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Multiple Sclerosis in a Person With Hirschprung's Disease: A Case Report
Masoud Etemadifar1,2, Shima Shoeib1,2, Mehri Salari3
1Alzahra Research Institute Alzahra University Hospital, Isfahan University of Medical Sciences Isfahan Iran.
Clinical Case Reports
|July 12, 2026
Summary
This case report details a 26-year-old man diagnosed with both Multiple Sclerosis (MS) and Hirschsprung
Area of Science:
- Neurology
- Gastroenterology
- Genetics
Background:
- Multiple sclerosis (MS) is a common central nervous system demyelinating disease.
- Hirschsprung's disease involves intestinal nerve absence due to failed neural crest cell migration.
- Previous reports documented co-occurrence linked to EDNRB gene mutations.
Purpose of the Study:
- To report a rare case of co-occurring Multiple Sclerosis and Hirschsprung's disease in an individual without a known family history.
- To describe the diagnostic process and management of this dual diagnosis.
- To present the patient's treatment with dimethyl fumarate.
Main Methods:
- Case presentation of a 26-year-old male with neurological and gastrointestinal symptoms.
- Review of patient's medical history, diagnostic evaluations for MS and Hirschsprung's disease.
- Documentation of treatment initiated with dimethyl fumarate.
Main Results:
- The patient presented with symptoms consistent with MS (facial weakness, headaches, imbalance) and had a prior diagnosis of Hirschsprung's disease.
- Diagnostic workup confirmed co-occurrence of MS and Hirschsprung's disease.
- Family history was negative for both conditions.
Conclusions:
- The co-occurrence of MS and Hirschsprung's disease is exceptionally rare, especially without a known genetic link.
- This case highlights the importance of comprehensive evaluation in patients with complex neurological and gastrointestinal presentations.
- Dimethyl fumarate was utilized as a disease-modifying therapy for MS in this patient.
