Adrenoleukodystrophy

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Neonatal adrenoleukodystrophy

Overview

Symptoms

Treatment

Prevention

Adrenoleukodystrophy

Alternative Names:

X-linked adrenoleukodystrophy; Melanodermic leukodystrophy; Neonatal adrenoleukodyrstophy; NALD

Symptoms:

Neonatal type:

seizures
delayed neurological development
frequent respiratory infections
darkening of the skin color (increased skin pigmentation)

Childhood and adolescent type:

hyperactivity
decreasing school performance
decreased understanding of verbal communication (aphasia)
crossed eyes
swallowing difficulties
changes in muscle tone, especially muscle spasms and spasticity

Progressive nervous system deterioration

paralysis
hearing loss
visual impairment or blindness
deteriorating fine motor control
eventually may lead to a vegetative state

Symptoms of adrenal gland failure

muscular weakness (asthenia)
wasting (loss of weight, muscle mass)
decreased appetite
increased skin pigmentation

Signs and tests:

blood levels showing elevated long chain fatty acids
skin biopsy and fibroblast culture showing elevated levels of long chain fatty acids
MRI of the head showing damage to the white matter of the brain (white matter is a specific type of brain tissue)
head CT shows damage to the white matter of the brain
chromosome study (neolatal form - defects at chromosome 7q21-q22)

Review Date: 12/1/2005
Reviewed By: Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor of Pediatrics, NYU School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network.

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