ATYPICAL FABRY’S DISEASE
Journal Title: Journal of Evidence Based Medicine and Healthcare - Year 2014, Vol 1, Issue 2
Abstract
Fabry‟s disease (angiokeratoma corporis diffusa) is an X linked recessive lysosomal storage disorder caused by the deficiency of alpha galactosidase A (alpha gal A) which causes progressive accumulation of glycosphingolipids in the visceral tissue & vascular endothelium. Patients with typical Fabry‟s disease usually present with characteristic cutaneous angiokeratoma, corneal dystrophy, painful acroparaesthesia, cardiovascular disease & heavy proteinuria. We are reporting a 24 year old male who presented with painful acroparaesthesia, occasional polyarthralgia & low grade intermittent fever since 12 years. He was found to have very low serum alpha galactosidase A levels. The nerve biopsy revealed chronic axonopathy which showed typical “zebra bodies” under electron microscope which is characteristic of Fabry‟s disease. Our patient did not have angiokeratomas, corneal opacities, renal or cardiac involvement. The case is being reported for its rarity & characteristic „zebra bodies‟ on electron microscopic study in the abscence of typical clinical presentation like angiokeratoma & systemic involvement
Authors and Affiliations
Shanthi Kumari B, Somasekar . D. S. , Rama Mishra R, Naveen Kumar P. , Gayathri N
Keywords
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- EP ID EP221065
- DOI 10.18410/jebmh/2014/12
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