CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (TWO CASES FROM THE SAME FAMILY)

There is described the clinical picture of a rare genetic disease - idiopathic Congenital Central Hypoventilation Syndrome (CCHS), characterized by the disturbance of the autonomous control of breathing, leading to an inadequate response to ventilation, hypercapnia and anoxia of the body. There are presented clinical observations of CCHS in two girls from the same family, who had the classic symptoms of the disease. Correct and timely diagnosis was shown to allow timely provide adequate patient management.

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The control of breathing with reference to congenital central hypoventilation syndrome

Journal of the Royal Society of Medicine ◽

10.1177/014107689809100907 ◽

1998 ◽

Vol 91 (9) ◽

pp. 479-483 ◽

Cited By ~ 3

Author(s):

Frances Child ◽

Jonathan Couriel

Keyword(s):

Control Of Breathing ◽

Congenital Central Hypoventilation Syndrome ◽

Central Hypoventilation ◽

Hypoventilation Syndrome

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Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph182413402 ◽

2021 ◽

Vol 18 (24) ◽

pp. 13402

Author(s):

Marta Ditmer ◽

Szymon Turkiewicz ◽

Agata Gabryelska ◽

Marcin Sochal ◽

Piotr Białasiewicz

Keyword(s):

Genetic Disease ◽

Pediatric Patients ◽

Late Onset ◽

Current Knowledge ◽

Adolescent Female ◽

Congenital Central Hypoventilation Syndrome ◽

Respiratory Drive ◽

Central Hypoventilation ◽

Hypoventilation Syndrome ◽

Made In

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.

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Respiratory and autonomic dysfunction in congenital central hypoventilation syndrome

Journal of Neurophysiology ◽

10.1152/jn.00026.2016 ◽

2016 ◽

Vol 116 (2) ◽

pp. 742-752 ◽

Cited By ~ 23

Author(s):

Thiago S. Moreira ◽

Ana C. Takakura ◽

Catherine Czeisler ◽

Jose J. Otero

Keyword(s):

Transcription Factor ◽

Animal Models ◽

Brain Regions ◽

Control Of Breathing ◽

Congenital Central Hypoventilation Syndrome ◽

Murine Models ◽

Experimental Animal Models ◽

Retrotrapezoid Nucleus ◽

Central Hypoventilation ◽

Hypoventilation Syndrome

The developmental lineage of the PHOX2B-expressing neurons in the retrotrapezoid nucleus (RTN) has been extensively studied. These cells are thought to function as central respiratory chemoreceptors, i.e., the mechanism by which brain Pco2 regulates breathing. The molecular and cellular basis of central respiratory chemoreception is based on the detection of CO2 via intrinsic proton receptors (TASK-2, GPR4) as well as synaptic input from peripheral chemoreceptors and other brain regions. Murine models of congenital central hypoventilation syndrome designed with PHOX2B mutations have suggested RTN neuron agenesis. In this review, we examine, through human and experimental animal models, how a restricted number of neurons that express the transcription factor PHOX2B play a crucial role in the control of breathing and autonomic regulation.

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