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Coexistent Hirschsprung's disease and esophageal achalasia in male siblings
J L Kelly1, T M Mulcahy, D S O'Riordain
1Department of Surgery, Cork University Hospital, Ireland.
Insights
This study reports a rare case of two brothers who developed esophageal achalasia and Hirschsprung
Area of Science:
- Pediatric Gastroenterology
- Clinical Genetics
- Surgical Innovation
Background:
- Familial aggregation of gastrointestinal motility disorders is uncommon.
- Esophageal achalasia and Hirschsprung's disease are distinct neurocristopathies affecting different parts of the enteric nervous system.
- Genetic etiologies for both conditions are increasingly understood, often involving the RET signaling pathway.
Observation:
- Two male siblings presented with neonatal esophageal achalasia, successfully treated surgically.
- Both siblings later developed symptoms consistent with Hirschsprung's disease.
- One sibling underwent subtotal colectomy with ileoanal anastomosis; the other is managed conservatively.
Findings:
- Genetic analysis of key genes (RET, EDN3, EDNRB) did not reveal mutations.
- This represents the first reported instance of familial esophageal achalasia co-occurring with Hirschsprung's disease.
- The absence of identified mutations suggests novel genetic factors or complex inheritance patterns.
Implications:
- Highlights a potential, previously unrecognized syndromic association between esophageal achalasia and Hirschsprung's disease.
- Suggests the need for vigilance in screening for Hirschsprung's disease in infants with achalasia, and vice versa.
- Underscores the complexity of enteric nervous system development and the potential for shared, yet undiscovered, genetic underpinnings.
Abstract:
Achalasia of the esophagus developed in two male siblings soon after birth, and they were successfully treated by surgery. Persistent signs resulted in the later diagnosis of Hirschsprung's disease. One required subtotal colectomy and ileoanal anastomosis, and the other is managing well on conservative treatment. Genetic analysis of the genes encoding the RET protooncogene, endothelin-3, and the endothelin-3 receptor did not show any defect. Familial achalasia of the esophagus in combination with Hirschsprung's disease has never been reported.