John Libbey Eurotext

Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome Volume 22, numéro 5, October 2020

Illustrations

  • Figure 1
  • Figure 2
Auteurs
1 Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan
2 Hakuai Child Development, Home Care Support Clinic, Yonago, Japan
3 Clinical Examination Department, Faculty of Health Sciences, Kagawa Prefectural University of Health Sciences, Takamatsu, Japan
4 Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan
* Correspondence: Hiroyuki Yamada Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan

Patients with Pitt-Hopkins syndrome (PTHS) present with characteristic non-epileptic breathing abnormalities during wakefulness. The most common breathing abnormality is paroxysm associated with hyperventilation, followed by cyanotic breath-holding spells while awake. Apnoea and hyperventilation may occur independently of each other. In a previous study, nearly half of the patients with PTHS presented with these respiratory disturbances (Peippo et al., 2006; Whalen et al., 2012). However, there have [...]