Creutzfeldt-Jakob disease is the most common form of human prion diseases. A 57-year-old woman was transferred to our Department from a local hospital, where she had been treated for two weeks due to consciousness disorders and convulsive epileptic attacks that progressed to refractory status epilepticus. Electroencephalography showed diffuse spike-wave complex discharges and development of nonconvulsive status epilepticus. The causes of metabolic encephalopathy and paraneoplastic syndrome were ruled out. A combination of clinical features and findings of diagnostic procedures including electroencephalography, biomarkers in the cerebrospinal fluid and magnetic resonance imaging suggested with great probability that the patient was affected with sporadic Creutzfeldt-Jakob disease.Creutzfeldt-Jakobova bolest je najčešći oblik prionske bolesti u ljudi. Prikazuje se slučaj bolesnice koja je prevezena u našu Kliniku iz manje bolnice, gdje je bila liječena dva tjedna zbog poremećaja stanja svijesti i konvulzivnih epileptičnih napadaja koji su progredirali do epileptičnog statusa koji je bio refraktoran na primijenjenu terapiju. Elektroencefalografija je prikazala difuzna izbijanja kompleksa šiljak-val i razvoj nekonvulzivnog epileptičnog statusa. Koristeći kombinaciju kliničkih značajka i nalaza dijagnostičkih pretraga uključujući elektroencefalografiju, biomarkere u cerebrospinalnoj tekućini i nalaze magnetske rezonance zaključeno je s velikom vjerojatnošću da se radi o sporadičnom obliku Creutzfeldt-Jakobove bolesti

