Chest
Congenital Central Hypoventilation Syndrome Associated With Multiple Ganglioneuromas
Section snippets
CASE REPORT
The patient was the product of a full term pregnancy and normal delivery with Apgar score 9,9; she weighed 7 lbs 9 oz. She became dusky two hours after birth and continued to have several apneic spells thereafter. She was admitted to CHLA at the age of one month. She was diagnosed as having CCHS and received a tracheostomy and mechanical assisted ventilation while asleep. Her initial EEG, cranial ultrasound, and CT scan were normal. Cardiac echo done at the age of four months revealed mild
DISCUSSION
The CCHS, synonymous with Ondines curse, is a rare disorder of respiratory control. In the classic form, affected children have adequate minute ventilation during wakefulness but develop progressive hypoxia and hypercapnia during quiet sleep. The primary derangement is believed to result from failure of central chemoreceptors located in the ventrolateral area of the medulla.
The CCH syndrome has been associated with Hirsch-Sprung's disease,1,3,4,5 neuroblastoma,1,2 ganghoneuroblastoma,2and lack
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Cited by (54)
Disorders of Breathing During Sleep
2019, Kendig's Disorders of the Respiratory Tract in ChildrenSleep Disturbances and Behavioral Disturbances in Children and Adolescents
2015, Psychiatric Clinics of North AmericaCitation Excerpt :Symptoms usually start during infancy or early childhood. In addition, 15% to 20% of patients also carry the diagnosis of Hirschsprung disease or neural crest tumors such as neuroblastoma or ganglioneuroma.39,40 Congenital central alveolar hypoventilation syndrome is caused by a genetic mutation in PHOX2B gene, which is transmitted in an autosomal-dominant manner.41,42
Pediatric Sleep-Wake Disorders
2012, Neurologic ClinicsCitation Excerpt :Common sites of neuronal loss and reactive gliosis include the arcuate nucleus in the medulla, the ventrolateral nucleus of the tractus solitarius, nucleus ambiguus, nucleus retroambigualis, the chemosensitive ventral medullary surface, and the nucleus parabrachialis in the dorsolateral pons. Between 15% and 20% of patients with congenital central alveolar hypoventilation have coexisting Hirschsprung disease or neural crest tumors such as neuroblastoma or ganglioneuroma.35,36 Mutations in the PHOX2B gene have been identified in more than 90% of patients with central hypoventilation syndrome.37
Disorders of Breathing During Sleep
2012, Kendig and Chernick's Disorders of the Respiratory Tract in ChildrenCongenital central hypoventilation syndrome in children
2011, Paediatric Respiratory ReviewsCitation Excerpt :The severity of Hirschsprung's disease is often greater in patients with CCHS, with 50% of cases having total colonic aganglionosis, compared to the general population with Hirschsprung's disease where 80% have short segment forms.39 Case reports of tumors of neural crest origin, including mediastinal or abdominal neuroblastoma or ganglioneuromas, have been documented in association with CCHS.39–41 Approximately 5% of CCHS patients will have neural crest tumors.37
Ondine's curse and rare oculomotor abnormalities: A case report
2006, Journal Francais d'Ophtalmologie