Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation Details

Expanded Description

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) is a rare disorder that affects the governance of proper breathing.

Patients with ROHHAD,as well as patients with Congenital Central Hypoventilation Syndrome (CCHS) have damaged the mechanism governing the proper breathing. ROHHAD syndrome is potentially lethal and incurable.

Prevalence

30.0 ( Cases ) [Source]

Causes

No known causes at this time.

Disorder Symptoms

The following is a list of symptoms of ROHHAD:

Name Description
Hyperphagia Abnormally increased appetite for and consumption of food.
Diabetes Insipidus A condition in which the kidneys are unable to conserve water.
Respiratory Manifestations Respiratory Manifestations
Primary Alveolar Hypoventilation A rare disorder of unknown cause in which a person does not take enough breaths per minute.
Cardiorespiratory Arrest The cessation of normal circulation of the blood due to failure of the heart to contract effectively.
Reduced Carbon Dioxide Ventilatory Response Reduced Carbon Dioxide Ventilatory Response
Obstructive Sleep Apnea A condition in which pauses in breathing occur during sleep because the airway has become narrowed, blocked, or floppy.
Autonomic Dysregulation Autonomic dysregulation involves malfunctioning of the autonomic nervous system.
Ophthalmologic Manifestations Ophthalmologic Manifestations
Thermal Dysregulation The body's inability to regulate its temperature
Gastrointestinal Dysmotility Food does not move normally through the stomach and intestines, there often is distention of the stomach and intestines as fluid collects, and there frequently is pain.
Altered Perception of Pain Inability feel pain as intensely as normally should
Altered Sweating Can cause excessive sweating when in a relaxed period
Cold Hands and Feet Cold Hands and Feet
Tumor of Neural Crest Origin Originating in the tissues that form the sympathetic nervous system. The normal function of these nerves is to regulate the automatic and non-voluntary body functions such as heart rate, blood pressure, breathing, and digestion.
Hypothalamic Dysfunction A problem with the region of the brain called the hypothalamus, which helps control the pituitary gland and regulate many body functions.
Failed Growth Hormone Stimulation Failed Growth Hormone Stimulation
Polydipsia A medical symptom in which the patient displays excessive thirst.
Hypernatremia An electrolyte disturbance that is defined by an elevated sodium level in the blood.
Hyperprolactinemia A condition of elevated serum prolactin.
Abnormal Brain MRI Scans Abnormal Brain MRI Scans
Seizure Seizures
Enuresis Bed wetting
Hypotonia A state of low muscle tone.
Strabismus A vision condition in which a person can not align both eyes simultaneously under normal conditions. One or both of the eyes may turn in, out, up or down.

Diagnosis

No diagnosis information has been added yet.

Diagnostic Tests

There are no tests for ROHHAD at this time. Usually child exhibits multiple symptoms that may go undiagnosed until respiratory arrest occurs.

We don't have any tests yet.

Disorder Treatments

There are no treatments or cures for ROHHAD.

We don't have any treatments yet.

Prognosis

No prognosis information has been added yet

Tips for Living with the Disorder

Name Description
Tips

1.) Don’t let them just tell you your child is overweight – use your gut instinct

2.) Patience is needed with a ROHHAD child – as behavior can change overnight

3.) No matter what – this is not your fault – you are only trying to help your child

4.) LOW SODIUM FOOD – must have low sodium food – no prepackaged food

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