Multiple Sclerosis in a Person With Hirschprung's Disease: A Case Report

Abstract

Multiple sclerosis (MS) is the most common demyelinating disease of the central nervous system. Hirschsprung's disease is a condition characterized by absence of nerves in the intestines, secondary to failure of migration of neural crest cells therein. Co-occurrence of these conditions is reported previously in a family with a stop mutation in the EDNRB gene. In the present report we present the case of a 26-year-old man who presented with complaints of left facial weakness, episodic generalized headaches, and imbalance. He was previously diagnosed with Hirschsprung's disease and had undergone total colectomy. Subsequent evaluations confirmed MS. Family history was unremarkable, with no family members affected by either condition. Furthermore, we present our experience in managing the case with dimethyl fumarate disease-modifying therapy.