ROHHAD Syndrome: Modern Understanding of Rare Childhood Disease

ROHHAD syndrome (Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction, and Autonomic Dysregulation) is a life-threatening, multisystem disorder of childhood with high mortality rate, estimated at 50–60%. The clinical picture is characterized by triad of symptoms: rapid onset of obesity between 1.5 and 7 years of age, central alveolar hypoventilation, and complex hypothalamic dysfunction including central hypothyroidism, hyperprolactinemia, fluid and electrolyte imbalances, growth hormone deficiency, adrenal insufficiency, and impaired pubertal development. Autonomic dysregulation often accompanies this triad. Development of neural crest tumors (mainly ganglioneuromas and ganglioneuroblastomas) can be significant co-morbidity as they are detected in approximately half of patients. ROHHAD syndrome epidemiological characteristics and prevalence are still unclear. Diagnosis relies only on clinical data as there are no specific laboratory or genetic markers, thus, it significantly complicates disease recognition and leads to late or missed diagnosis. Early diagnosis is crucial due to the high risk of life-threatening complications and death without timely management. ROHHAD syndrome etiopathogenesis remains unclear; the leading hypothesis is autoimmune origin as immunosuppressive therapy can achieve partial response. Management strategies should be multidisciplinary and supportive in the absence of any etiotropic treatment. Thus, ROHHAD remains a disease with numerous unresolved questions regarding its pathogenesis, diagnosis, and management, highlighting the need for further research. This review examines key aspects of ROHHAD syndrome including its proposed etiology, clinical signs, diagnostic approaches, treatment strategies, and prognosis. Publications were selected and analyzed in the PubMed, Google Scholar, and eLIBRARY databases.

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