Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease

Eli Shahar, Maruan Shinawi

Research output: Contribution to journalArticle

29 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)385-391
Number of pages7
JournalPediatric Neurology
Volume28
Issue number5
DOIs
StatePublished - May 2003
Externally publishedYes

Fingerprint Dive into the research topics of 'Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease'. Together they form a unique fingerprint.

  • Cite this