• Adlette Inati, Hussein A Abbas, Serge Korjian, Yazan Daaboul, Mohamad Harajeily, and Raya Saab.
• 1Department of Pediatrics, Lebanese American University and University Medical Center Rizk Hospital, Beirut, Lebanon.
• J. Child Neurol. 2013 Dec 1;28(12):1698-701.

AbstractPitt-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.

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