title: A case of Pitt-Hopkins syndrome with absence of hyperventilation.
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 2&frac12;-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.
authors.affiliation: 1Department of Pediatrics, Lebanese American University and University Medical Center Rizk Hospital, Beirut, Lebanon.
authors.forename: Adlette
authors.initials: A
authors.lastname: Inati
authors.forename: Hussein A
authors.initials: HA
authors.lastname: Abbas
authors.forename: Serge
authors.initials: S
authors.lastname: Korjian
authors.forename: Yazan
authors.initials: Y
authors.lastname: Daaboul
authors.forename: Mohamad
authors.initials: M
authors.lastname: Harajeily
authors.forename: Raya
authors.initials: R
authors.lastname: Saab
mesh_terms: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics; D002675:Child, Preschool; D004832:Epilepsy, Absence / Q000209:etiology*; D019066:Facies; D006801:Humans; D006985:Hyperventilation / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D000073940:Transcription Factor 4; D014157:Transcription Factors / Q000235:genetics
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C532096:TCF4 protein, human; D000073940:Transcription Factor 4; D014157:Transcription Factors