Melissa Luque-Llano

Introduction: Stiff-Person Syndrome (SPS) is a rare autoimmune neurological disorder characterized by progressive muscle rigidity and painful spasms, primarily affecting axial and proximal musculature. Its diagnosis can be challenging due to clinical overlap with other neurological conditions such as spasticity, dystonia, or functional movement disorders. The detection of antibodies against glutamic acid decarboxylase (anti-GAD) is a key biomarker that supports diagnosis. Methods: Two clinical cases of patients with manifestations consistent with classic SPS are described, and were evaluated in a specialized neurology service. Both patients underwent detailed clinical assessment, complementary studies, and serum testing for anti-GAD antibodies. Results: Both patients presented with progressive rigidity and fluctuating muscle spasms, predominantly involving axial musculature. After an extensive diagnostic workup, elevated anti-GAD antibody titers were documented in both cases, confirming the diagnosis of classic SPS. Treatment with medications enhancing GABAergic neurotransmission was associated with significant clinical improvement, evidenced by reduced rigidity and the decreased frequency of spasms. Conclusions: These cases highlight the importance of considering SPS in the differential diagnosis of progressive rigidity syndromes. Identification of anti-GAD antibodies is essential for diagnostic confirmation, and treatment that aims to enhance GABAergic neurotransmission can significantly improve symptoms and patient functionality.

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare neurological disorder within the spectrum of stiff-person syndrome (SPS) and epi

Background: Extracranial vertebral artery aneurysms (EVAAs) are exceptionally rare vascular lesions and an uncommon cause of posterior circulation stroke. Their diagnosis is often delayed due to nonspecific symptoms, yet prompt recognition is essential to guide management. Objective: This study aimed to report a rare case of an extracranial vertebral artery dissecting aneurysm presenting as a posterior circulation stroke in a young adult, successfully managed with flow-diverter stenting. Clinical Case: A 33-year-old woman presented with sudden-onset dysarthria, vertigo, nausea, and vomiting. Brain magnetic resonance imaging revealed infarcts in the left occipital lobe, cerebellar peduncle, and both cerebellar hemispheres. Computed tomography angiography (CTA) demonstrated a fusiform aneurysm in the V2 segment of the left vertebral artery, and digital subtraction angiography (DSA) confirmed a dissecting aneurysm. The patient was successfully treated with a flow-diverting stent and remained stable at 6 months’ follow-up with mRS 1. Results: EVAA are uncommon but can manifest as posterior circulation ischemic events in young patients. Endovascular treatment with flow-diverting stents has been reported as a feasible option in selected cases, although evidence remains limited to case reports and small series. Conclusions: This case underscores the importance of considering rare yet potentially treatable etiologies of vertebrobasilar stroke in young patients and highlights the value of a multidisciplinary approach to management.