Overview

ROHHAD Syndrome (Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation) is a very rare and serious pediatric disorder characterized by rapid weight gain and a range of neurological and respiratory problems. Early diagnosis and comprehensive management are crucial to improve outcomes. In Korea, specialized pediatric neurology and pulmonology centers offer multidisciplinary care for ROHHAD syndrome patients.

What is ROHHAD Syndrome?

ROHHAD is a complex syndrome involving dysfunction of the hypothalamus, which controls many critical bodily functions, combined with hypoventilation (inadequate breathing) and autonomic nervous system abnormalities. It typically presents in early childhood with sudden rapid obesity followed by respiratory and hormonal problems.

Symptoms

• Rapid-onset obesity in early childhood
• Hypoventilation causing breathing difficulties, especially during sleep
• Autonomic dysfunction including abnormal temperature regulation, heart rate variability, and blood pressure fluctuations
• Hormonal imbalances such as hypothyroidism, adrenal insufficiency, or diabetes insipidus
• Behavioral and developmental delays
• Other symptoms like excessive thirst, excessive urination, and digestive issues

Causes

• The exact cause is unknown; suspected to involve hypothalamic and autonomic nervous system dysfunction
• No clear genetic mutation identified yet, though research is ongoing

Risk Factors

• Early childhood age group (usually diagnosed between ages 2-7)
• No known familial or inherited pattern

Complications

• Severe respiratory failure due to hypoventilation
• Cardiovascular instability from autonomic dysfunction
• Endocrine problems affecting growth and metabolism
• Neurodevelopmental delays
• Increased risk of sudden death without proper monitoring and treatment

Prevention

• No known prevention due to unclear cause
• Early recognition and intervention to manage symptoms and prevent complications

Treatment Options in Korea

Korean pediatric and neurology specialists provide multidisciplinary care for ROHHAD syndrome:

• Respiratory Support: Mechanical ventilation or non-invasive ventilation during sleep to manage hypoventilation.
• Endocrine Management: Hormone replacement therapies tailored to individual deficiencies.
• Autonomic Dysfunction Management: Medications and monitoring to stabilize heart rate, blood pressure, and temperature.
• Nutritional and Weight Management: Dietary counseling to address rapid obesity and metabolic needs.
• Neurodevelopmental Support: Therapies for behavioral and cognitive issues.
• Regular Monitoring: Intensive follow-up with multidisciplinary teams to manage evolving symptoms and complications.