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Generalized convulsive status epilepticus in Creutzfeldt–Jakob disease
Seizure 2003; 12: 403–405
doi:10.1016/S1059–1311(02)00378-3
CASE REPORT
Generalized convulsive status epilepticus in Creutzfeldt–Jakob disease MIRI Y. NEUFELD †,‡ , ALISIA TALIANSKI-ARONOV ‡ , DOV SOFFER § & AMOS D. KORCZYN ¶ † Department
of Neurology, EEG and Epilepsy Unit, Tel-Aviv Sourasky Medical Center, Tel-Aviv 64239, Israel; ‡ Department of Neurology, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; § Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; ¶ Sieratzki Chair of Neurology, Tel-Aviv University, Tel-Aviv, Israel Correspondence to: Dr Miri Y. Nuefeld, Department of Neurology, EEG and Epilepsy Unit, Tel-Aviv Sourasky Medical Center, 6 Weizmann Street, Tel-Aviv 64239, Israel. E-mail: [email protected]
We report a patient who was referred to our department because of generalized status epilepticus. His condition deteriorated rapidly and he died 1 month after admission. Autopsy confirmed the clinical diagnosis of Creutzfeldt–Jakob disease (CJD). CJD should be added to the list of rare but possible causes of generalized status epilepticus. © 2003 BEA Trading Ltd. Published by Elsevier Science Ltd. All rights reserved. Key words: Creutzfeldt–Jakob disease; seizures; status epilepticus.
INTRODUCTION Creutzfeldt–Jakob disease (CJD), or subacute spongiform encephalopathy, is one of the prion diseases and may be sporadic, familial or iatrogenic1 . The common presentations include rapidly progressive cognitive decline, behavioral changes, cerebellar dysfunction and visual disturbances1 . It affects the brain diffusely, although predominantly unilateral presentation has been described2 . With disease progression, the normal EEG changes to generalized slowing, and periodic sharp waves may eventually appear as either periodic generalized discharges3 or periodic lateralized discharges (PLEDs)4 . Myoclonic jerks are typically seen at more advanced stages of the disease1 . Focal motor or generalized seizures have been reported to occur in only 10–l5% of patients5, 6 . Seizures as a presenting symptom in patients with CJD were reported only occasionally7 , while published cases of partial status epilepticus as a presentation of CJD are rare8–10 . We 1059–1311/$30.00
describe a patient who was diagnosed as having CJD following hospitalization for a generalized convulsive status epilepticus.
CASE REPORT A 62-year-old man of Tunisian Jewish origin was admitted because of status epilepticus with simple partial motor (left face and limbs) and secondarily generalized tonic clonic seizures. His past history was remarkable for hypertension, chronic obstructive pulmonary disease and recurrent episodes of paranoid schizophrenia. Four months earlier, his psychiatrist had noted that the patient’s thoughts were less organized and that he had become depressed: treatment consisted of olanzapine and valproic acid. Subsequently, his family noticed that his behavior and memory became impaired and that his gait had become unsteady.
© 2003 BEA Trading Ltd. Published by Elsevier Science Ltd. All rights reserved.
404
M. Y. Neufeld et al.
Fig. 1: The EEG at 2 weeks following hospitalization showing diffuse slowing, suppression of background activity and bilateral synchronous periodic epileptiform discharges.
