ROHHAD = Rapid-Onset Obesity, Hypthalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation

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
Clinically overlapping cases exist because CCHS phenotype can also include autonomic nervous system dysregulation, or tumors of neural crest origin.

Graphic from Children's Memorial web site

Where to find more info about ROHHAD on the Internet:

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