Undiagnosed fabry disease. the importance of screening for fabry disease before transcutaneous patent foramen ovale closure in a young patient with cryptogenic stroke

Fabry disease (FD) is a rare, X-linked, lysosomal storage disorder caused by a deficiency in α-galactosidase A (α-GAL A) enzyme, encoded by the GLA gene and is an underdiagnosed cause of stroke in young adults . Ischemic stroke in young people is often cryptogenic. In FD stroke can be the first manifestation. An early diagnosis of FD allows an early treatment that is important in preventing cerebrovascular events and multi-organ involvement.