A Case of Pitt-Hopkins Syndrome With Absence of Hyperventilation. (December 2013)

• Record Type: Journal Article
• Authors: Inati, Adlette; Abbas, Hussein A.; Korjian, Serge; Daaboul, Yazan; Harajeily, Mohamad; Saab, Raya
• Is Part Of: Journal of child neurology. Volume 28:Number 12(2013)
• Page Start: 1698
• Page End: 1701
• Publication Date: 2013-12
• Subjects: Pitt-Hopkins syndrome -- TCF4 -- hyperventilation -- 18-q syndrome; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073812468054
• Languages: English
• ISSNs: 0883-0738

Abstract

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.