A case of isolated sulfite oxidase deficiency and pyloric stenosis: Coincidence or common etiology?

Abstract

This article reports a full-term female who was diagnosed with isolated sulfite oxidase deficiency and hypertrophic pyloric stenosis. Isolated sulfite oxidase is a rare condition and to our knowledge, its association with pyloric stenosis has not been previously reported. The etiology of the two conditions is unclear however reports demonstrate neuronal deficiency in both. We review the imaging features and propose a pathophysiological link between these two conditions.

Keywords

Isolated sulfite oxidase deficiency - pyloric stenosis - nitric oxide - nitric oxide synthase