Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease.

BACKGROUND AND PROPOSE: Familial Creutzfeldt-Jakob disease (fCJD) in Jews of Libyan ancestry is caused by an E200K mutation in the PRNP gene. The typical presenting symptoms include cognitive decline, behavioral changes and gait disturbances; however, some patients may have an unusual presentation such as a stroke-like presentation, alien hand syndrome or visual disturbances. The aim of this paper is to describe uncommon presentations in our series of consecutive patients with E200K fCJD. METHODS: The study group included consecutive fCJD patients followed up as part of a longitudinal prospective study ongoing since 2003 or hospitalized since 2005. The clinical diagnosis of probable CJD was based on accepted diagnostic criteria and supported by typical magnetic resonance imaging, electroencephalographic findings, elevated cerebrospinal fluid tau protein levels and by genetic testing for the E200K mutation. Disease symptoms and signs were retrieved from the medical files. RESULTS: The study population included 77 patients (42 men) with a mean age of disease onset of 60.6 ± 7.2 years. The most prevalent presenting symptoms were cognitive decline followed by gait impairment and behavioral changes. However, six patients had an unusual presentation including auditory agnosia, monoparesis, stroke-like presentation, facial nerve palsy, pseudobulbar syndrome and alien hand syndrome. CONCLUSIONS: Our case series illustrates the wide phenotypic variability of the clinical presentation of patients with fCJD and widens the clinical spectrum of the disease. A high level of clinical suspicion may prove useful in obtaining early diagnosis and therefore avoiding costly and inefficient diagnostic and therapeutic strategies.

Long-term follow-up of patients with asymptomatic occlusion of the internal carotid artery with good and impaired cerebral vasomotor reactivity.

BACKGROUND: Cerebral hemodynamic status might be prognostic for either the symptomatic or asymptomatic course of carotid occlusive disease. It is determined by evaluating cerebral vasomotor reactivity (VMR). We assessed VMR in asymptomatic patients with total occlusion of the internal carotid artery (ICA) and followed them to evaluate the role of impaired VMR in predicting ischaemic stroke (IS). METHODS: Thirty-five patients (21 men, mean age ± SD 68 ± 7.5 years) with unilateral asymptomatic ICA occlusion were studied by transcranial Doppler and the Diamox test (intravenous 1.0 g acetazolamide) and followed for 48 months or until reaching the end-points of IS, transient ischaemic attack, or vascular death. VMR% was evaluated by recording the percent differences in peak systolic blood flow velocities in each middle cerebral artery at baseline and after Diamox administration. RESULTS: Based on VMR% calculations, 14 (40%) patients had good VMRs and 21 (60%) had impaired VMRs. The global annual risk of ipsilateral ischaemic events was 5.7%. The annual ipsilateral ischaemic event risk was 1.8% in patients with good VMRs, whilst it was 7.1% in patients with impaired VMRs. An impaired VMR was significantly correlated with ipsilateral IS (Kaplan-Meier log rank statistic, P = 0.04). CONCLUSIONS: Our results support the value of VMR assessment for identifying asymptomatic patients with carotid occlusion who belong to a high-risk subgroup for IS. New trials using extracranial-to-intracranial bypass surgery in patients with asymptomatic ICA occlusion and impaired VMRs are warranted.

Electroencephalography findings in adult patients with West Nile virus-associated meningitis and meningoencephalitis.

Eighteen adult patients with serologically confirmed West Nile virus (WNV)-associated meningitis or meningoencephalitis were admitted to our hospital during the 2000 West Nile fever outbreak in Israel. Thirteen of the patients had a more severe and prolonged clinical course, and an electroencephalogram (EEG) was, therefore, requested. A specific EEG pattern was seen in 8 patients, consisting of generalized slowing, which was more prominent over the anterior regions. Generalized slowing that was prominent over the temporal area was seen in 2 patients, and intermittent slowing over the temporal region was seen in 1 patient. Two patients had normal EEG findings. We suggest that WNV meningoencephalitis should be considered in the differential diagnosis of meningitis or meningoencephalitis with a prolonged clinical course and anteriorly predominant slowing on an EEG.

Neurological features of West Nile virus infection during the 2000 outbreak in a regional hospital in Israel.

During the summer of 2000, 35 patients with West Nile Virus Fever were admitted to our hospital. Of these, the 26 (21 adults, mean age 56 (19-86) and 5 children (aged 9-15)) presented have neurological involvement, 33% with meningitis, 52% with meningoencephalitis, 10% with encephalitis and 5% with acute polyneuropathy. Presenting clinical features were fever in 95% of cases, headache in 90%, nausea/vomiting in 52%, confusion in 48%, somnolence in 38%, neck stiffness in 33%, a skin rash in 19%, diarrhea in 14%, cervical pain in 14%, seizure in 9%, photophobia in 9% and limb weakness in 4%. Leucopenia was not found. Two patients diagnosed with meningoencephalitis died. Three patients had signs of an acute polyneuropathy, this being the only complaint of one patient. The EEG was abnormal in all cases of meningitis or meningoencephalitis, except in three cases. Outbreaks of West Nile Virus Fever are emerging as a worldwide disease with high rates of neurological involvement and death. It should be considered in cases presenting with aseptic meningoencephalitis, meningitis and acute polyneuropathy, especially during the summer months and in areas along bird migration pathways.