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The spectrum of autoimmune encephalitis (AE) encompasses several entities characterized by a variable frequency of psychiatric symptoms, cognitive dysfunction, focal deficits, and seizures. Although patients with AE can be categorized in specific syndromes, overlapping manifestations are also common. Furthermore, atypical correlations between clinical phenotypes and autoantibody profiles could occur in rare cases. Here, we report the rare case of a young adult man attending due to new-onset seizures and a history of memory loss, autonomic disturbances, headache, behavioral changes, and visual and olfactory hallucinations. The patient was subjected to a complete diagnostic approach that included a comprehensive laboratory workup, neuropsychological testing, electroencephalogram, cerebrospinal fluid (CSF) analysis, brain MRI, and positron emission tomography/computed tomography scan that revealed a functional and structural compromise of the bilateral medial temporal lobes. Together with the clinical manifestations of the patient, these findings were compatible with the diagnosis of autoimmune limbic encephalitis (ALE). Strikingly, further analysis of the CSF showed autoantibodies against the N-methyl-D-aspartate (NMDA) receptor. We found very few cases of the co-occurrence of anti-NMDA receptor antibodies and nonparaneoplastic ALE in the literature, especially in male patients. Our report exemplifies the complicated differential diagnosis of ALE and adds clinical information of the association with anti-NMDA receptor antibodies.

BACKGROUND Nasal chondromesenchymal hamartomas (NCMHs) are benign, slow-growing lesions formed by mesenchymal and cartilaginous components. They occur predominantly in male infants at the nasopharynx and orbit. Rare cases have been reported in adults. Ectopic NCMHs occurring in other head regions without the typical nasopharyngeal or orbital involvement have not been previously described. OBSERVATIONS The authors presented the case of a 40-year-old woman with a giant mass in the left frontoparietal region that started to enlarge progressively after the patient’s first pregnancy at the age of 21 years. The tumor caused intense headaches, nausea, vomiting, asthenia, and syncope. On admission, the neurological examination revealed no abnormalities. Brain magnetic resonance imaging showed a solid homogeneous tumor without intraaxial involvement extending inferiorly to the left zygomatic arch, with a significant mass effect on the adjacent bones but no infiltration. Remarkably, digital subtraction angiography demonstrated that the tumor received blood supply from superficial as well as intracranial branches of the left vertebral artery. After tumor resection, histopathological analysis revealed characteristics indistinguishable from an NCMH. LESSONS The authors described a rare NCMH of the scalp with intracranial blood supply in an adult patient. A case with similar characteristics had not been reported before.

Background Cholesteatomas are benign tumors mainly composed of cholesterol crystals that rarely arise within the orbit. However, orbital cholesteatomas require a complete surgical resection due to their recidivating potential. Transcranial approaches offering a broad surgical exposure of the orbital cavity have been scarcely used for the management of these tumors. Here, we provide evidence of the benefits of the pterional craniotomy for the surgical resection of orbital tumors by sharing our experience in the surgical management of a cholesteatoma of the superotemporal orbital wall. Case presentation A 45-year-old Hispanic man with a 2-year history of progressive proptosis of the left eye attended to our center complaining of diplopia and migraine. At his arrival, physical examination revealed ptosis, palpebral edema, and exophthalmos of the left eye, as well as the abolishment of the ipsilateral photomotor and consensual responses. Fundoscopy showed mild optic atrophy, whereas a T2-weighted magnetic resonance imaging (MRI) of the head showed a hyperintense mass arising at the superotemporal wall of the orbit that was displacing the eyeball. The tumor was resected using a pterional craniotomy without postoperative complications. The histopathological analysis of the tumor revealed a cholesteatoma. The patient recovered the functionality of the left eye with no visual sensitive deficits nor tumor recurrence 1 year after the surgery. Conclusions Our results support the use of the pterional craniotomy as a safe procedure for the surgical resection of cholesteatomas arising at the superotemporal walls of the orbit, with low postoperative morbidity.

