Presentation
Skin
- Chronic Abscess
A chronic abscess state may be the most important factor associated with permanent hormone deficiency. [ncbi.nlm.nih.gov]
Neurologic
- Chronic Progressive External Ophthalmoplegia
Multisystem disorder in late-onset chronic progressive external ophthalmoplegia. Can. J. Neurol. Sci. 38, 119–123 (2011). 136. Hu, H. et al. [nature.com]
Workup
Serum
- Alpha-Galactosidase A Deficiency
BACKGROUND: Fabry disease (FD) is a genetic disorder caused by lysosomal alpha-galactosidase-A deficiency and is characterized by the systemic accumulation of globotriaosylceramide. [ncbi.nlm.nih.gov]