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Hemimegalencephaly and Hirschsprung's disease: a unique association
D Türkdoğan-Sözüer1, M M Ozek, V Sehiralti
1Department of Pediatric Neurology, Institute of Neurological Sciences, Marmara University, Istanbul, Turkey.
Insights
This case report details a rare association between hemimegalencephaly and Hirschsprung's disease in a young child. The findings suggest a potential shared etiology affecting both brain development and enteric nervous system formation.
Area of Science:
- Neuroscience
- Developmental Biology
- Pediatric Surgery
Background:
- Hirschsprung's disease is a congenital disorder characterized by the absence of ganglion cells in the distal bowel, leading to functional obstruction.
- Hemimegalencephaly is a rare congenital brain malformation where one cerebral hemisphere is enlarged.
- While Hirschsprung's disease often coexists with neurocristopathic conditions, its association with hemimegalencephaly is exceptionally rare.
Observation:
- A 2-year-old boy presented with both hemimegalencephaly and Hirschsprung's disease.
- The short-segment subtype of Hirschsprung's disease was noted, suggesting an early gestational insult.
Findings:
- The co-occurrence of hemimegalencephaly and Hirschsprung's disease may indicate a common insult impacting both cerebral cortex development and enteric innervation.
- This case highlights a potential link between a non-neurocristopathic cerebral malformation and a condition with a known neurocristopathic origin.
Implications:
- Understanding the shared etiology could lead to improved diagnostic approaches for complex congenital disorders.
- Further research into early gestational insults may elucidate the pathogenesis of these rare combined conditions.
- This case expands the known spectrum of conditions associated with Hirschsprung's disease.
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.