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[Adrenoleukomyeloneuropathy. A familial case].

J L Gastaut1, J F Pellissier, B Pfister

  • 1Service de Neurologie, Hôpital Sainte Marguerite, Marseille.

Revue Neurologique
|January 1, 1988
PubMed
Summary

Adrenomyeloneuropathy (AMN), a rare X-linked peroxisomal disorder, presents with adrenal insufficiency and progressive neurological decline. This case highlights the genetic link between AMN and adrenoleukodystrophy (ALD) within families.

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Area of Science:

  • Genetics
  • Neurology
  • Endocrinology

Background:

  • Adrenomyeloneuropathy (AMN) is an X-linked recessive disorder affecting the adrenal glands and nervous system.
  • It is a variant of adrenoleukodystrophy (ALD), a group of inherited metabolic disorders affecting the myelin sheath of nerves.
  • AMN is characterized by adrenal insufficiency and progressive spastic paraplegia.

Observation:

  • A 24-year-old man presented with a history of adrenal insufficiency since infancy, melanoderma, cognitive decline, psychiatric issues, and spastic paraplegia from age 16.
  • Family history revealed additional cases of adrenoleukodystrophy (ALD), confirming a genetic predisposition.
  • Sural nerve biopsy showed peripheral neuropathy with characteristic lamellar inclusions, and evoked potential studies indicated central nervous system abnormalities.

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Findings:

  • The diagnosis of Adrenomyeloneuropathy (AMN) was confirmed through clinical presentation, family history, nerve biopsy findings, and elevated plasma very long-chain fatty acids.
  • This case demonstrates the potential co-occurrence of AMN and ALD within the same family, suggesting a shared genetic basis.
  • Multinodal evoked potential studies revealed supraspinal central nervous system involvement.

Implications:

  • Adrenomyeloneuropathy (AMN) is a peroxisomal disease with no current effective therapy for neurological symptoms.
  • Early diagnosis and genetic counseling are crucial for families with a history of X-linked leukodystrophies.
  • Further research into the pathogenesis and treatment of AMN and related peroxisomal disorders is warranted.