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Academia Mexicana de Neurología, A.C.

2010, Number 5

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Rev Mex Neuroci 2010; 11 (5)

Fabry’s disease: Ischemic stroke in a young patient and its diagnostic approach

Soto MA, Díaz RB, De los Ríos D, García-Ramos G

Language: Spanish
References: 20
Page: 359-362
PDF size: 122.54 Kb.


ABSTRACT

Introduction: Fabry’s disease represents a diagnostic challenge, particularly in those cases which first clinical manifestation is stroke. Case report: A 24 years old male, which began with periorbital bifrontal headache, evolved into drowsiness, fatigue, weakness, incomplete paralysis of left third cranial nerve and ipsilateral ptosis, was referred to this institution and documented the presence of cornea verticillata, periumbilical angiokeratomas, left medial mesencephalic and thalamic infarction, fully functional cardiac and renal systems. The diagnosis was confirmed due to the deficiency of the enzyme alpha-galactosidase A, and began replacement therapy with Fabrazyme.


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