Ondine curse and neurocristopathy

doi:10.1016/0887-8994(87)90011-7

Pediatric Neurology

Volume 3, Issue 6, November–December 1987, Pages 370-372

https://doi.org/10.1016/0887-8994(87)90011-7 Get rights and content

Abstract

Two newborns, 1 male and 1 female, had both Ondine curse, also known as congenital, central hypoventilation syndrome, and Hirschsprung disease. Both infants demonstrated insufficient respiration while asleep and normal respiration when awake. The lesser affected child had an otherwise normal neurologic examination, but suffered from seizures. He died at 18 months of age; neuropathologic examination of the brain was unremarkable. The girl had a severe and ultimately fatal form of this disorder and manifested a variety of neurologic abnormalities indicative of developmental failure of the neural crest-derived tissues. These abnormalities included unreactive pupils and deafness. She died at 40 days of age; autopsy permission was denied. The etiology of sleep apnea is not known. Mechanisms of central integration may be abnormal but the association with neural crest maldevelopment implicates the peripheral nervous system.

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Cited by (18)

Congenital central hypoventilation syndrome: An overview of etiopathogenesis, associated pathologies, clinical presentation, and management
2018, Autonomic Neuroscience: Basic and Clinical
Citation Excerpt :
To reiterate, CCHS is characterized by abnormal control of respiration in the absence of pulmonary, lung, metabolic, neuromuscular, cardiac disease, or brainstem lesions (Samdani et al., 2007). CCHS is caused by genetic mutation while acquired central hypoventilation syndrome (ACHS) occurs, though less typically, as a product of neurological trauma, brainstem ischemia, mass, infection, demyelinating disease, or anoxic-ischemic damage (Poceta et al., 1987; Heckmann and Ernst, 2014). The CCHS diagnosis may be delayed because of fluctuations in the severity of its symptoms and presentation.
Congenital central hypoventilation syndrome (CCHS), known colloquially as Ondine's curse, is a rare disorder characterized by impaired autonomic control of breathing during sleep from the loss of vagal input and diminished sensitivity of CO₂ receptors in the medulla. CCHS correlates to the malformation of the neural crest located in the brainstem; this consequently affects the loss of sensitivity of CO₂ chemoreceptors, bringing about hypoventilation during sleep. The primary cause of CCHS is the mutation of the paired-like homeobox PHO2XB gene, found in 90% of the patients. This mutation not only affects breathing but also drives neurological abnormalities such as autonomic and neurocognitive dysfunction. Though typically congenital, there have been late-onset (i.e., acquired) cases reported. It is vital for physicians and clinicians to be able to diagnose CCHS due to its similar presentation to other syndromes and disorders, which may cause it to be misdiagnosed and may account for its deleterious effects. CCHS can lead to a constellation of symptoms, and consideration of diseases that present concomitantly with CCHS affords us a better understanding of the etiology of this illness. Although a rare syndrome, we aim to review the current literature to emphasize the pathogenesis, etiology, clinical presentation, symptoms, diagnosis, and current treatment methods of CCHS for clinicians to better identify and understand this condition.
Hypotonia and Weakness: Level of the Muscle
2018, Volpe's Neurology of the Newborn
Disorders of muscle account for a substantial proportion of infants affected with hypotonia and weakness. Although a relatively large number of myopathic disorders may cause manifestations in the neonatal period, only a few disorders account for most of the cases observed. Myotonic dystrophy is the most frequent. Myopathic disorders with nondiagnostic histology include congenital muscular dystrophy, facioscapulohumeral dystrophy, polymyositis, and minimal change myopathy; those with a diagnostic histology include core myopathies, nemaline myopathy, myotubular myopathy, congenital fiber type disproportion, mitochondrial myopathies, and metabolic myopathies. Several disorders of the neuromuscular apparatus are restricted to a small portion of the motor system; restricted disorders that are not established as caused principally by trauma are considered in this chapter. Detection of any of these disorders is valuable for purposes of genetic counseling, determination of prognosis, and institution of therapy.
Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease
2003, Pediatric Neurology
Neurocristopathies are a group of diverse disorders resulting from defective growth, differentiation, and migration of the neural crest cells. Hirschsprung’s disease, namely aganglionic megacolon, is the consequence of defective migration of neural crest cells on to the colonic submucosa and is therefore considered a neurocristopathy. We report on four children in whom was diagnosed a neurocristopathy, associating Hirschsprung’s disease with a wide spectrum of neurologic abnormalities. The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, microcephaly, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child. The third newborn presented with the Haddad syndrome: short-segment Hirschsprung’s disease associated with the congenital central hypoventilation syndrome requiring permanent artificial ventilation. In the fourth child, absence of the corpus callosum was associated with mild dysmorphic features, borderline cognitive abilities, and attention-deficit disorder. Therefore, awareness of a possible neurocristopathy associated with neurologic abnormalities should be taken into account in any patient newly diagnosed with Hirschsprung’s disease to detect the abnormalities early and promptly manage them. A thorough neurologic examination and a developmental assessment, including magnetic resonance imaging of the brain and electroencephalography, should be performed for any child presenting with an aganglionic megacolon, especially those presenting with seizures, developmental delay, or even congenital hypoventilation.
Hirschsprung's disease associated with Ondine's curse: Report of three cases and review of the literature
1994, Journal of Pediatric Surgery
The cases of three full-term infant girls with both Hirschsprung's disease (HD) and Ondine's curse (OC) are presented, and the relevant literature is reviewed. All three patients required endotracheal intubation and assisted ventilation during the first 24 hours of life because of respiratory distress. The diagnosis of HD was subsequently established at age 13, 16, and 20 days, respectively. The aganglionic segment was confined to the rectum in one case, extended to the splenic flexure of the colon in the second case, and involved the terminal ileum in the third. The definitive treatment (endorectal pull-through) was completed successfully in all three patients, and the postoperative follow-up period was 3 to 34 months. All of them presently have tracheostomies and are maintained on home ventilation. They tolerate being off the ventilator while awake, and have nearly normal bowel habits and growth curves. Two have bilateral ciliary ganglion dysfunction, and one has strabismus. Based on this review, the authors conclude the following. (1) The incidence of the HD associated with OC may be more common than is generally believed (1.8% of all their HD patients have OC). (2) OC should be suspected in any newborn with HD who requires assisted ventilation in the absence of major cardiopulmonary abnormalities. Likewise, HD should be ruled out in any OC case with gastrointestinal dysfunction. (3) Contrary to the previous impression from the literature, the combination of OC and HD should not be considered fatal, because most such patients can be managed successfully and have a reasonable quality of life. (4) The significant association of HD, OC, and ocular anomalies in all three of the authors' patients further substantiates the syndromic nature of this association, which should alert the clinician to perform regular screening for other possible neurocristopathies such as neuroblastoma.
An unusual ophthalmologic finding in a patient with congenital central hypoventilation syndrome
2024, European Journal of Ophthalmology
Muscle Involvement and Restricted Disorders
2017, Volpe's Neurology of the Newborn

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Case reportOndine curse and neurocristopathy

Abstract

Lancet

Hum Pathol

Congenital failure of automatic control of ventilation, gastrointestinal motility, and heart rate

Medicine

Ondine's curse and neurocristopathy

Clin Pediatr

Congenital central alveolar hypoventilation syndrome in six infants

Pediatrics

Hirschsprung disease in a large birth cohort

Teratology

Case report
Ondine curse and neurocristopathy