La enfermedad de Creutzfeldt-Jakob es una encefalopatía espongiforme invariablemente mortal caracterizada por demencia rápidamente progresiva. Constituye un reto diagnóstico dada su rareza y sus manifestaciones neurológicas inespecíficas, las cuales se relacionan con la pérdida global de tejido nervioso secundaria a la acumulación tóxica de la proteína priónica en el cerebro. Su confirmación definitiva depende del análisis histopatológico de biopsias o autopsias y generalmente se realiza de forma post-mortem. No obstante, es de vital importancia la identificación temprana de los casos de este padecimiento para diferenciarlos de otras formas tratables de deterioro cognitivo agudo y prevenir su transmisión iatrogénica. Actualmente se emplean diversos marcadores electrofisiológicos, imagenológicos y moleculares para mejorar el diagnóstico pre-mortem de la enfermedad. Sin embargo, estas pruebas tienen baja sensibilidad. Dada la urgente necesidad de estudios que permitan la detección de priones in vivo, se han desarrollado técnicas moleculares que logran dicho propósito con alta sensibilidad y especificidad, constituyendo una nueva oportunidad para mejorar el diagnóstico y vigilancia de ésta y otras formas de encefalopatías espongiformes. El objetivo de la presente revisión narrativa es proveer una actualización de las nuevas herramientas moleculares para la detección de priones en muestras biológicas de pacientes con sospecha de encefalopatía espongiforme.

BACKGROUND Preserving the neurological function of sacral nerves during total or partial sacrectomy is challenging. OBSERVATIONS The authors describe a case of an osseous desmoplastic fibroma of the sacrum in a 51-year-old woman. The patient attended the authors’ institution with loss of muscle strength and sensitivity impairment in both legs, gait instability, bowel constipation, urinary incontinence, and weight loss. Preoperative magnetic resonance imaging and positron emission tomography/computed tomography showed intrapelvic and posterior extension of the tumor but sparing of S1 and the sacroiliac and lumbosacral joints. After a multidisciplinary discussion of the case, a staged anterior–posterior approach to the sacrum was chosen. The abdominal approach allowed full mobilization of the uterus, ovaries, bladder, and colon and protection of iliac vessels. After tumor resection, a synthetic surgical mesh was placed over the sacrum to minimize soft tissue defects. Then, the posterior stage allowed the authors to perform a bicortical osteotomy, achieving wide tumor excision with minimal nerve root injury. Spinopelvic fixation was not necessary, because both sacroiliac and lumbosacral joints remained intact. A few days after the surgery, the patient restarted ambulation and recovered sphincter control. LESSONS Multidisciplinary planning and a staged abdominal and posterior approach for partial sacrectomy were fundamental to preserve neurological function in this case.

The differentiation between influenza and coronavirus disease 2019 (COVID-19) could constitute a diagnostic challenge during the ongoing winter owing to their clinical similitude. Thus, novel biomarkers are required to enable making this distinction. Here, we evaluated whether the surfactant protein D (SP-D), a collectin produced at the alveolar epithelium with known immune properties, was useful to differentiate pandemic influenza A(H1N1) from COVID-19 in critically ill patients. Our results revealed high serum SP-D levels in patients with severe pandemic influenza but not those with COVID-19. This finding was validated in a separate cohort of mechanically ventilated patients with COVID-19 who also showed low plasma SP-D levels. However, plasma SP-D levels did not distinguish seasonal influenza from COVID-19 in mild-to-moderate disease. Finally, we found that high serum SP-D levels were associated with death and renal failure among severe pandemic influenza cases. Thus, our studies have identified SP-D as a unique biomarker expressed during severe pandemic influenza but not COVID-19.

The mechanisms underlying the immunopathology of tuberculous meningitis (TBM), the most severe clinical form of extrapulmonary tuberculosis (TB), are not understood. It is currently believed that the spread of Mycobacterium tuberculosis (Mtb) from the lung is an early event that occurs before the establishment of adaptive immunity. Hence, several innate immune mechanisms may participate in the containment of Mtb infection and prevent extrapulmonary disease manifestations. Natural killer (NK) cells participate in defensive processes that distinguish latent TB infection (LTBI) from active pulmonary TB (PTB). However, their role in TBM is unknown. Here, we performed a cross-sectional analysis of circulating NK cellCID="C008" value="s" phenotype in a prospective cohort of TBM patients ( n = 10 ) using flow cytometry. Also, we addressed the responses of memory-like NK cell subpopulations to the contact with Mtb antigens in vitro. Finally, we determined plasma levels of soluble NKG2D receptor ligands in our cohort of TBM patients by enzyme-linked immunosorbent assay (ELISA). Our comparative groups consisted of individuals with LTBI ( n = 11 ) and PTB ( n = 27 ) patients. We found that NK cells from TBM patients showed lower absolute frequencies, higher CD69 expression, and poor expansion of the CD45RO+ memory-like subpopulation upon Mtb exposure in vitro compared to LTBI individuals. In addition, a reduction in the frequency of CD56brightCD16- NK cells characterized TBM patients but not LTBI or PTB subjects. Our study expands on earlier reports about the role of NK cells in TBM showing a reduced frequency of cytokine-producing cells compared to LTBI and PTB.

