagnosing such children.

Management of tracheobronchomalacia with continuous positive airway pressure.

Three infants presenting with respiratory distress required early ventilator support. With attempts at extubation recurrent airway obstruction occurred. The clinical course was marked by recurrent episodes of hyperinflation, atelectasis, and pneumonia. Bronchoscopy, bronchography, and chest fluoroscopy revealed extensive collapse of the trachea and main stem bronchi. Two of the infants had gastroesophageal reflux and recurrent aspiration. Treatment of tracheobronchomalacia (TBM) was carried out with a tracheostomy tube attached to a portable CPAP apparatus. Initially CPAP was maintained at 10 cm of water and subsequently weaning was achieved by gradual decreasing of both positive pressure and hours of treatment per day. Total treatment time ranged from 13 to 25 months. Feedings were carried out via gastrostomy. Two infants with severe gastroesophageal reflux underwent fundoplication. Each infant was successfully weaned from distending pressure and decanulated. The treatment of severe TBM with long-term CPAP appears to be a reasonable alternative or adjunct to surgical procedures such as tracheopexy, resection, external splinting and tracheobronchoplasty.

The diagnosis of foreign body aspiration in childhood.

A 10-year experience with the treatment of 157 children for foreign body aspiration is reviewed. The object of the review is to examine diagnostic accuracy and to differentiate between the clinical features of patients diagnosed early (within 24 hours) and late (beyond 24 hours) following the onset of symptoms. Diagnostic accuracy was found to be high. In 83.5% of patients the combination of clinical and radiologic signs correctly disclosed the site of foreign bodies within the tracheobronchial tree. In 80% of patients there was a history of witnessed choking, however, only 46% were diagnosed early. The diagnostic triad of wheezing, coughing, and decreased breath sounds was more common in late diagnoses (47%) than in early diagnoses (31%). The triad was incomplete in 61% of all patients. Radiologic findings were normal in one third of the patients diagnosed early and revealed atelectasis or consolidation in one half of those diagnosed late. With early diagnosis endobronchial inflammation was absent in 56% of patients compared with severe inflammation in 36% of late diagnoses. Right-side foreign bodies were more common (56%) and were diagnosed early 50% of the time compared with left-side foreign bodies which were diagnosed early only 35% of the time. Two thirds of tracheal and bilateral foreign bodies were diagnosed early compared with only one third of peripheral foreign bodies. This review indicates that most children with foreign body aspiration were diagnosed accurately. Although diagnoses can be made early; more than half of the patients were diagnosed late when there was evidence of significant airway obstruction.(ABSTRACT TRUNCATED AT 250 WORDS)

Major dog attack injuries in children.

Children are frequently admitted to a hospital with injuries sustained as a result of being attacked by a dog. Over a 5-year period (1977 to 1981), 57 such patients have been treated at the Winnipeg Children's Hospital. Half of the dog attack victims were 5 years or younger with injuries occurring more often in boys (55%). The majority of patients (95%) sustained puncture wounds and lacerations to the face (77%) and extremities (23%). In three of the cases, the dog attack victims presented with peritonitis secondary to bowel perforation and were treated successfully. A fourth child died as a result of his injuries prior to reaching the hospital. In the past, much attention has been focused on soft tissue injuries and their cosmetic repair. It is also important to recognize that the small child is particularly vulnerable to dog maulings from which the injuries sustained may be life threatening or lethal. Prevention seems to be the only rational approach to solving this problem.

The Kraske approach to the repair of recurrent rectourethral fistula.

Rectourethral fistula is an uncommon surgical complication that may follow correction of anorectal anomalies. Previously described operations to repair the fistula have a high incidence of failure. Operative success is measured by achieving permanent separation of rectum from urethra, preventing urethral injury, and preserving urinary and fecal continence. Two patients with recurrent rectourethral fistula were repaired successfully. The operation described is performed through a posterior transsphincteric Kraske approach with direct repair of the fistula and resection of the fistula containing anorectal tube.

"Acquired" congenital diaphragmatic hernia.

"Acquired" congenital diaphragmatic hernia (ACDH), has been defined as delayed or late appearance of a congenital diaphragmatic hernia after a documented time periol of postnatal life with no evidence of herniation. Three new cases are presented. This diagnosis has been characterized on the basis of a review of these cases and 14 additional patients from the literature. A classification based upon timing of herniation and state of pulmonary development is presented.

Neonatal arterial occlusion with ischemic limb gangrene.

Arterial occlusion in the extremity of a neonate is a rare event of obscure etiology. The diagnosis implies an urgent situation which may result in extremity gangrene and ultimate loss of limb. In contrast, early diagnosis and appropriate management should result in preservation of a normal limb. The key to successful management appears to be an awareness of this common clinical condition in an uncommon clinical setting.