Asociación parkinson-demencia y esclerosis lateral amiotrofica (complejo-guam). Reto diagnostico, paciente mexicano.
Keywords:
parkinsonism, dementia, Amyotrophic Lateral Sclerosis, neurodegenerative diseasesAbstract
Resumen
Introducción: El complejo parkinsonismo-demencia-esclerosis lateral amiotrófica fue descrito por primera vez en las islas de Guam. Esta patología presento su pico de incidencia en los años 50. Debido a la rareza de la asociación informamos sobre un caso clínico con esta asociación.
Objetivo: Describir las implicaciones nosológicas y patogénicas de este trastorno neurodegenerativo, ya que no es frecuente encontrar esta asociación en nuestra población.
Caso Clínico: Presentamos un caso de origen latino. Inicialmente manifestado por síntomas sistémicos de más de 6 años de evolución, con posteriores alteraciones cognitivas. Posteriormente comenzó con alteraciones de la marcha y síntomas motores sugestivos de parkinsonismo con datos atípicos y datos de enfermedad de motoneurona. Se realizan estudios de extensión confirmando hallazgos compatibles con afectación en motoneurona superior e inferior. Se objetiva mutación en gen POLG, relacionado con síndrome de depleción mitocondrial.
Conclusión: A pesar del conocimiento de esta asociación, es una entidad que puede ser muy difícil lograr el diagnóstico clínico. Además no se ha identificado del todo los mecanismos moleculares, se han excluido los genes más comunes relacionados con parkinsonismos, y esclerosis lateral amiotrófica e incluso se intentó localizar el locus, sin lograr resultados certeros. Desafortunadamente al ser una enfermedad neurodegenerativa el pronóstico es fatal, sin existir tratamiento modificador de la enfermedad.
Palabras clave: parkinsonismo; demencia; esclerosis lateral amiotrófica; enfermedades neurodegenerativas
Abstract
Background: The parkinsonism-dementia-amyotrophic lateral sclerosis complex was first described in the islands of Guam. This pathology presented its peak incidence in the 1950s. Due to the rarity of the association, we report on a clinical case with this association.
Objective: describe the nosological and pathogenic implications of these neurodegenerative disorder, since they are not frequent to find this association in our population.
Clinical Case: We present a case of Latin origin. Initially manifested by systemic symptoms of more than 6 years of evolution, with subsequent cognitive alterations. Subsequently, he began with gait disturbances and motor symptoms suggestive of parkinsonism with atypical data and data of motor neuron disease. Extension studies are carried out confirming findings compatible with upper and lower motor neuron involvement. A mutation in the POLG gene was observed, related to mitochondrial depletion syndrome.
Conclusion: Despite the knowledge of this association, it is an entity that can be very difficult to achieve a clinical diagnosis. In addition, the molecular mechanisms have not been fully identified, the most common genes related to parkinsonism and amyotrophic lateral sclerosis have been excluded, and even attempts were made to locate the locus, without achieving accurate results. Unfortunately, being a neurodegenerative disease, the prognosis is fatal, with no disease-modifying treatment.
Keywords: parkinsonism; dementia; Amyotrophic Lateral Sclerosis; neurodegenerative diseases.
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References
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