Adrenoleukodystrophy

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Neonatal adrenoleukodystrophy

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

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

• 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 (neonatal form - defects at chromosome 7q21-q22)

Review Date: 12/01/2005
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.