To the Editor: The March 2012 paper titled “Progressive gray matter changes in patients with congenital central hypoventilation syndrome” by Kumar et al. commendably attempts to address long-term neurological manifestations of congenital central hypoventilation syndrome (CCHS) (1). However, as a CCHS patient (N.R.L.) and as undergraduate biomedical researchers, we believe the authors’ neglect of critical aspects of the diagnosis and management of CCHS raises questions about the validity and value of their study.

CCHS is a rare autosomal dominant autonomic nervous system disorder characterized by hypoventilation, resulting from a mutation in the paired-like homeobox gene PHOX2B (2,3,4,5). A close correlation exists between genotype and phenotype, with structure-disrupting nonpolyalanine repeat expansion mutations (NPARMs) and longer polyalanine repeat expansion mutations (PARMs) giving rise to more severe and multisystemic phenotypes than shorter PARMs or structure-preserving NPARMs (2,4). Proper clinical management is essential from infancy through adulthood; in particular, insufficient ventilatory support associated with hypoxia and hypercapnia inevitably translates to poor patient outcomes (6).

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