title: Hemimegalencephaly and Hirschsprung's disease: a unique association.
abstract: A 2-year-old boy with hemimegalencephaly and Hirschsprung's disease is reported. The unique association of these two entities is considered to be the presence of a common insult or insults that affect the innervation of the bowel and the formation of the cerebral cortex. Short-segment subtype of Hirschsprung's disease may suggest that this effect occurred between the eighth and twelfth weeks of gestation. Although there is a well-known coexistence of Hirschsprung's disease with the malformations that share a common neurocristopathic origin (abnormalities of neural crest cell growth, migration, or differentiation), a few extremely rare cases, as in this case, might reflect the coexistence of Hirschsprung's disease with a cerebral malformation (i.e., hemimegalencephaly) that is a nonneurocristopathic entity by itself.
authors.affiliation: Department of Pediatric Neurology, Institute of Neurological Sciences, Marmara University, Istanbul, Turkey.
authors.forename: D
authors.initials: D
authors.lastname: Türkdoğan-Sözüer
authors.forename: M M
authors.initials: MM
authors.lastname: Ozek
authors.forename: V
authors.initials: V
authors.lastname: Sehiralti
authors.forename: O
authors.initials: O
authors.lastname: Kurtkaya
authors.forename: A
authors.initials: A
authors.lastname: Sav
mesh_terms: D000015:Abnormalities, Multiple / Q000196:embryology / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000196:embryology / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D006627:Hirschsprung Disease / Q000196:embryology / Q000473:pathology; D006801:Humans; D008297:Male; D009421:Nervous System Malformations / Q000196:embryology / Q000473:pathology; D013036:Spasms, Infantile / Q000188:drug therapy / Q000209:etiology