Hemimegalencephaly and Hirschsprung's disease: a unique association.
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.
Türkdoğan-Sözüer
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Department of Pediatric Neurology, Institute of Neurological Sciences, Marmara University, Istanbul, Turkey.
Ozek
M M
MM
Sehiralti
V
V
Kurtkaya
O
O
Sav
A
A
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