Paraparesia espástica hereditaria: reporte de caso

Abstract

Introduction: Hereditary spastic paraparesis is a rare neurodegenerative disease affecting the corticospinal tracts, with significant clinical variability. Its diagnosis is complex due to the lack of epidemiological data, especially in Latin America, and the difficulty in differentiating it from similar conditions. This case contributes to the clinical diagnosis and management of the disease in contexts with limited access to genetic testing.

Case presentation: A 23-year-old female patient presents with severe pain (8/10 on the visual analog scale), stiffness in the lower limbs, hyperreflexia, clonus, and positive Babinski’s sign. Her family history includes a second- degree consanguinity relationship. The symptoms persisted for several years without a precise diagnosis. Finally, a clinical diagnosis of hereditary spastic paraparesis was established. Various pharmacological therapies were evaluated, but the patient experienced adverse effects with botulinum toxin and baclofen; however, with intensive physiotherapy, she showed significant progress, resulting in a notable improvement in her mobility and quality of life.

Conclusion: This case highlights the importance of early clinical diagnosis supported by imaging studies to rule out other pathologies. Additionally, it underscores the country’s limited access to genetic testing in the country due to its high cost. Finally, it emphasizes the need for a personalized therapeutic approach, as pharmacological therapies are not effective for all patients, highlighting physiotherapy as key in managing the symptoms of this disease.