ROHHAD Syndrome

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is an extremely rare and life-threatening disorder marked by rapid and dramatic weight gain, along with other symptoms. It typically affects otherwise healthy children between ages 1 and 9, with most children developing symptoms before age 4. ROHHAD is a relatively new condition and there is still much unknown about it.

The main symptom of ROHHAD is significant weight gain in a short period of time — often 20 to 30 pounds in three to 12 months. Other symptoms of ROHHAD syndrome tend to appear over time:

Signs of hypothalamic dysfunction

• Slowed growth
• Early or delayed puberty
• Hypothyroidism
• Diabetes insipidus

Signs of hypoventilation

• Inability to regulate breathing during sleep and exertion
• Respiratory failure

Signs of autonomic dysregulation

• Dysregulation of body temperature (low or high temperature)
• Reduced pain sensitivity
• Slow heart rate (bradycardia)
• Abnormal sweating
• Abnormal blood pressure regulation
• Decreased or increased gastric motility leading to constipation and stomach problems

Children with ROHHAD syndrome may also develop complications of the condition, such as:

• Mood and behavioral changes
• Cognitive challenges
• Developmental concerns
• Abnormal eye movement or pupil size
• Seizures
• Cardiorespiratory arrest, which may be fatal

About half of children with ROHHAD syndrome have tumors called neuroblastic tumors. These tend to be relatively benign and treatable.

The exact cause of ROHHAD syndrome is still unclear, but experts believe that it may be a type of autoimmune condition called a paraneoplastic disease. The theory is that the immune system attacks a patient’s own organs, particularly the brain and adrenal glands.

Because ROHHAD syndrome is so rare, it can be challenging to diagnose. Your child’s doctor will perform a physical exam and ask about their medical history and symptoms.

To be diagnosed with ROHHAD syndrome, a child must have symptoms such as rapid-onset obesity, hypoventilation (during sleep and while awake), and signs of hypothalamic dysfunction, such as hypothyroidism or early puberty. The doctor may also recommend testing to rule out genetic syndromes, including a condition called congenital central hypoventilation syndrome, which has some similar symptoms.

The doctor may also recommend tests such as:

• Blood tests
• Sleep study
• MRI
• Spinal tap
• Heart monitor
• Specialized antibody tests

Boston Children’s researchers have identified a possible marker of the disease in the blood and spinal fluid of patients with ROHHAD syndrome, which may also be helpful in determining the diagnosis.

Treatment for ROHHAD syndrome requires a team of specialists who can address your child’s specific symptoms. Depending on your child’s individual case, their treatment may include:

• Diet and exercise
• Medication (thyroid hormone replacement, anti-seizure medication, heart medication, diabetes medication, medication to calm the immune system, etc.)
• Machines that help your child breathe, such as a CPAP, BiPAP, or tracheostomy and ventilator
• Surgery to remove related tumors
• Cardiac pacemaker

At Boston Children’s, we care for children with ROHHAD syndrome in our Neuroimmunology Center. Our team of pediatric neuroimmunologists takes a multidisciplinary approach, working with other specialists throughout Boston Children’s who have expertise in caring for children with ROHHAD syndrome, including neurologists, sleep pulmonologists, endocrinologists, cardiologists, psychologists, physical therapists, social workers, nutritionists, education specialists, and others. Together, we will create a treatment plan that puts your family in the center.