Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome

Loic De Pontual*, Delphine Trochet, Sophie Caillat-Zucman, Othman A. Abou Shenab, Pierre Bougneres, Yanick Crow, Steve Cunningham, Blandine Esteva, Lada Cindro Heberle, Juliane Leger, Graziella Pinto, Michel Polak, Magdy Helmy Shafik, Christian Straus, Ha Trang, Arnold Munnich, Stanislas Lyonnet, Isabelle Desguerre, Jeanne Amiel

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Late Onset Central Hypoventilation Syndrome associated with Hypothalamic Dysfunction (LO-CHS/HD) is a distinct entity among the clinical and genetic heterogeneous group of patients with late onset central hypoventilation. Here we report a series of 13 patients with LO-CHS/HD. Rapid onset obesity is the first symptom of HD followed by hypoventilation with a mean delay of 18 mos. The outcome remains poor for this group of patients and would benefit from early diagnosis to anticipate ventilation and possible metabolic disorders. Tumor predisposition is more frequent than initially suspected and as high as 40% in this series. These tumors of the sympathetic nervous system (TSNS) are usually differentiated and do not significantly worsen the prognosis. We report a familial case with recurrence in siblings. The cause underlying LO-CHS/HD remains poorly understood although recurrence in siblings argues for a monogenic disorder. We ruled out PHOX2B, ASCL1, and NECDIN as disease-causing genes by direct sequencing in our series of patients and discuss possible disease-causing mechanisms.

Original languageEnglish
Pages (from-to)689-694
Number of pages6
JournalPediatric Research
Issue number6
Publication statusPublished - Dec 2008


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