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The concept of neurocristopathy was introduced by Bolande in 1974 to describe a group of diseases arising from aberrations in the development, migration and differentiation of the embryonic neural crest (NC). This cell lineage differentiates into pigmentary and neural cells and forms part of the autonomous nervous system, nervous enteric plexus, as well as endocrine glands (adrenals, parathyroid gland) and chemoreceptors (carotid and aortic bodies). Neurocristopathies derived from a failure in NC development and range from alterations in intestinal ganglion cells, as seen in Hirschsprung’s Disease or in intestinal neuronal dysplasia, to alterations in skin pigmentation (such as neurofibromatosis, Waardenburg-Shah syndrome and piebaldism) (Spritz, 1997). In recent years, fostered by the increasing research on the NC ontogeny (Trainor, 2005), the notion of cristopathies has widened (Bolande, 1997), particularly with the inclusion of craniofacial syndromes of cranial crest mesoectodermal origin, often accompanied by morphological brain abnormalities (Couly & Aicardi, 1988), as well as the association with other diseases (Martucciello et al., 2005), including chromosomopathies (Down syndrome), embryopathies (fetal alcohol and fetal cocaine syndromes) and tumors of the endocrine system (multiple endocrine neoplasia type IIB). Based on the accumulating knowledge of the role of NC in development, Jones (1990) proposed a new classification of cristopathies according to the pathological mechanism involved. The first group includes the defects and disorders originally defined as neurocristopathies including pheochromocytoma, neurofibromatosis, and the multiple endocrine adenomatoses. These diseases can be explained as dysplasia of neural crest derivatives. Affected individuals rarely exhibit actual morphological malformations but do carry a risk for impaired growth of crest-derived tissue. The second group corresponds to defects and disorders which derive from migrational abnormalities primarily of cranial NC cells such as frontonasal dysplasia, the DiGeorge sequence, velo-cardio-facial syndrome and Waardenberg syndrome represent true malformations. The genetic origins of some of these syndromes have been identified: microdeletions at the locus 22q11.2 (DiGeorge sequence and velo-cardio-facial syndromes) and mutations in the PAX3, MITF, EDNRB, EDN3 and SOX10 genes (Waardenberg syndrome I-IV types)

Neurocristopathies: Role of Glial Cells, Genetic Basis and Relevance of Brain Imaging for Diagnosis