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Intestinal neuronal dysplasia in twins
H Kobayashi1, A Mahomed, P Puri
1Children's Research Center, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
Summary
Familial intestinal neuronal dysplasia (IND) is rare. This study reports identical twins with IND, suggesting genetic factors contribute to this rare bowel disorder.
Area of Science:
- Gastroenterology
- Pediatric Surgery
- Genetics
Background:
- Intestinal neuronal dysplasia (IND) is a rare congenital disorder of the enteric nervous system.
- It is typically found adjacent to the aganglionic segment in Hirschsprung's disease or as an isolated condition.
- Familial cases of IND are exceptionally uncommon.
Observation:
- A case of one-year-old identical male twins presenting with chronic constipation and abdominal distension since birth is described.
- Both twins exhibited fecal impaction and gross fecal loading of the colon and rectum on barium enema.
- Histochemical examination of rectal biopsies revealed characteristic features of IND, including increased acetylcholinesterase (AChE) staining and giant ganglia.
Findings:
- Both twins diagnosed with intestinal neuronal dysplasia (IND).
- Histopathology confirmed increased AChE-positive nerve fibers and hyperplasia of the submucous plexus with giant ganglia.
- Surgical intervention (extended internal sphincter myectomy) resulted in normal bowel function for both twins within six months.
Implications:
- The occurrence of IND in identical twins strongly suggests a significant genetic component in the etiology of the disease.
- This case highlights the importance of considering genetic factors in the diagnosis and management of rare gastrointestinal motility disorders.
- Further research into the genetic basis of IND may lead to improved diagnostic tools and targeted therapies.