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Radiological findings in Erdheim Chester disease: A very rare multisistemic disease.
Radiol Case Rep
May 2023
Department of Diagnostic Imaging and Interventional Radiology, University of Tor Vergata, Viale Oxford, 81, Rome 00133, Italy.
Erdheim-Chester disease is an uncommon non-Langerhans cell histiocytosis affecting multiple systems. There is limited knowledge on the imaging capabilities of this disease. We present an extremely rare case of Erdheim-Chester illness in a 67-year-old man with multisystem involvement, including the cardiovascular system, skeleton, retroperitoneum (renal and adrenal infiltration) and the neurologic system.
View Article and Find Full Text PDF[Neuropathy and Fabry's disease. Report of five cases].
Rev Med Chil
September 2018
Departamento de Neurología y Psiquiatría, Clínica Alemana de Santiago, Universidad del Desarrollo, Santiago, Chile.
Fabry's disease is an X-linked multisistemic lisosomal storage disorder caused by deficiency or absence in α-Galatosidase A. Symptoms develop early in childhood with small fiber neuropathy, autonomic disorders and skin lesions (angiokeratomas). More severe in males, patients develop over years heart disease (hypertrophic cardiomyopathy, bradycardia), proteinuria, renal failure, transient ischemic attacks and stroke, associated with decreased life expectancy.
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