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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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