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ROHHAD syndrome: case report of an ultra-rare disease
https://doi.org/10.21508/1027-4065-2025-70-4-84-91
Abstract
ROHHAD is a poorly studied syndrome characterized by multisystem organ involvement and a high mortality rate. According to the literature, approximately 200 cases of this syndrome are known. ROHHAD syndrome has a presumably autoimmune mechanism of disease development, manifested by rapidly developing morbid obesity, hypothalamic dysfunction, apnea, and impaired autonomic regulation. The wide clinical variability of the syndrome complicates timely diagnosis. This article presents a clinical case of a 6-year-old girl with a rare ROHHAD syndrome and to demonstrate a set of the main clinical symptoms and diagnostic signs of the syndrome, as well as possible therapeutic approaches in the management of this life-threatening disease.
About the Authors
M. P. Safonova
Veltischev Research and Clinical Institute for pediatrics and pediatric surgery at the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
125412, Moscow
O. A. Serebryakova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
117997, Moscow
E. A. Rubtsova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
117997, Moscow
N. M. Zaikova
Veltischev Research and Clinical Institute for pediatrics and pediatric surgery at the Pirogov Russian National Research Medical University; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
125412, Moscow
117997, Moscow
A. N. Podgorny
Veltischev Research and Clinical Institute for pediatrics and pediatric surgery at the Pirogov Russian National Research Medical University; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
125412, Moscow
117997, Moscow
E. A. Potrokhova
Veltischev Research and Clinical Institute for pediatrics and pediatric surgery at the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
125412, Moscow
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Review
For citations:
Safonova M.P., Serebryakova O.A., Rubtsova E.A., Zaikova N.M., Podgorny A.N., Potrokhova E.A. ROHHAD syndrome: case report of an ultra-rare disease. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2025;70(4):84–91. (In Russ.) https://doi.org/10.21508/1027-4065-2025-70-4-84-91
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