52 A COMPLETE SPECTRUM OF NEUROCRISTOPATHY - CONGENITAL HYPOVENTILATION, HIRSCHSPRUNG'S DISEASE AND NEUROBLASTOMA – A CASE REPORT OF A 19-YEAR-OLD MALE
Annita Budzanowski, Christina Major, Robert Wheeler, Gary Connett
University Hospital Southampton, Southampton, United Kingdom

Abstract

Aim of the Study
Neuroblastomas are neoplasms of neural crest cell origin. Presenting with other neural crest cell abnormalities such as Hirschsprung’s disease, central hypoventilation, autonomic disturbances and other tumors they have been termed neurocristopathies. Previously this combination was associated with early mortality in childhood and infancy however we present a case of a patient with neurocristopathy treated successfully for bilateral neuroblastoma and surviving into adulthood.

Methods
We have performed a retrospective case note review.

Main results
This male term infant with normal antenatal scans was born via normal vaginal delivery. He presented asystolic and apnoeic, requiring cardiac massage, intubation and ventilation. Following multiple failed extubations due to apneas and hypoventilation, he was diagnosed with Ondine’s curse with insertion of a tracheostomy and airway support. Within the first weeks of life, he developed Hirschprung’s enterocolitis requiring an emergency laparotomy and defunctioning stoma formation. Biopsies confirmed total colonic aganglionosis. At three months of age ultrasonography demonstrated a right-sided adrenal mass with a marginally elevated vanillylmandelic acid. The tumour size increased without chemotherapy and so complete primary excision of neuroblastoma was performed at 5 months of age. A short time following this, he developed multiple metastatic lesions in the thorax, left adrenal, and pelvis. Metachronous disease was treated expectedly.  Regular monitoring demonstrated resolution of lesions without treatment and since the age two and a half, there has been no evidence of recurrence. This patient has now been discharged from paediatric services at age 19.

Conclusion
Typically, a diagnosis of neuroblastoma in a patient with central hypoventilation is considered a lethal combination.  Our presentation would demonstrate that this is not the case, and in fact bilateral neuroblastoma associated with neurocristopathy is survivable into adulthood.


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