Author: Bary Bigay Mercedes
About this article
Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder caused by a mutation in the TCF4 gene, crucial for neuronal development. PTHS patients display distinct facial features, psychomotor retardation, intellectual disabilities, and various associated symptoms such as myopia, seizures, and constipation. Some cases also show signs of autism spectrum disorder.
This article provides an overview of existing literature on PTHS and introduces the first molecularly diagnosed case of PTHS in the Dominican Republic. The patient exhibits typical facial characteristics and developmental delays consistent with PTHS. Notably, this case represents a significant contribution to the scientific knowledge in the Dominican Republic as no molecularly confirmed PTHS cases have been reported in the country until now.
The identification of a molecularly confirmed PTHS case in the Dominican Republic is crucial for advancing understanding about this rare genetic disorder within the country. By adding to the scientific knowledge base, this case aids future research, diagnosis, and potentially treatment strategies for individuals affected by PTHS in the region.