ROHHAD syndrome (literature review and case report)
L.A. BALYKOVA1, N.V. IVYANSKAYA2, E.S. SAMOSHKINA1, S.A. IVYANSKY1, Yu.A. PETRUSHKINA2, T.A. FADEEVA1, A.R. VALIULLOVA1, M.V. BAKSHAEVA1
¹National Research Mordovia State University named after N.P. Ogarev, 68 Bolshevistskaya Str., Saransk, Russian Federation, 430005
2Children’s Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan, 15 Rozy Lyuksemburg Str., Saransk, Russian Federation, 430032
Balykova L.A. – D. Sc. (medicine), Professor, Corresponding Member of the Russian Academy of Sciences, Director of the Medical Institute, Head of the Department of Pediatrics, e-mail: larisabalykova@yandex.ru, ORCID ID 0000-0002-2290-0013.
Ivyanskaya N.V. – Deputy Chief Physician, e-mail: astin@list.ru, ORCID ID 0000-0003-3197-4249.
Samoshkina E.S. – Ph.D. (medicine), Associate Professor of the Department of Pediatrics, e-mail: esamoshkina@yandex.ru, ORCID ID 0000-0002-8192-7902.
Ivyansky S.A. – Ph.D. (medicine), Associate Professor of the Department of Pediatrics, e-mail: stivdoctor@yandex.ru, ORCID ID 0000-0003-0087-4421
Petrushkina Yu.A. – Acting Head of the Department of Cardiorheumatology, e-mail: petrushkina2212@mail.ru, ORCID ID 0000-0002-1147-6835
Fadeeva T.A. – Clinical Intern of the Department of Pediatrics, e-mail: tatianafadeeva2015@yandex.ru, ORCID ID 0000-0002-6754-4235
Valiullova A.R. – the 6th year student of the Medical Institute of Pediatrics, e-mail: Valiullova555@gmail.com, ORCID 0000-0001-9238-6403
Bakshaeva M.V. – the 6th year student of the Medical Institute of Pediatrics, tel. (834) 235-30-02, e-mail: chairped@yandex.ru, ORCID ID 0000-0003-2584-232X.
Respiratory distress in a dream is a potentially lethal condition characterized by multiple episodes of sleep apnea. Its study seems to be relevant for pediatrics due to the difficulties of diagnosis and the lack of effective treatment methods available to date. This article describes the clinical case of the rare ROHHAD syndrome, which is included in the group of central sleep apnea. The disease is characterized by rapid obesity in young children, combined with hypoventilation, hypothalamic dysfunction, electrolyte disturbances and pathology of the autonomic nervous system.
The aim of the work is to review the literature data on breathing disorders in sleep and to present own clinical observation of the rare ROHHAD syndrome.
Material and methods: data of the case history of a 6-year-old child with sleep apnea, who was examined and treated in the hospital of Saransk, as well as the results of the MedLine literature search for the period from 1960–2018, are presented.
Results. More than 100 sources of literature are analyzed. Own observation demonstrates a typical clinical presentation of ROHHAD syndrome. The diagnosis was established after 3.5 years from the manifestation of the first symptom — a sudden and rapidly progressive obesity, after the appearance of ventilation disorders, which is consistent with the literature. The diagnosis is confirmed by the results of polysomnography. The child is assigned ventilation support in a dream.
Conclusion. The rarity of the disease leads to a lack of awareness of pediatricians in his attitude. The timely diagnosis of ROHHAD syndrome, which is currently based solely on the clinical picture and polysomnography, can increase the duration and improve the quality of patients’ life.
Key words: sleep apnea, ROHHAD syndrome, obesity, hypothalamic dysregulation.
(For citation: Balykova L.A., Ivyanskaya N.V., Samoshkina E.S., Ivyansky S.A., Petrushkina Yu.A., Fadeeva T.A., Valiullova A.R., Bakshaeva M.V. ROHHAD syndrome (literature review and case report). Practical Medicine. 2018)
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