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Pediatric adrenoleukodystrophy (ALD)
Pediatric adrenoleukodystrophy (ad·re·no·leu·ko·dys·tro·phy) or ALD, also known as X-linked adrenoleukodystrophy (X-ALD), is a genetic disease that causes problems in a child’s nervous system and adrenal glands.
What is pediatric adrenoleukodystrophy (ALD)?
Adrenoleukodystrophy (ALD), also known as X-linked adrenoleukodystrophy (X-ALD), is a rare, genetic disorder in which the body cannot break down fatty acids in the brain. The resulting buildup of fatty acids leads to a breakdown of the myelin sheath – the insulation covering that protects the nerve fibers in the brain. This makes it impossible for nerves in the body to communicate with the brain. ALD also affects the adrenal gland, which produces important hormones that control metabolism, blood pressure and the body’s responses to stress.
What are the different types of pediatric adrenoleukodystrophy (ALD)?
There are three main types of adrenoleukodystrophy:
- Addison’s disease - A disorder in which the adrenal glands do not produce enough hormones.
- Adrenomyelopathy - A condition that causes spinal cord dysfunction, and typically affects young adult males.
- Cerebral ALD - A severe form of adrenoleukodystrophy that damages the myelin sheath and prohibits the brain from working properly. This form only affects boys, with symptoms usually starting between ages 2 and 10.
What are the signs and symptoms of pediatric adrenoleukodystrophy (ALD)?
The symptoms of adrenoleukodystrophy depend on the type your child develops.
Symptoms of Addison’s disease include:
- Craving salt or salty foods
- Decreased appetite
- Depression
- Diarrhea
- Extreme fatigue (tiredness)
- Fainting
- Hyperkalemia (high potassium)
- Hyperpigmentation (darkening of the skin)
- Hypoglycemia (low blood sugar)
- Hyponatremia (low sodium)
- Hypotension (low blood pressure)
- Irritability
- Muscle or joint pain
- Nausea or vomiting
- Pain in the abdomen, lower back or legs
- Weight loss
Symptoms of adrenomyelopathy include:
- Adrenal gland insufficiency
- Behavior problems
- Bladder problems
- Difficulty walking
- Hypertonia (excessive muscle tone)
- Loss of coordination of muscle movement
- Nausea or vomiting
- Seizures
- Vision problems
- Weight loss
Symptoms of cerebral ALD include:
- Aggressive behavior
- Behavior problems
- Difficulty reading and writing
- Difficulty swallowing
- Hearing problems
- Memory problems
- Poor coordination
- Problems speaking
- Seizures
- Vision problems
What are the causes of pediatric adrenoleukodystrophy (ALD)?
Adrenoleukodystrophy is caused by a gene mutation on the X chromosome, which is passed on from a mother to her child. The condition is more common in males.
How is pediatric adrenoleukodystrophy (ALD) treated?
Hydrocortisone injection video
This injection should be used when your child cannot take Hydrocortisone or Prednisone by mouth due to vomiting or unconsciousness. Please utilize this video as a periodic refresher so that if or when you need to give this injection you feel comfortable doing so. After administering Solu-Cortef, you should call 911 or call our office at 214-456-5959. Learn more about hydrocortisone injections in children.
Pediatric adrenoleukodystrophy (ALD) doctors and providers
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Perrin White, MD Pediatric Endocrinologist