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Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
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Constipation and dilated bowel: Hirschsprung's disease is not always the case
Savas P Deftereos1, Soultana Foutzitzi2, Georgios Karagiannakis3
1Department of Radiology, Democritus University of Thrace (D.U.Th.) University Hospital of Alexandroupolis.
Clinics and Practice
|October 30, 2020
Summary
This case study highlights a diagnostic challenge where initial symptoms suggested Hirschsprung's disease (HD). Advanced imaging ultimately revealed syringomyelia, emphasizing the importance of comprehensive evaluation beyond initial radiological findings.
Area of Science:
- Pediatric Gastroenterology
- Neurology
- Radiology
Background:
- A 2-month-old boy presented with constipation and abdominal distension.
- Initial imaging suggested ultrashort segment Hirschsprung's disease (HD).
Purpose of the Study:
- To describe a challenging diagnostic case.
- To illustrate the differential diagnosis between Hirschsprung's disease and syringomyelia.
Main Methods:
- Plain radiography, ultrasound, and barium enema.
- Rectal suction biopsy.
- Magnetic resonance imaging (MRI) of the spine and abdomen.
Main Results:
- Rectal biopsy was negative for HD.
- Vertebral abnormalities were noted on radiography.
- MRI revealed a syrinx throughout the medullary cone, indicating syringomyelia.
Conclusions:
- Imaging findings can be misleading in diagnosing conditions like HD.
- Syringomyelia should be considered in infants with unexplained abdominal symptoms and neurological findings.
- A thorough diagnostic approach is crucial for accurate diagnosis.
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