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Sonographic findings of total colonic aganglionosis in a neonate with Haddad syndrome: A case report.

Yun-Jung LimHyung Kyung Jung
Published in: Journal of clinical ultrasound : JCU (2022)
Haddad syndrome is a rare congenital disorder characterized by congenital central hypoventilation syndrome and Hirschsprung disease. Total colonic aganglionosis is a rare and long-segment form of Hirschsprung disease, which is primarily diagnosed using contrast enemas. However, the diagnostic performance of contrast enemas is relatively low, making the diagnosis of total colonic aganglionosis challenging. In neonates, ultrasound may be used as an additional imaging modality for the diagnosis of Hirschsprung disease. We describe the unique sonographic findings of total colonic aganglionosis in a term neonate with failure to pass meconium and respiratory distress, who was subsequently diagnosed with Haddad syndrome.
Keyphrases
  • case report
  • magnetic resonance
  • ulcerative colitis
  • magnetic resonance imaging
  • high resolution
  • computed tomography
  • mass spectrometry
  • contrast enhanced
  • preterm birth