Intoduction to Neurocristopathies

 

Original Image (Smilowitz, Cassidy, Wood)

Defective neural crest development gives rise to a number of congenital malformations. The term neurocristopathies collectively refers to these syndromes, tumors, and dimorphologies of neural crest tissue. The neurocristopathies often involve the adrenal medulla, endocrine organs of neural crest origin, and Schwann cells of the ANS.

Neurocristopathies are not limited to these regions - there is a great diversity of disorders associated with the crest cells because they play important roles in an eclectic mix of body tissues.

Typically, there are two major categories of neurocristopathies: defects in neural crest migration and tumors of neural crest. (Carlson, 259)



Tumors of neural crest include:

Pheochrtomocyoma: a tumor of chromaffin tissue of the adrenal medulla
Neuroblastoma: tumor of the adrenal medulla, autonomic ganglia
Medullary carcinoma of the thyroid: tumor of the parafollicular cells of thyroid.
Carcinoid tumors - tumors of enterochromaffin cells of digestive tract.
Neurofibromatosis - peripheral nerve tumors.

Defects of Migration:

Waardenburg's syndrome
Trunk Neural Crest
Hirshsprung's disease
Cranial Neural Crest
Aorticopulmonary septation defect of heart
Cleft Lip, cleft palate.
Frontonasal dysplasia
Di George syndrome - hyperthyroidism, thyroid deficiency, thymic dysplasia.
Dental anomalies.
Trunk & Cranial
CHARGE association

Other Defects

Albinism