Global InformationROHHAD information
| ROHHAD | |
|---|---|
| Other names | ROHHADNET |
 | |
| A photograph of a child who has been diagnosed with ROHHAD | |
| Symptoms | rapid onset obesity, hypothalamic dysfunction, hypoventilation, autonomic dysfunction, neuroendocrine tumors, behavior problems |
| Usual onset | 1.5-11 years of age |
| Causes | unknown |
| Prognosis | Life Limiting |
| Frequency | 158 cases reported worldwide |
Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare condition whose etiology is currently unknown.[1] ROHHAD mainly affects the endocrine system and autonomic nervous system, but patients can exhibit a variety of signs. Patients present with both alveolar hypoventilation along with hypothalamic dysfunction, which distinguishes ROHHAD from congenital central hypoventilation syndrome (CCHS).[2] ROHHAD is a rare disease, with only 100 reported cases worldwide thus far.[3]
The first sign of ROHHAD is a rapid weight gain between 1.5 and 11 years of age.[4] Typically, hypoventilation, or abnormally slow breathing, presents after the rapid onset obesity.[4] Symptoms of hypothalamic dysfunction and autonomic dysfunction present in a variety of ways, but in order for a diagnosis of ROHHAD they must be present in some form.[3] Approximately 40% of patients will develop neuroendocrine tumors.[1] There is also a possibility of behavioral disorders, but some children with ROHHAD have normal cognitive development and intelligence.[3]
Treatment plans for ROHHAD vary depending on each patient's symptoms. There is no cure, so treatment is geared toward managing the symptoms that each patient manifests.[5] ROHHAD is fatal in 50-60% of cases when undiagnosed and untreated, due to cardiopulmonary arrest secondary to untreated hypoventilation.[4] The earlier the disease is diagnosed and treatment starts, the better a child's prognosis is.[5]
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