Overlap of the Pitt–Hopkins and Lennox–Gastaut syndromes

Excerpt

Pitt–Hopkins syndrome (PTHS) is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures and distinctive facial features. Other features may include constipation, microcephaly, myopia, strabismus, short stature, and minor brain abnormalities. Affected individuals may also have small hands and feet, a single crease across the palms of the hands, flat feet (pes planus), or unusually fleshy pads at the tips of the fingers and toes [1, 2]. It is thought to be a very rare condition, with approximately 500 affected reported individuals worldwide. PTHS is an autosomal dominant disorder caused by mutations in the TCF4 gene. This gene encodes a protein that binds to specific regions of DNA to help control the activity of many other genes. The TCF4 protein plays a role in cell differentiation and maturation, as well as apoptosis [1, 2]. Considering the fact that this is a rare genetic disorder, differentiation from other diseases with psychomotor disability and epilepsy represents a diagnostic challenge. Given a small number of cases, this brings up the question about the type, frequency and treatment of epileptic seizures in this syndrome. …