RESUMEN
A 74-year old woman presented with partial and secondarily generalized status epilepticus lasted for 11 days. Initially her seizures consisted of only unformed visual hallucination, which progressed to formed hallucinations, and then memory disturbance and GTCs. During the period of recurrent formed visual hallucinations, T2-weighted brain MRI revealed high signal intensities in the left occipital lobe. After intravenous phenytoin loading, she did not develop any further GTCs but visual hallucinations persisted. Follow-up MRI performed after complete recovery of seizures showed complete recovery of the previous focal lesions, however, 1H-MRS showed a significant decrease of NAA in the recovered area. These features suggested the neuronal loss in the area of seizure focus, despite the complete recovery of transient focal abnormalities in MRI. This case provides a supportive evidence of neuronal damage even in focal status epilepticus, which stress the importance of early treatment and EEG confirmation of the complete seizure control after the disappearance of clinically obvious seizures.
Asunto(s)
Anciano , Femenino , Humanos , Encéfalo , Electroencefalografía , Estudios de Seguimiento , Alucinaciones , Imagen por Resonancia Magnética , Memoria , Neuronas , Lóbulo Occipital , Fenitoína , Convulsiones , Estado EpilépticoRESUMEN
BACKGROUND: Recent developments of molecular biological techniques have enabled the identification of genetic abnormalities responsible for the development of familial Parkinson's disease (PD). The alpha-synuclein, a major component of Lewy body in Parkinson's disease and of non-beta-amyloid components of amyloid plaques in Alzheimer's disease, has been identified as one of the factors associated with neurodegenerative diseases. Ala53Thr (G209A) mutation in alpha-synuclein was found in one Italian-American (Contursi) and five unrelated Greek familial PD with autosomal dominant inheritance. Efforts to find the same mutation in many other familial and sporadic PD patients were negative. However, another mutation (Ala30Pro(G88C)) of alpha-synuclein was found in one German person kindred. METHODS: We performed a genetic analysis to search for these two mutations in four unrelated Korean families with PD and 44 sporadic PD and 30 sporadic multisystem atrophy(MSA) patients. RESULTS: We did not find any mutations in the index patients of four families or in sporadic PD and MSA patients. CONCLUSIONS: These findings suggest the possibility that the two identified point mutations do not cause Korean sporadic and familial PD or sporadic MSA. Further evaluation including whole exons associated with the alpha-synuclein gene is needed.
Asunto(s)
Humanos , alfa-Sinucleína , Enfermedad de Alzheimer , Exones , Cuerpos de Lewy , Enfermedades Neurodegenerativas , Enfermedad de Parkinson , Placa Amiloide , Mutación Puntual , TestamentosRESUMEN
C-reactive protein(CRP) of the serurn and CSF vras quantitatively measured in patients who were diagnosed as tuberculous meningitis(19 cases), aseptic meningitis(44 cases) and control group(23 cases) in order to evaluate the diagnostic value and the possible dynarnics of CRP between serum and CSF. Following results were obtained. 1. Significant difference(p<0.005) OF CRP was observed in the initial CSF of the patients with tuberculous meningitis and aseptic meningitis. When the CRP of CSF was set above 0.4rng /dl, a sensitivity of 0 79 apd a specificity of 0.90 were obtained. 2. When the CRP in the initial serurn as compared, significant difference(p<0.0210) was also observed between the patients with tuberculous rneningitis and aseptic meningitis. However, serurn CRP were not diagnostic because of significant overlap between the tuberculous and the aseptic meningitis. 3. On follow up measurement of CRP, patients with tuberculous meningitis showed signihcant decrease in both serurn and CSF while patients with aseptic meningitis showed significant decrease only in the serum. 4. In both groups of patients with tuberculous meningitis and aseptic meningitis, CRP values in the CSF were closely correlated to those of the serum(Pearson's r=0.25326 p<0. 035, Pearson's r=0.4520 p<0.0000 respectively) Considering that the content of protein was also significantly(p<0.000) elevated in the patients with tuberculous meningitis and that the CRP ratio(Qcrp) was also significantly(p<0.0035) elevated in comparison to the controls, the increased CRP in the CSF of tuberculous meningitis is probably due to an increased simple diffusion through the blood-CSF barrier resulted from increased serurn CRP and through impairrnent of blood-CSF barrier.
Asunto(s)
Humanos , Difusión , Estudios de Seguimiento , Meningitis Aséptica , Sensibilidad y Especificidad , Tuberculosis MeníngeaRESUMEN
A 27-year-old female patient with peripheral neuropathy and posterior column dysfunction showed severe folate deficiency in contrast to normal vitamin B12 level. Clinical manifestations improved and serum folate level rised with folate therapy. A brief review of literature was made.