Abstract
Background : Pitt-Hopkins syndrome (PTHS) is a heterogeneous neurodevelopmental disorder, characterized by intellectual disability, distinctive facial features, and significant autonomic nervous system dysfunction. It is caused by variants in the transcription factor Tcf4. Methods/Observation : We report the first case of PTHS in Morocco, involving a 3-year-old child who presents with the typical features of PTHS, recurrent epilepsy, and a posterior fossa malformation consistent with Dandy-Walker syndrome, along with complete agenesis of the corpus callosum. Standard karyotype analysis and CGH-array confirmed the diagnosis, revealing a de novo terminal deletion of 27.894 kb on the long arm of chromosome 18. High-throughput sequencing is currently underway. Conclusion : Once PTHS is clinically suspected, the diagnosis should be confirmed through molecular genetic testing of the Tcf4 gene. Keywords : Pitt-Hopkins Syndrome, 18q deletion, Tcf4, de Novo, epilepsy.
Published Version
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