Neurocristopathies are a group of diverse disorders resulting from defective 
growth, differentiation, and migration of the neural crest cells. Hirschsprung's 
disease, namely aganglionic megacolon, is the consequence of defective migration 
of neural crest cells on to the colonic submucosa and is therefore considered a 
neurocristopathy. We report on four children in whom was diagnosed a 
neurocristopathy, associating Hirschsprung's disease with a wide spectrum of 
neurologic abnormalities. The patients included two children presenting the 
phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic 
facial features, microcephaly, and mental retardation, along with agenesis of 
the corpus callosum and cortical malformations associated with intractable 
seizures in one child. The third newborn presented with the Haddad syndrome: 
short-segment Hirschsprung's disease associated with the congenital central 
hypoventilation syndrome requiring permanent artificial ventilation. In the 
fourth child, absence of the corpus callosum was associated with mild dysmorphic 
features, borderline cognitive abilities, and attention-deficit disorder. 
Therefore, awareness of a possible neurocristopathy associated with neurologic 
abnormalities should be taken into account in any patient newly diagnosed with 
Hirschsprung's disease to detect the abnormalities early and promptly manage 
them. A thorough neurologic examination and a developmental assessment, 
including magnetic resonance imaging of the brain and electroencephalography, 
should be performed for any child presenting with an aganglionic megacolon, 
especially those presenting with seizures, developmental delay, or even 
congenital hypoventilation.