We report a three-year-old child with a rare genetic phenomenon, a UNC80 mutation, who had an unusual presentation of viral gastroenteritis. The UNC80 gene encodes for an important voltage-independent channel in neurons and a mutation in this protein can lead to severe hypotonia. The hypotonia manifests as delayed gastric emptying, impaired respiratory clearance, and/or delayed muscle coordination, which can predispose to infection susceptibility. UNC80 gene mutations have also been shown to cause global developmental delays, failure to thrive, and phenotypic dysmorphisms. In our patient, we believe that his genetic defect precipitated a complicated hospital course. The patient's delayed gastric emptying caused difficulty in recovering from viral gastroenteritis while a concurrent pneumonia diagnosis required assistance in clearing respiratory contents. The UNC80 mutation is under-studied, and more studies are necessary to understand the clinical implications of its phenotypes.
Keywords: developmental delay; gastroenteritis; hypotonia; nalcn; pneumonia; unc80; viral gastroenteritis.