Non-congenital central hypoventilation with hypothalamic abnormalities (Q41278)

Non-congenital central hypoventilation with hypothalamic dysfunction is a disorder of central control of ventilation. Patients are usually healthy until early childhood (often 2-3 years of age) when they develop hyperphagia and severe obesity, followed by central hypoventilation, which often presents as respiratory failure. Hypothalamic endocrine dysfunction may be characterised by increased or decreased hormone levels and may include one or more of the following: diabetes insipidus, inappropriate antidiuretic hormone hypersecretion, precocious puberty, hypogonadism, hyperprolactinemia, hypothyroidism, and decreased growth hormone secretion, or tumours of neural origin. Mood and behaviour abnormalities, sometimes severe, are often present. Developmental delay or autistic features may be present, but many patients are cognitively normal. Note: A definitive diagnosis requires objective evidence based on polysomnography with carbon dioxide (CO2) monitoring (by arterial, end-tidal or transcutaneous measures).