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. © The Author(s) 2012.

Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome / Maini, I.; Cantalupo, G.; Turco, E. C.; Paolis, F. D.; Magnani, C.; Parrino, L.; Terzano, M. G.; Pisani, F.. - In: JOURNAL OF CHILD NEUROLOGY. - ISSN 0883-0738. - 27:12(2012), pp. 1585-1588. [10.1177/0883073811435917]

Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome

Pisani F.
2012

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. © The Author(s) 2012.
2012
central apneas; clinical neurophysiology; mental retardation; Pitt- Hopkins; valproate
01 Pubblicazione su rivista::01a Articolo in rivista
Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome / Maini, I.; Cantalupo, G.; Turco, E. C.; Paolis, F. D.; Magnani, C.; Parrino, L.; Terzano, M. G.; Pisani, F.. - In: JOURNAL OF CHILD NEUROLOGY. - ISSN 0883-0738. - 27:12(2012), pp. 1585-1588. [10.1177/0883073811435917]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1669865
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