Physical examination upon admission was normal. He displayed left-side brisk reflexes and an extensor plantar response. He had recurrent left-sided motor seizures with secondary generalization without regaining full consciousness. He was treated with a loading dosage of phenytoin 30 mg kg−1 followed by phenobarbital 20 mg kg−1 . Subsequently, despite of maintenance with phenytoin 400 mg per day, phenobarbital 200 mg per day and valproic acid 2000 mg per day, he had persistent simple partial seizures with occasional secondary generalization. Routine hematological and biochemical examinations were normal. The cerebrospinal fluid was colorless, clear and under normal pressure. The protein, glucose and blood cell counts were normal, and protein 14-3-3 was positive. Brain magnetic resonance imaging (MRI) showed several small hyperintense lesions in both white and gray matter on T2-weighted sequences. An EEG showed lateralized right-sided periodic (1 Hz) epileptiform activity in addition to generalized background slowing. DNA analysis revealed a codon E200K mutation in the PRNP gene11 . He developed generalized myoclonic jerks, and the EEG demonstrated
bilateral periodic activity (Fig. 1). He died 1 month after admission. The autopsy confirmed the clinical and EEG impression of spongiform encephalopathy characteristic of CJD.
DISCUSSION Myoclonic jerks are one of the most common symptoms in patients with CJD. While focal and generalized seizures may occur in the course of CJD, they are not frequent events. Epilepsia partialis continua as the first symptom of CJD was described in a few reports9, 10 . Rees et al.8 described two cases presenting as complex partial status epilepticus. Among 21 patients with CJD reported by Cokgor et al.6 , 5 had focal motor seizures with or without secondary generalization, and one had generalized status epilepticus. Our patient was hospitalized following the development of generalized status epilepticus that was secondarily generalized. There was no history of previous seizures. He continued to have focal motor seizures with secondary generalization
Generalized convulsive status epilepticus in CJD
in spite of aggressive medical treatment. Generalized status epilepticus is not uncommon in acute neurological conditions such as intoxication, head trauma, central nervous system infection, cerebral infarct and degenerative diseases. We propose that CJD should be added to the list as one of the rare but possible causes of generalized status epilepticus.
REFERENCES 1. Korczyn, A. D. Prion diseases. Current Opinions in Neurology 1997; 10: 273–281. 2. Yamanouchi, H., Budka, H. and Vass, K. Sr. Unilateral Creutzfeldt–Jakob disease. Neurology 1986; 11: 1517–1520. 3. Levy, S. R., Chiappa, K. H., Burke, C. J. and Young, R. R. Early evolution and incidence of EEG abnormalities in CJD. Journal of Clinical Neurophysiology 1986; 3: l– 24. 4. Au, W. J., Gabor, A. J., Vijayan, N. and Markand, O. N. Periodic lateralized complexes in Creutzfeldt–Jakob disease. Neurology 1980; 30: 61l–617.
405 5. Roos, R., Gajdusek, D. C. and Gibbs, C. J. The clinical characteristics of transmissible Creutzfeldt–Jakob disease. Brain 1973; 96: l–20. 6. Cokgor, I., Rozear, M. and Morgenlander, J. C. Seizures and Creutzfeldt–Jakob disease. A case report and series review. North Carolina Medical Journal 1999; 2: 108–109. 7. Aronyk, K., Petito, F. and Solomon, G. E. Partial elementary motor seizures as the first symptom of Creutzfeldt–Jakob disease. Annals of Neurology 1984; 15: 210–211. 8. Rees, J. H., Smith, S. J., Kullmamr, D. M., Hirsch, N. P. and Howard, R. S. Creutzfeldt–Jakob disease presenting as complex partial status epilepticus: a report of two cases. Journal of Neurology, Neurosurgery and Psychiatry 1999; 66: 406–407. 9. Lee, K., Haight, E. and Olejniczak, P. Epilepsia partialis continua in Creutzfeldt–Jakob disease. Acta Neurologica Scandinavica 2000; 102: 398–402. 10. Parry, J., Tuch, P., Knezevic, W. and Fabian, V. Creutzfeldt– Jakob syndrome presenting as epilepsia partialis continua. Journal of Clinical Neuroscience 2001; 3: 266–268. 11. Goldfarb, L. G., Korczyn, A. D., Brown, P., Chapman, J. and Gajdusek, D. C. Mutation in codon 200 of scrapie amyloid precursor gene linked to Creutzfeldt–Jakob disease in Sephardic Jews of Libyan and non-Libyan origin. Lancet 1990; 336: 637–638.
