title: [Delayed diagnosis of juvenile Huntington's diseases: case report].
abstract: 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.
authors.affiliation: Centro de Investigación en Anomalías Congénitas y Enfermedades Raras, Universidad Icesi, Cali, Colombia.
authors.forename: Luis Enrique
authors.initials: LE
authors.lastname: Meza Escobar
authors.affiliation: Departamento de Medicina Interna, Servicio de Neurología, Fundación Clínica del Lili, Cali, Colombia.
authors.forename: Jorge Luis
authors.initials: JL
authors.lastname: Orozco
authors.affiliation: Centro de Investigación en Anomalías Congénitas y Enfermedades Raras, Universidad Icesi, Cali, Colombia.
authors.forename: Yuri
authors.initials: Y
authors.lastname: Takeuchi
authors.affiliation: Centro de Investigación en Anomalías Congénitas y Enfermedades Raras, Universidad Icesi, Cali, Colombia.
authors.forename: Yoseth
authors.initials: Y
authors.lastname: Ariza
authors.affiliation: Centro de Investigación en Anomalías Congénitas y Enfermedades Raras, Universidad Icesi, Cali, Colombia.
authors.forename: Harry
authors.initials: H
authors.lastname: Pachajoa
mesh_terms: D000293:Adolescent; D057210:Delayed Diagnosis; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010375:Pedigree