Publicación Oficial de la Sociedad Ecuatoriana de Neurología, de la Liga Ecuatoriana Contra la Epilepsia y de la Sociedad Iberoamericana de Enfermedad Cerebrovascular

Variante de Heidenhain

 

Enfermedad de Creutzfeldt Jakob Esporádico: Presentación del Primer Caso Clínico – Patológico en Ecuador.

Introduction: Sporadic Creutzfeldt-Jakob disease (sCJD) has not yet been described in Ecuador.

Methods: We present a 53-year-old patient who came to the Neurology Department of the Eugenio Espejo Hospital because of clinical symptoms and EEG and MRI tests that met the criteria for a diagnosis of CJD, which was later confirmed by neuropathological findings.

Results: That patient was admitted to the hospital because of visual impairments and ataxia. During his stay in the hospital, in addition to blindness, myoclonus and bilateral cortico-spinal signs, the patient’s cognitive functions declined rapidly and progressively. The clinical symptoms, the EEG and MRI were highly suggestive of CJD. The neuropathological findings confirmed this diagnosis.

Conclusion: We report the first case in Ecuador, with neuropathological confirmation, of a patient diagnosed with the Heidenhain variant of sCJD.

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Enfermedad de Creutzfeldt-Jakob. Presentación de un Caso Clínico y Revisión de la Literatura.

Creutzfeldt-Jakob disease is the prototypic rapidly progressive dementia. Esporadic CJD is the most common presentation. We report a 65 year-old patient with primary visual complaints, afterward psychosis with memory and higher cerebral functions complaints. After 4 months of evolution, the patient showed akinetic mutism and myoclonus. In the MRI, anormal hyperintensity was seen on T2 sequences in the subcortical and cortical regions of the occipital lobes. EEG revealed periodic generalized triphasic waves. We present this patient with the Heindenhain variant of sporadic CJD, in order to consider it when were are faced with a patient with rapidly progressive dementia (RPD). We emphasize the importance of early diagnosis for prognostic value and for minimize the risk of accidental iatrogenic transmission.

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