Facial pain associated with vein of Trolard thrombosis Case report Neurology.

Cerebral venous thrombosis is a rare condition, with identified and described risk factors mainly associated with prothrombotic states, with a wide variety of symptomatology based on the site affected, the most common being intracranial hypertensive syndrome, focal or encephalopathy. Cortical veins of the superficial system are among the least frequently affected veins. The following describes a case of painful facial symptoms progressing to a focal syndrome associated with a history of chronic oral contraceptive use, with thrombosis of vein of Trolard detected and successfully treated with oral anticoagulants.

Optic neuromyelitis after vaccination against SARS-CoV-2.

Neuromyelitis optica is an autoimmune demyelinating astrocytopathy of the central nervous system that primarily affects the optic nerve and spinal cord. It is considered a multifactorial disease associated with antibodies against aquaporin 4, with complement cascade activation and lymphocytic infiltration leading to axonal loss and causing significant morbidity and disability. In addition, cases of inflammatory diseases of the central nervous system have been described after vaccination against SARS-CoV-2, mainly acute disseminated encephalomyelitis. Also, a few cases of neuromyelitis optica spectrum disorder, mostly aquaporin 4+, have been reported. We describe a patient who developed symptoms suggestive of acute disseminated encephalomyelitis the next day after vaccination against SARS-CoV-2. Three months later, a longitudinally extensive transverse myelitis compatible with aquaporin 4+ neuromyelitis optica was successfully treated with an interleukin 6 inhibitor. There is no proven association and research is needed to establish whether optic neuromyelitis is related to vaccination; this is a single case report from which no conclusion can be drawn.

Determination of the Initial Abnormal Discharge Site in Temporal Lobe Epilepsy Through Combined EEG and Neuroimaging. What Is Next?

Objective: The objective of this study was to determine the relationship between atrophy of the hippocampus and severity of epilepsy in patients with temporal lobe epilepsy (TLE) as the first step to evaluate the possibility of surgery for epilepsy and analyze why patients cannot undergo epilepsy surgery. Methods: Volumetric MRI of the hippocampus was performed in 51 consecutive patients (29 men; mean age 40) with TLE. TLE diagnosis, lateralization, and severity (mild, moderate, severe) of seizures were based on a comprehensive evaluation that included neurologic examination and EEG in all patients. Patients with evidence of a lesion other than hippocampal sclerosis were not included in the study. We assessed the relationship between hippocampal volumes and electrophysiological evidence of seizure severity. Results: According to the affected side based on the EEG, a statistically significant difference (p < 0.001) in volume and a positive correlation between epilepsy and hippocampal atrophy were found. Conclusion: Our results confirm that volume loss to the hippocampus in patients with TLE correlates with the severity of epilepsy based on the EEG. Therefore, surgical treatment is considered early when hippocampal atrophy is evident in patients with refractory TLE. However, in Latin American countries, it is a challenge to get a patient to undergo epilepsy surgery. Therefore, we try to analyze the sad situation in our hospital.

Challenging presentation of primary vasculitis of the central nervous system.

Objective: To show a patient with a diagnosis of primary vasculitis of the nervous system and review this entity's literature. Clinical case: Male 32 years, with two events; first, with a transient monoparesis of the right upper extremity, improve with steroids in days. Now, with a motor Jacksonian progression from the upper to the lower right extremities and generalized seizures. After; aphasia, right hemiparesis, and delirium. In the antiresonance, the finding of multiple arterial cerebral "beading." With an in-depth study, the diagnosis of primary cerebral vasculitis was made. The management with levetiracetam, steroids, and Azathioprine offers a satisfactory evolution. Discussion: The primary CNS vasculitis is an exclusion diagnosis, with angio-MRI is possible to suspect it, but it is always obligate to discard a secondary etiology by infection, systemic diseases, neoplasia, and drugs. Conclusion: Although this problem is infrequent, we must consider this possibility. Opportune treatment can restore the quality of life.

Asociación entre la mutación homocigota c.318A>T en el exón 2 del gen EIF2B5 y la forma infantil de la leucoencefalopatía con sustancia blanca evanescente / Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy

Resumen: Introducción: La leucoencefalopatía con sustancia blanca evanescente es una de las leucodistrofias más frecuentes. Generalmente inicia en la infancia y presenta un patrón de herencia autosómica recesiva. El 90% de los casos manifiesta mutaciones en uno de los genes que codifican para las cinco subunidades del factor de iniciación eucariótica 2 (EIF2B5). El diagnóstico se realiza por las manifestaciones clínicas, hallazgos en la resonancia magnética cerebral y estudios moleculares confirmatorios. Caso clínico: Paciente masculino de 13 meses con neurodesarrollo previo normal. Antecedente de internamiento por vómito, hipertermia, irritabilidad y rechazo a la vía oral de 15 días de evolución. Ante la exploración presentó perímetro cefálico y pares craneales normales. Se encontró hipotónico, con reflejos incrementados, sin datos meníngeos ni de cráneo hipertensivo. La tomografía de cráneo mostró hipodensidad generalizada de la sustancia blanca. Egresó sin recuperar deambulación. A los 15 días presentó somnolencia y crisis convulsivas focales después de traumatismo craneoencefálico. En la resonancia magnética se observó hipointensidad generalizada de sustancia blanca. Ante la sospecha de leucoencefalopatía con sustancia blanca evanescente, se solicitó la secuenciación del gen EIF2B5, que reportó mutación homocigota c.318A>T en el exón 2. El paciente requirió múltiples hospitalizaciones por hipertermia y descontrol de crisis convulsivas. Posteriormente mostró deterioro cognitivo, motor y pérdida de la agudeza visual. Falleció a los 6 años por neumonía severa. Conclusiones: Este caso contribuye a conocer el espectro de mutaciones que se presenta en pacientes mexicanos y permite ampliar el fenotipo asociado con esta mutación.

