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[X-linked adrenoleukodystrophy--2 case reports]

M Dumić1, J Ille, V Plavsić

  • 1Klinicki bolnicki centar Zagreb, Klinika za pedijatriju.

Lijecnicki Vjesnik
|July 3, 1998
PubMed
Summary
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Childhood cerebral adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) are X-linked disorders causing adrenal insufficiency and neurological decline due to very long chain fatty acids (VLCFA). Early diagnosis and treatment are crucial.

Area of Science:

  • Genetics and Inherited Disorders
  • Neurology
  • Endocrinology

Background:

  • Adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) are X-linked peroxisomal disorders characterized by very long chain fatty acid (VLCFA) accumulation.
  • These conditions lead to progressive demyelination, cerebral white matter destruction, and primary adrenal insufficiency.

Observation:

  • A 10-year-old boy with ALD presented with neurological signs and latent adrenal insufficiency, successfully treated with hormone replacement.
  • Lorenzo's oil reduced VLCFA levels but did not halt neurological progression in the ALD patient, who later died.
  • A 22-year-old with AMN had adrenal insufficiency diagnosed at 15 and elevated VLCFA levels, with no neurological symptoms detected at diagnosis.

Findings:

  • This report details the first four cases of ALD and AMN in Croatia, including symptomatic heterozygotes.

Related Experiment Videos

  • ALD patients may exhibit neurological symptoms like visual disturbances and seizures, while AMN may present initially with hair loss.
  • Elevated serum VLCFA levels are a key diagnostic marker for both ALD and AMN.

    • Implications:

    • Measuring serum VLCFA levels is essential for diagnosing males with primary adrenal insufficiency or unexplained neurological symptoms.
    • Increased awareness and diagnostic testing are needed to identify unrecognized cases of these peroxisomal disorders.
    • Prompt management of adrenal insufficiency is critical, though current treatments for VLCFA accumulation have limited efficacy in halting neurological progression in ALD.