An Atypical Case of Cluster Convulsions with Gastroenteritis in a child harboring a likely benign heterozygous variant of the NTRK2 gene

Abstract

Convulsions in the context of mild diarrhea were first described in 1982 by Morooka K. There is a description of seasonal, etiological and age distribution of cases. The role of genetic involvement in the mechanism of CwG is not yet well understood. In this report we present a case of a 3-year-old boy with convulsions with mild gastroenteritis and “de novo” heterozygous variant in NTRK2 gene that was classified as benign. The clinical context with developmental delay and dysmorphic features suggests, however, a possible genetic cause in this case. Further comprehensive re-evaluation of sequencing data, possibly with additional clinical information, is advised.