Introduction: Foix-Chavany-Marie syndrome (FCMS) is a type of pseudobulbar palsy that affects facio-pharyngo-glosso-masticatory muscles. Materials and Methods: A 62-year-old man was admitted to the emergency department after 9 hours of acute dysarthria and dysphagia. MRI showed restricted diffusion in the right operculum on diffusion-weighted imaging (DWI). No thrombolytic therapy was given. The patient had a history of mechanical aortic valve replacement under anticoagulation with a vitamin K antagonist. Work-up demonstrated suboptimal levels of INR. Due to severe dysphagia during hospitalization, a percutaneous endoscopic gastrostomy (PEG) was performed. Results: The patient was discharged 5 days later, with a modified Rankin scale (mRs) score of 3, and secondary stroke prevention. He had achieved an excellent functional outcome (mRs 1) at 6-month follow-up. Conclusion: Our patient had a satisfactory recovery due to prompt diagnosis, secondary stroke prevention, and compliance with treatment.

Background: Stroke is a leading cause of death and disability worldwide, particularly in low- and middle-income countries. We aimed to identify the main barriers to optimal acute management of stroke in a referral center.Methods: Demographic data was collected from patients assessed with acute stroke in the emergency department of the Instituto Nacional de Neurología y Neurocirugía (INNN) from January to June 2019. Additionally, a telephone interview was conducted with patients/primary caregiver to know which they considered the main reason for the delay in arrival at INNN since the onset of stroke.Results: 116 patients were assessed [age 65 ± 15 years, 67 (57.8%) men]. Patients consulted other facilities prior to arrival at INNN in 59 (50.9%) cases (range of hospitals visited 1–4), 83 (71.6%) arrived in a private car, with prenotification in only 4 (3.4%) of the total sample. The mean onset-to-door time was 17 h (45 min−10 days). Telephone interviews were done in 61 patients/primary caregivers, stating that they consider the multiple evaluations in other facilities [n = 26/61 (42.6%)] as the main reason for delay in arrival at the ED, followed by ignorance of stroke symptoms and treatment urgency [n = 21/61 (34.4%)].Conclusion: In this small, retrospective, single center study, the main prehospital barrier to optimal acute management of stroke in a developing country is multiple medical evaluations prior to the patient's transport to a specialized stroke hospital, who mostly arrived in a private car and without prenotification. These barriers can be overcome by strengthening public education and improving patient transfer networks and telemedicine.

La enfermedad de Fabry (EF) es una patología genética ligada al cromosoma X (manifestada predominantemente en hombres y mujeres portadoras), causada por el déficit de la enzima alfa α-galactosidasa A (también llamada ceramida trihexosidasa) que cataliza la escisión hidrolítica de la molécula terminal de galactosa de Gb3 (globotriaosilceramida). La EF se manifiesta fenotípicamente como metabolismo inadecuado de glucoesfingolípidos, afectando membranas celulares con traducción clínica multisistémica. Además de la enfermedad vascular cerebral (EVC) que afecta principalmente a pacientes jóvenes, otras complicaciones frecuentes son las renales, cardíacas y dermatológicas. Debido a su baja prevalencia, curso crónico e inespecífico, con manifestaciones en la vida adulta joven, es difícil sospecharla. Su confirmación diagnóstica requiere medición de la actividad de la enzima α-galactosidasa A, acumulación de globotriaosilceramida (Gb3), y/o determinación genética por mutación del gen GLA (gen para la galactosidasa Xq22.1). Al momento, no hay tratamiento específico para la EF, sólo tratamiento sintomático y para las secuelas que genera a nivel sistémico. El objetivo de esta revisión es brindar al clínico una perspectiva general de los aspectos epidemiológicos, fisiopatológicos y clínicos de la EF, con especial interés en su expresión como EVC, con la finalidad de sospecharla como diagnóstico diferencial en el momento de afrontarla.

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