doi:10.1016/S1059–1311(02)00378-3
CASE REPORT
Generalized convulsive status epilepticus in Creutzfeldt–Jakob disease MIRI Y. NEUFELD †,‡ , ALISIA TALIANSKI-ARONOV ‡ , DOV SOFFER § & AMOS D. KORCZYN ¶ † Department
of Neurology, EEG and Epilepsy Unit, Tel-Aviv Sourasky Medical Center, Tel-Aviv 64239, Israel; ‡ Department of Neurology, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; § Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; ¶ Sieratzki Chair of Neurology, Tel-Aviv University, Tel-Aviv, Israel Correspondence to: Dr Miri Y. Nuefeld, Department of Neurology, EEG and Epilepsy Unit, Tel-Aviv Sourasky Medical Center, 6 Weizmann Street, Tel-Aviv 64239, Israel. E-mail: [email protected]
We report a patient who was referred to our department because of generalized status epilepticus. His condition deteriorated rapidly and he died 1 month after admission. Autopsy confirmed the clinical diagnosis of Creutzfeldt–Jakob disease (CJD). CJD should be added to the list of rare but possible causes of generalized status epilepticus. © 2003 BEA Trading Ltd. Published by Elsevier Science Ltd. All rights reserved. Key words: Creutzfeldt–Jakob disease; seizures; status epilepticus.
INTRODUCTION Creutzfeldt–Jakob disease (CJD), or subacute spongiform encephalopathy, is one of the prion diseases and may be sporadic, familial or iatrogenic1 . The common presentations include rapidly progressive cognitive decline, behavioral changes, cerebellar dysfunction and visual disturbances1 . It affects the brain diffusely, although predominantly unilateral presentation has been described2 . With disease progression, the normal EEG changes to generalized slowing, and periodic sharp waves may eventually appear as either periodic generalized discharges3 or periodic lateralized discharges (PLEDs)4 . Myoclonic jerks are typically seen at more advanced stages of the disease1 . Focal motor or generalized seizures have been reported to occur in only 10–l5% of patients5, 6 . Seizures as a presenting symptom in patients with CJD were reported only occasionally7 , while published cases of partial status epilepticus as a presentation of CJD are rare8–10 . We 1059–1311/$30.00
describe a patient who was diagnosed as having CJD following hospitalization for a generalized convulsive status epilepticus.
CASE REPORT A 62-year-old man of Tunisian Jewish origin was admitted because of status epilepticus with simple partial motor (left face and limbs) and secondarily generalized tonic clonic seizures. His past history was remarkable for hypertension, chronic obstructive pulmonary disease and recurrent episodes of paranoid schizophrenia. Four months earlier, his psychiatrist had noted that the patient’s thoughts were less organized and that he had become depressed: treatment consisted of olanzapine and valproic acid. Subsequently, his family noticed that his behavior and memory became impaired and that his gait had become unsteady.
© 2003 BEA Trading Ltd. Published by Elsevier Science Ltd. All rights reserved.
404
M. Y. Neufeld et al.
Fig. 1: The EEG at 2 weeks following hospitalization showing diffuse slowing, suppression of background activity and bilateral synchronous periodic epileptiform discharges.
Physical examination upon admission was normal. He displayed left-side brisk reflexes and an extensor plantar response. He had recurrent left-sided motor seizures with secondary generalization without regaining full consciousness. He was treated with a loading dosage of phenytoin 30 mg kg−1 followed by phenobarbital 20 mg kg−1 . Subsequently, despite of maintenance with phenytoin 400 mg per day, phenobarbital 200 mg per day and valproic acid 2000 mg per day, he had persistent simple partial seizures with occasional secondary generalization. Routine hematological and biochemical examinations were normal. The cerebrospinal fluid was colorless, clear and under normal pressure. The protein, glucose and blood cell counts were normal, and protein 14-3-3 was positive. Brain magnetic resonance imaging (MRI) showed several small hyperintense lesions in both white and gray matter on T2-weighted sequences. An EEG showed lateralized right-sided periodic (1 Hz) epileptiform activity in addition to generalized background slowing. DNA analysis revealed a codon E200K mutation in the PRNP gene11 . He developed generalized myoclonic jerks, and the EEG demonstrated
bilateral periodic activity (Fig. 1). He died 1 month after admission. The autopsy confirmed the clinical and EEG impression of spongiform encephalopathy characteristic of CJD.
