Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome

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.