Clinical case of ROHHAD syndrome in pediatric practice

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Resumo

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.

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Sobre autores

Anastasia Ishbuldina

Kazan State Medical University, Department of Hospital Pediatrics

Email: ishbuldinakgmu@mail.ru
ORCID ID: 0000-0002-7533-3489

Cand. Sci. (Med.), Assistant, Department of Hospital Pediatrics

Rússia, Kazan

Khakim Vakhitov

Kazan State Medical University, Department of Hospital Pediatrics

Email: vhakim@mail.ru
ORCID ID: 0000-0001-9339-2354

Dr. Sci. (Med.), Professor, Department of Hospital Pediatrics

Rússia, Kazan

Dina Sabirova

Kazan State Medical University, Department of Hospital Pediatrics

Email: dinasabirova@mail.ru
ORCID ID: 0000-0003-0501-405X

Cand. Sci. (Med.), Assistant, Department of Hospital Pediatrics

Rússia, Kazan

Olga Karpova

Children’s Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan

Email: karpova80@mail.ru
ORCID ID: 0000-0002-7557-7467

Head of Pulmonology Department, Pediatrician

Rússia, Kazan

Gulnara Shaimardanova

Children’s Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan

Autor responsável pela correspondência
Email: shaymardanova_gr@mail.ru

Pediatrician of Pulmonology Department

Rússia, Kazan

Bibliografia

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2. Figure 1. Dynamics of body weight indicators (blue bars) and normative values (red Iine) during observation

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3. Figure 2. Subcutaneous fat thickness and manifestations diffuse muscle hypotonia

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