Abstract: Background: Vanishing white matter disease is one of the most frequent leukodystrophies in childhood with an autosomal recessive inheritance. A mutation in one of the genes encoding the five subunits of the eukaryotic initiation factor 2 (EIF2B5) is present in 90% of the cases. The diagnosis can be accomplished by the clinical and neuroradiological findings and molecular tests. Case report: We describe a thirteen-month-old male with previous normal neurodevelopment, who was hospitalized for vomiting, hyperthermia and irritability. On examination, cephalic perimeter and cranial pairs were normal. Hypotonia, increased muscle stretching reflexes, generalized white matter hypodensity on cranial tomography were found. Fifteen days after discharge, he suffered minor head trauma presenting drowsiness and focal seizures. Magnetic resonance showed generalized hypointensity of white matter. Vanishing white matter disease was suspected, and confirmed by sequencing of the EIF2B5 gene, revealing a homozygous c.318A> T mutation in exon 2. Subsequently, visual acuity was lost and cognitive and motor deterioration was evident. The patient died at six years of age due to severe pneumonia. Conclusions: This case contributes to the knowledge of the mutational spectrum present in Mexican patients and allows to extend the phenotype associated to this mutation.

[Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy]. / Asociación entre la mutación homocigota c.318A>T en el exón 2 del gen EIF2B5 y la forma infantil de la leucoencefalopatía con sustancia blanca evanescente.

BACKGROUND: Vanishing white matter disease is one of the most frequent leukodystrophies in childhood with an autosomal recessive inheritance. A mutation in one of the genes encoding the five subunits of the eukaryotic initiation factor 2 (EIF2B5) is present in 90% of the cases. The diagnosis can be accomplished by the clinical and neuroradiological findings and molecular tests. CASE REPORT: We describe a thirteen-month-old male with previous normal neurodevelopment, who was hospitalized for vomiting, hyperthermia and irritability. On examination, cephalic perimeter and cranial pairs were normal. Hypotonia, increased muscle stretching reflexes, generalized white matter hypodensity on cranial tomography were found. Fifteen days after discharge, he suffered minor head trauma presenting drowsiness and focal seizures. Magnetic resonance showed generalized hypointensity of white matter. Vanishing white matter disease was suspected, and confirmed by sequencing of the EIF2B5 gene, revealing a homozygous c.318A> T mutation in exon 2. Subsequently, visual acuity was lost and cognitive and motor deterioration was evident. The patient died at six years of age due to severe pneumonia. CONCLUSIONS: This case contributes to the knowledge of the mutational spectrum present in Mexican patients and allows to extend the phenotype associated to this mutation.

Colangiopancreatrografía por resonancia magnética: otra alternativa diagnóstica / Magnetic resonance cholangiopancreatography as an alternative diagnostic procedure

Actualmente la resonancia magnética permite realizar una adecuada valoración morfológica y funcional de las vías biliares y pancreáticas en forma rápida (3 a 11 segundos) y no invasiva pues no requiere de medio de contraste. Los principales objetivos de este trabajo son mostrar las ventajas y aplicaciones de este procedimiento y proponerlo como el método alternativo en la valoració de pacientes con ictericia. Se valoraron en forma prospectiva 34 pacientes con ictericia y dolor abdominal, demostrando la causa y localización de los procesos obstructivos. Concluimos que la colangiopancreatografía por resonancia magnética es el método ideal para la valoración de las vías biliares y pancreáticas, sustituyendo potencialmente a otros métodos diagnósticos. Sus limitantes son las vesículas pequeñas con bilis espesa, así como los pequeños cálculos

Hallazgos angiotomográficos en pacientes con diagnóstico clínico de enfermedad vascular cerebral / Angiotomography in patients with cerebral vascular disease

Se describe, retrospectivamente los hallazgos angiotomográficos en 58 pacientes con diagnóstico de enfermedad vascular cerebral consistentes en isquemia cerebral transitoria, insuficiencia vértebrobasilar, ictus completo, alteraciones visuales y cefalea. Las ventajas de este procedimiento son su rapidez, alta sensibilidad para detectar placas de ateroma calcificadas y excelente demostración de la anatomía vascular intra y extracraneal. La aterosclerosis (31 por ciento) y los infartos lacunares (21 por ciento) fueron los hallazgos más comunes sobrre todo en pacientes mayores a los 50 años de edad. El 20 por ciento de los estudios no presentaron anormalidades, 8 por ciento correspondieron a aneurismas y el restante 20 por ciento correspondió a infartos crónicos, trombosis arterial, vasculitis, angiomas venosos, lesión selar y hemorragia subaracnoidea. Por último, considerando únicamente los estudios de cráneo (50 pacientes) los aneurismas saculares a nivel del polígono de Willis fueron el 12 por ciento