Coexistent neuroblastoma and Hirschsprung's disease--another manifestation of the neurocristopathy?

Abstract

Abnormalities of neural crest development may be manifested in a wide variety of ways ranging from von Recklinghausen's disease to Sipple's syndrome -- pheochromocytoma and medullary thyroid carcinoma. We report here yet another manifestation -- coexistent multiple neuroblastomas and Hirschsprung's disease in a newborn. In a review of the English literature we have found the combination of neuroblastoma and Hirschsprung's disease recorded only once previously [2]. However, the relationship between the two diseases was not discussed. The two diseases may be at the extremes of a spectrum of neural crest development pathology, i.e., Hirschsprung's representing a deficiency and neuroblastoma representing malignant proliferation of cells of neural crest origin.