منابع مشابه
[Cornea verticillata - a clinical marker of Fabry disease: case report].
Fabry's disease is a rare X-linked lysosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of alpha-galactosidase A activity. The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident in hemizygous males, and include angiokeratomas, acroparesthesia, cornea verticillata, cardiac and kidney involvemen...
متن کاملFabry disease - importance of screening in cornea verticillata: case report.
Fabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in tissues can affect multiple organ systems. Initial symptoms includes episodes of severe pain in the extremities, cornea verticillata and skin lesions. In late stages, kidney, heart and brain can be involved. This report attempts for importance of cornea verticillata in the diagnosis of Fabry dis...
متن کاملAmiodarone-induced thyroid dysfunction.
To purchase electronic or print reprints, contact The InnoVision Group, 101 Columbia, Aliso Viejo, CA 92656. Phone, (800) 809-2273 or (949) 362-2050 (ext 532); fax, (949) 362-2049; e-mail, [email protected]. stated that he did not feel well, and before admission, he had had an episode of unexplained profuse diaphoresis, rapid heart beat, and shortness of breath. He also said that he had lost ab...
متن کاملNovel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.
Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the hydrolytic enzyme α-galactosidase A (α-Gal-A). It is characterized by progressive lysosomal accumulation of globotriaosylceramide (Gb3) and multisystem pathology, affecting the skin, nervous and cerebrovascular systems, kidneys, and heart. Heterozygous females typically exhibit milder symptoms and a later...
متن کاملAmiodarone-induced interstitial pneumonitis.
To cite: Voruganti DC, Cadaret L. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2017219373 DESCRIPTION A man aged 62 years presented with shortness of breath (SOB) for 1 week. He has a history of nonischaemic cardiomyopathy, diabetes mellitus and atrial fibrillation (AF). ECG revealed AF with rapid ventricular rate and chest X-ray was consistent with pulmonary c...
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ژورنال
عنوان ژورنال: Postgraduate Medical Journal
سال: 1998
ISSN: 0032-5473
DOI: 10.1136/pgmj.74.877.642