Features of brain bioelectric activity in congenital central hypoventilation syndrome (clinical case)

Abstract

Congenital central hypoventilation syndrome is a rare genetic disorder characterized by a pronounced depression of the respiratory drive. It is pronounced during wakefulness and sleep, but more at night and requires long-term respiratory support. The only way to detect the syndrome is polysomnography, followed by molecular genetic analysis of the patient’s genome. For primary diagnosis at the earliest possible stage, daily monitoring of the EEG with subsequent visual assessment of the data obtained and the spectral power analysis is justified. Changes in the EEG during the slow phase of sleep in the form of an alternating curve with the duration of the inter-breath intervals ranging from 13 to 30 seconds (in individual episodes up to 80 seconds) are an indirect sign of central hypoventilation syndrome and indicate the need for in-depth genetic investigation by studying the expansion of trinucleotide repeats.

Keywords:congenital central hypoventilation syndrome; newborn; electroencephalogram; bioelectric activity of the brain

Funding. The study had no sponsor support.

Conflict of interest. The authors declare no conflict of interest.

For citation: Alexandrovich Yu.S., Pshenisnov K.V., Kipyatkov N.Yu., Pavlovskaya E.Yu., Belyaeva N.A. Features of brain bioelectric activity in congenital central hypoventilation syndrome (clinical case). Neonatologiya: novosti, mneniya, obuchenie [Neonatology: News, Opinions, Training]. 2024; 12 (1): 58–64. DOI: https://doi.org/10.33029/2308-2402-2024-12-1-58-64 (in Russian)

References

1. Trang H., Samuels M., Ceccherini I., et al. Guidelines for diagnosis and management of congenital central hypoventilation syndrome. Orphanet J Rare Dis. 2020; 15 (1): 252. DOI: https://doi.org/10.1186/s13023-020-01460-2

2. Weese-Mayer D.E., Rand C.M., Khaytin I., et al. Congenital central hypoventilation syndrome. In: M.P. Adam, J. Feldman, G.M. Mirzaa, et al. (eds). GeneReviews®. Seattle, WA: University of Washington, Seattle, January 28, 2004. URL: https://www.ncbi.nlm.nih.gov/books/NBK1427/ (date of access October 26, 2023).

3. Aleksandrovich Yu.S., Pshenisnov K.V. Respiratory support for critical conditions in pediatrics and neonatology. Moscow: GEOTAR-Media, 2020: 272 p. (in Russian)

4. Adylov T.S., Shestak E.V. Congenital central hypoventilation syndrome (Ondine’s curse): clinical case. Voprosy sovremennoy pediatrii [Problems of Modern Pediatrics]. 2023; 22 (4): 311–8. DOI: https://doi.org/10.15690/vsp.v22i4.2592 (in Russian)

5. Severinghaus J.W., Mitchell R.A. Undine’s curse —​failure of respiratory center automaticity while awake. Clin Res. 1962; 10: 122.

6. Haddad G.G., Mazza N.M., Defendini R., Blanc W.A., Driscoll J.M., Epstein M.A., et al. Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate. Medicine (Baltimore). 1978; 57 (6): 517–26.

7. Mellins R.B., Balfour H.H. Jr, Turino G.M., Winters R.W. Failure of automatic control of ventilation (Ondine’s curse). Report of an infant born with this syndrome and review of the literature. Medicine (Baltimore). 1970; 49 (6): 487–504.

8. Mei M., Yang L., Lu Y., et al. Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature. Transl Pediatr. 2021; 10 (4): 733–45. DOI: https://doi.org/10.21037/tp-20-303

9. Castro C., Correia C., Martins T., Portela A. Congenital central hypoventilation syndrome: a life-threatening cause of neonatal apnoea. BMJ Case Rep. 2021; 14 (9): e244679. DOI: https://doi.org/10.1136/bcr-2021-244679

10. Ostreykov I.F., Sokolov Yu. Yu., Mizernicky Yu.L. Congenital central hypoventilation. Zemskoy vrach [Country Doctor]. 2012; 2 (13): 39–41. URL: https://cyberleninka.ru/article/n/vrozhdennyy-tsentralnyy-gipoventilyatsionnyy-sindrom-klinicheskiy-sluchay-sindroma-undiny/viewer (in Russian)

11. Tovichien P., Rattananont K., Kulthamrongsri N., Chanvanichtrakool M., Yangthara B. Rare cause of neonatal apnea from congenital central hypoventilation syndrome. BMC Pediatr. 2022; 22 (1): 105. DOI: https://doi.org/10.1186/s12887-022-03167-8

12. Binmanee A., Alfadhel A., Alzamil N., Al Banyan S., Alammar M. Congenital central hypoventilation syndrome presenting with seizures. Cureus. 2020; 12 (1): e6680. DOI: https://doi.org/10.7759/cureus.6680

13. Kipyatkov N. Yu., Belyaeva N.A. Features of bioelectrical activity of the brain during abstinence syndrome in newborns caused by maternal drug addiction. Children’s Medicine of the North-West. 2021; 9 (1): 182–3. (in Russian)

14. Kipyatkov N.Yu., Dutov V.B. Prospects of use of integrative indicators of computer processing of EEG in the structure of the express-analysis of neurocognitive status. Pediatr [Pediatrician]. 2014; 5 (1): 44–8. (in Russian)

15. Tsuchida T.N., Wusthoff C.J., Shellhaas R.A., et al. American clinical neurophysiology society standardized EEG terminology and categorization for the description of continuous EEG monitoring in neonates: report of the American Clinical Neurophysiology Society Critical Care Monitoring Committee. J Clin Neurophysiol. 2013; 30 (2): 161–73. DOI: https://doi.org/10.1097/WNP.0b013e3182872b24

16. Mizrahi E.M., Hrachovy R.A. Atlas of Neonatal Electroencephalography. 4th ed. Springer, 2015: 320 p.

17. Hayakawa M., Okumura A., Hayakawa F., et al. Background electroencephalographic (EEG) activities of very preterm infants born at less than 27 weeks gestation: a study on the degree of continuity. Arch Dis Child Fetal Neonatal Ed. 2001; 84 (3): F163–7. DOI: https://doi.org/10.1136/fn.84.3.f163

All articles in our journal are distributed under the Creative Commons Attribution 4.0 International License (CC BY 4.0 license)

CHIEF EDITOR
CHIEF EDITOR
Degtyarev Dmitriy Nikolaevich
Doctor of Medical Sciences, Professor, Deputy Director for Scientific Research of the V.I. Kulakov Obstetrics, Gynecology and Perinatology National Medical Research Center of Ministry of Healthсаre of the Russian Federation, Head of the Chair of Neonatology at the Clinical Institute of Children's Health named after N.F. Filatov, I.M. Sechenov First Moscow State Medical University, Chairman of the Ethics Committee of the Russian Society of Neonatologists, Moscow, Russian Federation

ORCID iD 0000-0001-8975-2425

Journals of «GEOTAR-Media»