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[White matter lesions leading to the diagnosis of pseudoxanthoma elasticum]

M-A Dalloz1, R Debs, C Bensa

  • 1Service de Neurologie, Hôpital Tenon, 4 Rue de la Chine, 75020 Paris, France. mdalloz@hotmail.com

Revue Neurologique
|March 19, 2010
PubMed

Insights

Pseudoxanthoma elasticum (PXE), a genetic disorder, can manifest as cerebral white matter lesions. Early diagnosis through genetic testing is crucial for managing this rare connective tissue disease.

Area of Science:

  • Genetics
  • Neurology
  • Dermatology

Background:

  • Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder with diverse clinical manifestations.
  • PXE commonly affects the skin, eyes, and cardiovascular system, with cerebrovascular involvement being less frequent.

Observation:

  • A 32-year-old woman presented with incidentally detected cerebral white matter lesions.
  • The observed lesions were consistent with vascular leukopathy.
  • Physical examination revealed characteristic skin findings and retinal angioid streaks, suggestive of PXE.

Findings:

  • Skin biopsy confirmed calcification of elastic fibers.
  • Genetic sequencing identified mutations in the ABCC6 gene, confirming the diagnosis of PXE.
  • Neurological examination, cerebrospinal fluid, and biological assessments were within normal limits.

Implications:

  • PXE should be considered in cases of unexplained cerebral microangiopathy.
  • This case highlights the importance of a multidisciplinary approach in diagnosing rare genetic disorders.
  • Recognizing PXE's potential neurological impact is vital for comprehensive patient care.

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