Purpose or Case Report: Neurocristopathies are a group of disorders characterized by a common origin in aberrant neural crest development. These include common pediatric disorders such as Hirschsprung’s disease, Treacher Collins syndrome, Di George syndrome, MEN type 2A/2B as well as common pediatric tumors such as neuroblastoma, pheochromocytoma, Ewing’s sarcoma, neurofibromatosis, medullary carcinoma of the thyroid and melanoma.
Neural crest cells are derived from discrete cell masses that arise at the junction between the neural and epidermal ectoderm in neurula-stage vertebrate embryos. Neural crest cells migrate extensively in an organized manner and spread widely throughout the body. Derivatives of neural crest cells include Schwann cells in the leptomeninges, nerve root ganglia in the central nervous system, thyroid C cells, bone formation in the mandible and skull base, dermis of the head and neck, myenteric nerve plexuses of the intestines, pigment cells of the skin, paravertebral sympathetic ganglia, and adrenal medulla cells.
Developmental disturbances of the neural crest cells give rise to a variety of disorders as listed above and have collectively been termed neurocristopathies by Bolande in 1974. Patients with one neurocristopahty have an increased risk of having other neurocristopathies. Familial inheritance has also been shown. There is a variability in the combinations of lesions found in the same patient or family.
Recent advances in genetics and developmental biology have provided deeper insights into these collection of conditions. New technologies in biology including iPS cell technology are expected to further advance our understanding of neurocristopathies.
Methods & Materials: 1. Review normal neural crest development and embryological basis of neurocristopathies
2. Demonstrate various manifestations of neurocristopathies by providing example cases
Results: Review of the embryological origin of neurocristopathies, and how these developmental abnormalies can lead to various manifestations by providing example cases.
Conclusions: Neurocristopathies are common among pediatric populations. However, the concept of neurocristopathies is not well known among pediatric radiologists. These diverse set of disorders seem unrelated; however, they share common developmental origin and certain imaging features. Understanding the embryological origins of these spectrum of conditions as well as their imaging appearance enables deeper understanding of these common pediatric disorders and associated conditions.