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Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease

P Laforêt1, P Petiot, M Nicolino

  • 1Institut de Myologie, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris Cedex 13, France. pascal.laforet@psl.aphp.fr

Neurology
|May 29, 2008
PubMed
Abstract

Insights

Late-onset Pompe disease may lead to serious brain vessel issues like aneurysms and arteriopathy. Early recognition and monitoring are crucial for managing these Pompe disease complications.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Medicine

Background:

  • Late-onset Pompe disease is a rare genetic disorder.
  • Cerebral vessel complications, including aneurysms and arteriopathy, are increasingly recognized in Pompe disease patients.
  • These vascular issues may be an underdiagnosed aspect of the disease.

Observation:

  • Three French patients with late-onset Pompe disease exhibited cerebral artery abnormalities.
  • Case 1: A fatal giant fusiform basilar artery aneurysm at age 35.
  • Case 2: Dolichoectatic basilar artery in a 34-year-old sibling.
  • Case 3: Dilative arteriopathy with carotid artery dissection at age 50.

Findings:

  • Pompe disease is associated with an increased risk of dilative arteriopathy and cerebral aneurysms.
  • Enzyme replacement therapy (alglucosidase alfa) was administered to two patients.
  • One patient on enzyme replacement therapy showed no progression of vascular abnormalities during follow-up.

Implications:

  • Pompe disease should be considered a predisposing factor for cerebral aneurysms and dilative arteriopathy.
  • Further research is needed to determine the exact incidence of these vascular complications.
  • Enhanced surveillance for cerebrovascular disease is recommended for individuals with late-onset Pompe disease.

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