Non-congenital central hypoventilation with hypothalamic abnormalities (Q41278): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Hipoventilação central não congênita com disfunção hipotalâmica é um transtorno do controle central da ventilação. Os pacientes usualmente são saudáveis no início da infância (frequentemente até 2-3 anos de idade) quando eles desenvolvem hiperfagia e obesidade grave, seguidas por hipoventilação central, que se apresenta com frequência como insuficiência respiratória. A disfunção endócrina hipotalâmica pode ser caracterizada por níveis hormonais aumentados ou diminuídos e pode incluir um ou mais dos seguintes: diabetes insipidus, hipersecreção inadequada do hormônio antidiurético, puberdade precoce, hipogonadismo, hiperprolactinemia, hipotireoidismo e secreção diminuída do hormônio do crescimento, ou tumores de origem neural. Alterações comportamentais e do humor, algumas vezes graves, estão frequentemente presentes. Atrasos do desenvolvimento ou características de autismo podem estar presentes, mas muitos pacientes são cognitivamente normais._x000D_ _x000D_ Nota: Um diagnóstico definitivo requer a evidência objetiva baseada na polissonografia com monitorização do dióxido de carbono (CO2) por medida arterial ou expiratória ou transcutânea. | |||
| description / en | description / en | ||
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). | |||
Revision as of 07:23, 13 August 2026
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).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 7A42.2 |
||
| English | Non-congenital central hypoventilation with hypothalamic abnormalities |
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). |
