BIOMAT Database Logo BIOMAT Database Logo

Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis. 2021

Marta Ditmer, and Szymon Turkiewicz, and Agata Gabryelska, and Marcin Sochal, and Piotr Białasiewicz
Department of Sleep Medicine and Metabolic Disorders, Medical University of Lodz, 92-215 Lodz, Poland.

Congenital central hypoventilation syndrome (CCHS), also known as Ondine's curse, is a rare, potentially fatal genetic disease, manifesting as a lack of respiratory drive. Most diagnoses are made in pediatric patients, however late-onset cases have been rarely reported. Due to the milder symptoms at presentation that might easily go overlooked, these late-onset cases can result in serious health consequences later in life. Here, we present a case report of late-onset CCHS in an adolescent female patient. In this review we summarize the current knowledge about symptoms, as well as clinical management of CCHS, and describe in detail the molecular mechanism responsible for this disorder.

UI MeSH Term Description Entries
D007040 Hypoventilation A reduction in the amount of air entering the pulmonary alveoli. Hypoventilations
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D012891 Sleep Apnea Syndromes Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types. Apnea, Sleep,Hypersomnia with Periodic Respiration,Sleep-Disordered Breathing,Mixed Central and Obstructive Sleep Apnea,Sleep Apnea, Mixed,Sleep Apnea, Mixed Central and Obstructive,Sleep Hypopnea,Apnea Syndrome, Sleep,Apnea Syndromes, Sleep,Apneas, Sleep,Breathing, Sleep-Disordered,Hypopnea, Sleep,Hypopneas, Sleep,Mixed Sleep Apnea,Mixed Sleep Apneas,Sleep Apnea,Sleep Apnea Syndrome,Sleep Apneas,Sleep Apneas, Mixed,Sleep Disordered Breathing,Sleep Hypopneas
D020182 Sleep Apnea, Central A condition associated with multiple episodes of sleep apnea which are distinguished from obstructive sleep apnea (SLEEP APNEA, OBSTRUCTIVE) by the complete cessation of efforts to breathe. This disorder is associated with dysfunction of central nervous system centers that regulate respiration. Apnea, Sleep, Central,Central Sleep Apnea,Hypoventilation, Central Alveolar,Ondine Syndrome,Sleep-Disordered Breathing, Central,Apnea, Central,Apnea, Central Sleep,Central Alveolar Hypoventilation Syndrome,Central Sleep Apnea Syndrome,Central Sleep Apnea, Primary,Central Sleep Apnea, Secondary,Central Sleep Disordered Breathing,Newborn Primary Sleep Apneas,Primary Central Sleep Apnea,Primary Sleep Apneas of Newborn,Secondary Central Sleep Apnea,Sleep Apnea, Lethal Central,Sleep Apnea, Newborn, Primary,Alveolar Hypoventilation, Central,Alveolar Hypoventilations, Central,Apneas, Central,Apneas, Central Sleep,Breathing, Central Sleep-Disordered,Breathings, Central Sleep-Disordered,Central Alveolar Hypoventilation,Central Apnea,Central Apneas,Central Sleep Apneas,Central Sleep-Disordered Breathing,Central Sleep-Disordered Breathings,Hypoventilations, Central Alveolar,Sleep Apneas, Central,Sleep Disordered Breathing, Central,Sleep-Disordered Breathings, Central

Related Publications

Marta Ditmer, and Szymon Turkiewicz, and Agata Gabryelska, and Marcin Sochal, and Piotr Białasiewicz
Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?
June 2023, Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine,
Marta Ditmer, and Szymon Turkiewicz, and Agata Gabryelska, and Marcin Sochal, and Piotr Białasiewicz
Congenital central hypoventilation syndrome: diagnosis and management.
April 2018, Expert review of respiratory medicine,
Marta Ditmer, and Szymon Turkiewicz, and Agata Gabryelska, and Marcin Sochal, and Piotr Białasiewicz
Congenital central hypoventilation syndrome: an update.
October 1998, Pediatric pulmonology,
Marta Ditmer, and Szymon Turkiewicz, and Agata Gabryelska, and Marcin Sochal, and Piotr Białasiewicz
Congenital central hypoventilation syndrome.
November 2013, Respiratory physiology & neurobiology,
Marta Ditmer, and Szymon Turkiewicz, and Agata Gabryelska, and Marcin Sochal, and Piotr Białasiewicz
[Congenital central hypoventilation syndrome].
October 2016, Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases,
Marta Ditmer, and Szymon Turkiewicz, and Agata Gabryelska, and Marcin Sochal, and Piotr Białasiewicz
Congenital central hypoventilation syndrome.
October 2007, Indian journal of pediatrics,
Marta Ditmer, and Szymon Turkiewicz, and Agata Gabryelska, and Marcin Sochal, and Piotr Białasiewicz
[Congenital central alveolar hypoventilation syndrome].
January 2015, Boletin medico del Hospital Infantil de Mexico,
Marta Ditmer, and Szymon Turkiewicz, and Agata Gabryelska, and Marcin Sochal, and Piotr Białasiewicz
Hematocolpos as an easily overlooked diagnosis.
June 1999, Current opinion in pediatrics,
Marta Ditmer, and Szymon Turkiewicz, and Agata Gabryelska, and Marcin Sochal, and Piotr Białasiewicz
An Easily Overlooked Disease: Hemophagocytic Syndrome.
November 2023, Clinical laboratory,
Marta Ditmer, and Szymon Turkiewicz, and Agata Gabryelska, and Marcin Sochal, and Piotr Białasiewicz
Monosomy 8p: an easily overlooked syndrome.
April 1986, Journal of medical genetics,
Copied contents to your clipboard!