Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a PHOX2B Frameshift Mutation.
J Clin Sleep Med
; 14(8): 1427-1430, 2018 08 15.
Article
en En
| MEDLINE
| ID: mdl-30092902
ABSTRACT
ABSTRACT We report an unusual case of an adult patient carrying a germline PHOX2B frameshift mutation and hence was diagnosed with congenital central hypoventilation syndrome. He came to medical attention after the mutation was identified in his daughter who presented with hypoventilation and a neuroblastoma. Although PHOX2B mutations are usually associated with a phenotype of congenital hypoventilation, severe autonomic dysfunction and neural crest tumors, our patient had no complaints at the time of presentation. At polysomnography we found severe positional hypercapnic central sleep apnea, partly responsive to positional therapy. Eventually, he was titrated to noninvasive ventilation with resolution of the central breathing events and, in hindsight, a more refreshing sleep than before. Clinicians working in sleep medicine need to be aware of the variable expression of this rare condition to prevent late cardiorespiratory and neurocognitive complications.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Factores de Transcripción
/
Proteínas de Homeodominio
/
Apnea Central del Sueño
/
Hipoventilación
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
J Clin Sleep Med
Año:
2018
Tipo del documento:
Article
País de afiliación:
Países Bajos