Skip to main content

Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation

This is a preview of subscription content, access via your institution.


  1. Schüller A, Wenninger S, Strigl-Pill N, Schoser B (2012) Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet 160(1):80–88

    Article  Google Scholar 

  2. Laforêt P, Petiot P, Nicolino M, Orlikowski D, Caillaud C, Pellegrini N, Froissart R, Petitjean T, Maire I, Chabriat H, Hadrane L, Annane D, Eymard B (2008) Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology 70(22):2063–2066

    PubMed  Article  Google Scholar 

  3. Sacconi S, Bocquet JD, Chanalet S, Tanant V, Salviati L, Desnuelle C (2010) Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. J Neurol 257(10):1730–1733

    PubMed  Article  Google Scholar 

  4. El-Gharbawy AH, Bhat G, Murillo JE, Thurberg BL, Kampmann C, Mengel KE, Kishnani PS (2011) Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered. Mol Genet Metab 103(4):362–366

    CAS  PubMed  Article  Google Scholar 

  5. Kroos M, Hoogeveen-Westerveld M, Michelakakis H, Pomponio R, Van der Ploeg A, Halley D, Reuser A, GAA Database Consortium (2012) Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. Hum Mutat 33(8):1161–1165

    PubMed  Article  Google Scholar 

Download references

Conflict of interest

SP received financial support from Genzyme Corp. to visit meetings about Pompe disease. As of August 2004, AR provides consulting services to Genzyme Corp. under an agreement between Genzyme Corp. and Erasmus MC, Rotterdam, the Netherlands. Erasmus MC and inventors for the method of treatment of Pompe’s disease by enzyme replacement therapy receive royalty payments pursuant to Erasmus MC policy on inventions, patents and technology transfer. Other authors report no conflict interest.

Author information

Authors and Affiliations


Corresponding author

Correspondence to S. Peric.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Peric, S., Fumic, K., Bilic, K. et al. Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation. Acta Neurol Belg 114, 165–166 (2014).

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI:


  • Late-onset Pompe disease
  • Intracranial aneurysm
  • Subarachnoid hemorrhage
  • Novel mutation
  • Lysosomal storage disease