Acta clinica Croatica, Vol. 43 No. 1, 2004.
Ostalo
Prolonged Course of Creutzfeldt - Jakob disease with Excessive Central Nervous System Degeneration
Michael Drobný
Milan R. Voško
Egon Kurča
Eva Mitrová
Vladimír Nosál
Božena Pit'hová
Dušan Trstenský
Mária Adamková
Daniela Šúturová
Vladimíra Verchovodková
Vladimír Mlynárik
Dušan Dobrota
Sažetak
In Slovak genetic Creutzfeldt-Jakob disease patients with E200K mutation in the prion protein gene the mean duration of clinical stage is significantly shorter in methionine homozygous then in methionine / valine heterozygous patients (3.70±2.00 vs. 7.84±7.30 months). An atypical prolonged course (13 months) of Creutzfeldt-Jakob disease complicated by malignant neuroleptic syndrome in a 48-year-old methionine homozygous carrier of E200K mutation is reported. Progression was documented by computed tomography, magnetic resonance imaging, functional-biochemical magnetic resonance spectroscopy, and electroencephalography. Post mortem neurohistologic findings confirmed the definitive diagnosis of Creutzfeldt-Jakob disease and revealed severe reduction of cerebral and cerebellar cortex with almost complete depletion of neuronal cells. The possible explanation of unusual duration of the disease in genetic Creutzfeldt-Jakob disease is discussed. The importance of early diagnosis and timely therapeutic intervention (when effective treatment becomes available) sufficiently preceding the development of irreversible degenerative changes if the central nervous system is emphasized.
Ključne riječi
Creutzfeldt-Jakob syndrome - genetics; Prions diseases-diagnostics; Prions genetics; Central nervous system - degeneration; Case report
Hrčak ID:
14440
URI
Datum izdavanja:
1.3.2004.
Posjeta: 1.316 *