Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome

Tiziana Bachetti, Angela Robbiano, Sara Parodi, Ivana Matera, Elisa Merello, Valeria Capra, Maria Pia Baglietto, Andrea Rossi, Isabella Ceccherini, Giancarlo Ottonello

Research output: Contribution to journalArticlepeer-review


Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy characterized by absence of automatic control of respiration; decreased sensibility to hypoxia and hypercapnia, mainly during sleep; and autosomal dominant inheritance due to heterozygous polyalanine expansions and frameshift mutations in the PHOX2B gene. Because the CCHS phenotype could hide other neurologic diseases, the American Thoracic Society established that the initial evaluation of suspected CCHS should exclude neuroanatomic impairments as the structural basis of the reduced autonomic system function. In this work, we describe the clinical history of two unrelated patients with hypoventilation during sleep and harboring hypoplasia of the pons and a Chiari I malformation, respectively. In both patients, CCHS was diagnosed by detection of PHOX2B polyalanine expansion, suggesting that the American Thoracic Society diagnostic criteria may be too restrictive. Moreover, to exclude a putative role of PHOX2B in non-CCHS neurologic diseases, we have performed PHOX2B mutation screening in a group of individuals with Chiari I malformation, confirming the exclusive role of PHOX2B in the pathogenesis of CCHS.

Original languageEnglish
Pages (from-to)706-709
Number of pages4
JournalAmerican Journal of Respiratory and Critical Care Medicine
Issue number6
Publication statusPublished - 2006


  • Chiari I malformation
  • PHOX2B
  • Sleep disorders

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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