Darko Bedek

Karla Sabolek

Lejla Ćorić

Sara Drnasin

Snježana Miškov

Vesna Vargek-Solter

Vida Demarin

Višnja Supanc

English

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Acta Clin Croat,  Vol. 51,  No. 1,  2012 89Acta Clin Croat 2012; 51:89-92 Case ReportSPORADIC CREUTZFELDT-JAKOB DISEASE IN A PATIENT WITH EPISODES OF NONCONVULSIVE STATUS EPILEPTICUS: CASE REPORTLejla Ćorić1, Vesna Vargek-Solter1, Višnja Supanc1, Snježana Miškov1, Sara Drnasin1, Karla Sabolek2, Darko Bedek3 and Vida Demarin1 1University Department of Neurology, Sestre milosrdnice University Hospital Center, Zagreb; 2Department of Neurology, Čakovec General Hospital, Čakovec; 3Department of Radiology, Sestre milosrdnice University Hospital Center, Zagreb, CroatiaSUMMARy – Creutzfeldt-Jakob disease is the most common form of human prion diseases. A 57-year-old woman was transferred to our Department from a local hospital, where she had been treated for two weeks due to consciousness disorders and convulsive epileptic attacks that progre-ssed to refractory status epilepticus. Electroencephalography showed diffuse spike-wave complex discharges and development of nonconvulsive status epilepticus. The causes of metabolic encephalo-pathy and paraneoplastic syndrome were ruled out. A combination of clinical features and findings of diagnostic procedures including electroencephalography, biomarkers in the cerebrospinal fluid and magnetic resonance imaging suggested with great probability that the patient was affected with sporadic Creutzfeldt-Jakob disease.Key words: Prion diseases; Creutzfeldt-Jakob disease, sporadic; Creutzfeldt-Jakob disease, diagnosis; Status epilepticus, nonconvulsive Correspondence to: Lejla Ćorić, MD, Sestre milosrdnice Univer-sity Hospital Center, Vinogradska cesta 29, HR-10000 Zagreb, CroatiaE-mail: lejlas@net.hrReceived November 2, 2010, accepted March 23, 2012IntroductionPrion diseases are a large group of transmittable neurodegenerative disorders that affect both animals and humans. All of them have long incubation and fatal outcome. They are unique in that they can be inherited, occur sporadically, or be infectious1. The most common human prion disease is sporadic Creutzfeldt-Jakob dis-ease (sCJD). It is found worldwide, with an incidence of about 1 case per million in general population2.The main pathogenic mechanism is conversion of the native cellular prion protein (PrP) into a patho-logic, abnormal isoform that has a tendency to accu-mulate and form deposits in the brain3,4.Case ReportA 57-year-old woman was transferred to our De-partment from a local hospital, where she had been treated for two weeks due to the state of confusion ac-companied by vomiting and headache, and conscious-ness disorders. Vomiting and headache had lasted for two days, after which she became disoriented. On two occasions, partial motor and secondarily gener-alized tonic-clonic seizures appeared and progressed to status epilepticus that was partially persistent on all antiepileptic drugs administered. The patient was treated with levetiracetam 1000 mg three times a day and phenytoin 400 mg twice daily. Diagnostic work-up and multi-slice computer tomography (MSCT) of the brain undertaken in the local hospital did not de-termine the cause of the encephalopathy.The patient’s medical history revealed cirrhosis and bleeding from esophageal varices, which oc-90 Acta Clin Croat,  Vol. 51,   No. 1,  2012Lejla Ćorić et al. Sporadic Creutzfeldt-Jakob disease in a patient with episodes of nonconvulsive status epilepticus: case reportcurred three years prior to the present hospitalization. In the past year, she was treated by a psychiatrist for an anxious-depressive syndrome. A year before, she underwent surgery because of basal cell carcinoma of the mandible.At admission to our Department, she was con-scious, Glasgow Coma Scale (GCS) 10; she could spontaneously open her eyes, but verbal contact was not possible, she was unable to follow motion with her gaze and uncooperative for instructions given on neurologic examination. Her pupils were of equal shape, with normal response to photostimulation, and there were occasional myoclonic jerks on the right side of the head. All four extremities were falling to the ground, while the upper extremities showed high tone. Periodically she moved all four limbs to a lesser extent. Babinski’s sign was positive on the left leg. She was of normal cardiorespiratory status, normo-tensive, afebrile.Electroencephalography was per-formed repeatedly. In the beginning, it showed continuous pointed waves tem-porally on the right, and on the next day diffuse spike-wave complex discharges at a rate of 2-3 Hz were re-corded (Fig. 1). Throughout the recording, the patient was in nonconvulsive status epilepticus. An epilepsy specialist was consulted and switching of antiepileptic drugs gradually led to deceleration of brain activity, appearance of delta waves and discharge of spike-wave complex with periodic triphasic complexes5. Pheny-toin was gradually replaced by valproic acid 500 mg three times a day and levetiracetam dose was reduced from 3000 mg to 2500 mg daily (Fig. 2). Magnetic resonance brain images (FLAIR and DWI) revealed high signal abnormalities in the insu-lar cortex bilaterally and in the right temporal region (Figs. 3 and 4).Paraneoplastic antibodies (Anti yo, Anti Hu and Anti-Ri) in the serum were negative. Serologic findings on vi-ral causes of encephalitis were negative. Lumbar puncture was performed and a clear, colorless cerebrospinal fluid with 1/3 cells and 0.28 proteins was obtained. The finding of biomarkers in cerebrospi-nal fluid showed positive protein 14-3-3, TauAg (6250.0 pg/mL; ref. 80.0-149.8) and NSE (20.5 