Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.

Abstract:

: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.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

De Pontual L,Trochet D,Caillat-Zucman S,Abou Shenab OA,Bougneres P,Crow Y,Cunningham S,Esteva B,Heberle LC,Leger J,Pinto G,Polak M,Shafik MH,Straus C,Trang H,Munnich A,Lyonnet S,Desguerre I,Amiel J

doi

10.1203/PDR.0b013e318187dd0e

subject

Has Abstract

pub_date

2008-12-01 00:00:00

pages

689-94

issue

6

eissn

0031-3998

issn

1530-0447

journal_volume

64

pub_type

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