Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis

Abstract

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.

Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap

“…Alk3, the receptor of BMP, controls the regulation of Phox2b, and the absence of Phox2b might explain the absence of sympathetic nervous system precursors in Alk3 knockout embryos [200]. Its contribution to the development of the mouse's sympathetic nervous system is achieved by leading neural progenitors that arise from the neural crest to stop proliferating and start differentiating into neurons [201]. Phox2b promotes the formation of motor neurons during embryogenesis, while after birth, it is distributed in the medulla (together with medullary cells that are present in the adrenal glands) and the pons [201][202][203].…”

“…Its contribution to the development of the mouse's sympathetic nervous system is achieved by leading neural progenitors that arise from the neural crest to stop proliferating and start differentiating into neurons [201]. Phox2b promotes the formation of motor neurons during embryogenesis, while after birth, it is distributed in the medulla (together with medullary cells that are present in the adrenal glands) and the pons [201][202][203]. Along with Phox2a, they are present in the autonomic ganglia and sensory ganglia of the skull [204], with Phox2b also being responsible for the development of the carotid body and other chemoreceptors that regulate the function of the ventilation center by recognizing levels of carbon dioxide [205].…”