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Volume 13 No. 11
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Accepted Papers

Case Reports

Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

Schaida Schirwani, MBChB, MSc, MRCP1; Karen Pysden, MBChB, MRCPCH2; Philip Chetcuti, DM, FRCPCH3; Moira Blyth, MBChB, FRCP, DM, PGDip1
1Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom; 2Department of Paediatric Neurology, Leeds General Infirmary, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom; 3Department of Respiratory Paediatrics, Leeds General Infirmary, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom

Pathogenic variants in Paired-Like Homeobox 2B (PHOX2B) gene cause congenital central hypoventilation syndrome (CCHS), a rare disorder of the nervous system characterized by absent or reduced ventilatory response to hypoxia and hypercapnia. The focus of management in CCHS is optimizing ventilation. Thus far, no medication has proved effective in improving ventilation. Most CCHS cases are caused by polyalanine repeat expansion mutations. Non-polyalanine repeat expansion mutations are the cause in 8% of cases and result in a more severe clinical presentation. PHOX2B has 3 exons. Exon 3 of PHOX2B is the most common location for CCHS-causing mutations. Thus far, only 9 CCHS-causing mutations have been reported in exon 1, 8 of which were nonsense mutations. We report a child with CCHS who was found to have a novel heterozygous missense variant in exon 1; c.95A > T. Improvement in his apneic episodes was observed following treatment with carbamazepine.


Schirwani S, Pysden K, Chetcuti P, Blyth M. Carbamazepine improves apneic episodes in congenital central hypoventilation syndrome (CCHS) with a novel PHOX2B exon 1 missense mutation. J Clin Sleep Med. 2017;13(11):1359–1362.

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