Stroke in Young-Dilative Arteriopathy: A Clue to Late-Onset Pompe's Disease?

Importance: In almost a third of stroke in young cases, etiology remains unclear. We report a radiological entity which might give a clue toward detection of late onset Pompe's disease in some cases. Observation: Here we report two cases of stroke in young in which evaluation led to diagnosis of late onset Pompe's disease. Both patients presented with recurrent stroke. On evaluation, one of them was found to have slowly progressive predominantly proximal quadriparesis. His muscle biopsy showed Pompe's disease and had dolichoectasia of posterior circulation vessels. The other patient did not have any muscle weakness. Detailed workup for stroke in young was negative, but as angiogram showed intracranial vessel dolichoectasia, he was also investigated and found to have Pompe's disease. Conclusions and Relevance: We conclude that dolichoectasia of intracranial vessels in cases with stroke in young, with or without muscle weakness, should raise a differential of late onset Pompe's disease. This being one of the few treatable disorders makes the diagnosis all the more important.