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Untreatable Fits of Hyperventilation/Apnea in Pitt-Hopkins Syndrome

Author

Listed:
  • Antonio Martínez Monseny

    (Genetic Medicine and Rare Diseases Pediatric Institute (IPER), Hospital Sant Joan de Déu, Barcelona, Spain)

  • María Pilar Póo

    (Neuropediatric Department, Hospital Sant Joan de Déu, Barcelona, Spain)

  • Mercedes Serrano

    (Neuropediatric Department, Hospital Sant Joan de Déu, Barcelona, Spain
    Genetic Medicine and Rare Diseases Pediatric Institute (IPER), Hospital Sant Joan de Déu, Barcelona, Spain
    U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.)

Abstract

Pitt-Hopkins syndrome (PTHS) (MIM#610954, ORPHA2896) is a rare autosomal dominant condition due to TCF4 gene mutation or deletion. PTHS is characterized by distinctive facial features, developmental delay, moderate-to-severe intellectual disability, epilepsy, constipation, and stereotypic movements [1,2]. Peculiarly, episodic hyperventilation and/or breath-holding while awake is presented by more than 50% of patients and less than half of them experience a spontaneous disappearance of these spells without treatment [3].

Suggested Citation

  • Antonio Martínez Monseny & María Pilar Póo & Mercedes Serrano, 2017. "Untreatable Fits of Hyperventilation/Apnea in Pitt-Hopkins Syndrome," Global Journal of Intellectual & Developmental Disabilities, Juniper Publishers Inc., vol. 1(5), pages 86-88, July.
    • Handle: RePEc:adp:jgjidd:v:1:y:2017:i:5:p:86-88
    DOI: 10.19080/GJIDD.2017.01.555573
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