RESUMEN
Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by alpha-galactosidase A deficiency, resulting in globotriaosylceramide accumulation and diverse clinical manifestations. We report a case of a 22-year-old male presenting with cochleovestibular disorders as the initial FD manifestation, alongside a literature review. Diagnostic evaluation revealed reduced alpha-galactosidase A activity, confirming FD. Cochleovestibular involvement, although underexplored, significantly affects FD patients, often presenting with sudden deafness or sensorineural hearing loss. Prompt diagnosis and enzyme replacement therapy are crucial for managing FD. Otolaryngologists play a key role in early detection and intervention. This case underscores the importance of considering FD in cases of hearing loss, tinnitus, or vertigo, emphasizing the need for heightened awareness among healthcare providers.
RESUMEN
The emergence of parkinsonism in a patient with an intracranial meningioma is indeed an uncommon occurrence. Here, we detail the case of a patient experiencing parkinsonian syndrome for four years without any observable clinical improvement following medical treatment. A magnetic resonance imaging (MRI) of the brain revealed a left intracranial meningioma. The successful complete surgical removal of the tumor led to the resolution of parkinsonian syndrome. The extent of the neoplasm and the surrounding peritumoral edema could potentially exert significant pressure, thereby compromising perfusion in the basal ganglia region. This clinical case serves as an exemplar, emphasizing the criticality of identifying specific red flags that necessitate further clinical investigations in the context of parkinsonian syndrome.