Copyright (c) 2025 Revista médico científica
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
INTRODUCTION: Huntington’s disease is an autosomal dominant neurodegenerative disorder caused by an expansion of the CAG trinucleotide in the HTT gene. It is characterized by motor, cognitive, and psychiatric alterations, leading to progressive decline.
CASE PRESENTATION: A 64-year-old male with a history of chronic alcoholism presented with involuntary limb movements, gait instability, and progressive cognitive impairment. Initial workup ruled out malignancy and alcoholic encephalopathy as possible diagnoses. Brain Magnetic Resonance Imaging revealed caudate nucleus atrophy and ventriculomegaly. Genetic testing confirmed the CAG trinucleotide expansion in the HTT gene.
DISCUSSION: This case highlights the diagnostic complexity of Huntington´s Disease, particularly in the absence of a clear family history. The clinical presentation was initially suspected to be due to malignancy and alcoholic encephalopathy. However, the progression of motor and cognitive symptoms led to the suspicion of Huntington’s Disease, which was confirmed through genetic and imaging studies. Huntington's disease remains a diagnostic challenge, requiring a multidisciplinary approach for optimal care throughout its progressive course.
