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

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 perfor...

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Bibliographic Details
Published in:Journal of clinical ultrasound 2022-07, Vol.50 (6), p.810-813
Main Authors: Lim, Yun‐Jung, Jung, Hyun Kyung
Format: Article
Language:English
Subjects:
Case reports
Congenital anomalies
Diagnosis
Hirschsprung disease
Hirschsprung's disease
Hypoventilation
Meconium
neonate
Neonates
total colonic aganglionosis
Ultrasonic imaging
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Summary: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. We describe the unique sonographic findings of total colonic aganglionosis in a term neonate with Haddad syndrome. US may help in diagnosing low intestinal obstruction, including total colonic aganglionosis, if performed within a few days after birth before the meconium has been passed.
ISSN:0091-2751
1097-0096
DOI:10.1002/jcu.23147