title: Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome.
abstract: Pitt-Hopkins syndrome is a rare genetic form of severe psychomotor delay, caused by mutations in transcription cell factor-4 gene and characterized by distinctive dysmorphic features and abnormal breathing pattern. The current report describes the polygraphic features of the syndrome's typical breathing pattern in a patient both in wakefulness and in sleep. The control of these breathing alterations is important to prevent the neurological sequelae linked to chronic cerebral hypoxemia in early ages. No data are available on effective treatment options for breathing abnormalities of Pitt-Hopkins syndrome. The authors polygraphically documented a reduction of apneic and hypopneic phenomena, with a significant improvement in saturation values, after the introduction of sodium valproate.
authors.affiliation: Child Neuropsychiatry Unit, University of Parma, Parma, Italy.
authors.forename: Ilenia
authors.initials: I
authors.lastname: Maini
authors.forename: Gaetano
authors.initials: G
authors.lastname: Cantalupo
authors.forename: Emanuela Claudia
authors.initials: EC
authors.lastname: Turco
authors.forename: Fernando
authors.initials: F
authors.lastname: De Paolis
authors.forename: Cinzia
authors.initials: C
authors.lastname: Magnani
authors.forename: Liborio
authors.initials: L
authors.lastname: Parrino
authors.forename: Mario Giovanni
authors.initials: MG
authors.lastname: Terzano
authors.forename: Francesco
authors.initials: F
authors.lastname: Pisani
mesh_terms: D002648:Child; D004569:Electroencephalography; D004791:Enzyme Inhibitors / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D012120:Respiration Disorders / Q000188:drug therapy* / Q000209:etiology; D012894:Sleep Stages; D014635:Valproic Acid / Q000627:therapeutic use*; D054877:Wolf-Hirschhorn Syndrome / Q000150:complications
chemical_list: D004791:Enzyme Inhibitors; D014635:Valproic Acid