ISSN 2409-9988

CLINICAL CASE OF SUCCESSFUL REHABILITATION OF A CHILD WITH UNDINE SYNDROME (CCHS-CONGENITAL CENTRAL HYPOVENTILATION SYNDROME, ONDINE SYNDROME, OMIM 209880)

Yuliya Grechanina, Elena Bugaeva, Svitlana Biletska

Abstract


Grechanina Yu., Bugaeva E., Biletska S.

The article describes the case of the combination of an orphan monogenic disease (Undine syndrome) with a violation of the methylation cycle (epigenetic status) and mitochondrial dysfunction. Correction of concomitant metabolic disorders has allowed to improve the quality of life of the child.

Key words: Undine syndrome, synthropy, methylation, mitochondrial dysfunction

 

 КЛІНІЧНИЙ СПОСІБ УСПІШНОЇ РЕАБІЛІТАЦІЇ ДИТИНИ З СИНДРОМОМ УНДІНИ (ВРОДЖЕНИЙ ЦЕНТРАЛЬНИЙ ГІПОВЕНТИЛЯЦІЙНИЙ СИНДРОМ, СИНДРОМ УНДІНИ, ОМІМ 209880)

Гречаніна Ю., Бугаєва О., Білецька С.

У статті описаний випадок поєднання орфанного моногенного захворювання (синдром Ундини) з порушенням циклу метилювання (епігенетичного статусу) і мітохондріальної дисфункції. Корекція супутніх обмінних порушень дозволила поліпшити якість життя дитини.

Ключові слова: синдром Ундини, сінтропія, метилювання, мітохондріальна дисфункція

 

КЛИНИЧЕСКИЙ СПОСОБ УСПЕШНОЙ РЕАБИЛИТАЦИИ РЕБЕНКА С СИНДРОМОМ УндинЫ (ВРОЖДЕННЫЙ ЦЕНТРАЛЬНЫЙ ГИПОВЕНТИЛЯЦИОННЫЙ СИНДРОМ, СИНДРОМ УНДИНЫ, ОМИМ 209880)

Гречанина Ю., Бугаева О., Билецкая С.

        В статье описан случай сочетания орфанного моногенного заболевания (синдром Ундины) с нарушением цикла метилирования (эпигенетического статуса) и митохондриальной дисфункции. Коррекция сопутствующих обменных нарушений позволила улучшить качество жизни ребёнка.

Ключевые слова: синдром Ундины, синтропия, метилирование, митохондриальная дисфункция


Full Text:

PDF

References


Congenital central hypoventilation syndrome. Genetics Home Reference. U.S. National Library of Medicine. Retrieved 5 June 2015.

www.orpha.net

Jazeela Fayyaz, Zab Mosenifar, M, ed. Hypoventilation Syndromes. – Medscape.

Ostreikov I.F., Sokolov Yu.Yu., Mizernitskiy Yu.L, Kozlova S.I., Shein V.I., Zaplatnikov A.L., Nikitin V.V. (2012) Vrozhdenniy centralniy hipoventilyacionniy sindrom (klinicheskiy sluchay sindroma Undini) (Congenital central Hypoventilation Syndrome (clinical case of Undine Syndrome)). Zemskiy vrach, no 2 (13)

Congenital Central Hypoventilation Syndrome. Retrieved from eMedicine: http://emedicine.medscape.com/article/1002927-overview

Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series (2013). Journal of Medical Case Reports, 2, 128-6

Lovell BL, Bullock RE, Anderson KN (2010). An unusual presentation of congenital central hypoventilation syndrome (Ondine's Curse). Emerg Med J., 27 (3), 237–8.

Windisch W, Hennings E, Storre J, Matthys H, Sorichter S (2004). Long-term survival of a patient with congenital central hypoventilation syndrome despite the lack of continuous ventilatory support. Respiration, 71 (2), 195–8.

CCHS Family Network: http://cchsnetwork.org/

Primary alveolar hypoventilation: Ondine's curse. (2010). A.D.A.M. Medical Encyclopedia. U.S. National Library of Medicine.

Weese-Mayer DE, Rand CM, Berry-Kravis EM, Jennings LJ, Loghmanee DA, Patwari PP, Ceccherini I (2009). Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. Pediatr. Pulmonol., 44, 521–35.

Long, K. J.; Allen, N. (1984). Abnormal brain-stem auditory evoked potentials following Ondine's curse. Arch. Neurol., 41 (10), 1109–10.

Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, et al. (2003). Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat. Genet., 33, 1–3.

Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C (2005). The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. Chest., 127 (1), 72–9.

Gaultier C; Amiel J.; Dauger S; et al. (2004). Genetics and early disturbances of breathing control. Pediatr. Res., 55 (5), 729–33.

Gaultier C, Trang H, Dauger S, Gallego J (2005). Pediatric disorders with autonomic dysfunction: what role for PHOX2B? Pediatr. Res., 58 (1), 1–6.

Gene secret of mythical cure: http://news.bbc.co.uk/2/hi/health/2996791.stm

Kincaid PK, Dietrich RB, Pais MJ (1994). Pediatric case of the day. Neurocristopathy (Ondine-Hirschsprung syndrome). Radiographics, 14 (5), 1139–43.

Todd ES, Weinberg SM, Berry-Kravis EM, et al. (2006). Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology. Pediatr. Res., 59 (1), 39–45.

Krivcova L.A., Safonova T.I., Dorofeeva L.K. et al (2010). Klinicheskiy sluchay vrozhdennogo centralnogo hipoventilyacionnogo sindroma (Clinical case of Congenital Central Hypoventilation Syndrome). Voprosi diagnostiki v pediatrii, no 2 (2), pp 40–43.

Poceta, J. S.; Strandjord, T. P.; Badura, R. J.; Milstein, J. M. (1987). Undine curse and neurocristopathy. Pediatr. Neurol., 3 (6), 370–2.

American thoracic society. Idiopathic congenital central hypoventilation syndrome. Am J Respir Crit Care Med, 160, 368-73

Grechanina Ye. Ya et al (2010). Zakonomernaya svyaz mezhdu razvitiem nekotorich epigeneticheskich bolezney i narusheniem metilirovaniya DNK vsledstbie deficit fermentov folatnogo cicla (The natural connection between the development of some epigenetic diseases and the violation of DNA methylation due to a deficiency of folate cycle enzymes). Repository KhNMU, http://repo.knmu.edu.ua/handle/123456789/628

Poluektov M.G., Blohin B.M., Tarasenko E.S. (2012). Vrozhdenniy centralniy hipoventilyacionniy sindrom (klinicheskiy sluchay sindroma Undini) (Congenital central Hypoventilation Syndrome (clinical case of Undine Syndrome)). Zemskiy vrach, no 2 (12).

Guilleminault C., McQuitty J., Ariagno R.L. et al. (1982). Congenital central alveolar hypoventilation syndrome in six infants. Pediatrics., 70, 684–694

De Pontual L, Nepote V, Attie-Bitach T, Al Halabiah H, Trang H, Elghoussi V, et al. (2003). Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine’s curse). Hum. Mol. Genet., 12, 3173–80.

Haddad Y.Y., Mazza N.M., Defendini R. et all. (1978). Congenital failure of automatik control of ventilation, gastrointestinal mobiliti and heart rate. Medicine (Baltimore), 57, 517–526.

Marazita ML, Maher BS, Cooper ME, Silvestri JM, Huffman AD, Smok-Pearsall SM, et al. (2001). Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome. Am. J. Med. Genet., 100(3), 229-36.

Nannapaneni R, Behari S, Todd NV, Mendelow AD (2005). Retracing "Undine's curse". Neurosurgery, 57 (2), 354–63.

Patwari PP, Lareau S, Sockrider M, Weese-Mayer DE. (2010). Congenital central hypoventilation syndrome (CCHS). American Thoracic Society Patient Information Series. Am. J. Respir. Crit. Care Med., 182, 4–5.

Sudden Death Due to Central Alveolar Hypoventilation Syndrome (Ondines Curse) in a 39-Year-Old Woman With Heterotopia of the Inferior Olive (2007). Article in American Journal of Forensic Medicine & Pathology, 28(2), 141-4

Takeda, S.; Fujii, Y.; Kawahara, H.; Nakahara, K.; Matsuda H (1996). Central alveolar hypoventilation syndrome (Undine's curse) with gastroesophageal reflux. Chest., 110 (3), 850–852.

Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H. (2010). Congenital Central Hypoventilation Syndrome Subcommittee.; аn official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am. J. Respir. Crit. Care Med., 181, 626–44.

Weese-Mayer D.E., Shannon D.C., Keens T.G., Silvestri J.M. (1999). American Thoracic Society Statement. Idiopathic congenital central hypoventilation syndrome. Diagnosis and management. Am. J. Respir. Crit. Care Med., 160, 368–373.


Refbacks