ROHHAD Syndrome ?
These other hypothalamic/endocrine abnormalities may include inability to maintain normal water balance in the body (leading to abnormally high or low sodium levels), high prolactin levels, low thyroid hormone, early or late puberty, and low cortisol among other abnormalities.
- Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation.
- rare disorder of respiratory control and autonomic nervous system (ANS) regulation, with endocrine system abnormalities.
Congenital central hypoventilation syndrome (CCHS)
- Respiratory control is the automatic function of breathing in response to varied activities of daily living (ex. exercise, sleep, eating).
- This rapid-onset obesity is considered a sign of hypothalamic dysfunction (abnormality of the endocrine system).
- Other hypothalamic abnormalities may not be detected at the time of the rapid weight gain, but will be identified any time from months to years following the rapid-onset obesity.
After the rapid weight gain,
also after the rapid weight gain, the symptoms of ANSD become more apparent
all children with ROHHAD develop ALVEOLAR HYPOVENTILATION with very shallow breathing during sleep. in more severely affected patients with ROHHAD the hypoventilation is apparent awake and asleep.
begin to show breathing abnormalities. Some children will have obstructive sleep apnea; they may have snoring and they may have pauses in breathing.
- altered pupil response "Lazy eye"
- intestinal abnormalities (constipation or diarrhea)
- very high or very low body temperature
ROHHAD SYNDROME
- within the context of the ANS. The ANS is the portion of the nervous system that controls or regulates many involuntary body functions including heart rate, blood pressure, temperature regulation, bowel and bladder control, breathing, and more…
- The endocrine system is regulated by the hypothalamus, and through hormones it controls growth, energy and water balance, sexual maturation and fertility as well as response to stress.
How to recognize !!!
Children with ROHHAD are seemingly normal before the rapid-onset weight gain, Between 1.5 and 7 years of age, these children begin to manifest abnormalities that will evolve into the features of ROHHAD.
The criteria for diagnosis of ROHHAD include the following
- Rapid onset obesity and alveolar hypoventilation during sleep after the age 1.5 years old.
- evidence of hypothalamic dysfunction.
- absence of a CCHS-related PHOX2B mutation.