The pathophysiology of giant cell arteritis (temporal arteritis) is not fully understood. The disease frequently presents itself with nonspecific complaints like headache, low-grade fever of the unknown origin. The most severe complications of giant cell arteritis include blindness and cerebrovascular incidents. The diagnosis is based on the occurrence of certain factors including age above 50 years and positive results of a temporal artery biopsy. The administration of corticosteroids remains the only proven way of treatment for giant cell arteritis so far. This report presents a case of a patient with temporal arteritis who presented such neurological complications as loss of vision and brain ischemia. A 74 year-old female was admitted to the hospital in Sanok complaining about weakness lasting for about two weeks. She also reported low-grade fever, headache, tenderness, and inflammation along the course of the temporal arteries and bilateral blurred vision (stronger in the right eye). She also complained about jaw and tongue claudication and taste loss. Based on the literature, if giant cell arteritis is suspected, the treatment with glucocorticoids should be initiated promptly to prevent neurological complications.
Choroba Taya-Sachsa (TSD, gangliozydoza GM2), to choroba uwarunkowana genetycznie dziedziczona w sposób autosomalny recesywny, zaliczana do tzw. chorób lizosomalnych. Spowodowana jest zmniejszeniem aktywności lub brakiem syntezy enzymu heksozaminidazy A, który uczestniczy w przemianie substancji tłuszczowych zwanych gangliozydami. W rezultacie prowadzi do ich patologicznego gromadzenia w mózgu. Występuje najczęściej u Żydów aszkenazyjskich. W poniższej pracy zaprezentowano przypadek 11 letniej dziewczynki, u której postawiono rozpoznanie choroby Taya-Sachsa, mimo braku pochodzenia żydowskiego oraz braku pokrewieństwa pomiędzy rodzicami.
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