DISCUSSION Myoclonic jerks are one of the most common symptoms in patients with CJD. While focal and generalized seizures may occur in the course of CJD, they are not frequent events. Epilepsia partialis continua as the first symptom of CJD was described in a few reports9, 10 . Rees et al.8 described two cases presenting as complex partial status epilepticus. Among 21 patients with CJD reported by Cokgor et al.6 , 5 had focal motor seizures with or without secondary generalization, and one had generalized status epilepticus. Our patient was hospitalized following the development of generalized status epilepticus that was secondarily generalized. There was no history of previous seizures. He continued to have focal motor seizures with secondary generalization
Generalized convulsive status epilepticus in CJD
in spite of aggressive medical treatment. Generalized status epilepticus is not uncommon in acute neurological conditions such as intoxication, head trauma, central nervous system infection, cerebral infarct and degenerative diseases. We propose that CJD should be added to the list as one of the rare but possible causes of generalized status epilepticus.
REFERENCES 1. Korczyn, A. D. Prion diseases. Current Opinions in Neurology 1997; 10: 273–281. 2. Yamanouchi, H., Budka, H. and Vass, K. Sr. Unilateral Creutzfeldt–Jakob disease. Neurology 1986; 11: 1517–1520. 3. Levy, S. R., Chiappa, K. H., Burke, C. J. and Young, R. R. Early evolution and incidence of EEG abnormalities in CJD. Journal of Clinical Neurophysiology 1986; 3: l– 24. 4. Au, W. J., Gabor, A. J., Vijayan, N. and Markand, O. N. Periodic lateralized complexes in Creutzfeldt–Jakob disease. Neurology 1980; 30: 61l–617.
405 5. Roos, R., Gajdusek, D. C. and Gibbs, C. J. The clinical characteristics of transmissible Creutzfeldt–Jakob disease. Brain 1973; 96: l–20. 6. Cokgor, I., Rozear, M. and Morgenlander, J. C. Seizures and Creutzfeldt–Jakob disease. A case report and series review. North Carolina Medical Journal 1999; 2: 108–109. 7. Aronyk, K., Petito, F. and Solomon, G. E. Partial elementary motor seizures as the first symptom of Creutzfeldt–Jakob disease. Annals of Neurology 1984; 15: 210–211. 8. Rees, J. H., Smith, S. J., Kullmamr, D. M., Hirsch, N. P. and Howard, R. S. Creutzfeldt–Jakob disease presenting as complex partial status epilepticus: a report of two cases. Journal of Neurology, Neurosurgery and Psychiatry 1999; 66: 406–407. 9. Lee, K., Haight, E. and Olejniczak, P. Epilepsia partialis continua in Creutzfeldt–Jakob disease. Acta Neurologica Scandinavica 2000; 102: 398–402. 10. Parry, J., Tuch, P., Knezevic, W. and Fabian, V. Creutzfeldt– Jakob syndrome presenting as epilepsia partialis continua. Journal of Clinical Neuroscience 2001; 3: 266–268. 11. Goldfarb, L. G., Korczyn, A. D., Brown, P., Chapman, J. and Gajdusek, D. C. Mutation in codon 200 of scrapie amyloid precursor gene linked to Creutzfeldt–Jakob disease in Sephardic Jews of Libyan and non-Libyan origin. Lancet 1990; 336: 637–638.