Monday, March 2, 2009

Symptoms Associated with ROHHAD

  1. Rapid-onset obesity - Gaining large amounts of weight in a short amount of time
  2. Failed growth hormone stimulation - ROHHAD children sometimes stop growing for a short amount of time or completely stop all together
  3. Polydipsia - Excessive thirst
  4. Hypernatremia - electrolyte disturbance that is defined by an elevated sodium level in the blood
  5. Hyperprolactinemia - abnormally-high levels of prolactin in the blood
  6. Hyperphagia - abnormal appetite and excessive ingestion of food, even to the point of gastric pain and vomiting
  7. Diabetes insipidus - excessive thirst and excretion of large amounts of severely diluted urine
  8. Hypothyroidism - condition in which the body lacks sufficient thyroid hormone
  9. Adrenal insufficiency - adrenal glands, located above the kidneys, do not produce adequate amounts of steroid hormones
  10. Hypodipsia - homeostasis is threatened by an abnormally low fluid intake
  11. Polyuria - polyuria is a condition characterized by the passage of large volumes of urine (at least 2.5 L over 24 hours in adults)


  1. Alveolar hypoventilation - insufficient ventilation leading to an increase in PaCO2
  2. Cardiorespiratory arrest - cessation of cardiac and respiratory functionReduced carbon dioxide ventilatory response
  3. Obstructive sleep apnea - pauses in breathing during sleep
  4. Cyanotic episodes - severe condition indicating a lack of oxygen in the blood supply.


  1. Opthalmalogic manifestations - most exhibit Strabismus
  2. Thermal dysregulation - episodes of hyperthermia or hypothermia
  3. Gastrointestinal dysmotility - constipation, colicky pain, and vomiting
  4. Altered perception of pain - does not feel pain
  5. Altered sweating - sweats constantly when not doing activities
  6. Cold hands and feet
  7. Bradycardia - resting heart rate of under 60 beats per minute
  8. Tumor of neural crest origin
  9. Syncopal episodes - self-limited loss of consciousness
  10. Hypertension - high blood pressure
  11. Somniloquy - sleep talking
  12. Somnambulism - sleep walking
  13. Voice Modulation - inability to control the volume of voice
  14. Enuresis - bed-wetting during sleep
  15. Hypotonia - abnormally low muscle tone
  16. Scoliosis
  17. Behavioral disorders
  18. Depression
  19. Flat affect - unable to show emotions


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