BACKGROUND AND PURPOSE Fabry disease is a multisystem X-linked disorder characterized clinically by angiokeratoma, corneal and lenticular abnormalities, acroparesthesia, and renal and cardiac dysfunction and stroke. We sought to describe novel neuroimaging characteristics of Fabry disease. METHODS Neuroradiologic records of 104 hemizygous patients with Fabry disease evaluated between 1994 and...

Fabry disease is an X-linked inborn error of glycosphingolipid metabolism caused by quantitative or qualitative defects in the lysosomal enzyme alfa-Galactosidase A (aGAL A), ultimately resulting in vital organ dysfunction. Mainly the kidneys, the heart, and the central nervous system are involved. While the classical phenotype of Fabry disease is readily recognizable, screening studies have id...

Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism resulting in the accumulation of glycolipids including globotriaosylceramide in cells of various tissues resulting in end-organ manifestations. Initially, FD is typically characterized by angiokeratoma and recurrent episodes of neuropathic pain in the extremities occurring during childhood or adolescence. Most affected p...

To the Editor : Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A (αGal A). Accumulation of globotriaosylceramide (Gb3) in different cell types eventually leads to renal insufficiency, cardiomyopathy and central nervous system (CNS) involvement (1). CNS involvement is mainly characterized by white matter lesions (WMLs) and stro...

Editor Angiokeratomas are rare vascular lesions with secondary verrucous epidermal changes. The exact pathogenesis is unknown, although genetic factors, pregnancy, chilblains, trauma and tissue asphyxia are known causal factors. We report for the first time on the successful treatment of ‘solitary and multiple papular’ type angiokeratomas of the lower extremities with a synchronized dual wavele...

of various cells, such as in the vascular endothelium of multiple organs (1). The accumulation of GL-3 in the lysosomes causes lysosomal and cellular dysfunction and this in turn, triggers the cascade of cellular and tissue ischemia and fibrosis. The estimated prevalence of Fabry disease is about one in every 117000 live born males. The classic phenotype of Fabry disease is seen Introduction Fa...

Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism resulting in the accumulation of glycolipids including globotriaosylceramide in cells of various tissues resulting in end-organ manifestations. Initially, FD is typically characterized by angiokeratoma and recurrent episodes of neuropathic pain in the extremities occurring during childhood or adolescence. Most affected p...

Abstract Background Fabry disease (FD) is a lysosomal storage that affects one or multiple organ systems and can cause left ventricular hypertrophy (LVH). FD mimic hypertrophic cardiomyopathy (HCM), clinicians occasionally miss the diagnosis of for HCM. The factors associated with FD-HCM misdiagnosis remain unclear. Purpose We sought to determine prevalence among patients LVH uncover misdiagnos...

BACKGROUND Eccrine angiomatous hamartoma (EAH) comprises a rare nevoid proliferation of normal eccrine glands and small blood vessels and occasionally other elements in the middle and deep dermis with variable clinical manifestations. Case series have rarely been published except for case reports and literature reviews. The aims of this article were to investigate the clinical and pathologic fe...

BACKGROUND Fabry disease is an inherited metabolic disorder characterized by progressive lysosomal accumulation of lipids in a variety of cell types, including neural cells. Small, unmyelinated nerve fibers are particularly affected and small fiber peripheral neuropathy often clinically manifests at young age. Peripheral pain can be chronic and/or occur as provoked attacks of excruciating pain....