Abstract Background and aims Capsular warning syndrome (CWS) is characterized by recurrent stereotyped episodes of transient motor and/or sensory deficits, typically related to small perforating vessel disease. Cortical symptoms, such as aphasia, are traditionally considered to be exclusionary. We present a case of CWS with recurrent aphasia, highlighting the role of cortico-subcortical network disruption in small, deep infarcts. Methods We report the case of a 57-year-old woman, a smoker without other vascular risk factors, who presented with sudden-onset episodes of right-sided weakness associated with impaired language production, each lasting approximately 20 min. Five stereotyped, self-limited episodes occurred over a short period, consistently in the context of elevated blood pressure values. Results Given the suspected vascular etiology, a stroke code was activated for the patient. Multimodal CT revealed no acute ischemic lesions, large vessel occlusions, or perfusion abnormalities. Subsequent brain MRI revealed a focal area of diffusion restriction with corresponding ADC hypointensity and no FLAIR changes, consistent with acute ischemia involving the left caudate nucleus with extension to the ipsilateral corona radiata without cortical involvement. Conclusions This case supports the notion that capsular warning syndrome may present with symptoms traditionally considered cortical, such as aphasia. Subcortical ischemic lesions can disrupt cortico-subcortical language networks, leading to clinically significant impairments. Conflict of interest Irene Díaz-Díaz: nothing to disclose Figure 1 - belongs to Results
Abstract Background and aims Sickle cell disease is associated with a high risk of cerebrovascular events, especially ischemic lesions. From an epidemiological point of view, the prevalence of silent cerebral infarcts is high, reaching approximately 39% at age 18 in patients with more aggressive phenotypes.Transcranial Doppler (TCD) neurosonology is the standard technique for the early detection of arterial stenosis and identification of children at high risk of stroke. Methods We present the case of two patients, aged 6 and 9 years, from Equatorial Guinea, who were previously diagnosed with sickle cell anemia and without known brain lesions. They were referred to our service for neurosonological evaluation using (TCD). Results In the younger patient, the initial study showed increased systolic velocities (SV) in both middle cerebral arteries (MCAs), with asymmetry. In the left MCA, the SV reached 193 cm/s, whereas in the right MCA, it reached 137 cm/s. Based on these findings, a follow-up assessment was performed 15 days later. The SV was 203 cm/s in the left MCA territory and 181 cm/s in the right MCA territory, prompting the initiation of treatment with red blood cell transfusions. The initial assessment of the second patient revealed elevated SV in both MCAs (160 and 175 cm/s, respectively). She was monitored every 15 days, and at the last follow-up, the SV values were 150 and 165 cm/s, respectively. Conclusions TCD is a safe and effective diagnostic method for the early identification of patients at high risk of cerebrovascular events, especially in pediatric patients. Conflict of interest Irene Díaz-Díaz: nothing to disclose Figure 1 - belongs to Results
GLI1-altered mesenchymal tumors represent a recently defined group of neoplasms molecularly characterized by GLI1 gene fusions or amplifications. Although initially thought to share similar molecular alterations, including pericytoma with ACTB::GLI1 fusion, plexiform fibromyxoma, and gastroblastoma, these tumors are now recognized as distinct entities with specific clinicopathological features. Histologically, GLI1-altered mesenchymal tumors typically exhibit a multinodular growth pattern composed of relatively uniform epithelioid-to-ovoid cells arranged in nested formations. These nests are supported by a delicate arborizing capillary network and are often embedded in a myxoid stroma. Immunohistochemically, variable positivity for CD56, S100, CD10, smooth muscle actin, cyclin D1, and p16 has been reported. GLI1 immunohistochemistry is both highly sensitive and specific, serving as a valuable diagnostic marker in the appropriate context. Some GLI1-amplified tumors may show co-amplification of neighboring genes, including STAT6, MDM2, CDK4, and DDIT3, which can result in variable immunoreactivity depending on amplicon size. These tumors can arise at a broad range of anatomical sites and occur across all age groups. Although GLI1-altered mesenchymal neoplasms were initially considered indolent, malignant cases with metastatic potential have been reported. Necrosis, high mitotic index, and large tumor size are associated with an increased risk of metastasis. Tumors with GLI1 amplification generally demonstrate worse clinical outcomes than those driven by GLI1 fusions. Definitive diagnosis requires molecular confirmation via next-generation sequencing and/or fluorescence in situ hybridization. Accurate recognition of GLI1-altered mesenchymal tumors has important diagnostic, prognostic, and therapeutic implications. Herein, we describe the clinicopathologic features of GLI1-altered neoplasms, including their molecular findings and the differential diagnosis with other tumors exhibiting overlapping morphology and immunoprofile.
