Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation.

Meylemans, Antoon; Depuydt, Pieter; De Baere, Elfride; Hertegonne, Katrien; Derom, Eric; Dermaut, Bart; Hemelsoet, Dimitri

Meylemans, Antoon; Depuydt, Pieter; De Baere, Elfride; Hertegonne, Katrien; Derom, Eric; Dermaut, Bart; Hemelsoet, Dimitri.

Afiliación

Meylemans A; Department of Neurology, Ghent University Hospital, C.-Heymanslaan 10, 9000, Ghent, Belgium. antoonmeylemans@gmail.com.
Depuydt P; Department of Intensive Care Medicine, Ghent University Hospital, Ghent, Belgium.
De Baere E; Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Hertegonne K; Centre for Sleep Disorders, Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium.
Derom E; Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium.
Dermaut B; Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Hemelsoet D; Department of Neurology, Ghent University Hospital, Ghent, Belgium.

Acta Neurol Belg ; 121(1): 23-35, 2021 Feb.

Article en En | MEDLINE | ID: mdl-32335870

RESUMEN

Central hypoventilation in adult patients is a rare life-threatening condition characterised by the loss of automatic breathing, more pronounced during sleep. In most cases, it is secondary to a brainstem lesion or to a primary pulmonary, cardiac or neuromuscular disease. More rarely, it can be a manifestation of congenital central hypoventilation syndrome (CCHS). We here describe a 25-year-old woman with severe central hypoventilation triggered by analgesics. Genetic analysis confirmed the diagnosis of adult-onset CCHS caused by a heterozygous de novo poly-alanine repeat expansion of the PHOX2B gene. She was treated with nocturnal non-invasive ventilation. We reviewed the literature and found 21 genetically confirmed adult-onset CCHS cases. Because of the risk of deleterious respiratory complications, adult-onset CCHS is an important differential diagnosis in patients with central hypoventilation.

Asunto(s)

Proteínas de Homeodominio/genética; Hipoventilación/congénito; Mutación/genética; Apnea Central del Sueño/diagnóstico por imagen; Apnea Central del Sueño/genética; Factores de Transcripción/genética; Adulto; Edad de Inicio; Femenino; Humanos; Hipoventilación/diagnóstico por imagen; Hipoventilación/genética

Palabras clave

Autonomic; Central congenital hypoventilation syndrome; Hirschsprung disease; Neural crest tumours; PHOX2B; Polyalanine repeat expansion mutation

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Proteínas de Homeodominio / Apnea Central del Sueño / Hipoventilación / Mutación Límite: Adult / Female / Humans Idioma: En Revista: Acta Neurol Belg Año: 2021 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Italia

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