The complete spectrum of neurocristopathy in an infant with congenital hypoventilation, Hirschsprung's disease, and neuroblastoma.

Neuroblastoma, Hirschsprung's disease, and central hypoventilation (Ondine's curse) are considered aberrations of neural crest cell growth, migration, or differentiation, and as such are considered to be under the general heading of neurocristopathy. Their combined occurrence in a newborn infant presenting with total colonic aganglionosis, central hypoventilation, and multifocal neuroblastoma had not been reported previously. A 2.3-kg white full-term girl required endotracheal intubation because of persistent apnea in the first hours of life. She had progressive abdominal distension and failure to pass meconium; a barium enema was performed, which showed microcolon with meconium pellets at the distal ileum. During laparotomy the distal ileum was found to be obstructed with inspissated meconium; an ileostomy and appendectomy were performed. The resected specimens were aganglionic. An additional 20 cm of aganglionic ileum was removed, and a normally innervated ileostomy was constructed. Numerous attempts at extubation failed because of apnea. The results of an extensive apnea workup, including electroencephalogram, magnetic resonance imaging (MRI), bronchoscopy, and pH probe study, were normal. Sleep studies showed congenital central hypoventilation syndrome, and the patient underwent a tracheostomy. At 3 months, an abdominal ultrasound examination performed within a septic workup showed a right suprarenal mass extending across the midline. Thoracic and abdominal MRI scans showed large bilateral adrenal and posterior mediastinal masses. The serum catecholamines and ferritin level were markedly elevated, suggestive of neuroblastoma. In light of the child's multiple problems, the family chose to forgo further workup (including a tissue biopsy) and therapy. In the following 2 months her tumor load rapidly progressed, and she died of respiratory insufficiency.(ABSTRACT TRUNCATED AT 250 WORDS)

Diaphragm pacing in infants and children. A life-table analysis of implanted components.

Since 1976, we have implanted bilateral phrenic nerve electrodes for diaphragm pacing in 33 infants and children. This population includes 23 patients with congenital central hypoventilation syndrome (CHS), two with late onset CHS and hypothalamic dysfunction, three with hypoventilation associated with Chiari II malformation and myelomeningocele, and five with quadriplegia. Our experience, totalling 192 system-years and 96 patient-years of pacing, has enabled us to document the nature and frequency of problems related to the implanted components of the Avery Laboratories (S-232-1) pacemaker system when used in a pediatric population. By life table analysis, the mean time to need for replacement of any implanted component was 56.3 months. A total of 26 failures requiring component replacement occurred and were classified into four types: (1) receiver failure (15 cases), (2) electrode wire or wire insulation breakage (six cases), (3) infection requiring diaphragm pacer system removal (three cases), and (4) mechanical nerve injury (two cases). We conclude that the present diaphragm pacing system is effective but not without risk of biomedical component failure. The present system might be substantially improved by (1) a modified receiver design with a hermetic seal to prevent fluid penetration, (2) stronger, better insulated electrode wires, and (3) modifications of surgical technique and electrode type to prevent phrenic nerve damage.

Congenital central hypoventilation syndrome. A report of successful experience with bilateral diaphragmatic pacing.

Bilateral diaphragmatic pacing was successfully performed in an 18-month-old child with congenital central hypoventilation syndrome (Ondine's curse) as an alternative to long-term mechanical ventilation. Subsequent complications were related more to cor pulmonale and tracheostomy care than to the pacing itself.