The variable presentation of ROHHAD includes the following main symptoms:
- Large weight gain in a short amount of time (15 to 20 lbs in a 6- to 12-month period with onset between 1.5 and 10 years of age.)
- Hyperphagia and obesity by age of 10years - (median age 3 years)
- Respiratory Manifestations
- Alveolar Hypoventilation (median onset age 6.2 years)
- Cardiorespiratory arrest
- Reduced Carbon Dioxide Ventilatory Response
- Obstructive sleep apnea
- Thermal or other hypothalamic dysregulations, with autonomic dysregulation by median age 3.6 years
- Failed Growth Hormone Stimulation
- Adipsic hypernatremia (inability to feel thirst to keep normal hydration)
- Hypernatremia - electrolyte disturbance that is defined by an elevated sodium level in the blood
- Hyperprolactinemia - abnormally-high levels of prolactin in the blood
- Hyperphagia - abnormal appetite and excessive ingestion of food, even to the point of gastric pain and vomiting
- Polydipsia - Excessive thirst
- Polyuria - is a condition characterized by the passage of large volumes of urine (at least 2.5 L - over 24 hours in adults)
- Diabetes insipidus
- Ophthalmologic Manifestations - most exhibit Strabismus
- Hypertension - high blood pressure
- Somniloquy - sleep talking
- Somnambulism - sleep walking
- Voice Modulation - inability to control the volume of voice
- Enuresis - bed-wetting during sleep
- Thermal Dysregulation - episodes of hyperthermia or hypothermia
- Gastrointestinal dysmotility
- Altered Perception of Pain
- Altered Sweating
- Cold Hands and Feet
- Flat affect - unable to show emotions
- Neurobehavioral disorders,
- Tumors of neural crest origin
Graphic from Children's Memorial web site
Where to find more info about ROHHAD on the Internet:
Web sites:
- www.rareshare.org
- ROHHAD on Facebook
- Genetic and Rare Diseases Information Center (GARD)
- ROHHAD.net
- Children's Memorial
- Johns Hopkins Mysteries of ROHHAD
