[Progressive myoclonic cerebellar ataxia as a manifestation of Creutzfeldt-Jakob disease]. / Ataxia cerebelosa mioclónica progresiva como manifestación de la enfermedad de Creutzfeldt-Jakob.

INTRODUCTION: Progressive myoclonic cerebellar ataxia is a clinical entity with an important spectrum of possible diagnoses that requires a complex and exhaustive differential diagnosis. CASE REPORT: A 53-year-old male patient with no relevant medical history who was admitted to hospital because of an unstable gait, together with mild bilateral dysymmetry and the progressive and insidious widening of the base of support. The patient's symptoms then became more pronounced and included myoclonus and a deterioration of the higher functions. The patient died four months after the onset of the symptoms. The explorations that were conducted included a pathological study of the brain, which confirmed the diagnosis of classical spongiform encephalopathy (Creutzfeldt-Jakob disease). CONCLUSIONS: Creutzfeldt-Jakob disease must be included in the differential diagnosis of progressive cerebellar ataxias.

Ataxia cerebelosa mioclónica progresiva como manifestación de la enfermedad de Creutzfeldt-Jakob / Progressive myoclonic cerebellar ataxia as a manifestation of Creutzfeldt-Jakob disease

Introducción. La ataxia cerebelosa mioclónica progresiva es una entidad clínica con un importante espectro de posibilidades diagnósticas que obligan a un diagnóstico diferencial complejo y exhaustivo. Caso clínico. Paciente varón de 53 años de edad, sin antecedentes de interés, que ingresa por presentar inestabilidad en la marcha, con una leve dismetría bilateral y ampliación de la base de sustentación de instauración insidiosa y progresiva. Posteriormente, la sintomatología del paciente se acentuó y se asoció a mioclonías y a un deterioro de las funciones superiores. Cuatro meses después del inicio de los síntomas, el paciente falleció. Las exploraciones que se realizaron incluyeron el estudio anatomopatológico cerebeloso, que confirmó el diagnóstico de encefalopatía espongiforme (enfermedad de Creutzfeldt-Jakob) en su forma clásica. Conclusión. La enfermedad de Creutzfeldt-Jakob debe incluirse en el diagnóstico diferencial de las ataxias cerebelosas progresivas (AU)

Introduction. Progressive myoclonic cerebellar ataxia is a clinical entity with an important spectrum of possible diagnoses that requires a complex and exhaustive differential diagnosis. Case report. A 53-year-old male patient with no relevant medical history who was admitted to hospital because of an unstable gait, together with mild bilateral dysmetry and the progressive and insidious widening of the base of support. The patient’s symptoms then became more pronounced and included myoclonus and a deterioration of the higher functions. The patient died four months after the onset of the symptoms. The explorations that were conducted included a pathological study of the brain, which confirmed the diagnosis of classical spongiform encephalopathy (Creutzfeldt-Jakob disease). Conclusions. Creutzfeldt-Jakob disease must be included in the differential diagnosis of progressive cerebellar ataxias (AU)