Retraso en el diagnóstico de un cuadro grave de enfermedad de Huntington juvenil: caso clínico

Huntington's disease is a neurodegenerative disease that is clinically manifested as mood and personality changes, loss of cognitive functions and choreiform movements. The pattern of inheritance is autosomic dominant. It is due to the gradual expansion of a cytosine, adenine, guanine trinucleotide in a gene that codifies the protein Huntington. The molecular diagnosis must be performed to confirm the diagnosis. Genetic counseling must be carefully done due to the high suicide risk among these patients. We present the case of a fourteen-year-old male with a severe disease, poor social support and an unclear pattern of inheritance.

• Autores: Escobar, Luis Enrique Meza; Orozco, Jorge Luis; Ariza Araujo, Yoseth Jesualdo; Pachajoa Londoño, Harry Mauricio; Takeuchi Tan, Yuri
• Tipo de recurso: Informe
• Fecha de publicación: 2014
• Institución: Universidad ICESI
• Repositorio: Repositorio ICESI
• Idioma: spa
• OAI Identifier: oai:repository.icesi.edu.co:10906/78484
• Acceso en línea: http://www.scopus.com/inward/record.url?eid=2-s2.0-84905963509&partnerID=tZOtx3y1; http://hdl.handle.net/10906/78484; http://dx.doi.org/10.5546/aap.2014.e23
• Palabra clave: Enfermedad de Huntington; Enfermedades hereditarias; Enfermedades neurodegenerativas; Ciencias socio biomédicas; Medical sciences
• Rights: openAccess
• License: http://purl.org/coar/access_right/c_abf2