A case of late-onset central hypoventilation syndrome with hypothalamic dysfunction: through a new phenotype

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					The Turkish Journal of Pediatrics 2010; 52: 198-202                                                        Case



A case of late-onset central hypoventilation syndrome with
hypothalamic dysfunction: through a new phenotype
Hasan Önal1, Atilla Ersen2
Departments of Pediatrics, 1Ministry of Health Bakırköy Research and Training Hospital, and 2Kasımpaşa Military
Hospital, İstanbul, Turkey


                            SUMMARY: Önal H, Ersen A. A case of late-onset central hypoventilation
                            syndrome with hypothalamic dysfunction: through a new phenotype. Turk J
                            Pediatr 2010; 52: 198-202.
                            Congenital central hypoventilation syndrome (CCHS) is a rare disorder
                            with uncertain nosology that usually presents early in life. The syndrome is
                            characterized by ventilatory response impairment to carbon dioxide and may
                            result in respiratory failure at birth. Recent reports have identified a similar
                            clinical presentation beyond infancy called late-onset central hypoventilation
                            syndrome (LO-CHS) as a disease continuum of CCHS with similar and
                            overlapping pathophysiology. However, some have proposed that the syndrome
                            accompanied by hypothalamic dysfunction (HD) be classified as a distinct
                            clinical entity, LO-CHS/HD.
                            To the best of our knowledge, the case reported herein is the oldest case
                            of LO-CHS/HD in childhood, at 13 years old. He suffered from recurrent
                            pulmonary edema, acute convulsive seizures, hypersomnia, hyperphagia, obesity,
                            impaired glucose tolerance test, and hypercapnia, diagnosed as LO-CHS/HD,
                            and was successfully treated with nasal bi-level positive airway pressure.
                            Key words: late-onset central hypoventilation syndrome, hypothalamic dysfunction,
                            late childhood, bi-level positive airway pressure (BiPAP).




Central hypoventilation syndrome (CHS) is                  features of LO-CHS/HD included the sudden
a rare disorder characterized by persistent                onset of hyperphagia/obesity in previously
central alveolar hypoventilation. It is termed             well children, hypercapnic respiratory failure
congenital central hypoventilation syndrome                and HD without identifiable central nervous
(CCHS) due to the age onset with absent                    system lesions. Although there is a debate
hypercapnic ventilatory response during                    on consensus regarding description of these
infancy, and is worsened by sleep without any              syndromes, distinction of LO-CHS/HD and
evidence of underlying pathology of pulmonary,             CCHS has been emphasized3-5.
cardiac or primary neuromuscular diseases1.
                                                           This article aimed to describe a patient with
Late-onset central hypoventilation syndrome
                                                           LO-CHS/HD diagnosed at the age of 13 years
(LO-CHS) is a disease continuum of CCHS
                                                           who was successfully treated with nasal bi-
presenting later in life with similar genetic
                                                           level positive airway 
				
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