μg/L; ref. 0.0-15.5 μg/L). Fig. 1. EEG (at admission to our Department) showed diffuse spike-wave complex discharges at a rate of 2-3 Hz.Fig. 2. EEG detection of delta waves and discharge of spike-wave complex with periodic triphasic complexes.Acta Clin Croat,  Vol. 51,  No. 1,  2012 91Lejla Ćorić et al. Sporadic Creutzfeldt-Jakob disease in a patient with episodes of nonconvulsive status epilepticus: case reportSix months after admission, the patient died in the state of akinetic mutism.DiscussionThe clinical picture in patients with sCJD is most-ly characterized by rapidly progressive dementia and cognitive decline, movement disorders, myoclonic jerks, visual disturbances and cerebellar ataxia6,7. Fo-cal and generalized seizures are uncommon symptoms of this prion disease7,8. Also, nonconvulsive status epi-lepticus has been described in several reports as a rare presentation of sCJD9-12. Definitive diagnosis of CJD can only be made by brain biopsy (neuropathology). In 2009, Zerr et al. published amendments to the clinical diagnostic criteria for sCJD, based on their results obtained in a multicenter international study. The new clinical criteria for premortem diagnosis of sCJD include the following: I clinical signs: 1) dementia, 2) cerebellar or visual, 3) pyramidal or extrapyramidal, and 4) aki-netic mutism; and II tests: 1) EEG detection of peri-odic sharp wave complexes, 2) elevated levels of 14-3-3 protein in cerebrospinal fluid, and 3) high signal abnormalities in caudate nucleus and putamen or at least two cortical regions (temporal-parietal-occipital) either on DWI or FLAIR6.We report on a 57-year-old woman admitted to our Department because of confusion, alteration of men-tal state and seizures that occurred for the first time in her life. The initial clinical findings were compat-ible with nonconvulsive status epilepticus. The chang-ing of antiepileptic therapeutics led to deceleration of brain activity5. A combination of clinical features and findings of diagnostic procedures including electroen-cephalography, biomarkers in the cerebrospinal fluid and MRI suggested with great probability that the patient was affected with sCJD.References1. IRONSIDE JW. Prion diseases in man. J Pathol 1998;186:227-34.  2. HOLMAN RC, BELAy ED, CHRISTENSEN Ky, MAD-DOx RA, MININO AM, FOLKEMA AM. Human prion diseases in the United States. PLos One 2010;5(1):e8521. 3. GRAZIANO S, POCCHIARI M. Management and pre-vention of human prion diseases. Curr Neurol Neurosci Rep 2009;9:423-9.4. LEURS L, PANZA G, HENKE F, AGyENIM T, WEISS J, WILLBOLD D, et al. Amyloid formation: age-related mechanism in Creutzfeldt-Jakob disease? Rejuvenation Res 2010, 13(2-3):214-6.5. MISKOV S, ROJE BEDEKOVIC M, MIKULA I, DE-MARIN V. Etiology and treatment of epilepsy in the elderly. Acta Med Croat 2005;59:63-7Fig. 3. MRI brain images (FLAIR and DWI) revealed high signal abnormalities in the insular cortex bilaterally and in the right temporal region.92 Acta Clin Croat,  Vol. 51,   No. 1,  2012Lejla Ćorić et al. Sporadic Creutzfeldt-Jakob disease in a patient with episodes of nonconvulsive status epilepticus: case report6. ZERR I, KALLENNBERG K, SUMMERS DM, ROME-RO C, TARATUTO A, HEINEMANN U et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob dis-ease. Brain 2009;132(Pt 10):2659-68.7. SPERO M, LAZIBAT I. Creutzfeldt-Jakob disease: case report and review of the literature. Acta Clin Croat 2010;49:181-7.8. TASKIRAN A, TEZER FI, SAyGI S. Epilepsia partialis continua as the presenting symptom in probable sporadic Creutzfeldt-Jakob disease. Epileptic Disord 2010;13:82-7.9. BAUER G, TRINKA E. Nonconvulsive status epilepticus and coma. Epilpesia 2010;51:177-90. Epub 2009 Sep 1010. NEUFELD My, TALIANSKI-ARONOV A, SOFFER D, KORCZyN AD. Generalized convulsive status epilepticus in Creutzfeldt-Jakob disease. Seizure 2003;12:403-10.11. FERNANDEZ-TORRE JL, SOLAR DM, ASTUDI-LLO A, CERECEDA R, ACEBES A, CALATAyUD MT. Creutzfeldt-Jakob disease and non-convulsive status epilepticus:a clinical and electroencephalographic follow-up study. Clin Neurophysiol 2004;115:316-912. COHEN D, KUTLUAy E, EDWARDS J, PELTIER A, BEyDOUN A.Sporadic Creutzfeldt-Jakob disease present-ing with nonconvulsive status epilepticus. Epilepsy Behav 2004;5:792-6SažetakSPORADIČNI OBLIK CREUTZFELDT-JAKOBOVE BOLESTI U BOLESNICE S ISPADIMA NEKONVULZIVNOG EPILEPTIČNOG STATUSA: PRIKAZ SLUČAJAL. Ćorić, V. Vargek-Solter, V. Supanc, S. Miškov, S. Drnasin, K. Sabolek, D. Bedek i V. DemarinCreutzfeldt-Jakobova bolest je najčešći oblik prionske bolesti u ljudi. Prikazuje se slučaj  bolesnice koja je prevezena u našu Kliniku iz manje bolnice, gdje je bila liječena dva tjedna zbog poremećaja stanja svijesti i konvulzivnih epileptičnih napadaja koji su progredirali do epileptičnog statusa koji je bio refraktoran na primijenjenu terapiju. Elektroencefalografija je prikazala difuzna izbijanja kompleksa šiljak-val i razvoj nekonvulzivnog epileptičnog statusa. Koristeći kombinaciju kli-ničkih značajka i nalaza dijagnostičkih pretraga uključujući elektroencefalografiju, biomarkere u cerebrospinalnoj tekućini i nalaze magnetske rezonance zaključeno je s velikom vjerojatnošću da se radi o sporadičnom obliku Creutzfeldt-Jakobove bolesti.Ključne riječi: Prionska bolest; Creutzfeldt-Jakobova bolest, sporadični oblik; Creutzfeldt-Jakobova bolest, dijagnostika; Epi-leptični status, nekonvulzivni

Sporadični oblik Creutzfeldt-Jakobove bolesti u bolesnice s ispadima nekonvulzivnog epileptičnog statusa: prikaz slučaja

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Sporadični oblik Creutzfeldt-Jakobove bolesti u bolesnice s ispadima nekonvulzivnog epileptičnog statusa: prikaz slučaja

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