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• W2040285536 abstract "The idiopathic congenital central hypoventilation syndrome (CCHS) was first described by Mellins et al 1 and is characterised by an alteration of the ventilatory response to hypercapnia and hypoxia.1 Whereas normal ventilation is adequate in many of the patients during wakefulness, the alveolar hypoventilation observed during sleep seems attributable to a failure of the central autonomic control of ventilation in the brainstem.2 CCHS is a rare entity in which affected children show symptoms typically in the newborn period. These symptoms include a period of cyanosis upon sleep induction, a decrease of oxyhaemoglobin saturation with simultaneous life threatening increase of the partial pressure of CO2 in arterial blood (PaCO2), which yields no respiratory response, and no arousal reflex by the infants. Primary neuromuscular, lung, or cardiac disorders or an identifiable brainstem lesion are absent.3 The first extensive series of CCHS patients was described by Weese-Mayer et al 4 in 1992.The apparent functional defect possibly stems from an abnormal migration or differentiation of neural crest derived cells into the autonomic ventilatory control system. Therefore, idiopathic congenital central hypoventilation syndrome may be regarded as a feature of complex neurocristopathies, as confirmed by the observation of a combination of CCHS and other neurocristopathies.5 Specifically, CCHS has been reported in association with neoplastic as well as dysgenetic neurocristopathies, such as neuroblastomas6 and ganglioneuromas,7 but the frequency of such cases is lower than 5%. Furthermore, in 16-20% of the patients, CCHS is combined with Hirschsprung disease (HSCR), a developmental disorder characterised by congenital absence of ganglion cells in the myoenteric and submucosal plexuses of the bowel.6,8–16Although most CCHS cases are sporadic, a putative genetic origin for CCHS has also been considered because of the familial occurrence in several reported cases, such as monozygotic …" @default.
• W2040285536 created "2016-06-24" @default.
• W2040285536 creator A5018623489 @default.
• W2040285536 date "2003-02-01" @default.
• W2040285536 modified "2023-10-01" @default.
• W2040285536 title "Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients" @default.
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• W2040285536 doi "https://doi.org/10.1136/jmg.40.2.e10" @default.
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