ROHHAD - Boy Diagnosed with Rare Disease Quits Breathing

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ROHHAD NET - MD Consult

Click on the below images to read the medical article regarding ROHHADNET vs ROHHAD.

Endocrinologists ROHHAD Diagnosis

This was the beginning of a ROHHAD Diagnosis for Haven

Symptoms Associated with ROHHAD

HYPOTHALAMIC DYSFUNCTION:

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)
    

RESPIRATORY MANIFESTATIONS:

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.
   

AUTONOMIC DYSREGULATION:

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