A Case of Pitt-Hopkins Syndrome With Absence of Hyperventilation

Inati, Adlette MD
Abbas, Hussein A. PhD
Korjian, Serge BSc
Daaboul, Yazan BSc
Harajeily, Mohamad MSc
Saab, Raya MD

¹Department of Pediatrics, Lebanese American University and University Medical Center Rizk Hospital, Beirut, Lebanon
²Department of Pediatrics, Rafic Hariri University Hospital, Beirut, Lebanon
³American University of Beirut, Faculty of Medicine, Beirut, Lebanon

Adlette Inati, MD, Division of Pediatric Hematology-Oncology, Lebanese American University and University Medical Center Rizk Hospital, Beirut, Rafic Hariri University Hospital, Beirut, Lebanon Email: [email protected]

Received September 9, 2012

Received in revised form October 21, 2012

Accepted October 21, 2012

Journal of Child Neurology 28(12):p 1698-1701, December 2013. | DOI: 10.1177/0883073812468054

Pitt-Hopkins syndrome is characterized by mental retardation, hyperventilation, and dysmorphic features due to TCF4 mutations. We report a case of Pitt-Hopkins syndrome in a 2½-year-old boy presenting with psychomotor retardation, recurrent respiratory tract infections, and dysmorphic features with absence of hyperventilation or other breathing abnormalities. Comparative genomic hybridization and quantitative real-time polymerase chain reaction were used to confirm TCF4 haploinsufficiency. Pitt-Hopkins syndrome is a rare debilitating disease that should be in the differential diagnosis of other neurodevelopmental disorders characterized by mental retardation and hypotonicity despite the absence of hyperapnea and seizures. Quantitative real-time polymerase chain reaction is another method to identify TCF4 and to confirm Pitt-Hopkins syndrome diagnosis.