Abstract
Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder characterized by a molecular variant in the TCF4 gene involved in neuronal differentiation during embryonic development. Patients with PTHS present with syndromic facies, psychomotor retardation and intellectual disability. In addition, they may present with early-onset myopia, seizures, constipation, and episodes of hyperventilation and apnea. Some cases also meet criteria for autism spectrum disorder. In this article, we review the current literature on Pitt-Hopkins syndrome and present the first molecularly diagnosed case in the Dominican Republic. The patient in question exhibits typical facial features and a pattern of developmental delay consistent with PTHS. To date, no molecularly confirmed case of PTHS has been reported in the Dominican Republic, which makes this case an important contribution to scientific knowledge in the country.
Published Version (
Free)
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call