TY - JOUR T1 - European Union standard for tuberculosis care on treatment of multidrug-resistant tuberculosis following publication of the new World Health Organization recommendations JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.01617-2018 SP - 1801617 AU - Giovanni Battista Migliori AU - Giovanni Sotgiu AU - Senia Rosales-Klintz AU - Marieke J. van der Werf Y1 - 2018/01/01 UR - http://erj.ersjournals.com/content/early/2018/09/06/13993003.01617-2018.abstract N2 - The Congenital Central Hypoventilation Syndrome (CCHS), also known as Ondine’s curse, is a rare disorder characterised by severe hypoventilation during sleep and autonomic dysregulation [1,2]. The incidence of CCHS is about 1/200,000 live births. In more than 90% of cases, polyalanine repeat expansion (PolyALA) mutations are present in the paired-like homeobox PHOX-2B gene, although a frameshift variant (FS) may also be found [3]. The PHOX-2B gene encodes a highly conserved homeobox domain transcription factor which plays a regulatory role in the differentiation of the motor neuron and the serotonergic neuronal fate in the development of the central nervous system [4]. The hallmark of CCHS is the “forgotten breathing”, which implies the need for life-long mechanical ventilation during sleep. However, in more severe cases characterised by global hypoventilation, mechanical ventilation must also be extended during wakefulness.FootnotesThis manuscript has recently been accepted for publication in the European Respiratory Journal. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article.Conflict of interest: Dr. Giovanni Battista Migliori has nothing to disclose.Conflict of interest: Dr. Sotgiu has nothing to disclose.Conflict of interest: Dr. Rosales-Klintz has nothing to disclose.Conflict of interest: Dr. van der Werf has nothing to disclose. ER -