RSH Syndromes, also known as Rohhad-NET Syndromes, refers to a group of rare neuroendocrine disorders that primarily affect children. The acronym RSH stands for Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation, which are among the prominent features of these syndromes.
The condition is characterized by a sudden and severe weight gain in the first few years of life, often leading to obesity. The primary cause of this weight gain is believed to be related to a malfunction in the hypothalamus, a part of the brain that regulates hunger, satiety, and body temperature. Additionally, RSH Syndromes can result in hypoventilation, where the affected individuals may experience irregular or shallow breathing, especially during sleep. Autonomic dysregulation is another key characteristic, causing disruptions in the normal functioning of the autonomic nervous system, which controls involuntary bodily functions such as heart rate, blood pressure, and digestion.
Children affected by RSH Syndromes may also exhibit other symptoms such as impaired temperature control, developmental delays, and alterations in endocrine functions. Diagnosis of these syndromes requires a comprehensive evaluation of the clinical manifestations and ruling out other possible conditions. Treatment mainly involves managing the symptoms and may include interventions like ventilatory support during sleep, specialized diets, and addressing endocrine abnormalities.
Due to its rarity and complex nature, RSH Syndromes require a multidisciplinary approach for appropriate care, involving healthcare professionals from various specialties such as endocrinology, pulmonology, neurology, and genetics.
