Clinical case of ROHHAD syndrome in pediatric practice

Ishbuldina A.V., Vakhitov K.M., Sabirova D.R., Karpova O.A., Shaimardanova G.R.

1) Kazan State Medical University, Department of Hospital Pediatrics, Kazan, Russia; 2) Children’s Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan, Kazan, Russia

The article is devoted to the demonstration of a clinical case of ROHHAD syndrome in a 5-year-old child.
ROHHAD is an abbreviation that stands for and translates as rapidly progressive obesity with hypothalamic dysregulation, hypoventilation and autonomic dysfunction. The first clinical case of ROHHAD syndrome (formerly known as Late-Onset Central Hypoventilation Syndrome (LO-CHS) with Hypothalamic Dysfunction), a central hypoventilation syndrome with late onset and hypothalamic dysfunction, was described in the American Journal of Pediatrics in 1965.
According to the ROHHAD association, 100 cases of the disease have been reported worldwide. The etiology and pathogenesis of this disease are still not fully understood, to date, three main etiopathogenetic hypotheses have been put forward: genetic, epigenetic and autoimmune. Treatment of ROHHAD syndrome is currently only symptomatic. Patients receive hormone replacement therapy, water-electrolyte balance correction, and respiratory support.

Keywords

About the Authors

Khakim M. Vakhitov, Dr. Sci. (Med.), Professor, Department of Hospital Pediatrics, Kazan State Medical University, Kazan, Russia; vhakim@mail.ru, ORCID: https://orcid.org/0000-0001-9339-2354 (corresponding author)
Anastasia V. Ishbuldina, Cand. Sci. (Med.), Assistant, Department of Hospital Pediatrics, Kazan State Medical University, Kazan, Russia; ishbuldinakgmu@mail.ru, ORCID: https://orcid.org/0000-0002-7533-3489
Dina R. Sabirova, Cand. Sci. (Med.), Assistant, Department of Hospital Pediatrics, Kazan State Medical University, Kazan, Russia; dinasabirova@mail.ru,
ORCID: https://orcid.org/0000-0003-0501-405Х
Olga A. Karpova, Head of Pulmonology Department, Pediatrician, Children’s Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan, Kazan, Russia; karpova80@mail.ru, ORCID: https://orcid.org/0000-0002-7557-7467
Gulnara. R. Shaimardanova, Pediatrician of Pulmonology Department, Children’s Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan, Kazan, Russia; shaymardanova_gr@mail.ru, ORCID: https://orcid.org/0000-0003-2519-609Х

Similar Articles