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Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome
E S Katz1, S McGrath, C L Marcus
1Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University, Baltimore, Maryland, USA.
Insights
Late-onset central hypoventilation syndrome (LO-CHS) with hypothalamic dysfunction (HD) is distinct from congenital central hypoventilation syndrome (CCHS). Nasal intermittent positive pressure ventilation (NIPPV) effectively treated a case of LO-CHS/HD.
Area of Science:
- Pediatric Pulmonology
- Neurology
- Endocrinology
Background:
- Idiopathic central hypoventilation can manifest after infancy as late-onset central hypoventilation syndrome (LO-CHS).
- The distinction between LO-CHS and congenital central hypoventilation syndrome (CCHS) remains unclear.
- Both syndromes are linked to neural crest tumors and typically present with a normal central nervous system.
Observation:
- Late-onset central hypoventilation syndrome (LO-CHS) has been associated with hypothalamic dysfunction (HD) in multiple case reports.
- Symptoms of hypothalamic dysfunction include hyperphagia, hypersomnolence, thermal dysregulation, emotional lability, and endocrinopathies.
- A case of LO-CHS/HD successfully treated with nasal intermittent positive pressure ventilation (NIPPV) is presented.
Findings:
- Late-onset central hypoventilation syndrome with hypothalamic dysfunction (LO-CHS/HD) exhibits distinct features from congenital central hypoventilation syndrome (CCHS).
- Key differentiating factors include the age of presentation and the presence of hypothalamic dysfunction symptoms, which are absent in CCHS.
- A literature review was conducted to delineate the full spectrum of LO-CHS/HD.
Implications:
- LO-CHS/HD is proposed as a distinct clinical entity separate from CCHS.
- Understanding LO-CHS/HD is crucial for accurate diagnosis and management in affected children.
- Nasal intermittent positive pressure ventilation (NIPPV) offers a potential treatment modality for LO-CHS/HD.
Abstract:
Idiopathic central hypoventilation has occasionally been reported in previously well children after infancy. The relationship between this late-onset central hypoventilation syndrome (LO-CHS) and congenital central hypoventilation syndrome (CCHS) has not been established. Both CCHS and LO-CHS have been associated with neural crest tumors, such as ganglioneuroblastoma and ganglioneuroma, and they generally occur in the presence of a histologically normal central nervous system. At least 10 case reports of idiopathic LO-CHS featured evidence of hypothalamic dysfunction (HD), including hyperphagia, hypersomnolence, thermal dysregulation, emotional lability, and endocrinopathies. We report on a case of LO-CHS/HD successfully treated by nasal intermittent positive pressure ventilation (NIPPV). Despite the commonalties with CCHS, we propose that LO-CHS/HD is a distinct clinical syndrome. In addition to the markedly different age at presentation, features of hypothalamic dysfunction are not seen in CCHS. Review of the literature was undertaken to further clarify the full spectrum of the disease.