BackgroundCXCL17 is chemotactic for myeloid cells, exhibits broad-spectrum bactericidal activity, and is expressed in mucosal tissues. This chemokine is constitutively expressed in the respiratory tract, suggesting a role for CXCL17 in lung defenses. However, little is known about the possible participation of CXCL17 during respiratory infections in humans. Here, we evaluated the role of CXCL17 as a biomarker in patients with severe pandemic influenza A(H1N1) and coronavirus disease 2019 (COVID-19). MethodsWe conducted a prospective cohort study in hospitalized patients with severe influenza A(H1N1) and COVID-19 admitted to two national reference centers in Mexico City. Peripheral blood samples were obtained on admission for determinations of the serum levels of CXCL17 by enzyme-linked immunosorbent assay (ELISA). The expression of CXCL17 in lung autopsy specimens from patients that succumbed to both diseases was assessed by immunohistochemistry (IHQ). Serum CXCL17 levels were compared between patients grouped according to their disease and clinical outcome. The diagnostic and predictive value of serum CXCL17 levels was evaluated using machine-learning algorithms and regression analyses. ResultsA total of 92 patients were enrolled in the study, from which 68 were infected with influenza and 24 had COVID-19. Their clinical characteristics were similar, although dyspnea, rhinorrhea, and sputum production were more common during influenza, whereas dry cough and vomit were more frequent among COVID-19 patients. Both diseases induced the local expression of CXCL17 in the lung. However, serum levels of CXCL17 were increased only in patients with influenza but not COVID-19. CXCL17 not only differentiates influenza from COVID-19 but serves as a prognostic biomarker associated with mortality and renal failure in influenza patients. Using cell culture assays, we also identified that human alveolar A549 cells and peripheral blood monocyte-derived macrophages produce CXCL17 after influenza A(H1N1) pdm09 virus infection. ConclusionsOur results suggest a possible role for CXCL17 in the pathogenesis of influenza A(H1N1), supporting the use of this molecule as a prognostic biomarker. Future studies on the role of CXCL17 in COVID-19 are warranted.

Highlights • A first case report of a patient with cervical spondylotic myelopathy and COVID-19. • SARS-CoV-2 can cause a neurological decline in patients with chronic spinal disorders. • Sites of compressive myelopathy may be at risk for detrimental effects of the virus. • Steroids may be useful for spinal cord injury associated with COVID-19. • COVID-19 has a significant impact on the routine workflow at spine surgery centers., Introduction Besides typical respiratory symptoms, the coronavirus disease 2019, also known as COVID-19, is characterized by a wide range of neurological symptoms that result from the injury of the brain and peripheral nerves. Only a few reports have described the involvement of the spinal cord among COVID-19 patients. Furthermore, little is known about the risk of individuals with chronic degenerative conditions of the spine for acute neurological complications of COVID-19. Case presentation Here, we describe the case of a 73-year-old man with a subclinical cervical multifocal spondylotic myelopathy that manifested neurological symptoms of spinal cord injury only some days after getting infected with SARS-CoV-2. The patient did not show any data associated with respiratory involvement and improved clinically after decompressive spinal surgery and administration of steroids. Conclusions This is the first reported case of an acute exacerbation of a chronic degenerative condition of the spine caused by COVID-19.

Background Neuropsychological rehabilitation is a crucial component of medical care for patients with diffuse axonal injury (DAI). However, current cognitive intervention programs directed to favor the training of specific domains individually have shown controversial results. Here, we evaluated the effectiveness of a neuropsychological rehabilitation program directed to favor training of attention, memory, visuospatial abilities, and executive functioning together in a patient with severe traumatic brain injury (TBI)-associated DAI. Case presentation A 26-year-old Hispanic woman with a recent history of a severe TBI attended our center complaining of memory problems, dysarthria, and difficulty in planning. A comprehensive cognitive assessment revealed dysfunction in sustained, selective, and divided attention, alterations in memory, planning, and organization of executive behavior, as well as impairment of visuospatial cognitive functions. The patient underwent a 24-week neuropsychological rehabilitation program directed to favor attention, memory, visuospatial abilities, and executive functioning together. After the cognitive intervention, we observed a better patient's performance in tasks requiring sustained, selective, and divided attention, improvement of encoding and retrieval memory problems, use of spatial relationships, planning, and organization of behavior skills. We also observed generalization effects on other domains, such as learning, mental flexibility, inhibition functions, and language. Conclusions In conclusion, our results suggest that neuropsychological rehabilitation programs favoring multiple domains together are useful in reestablishing cognitive deficits in patients with severe DAI.

Meningiomas are usually benign but can extend to their surroundings, infiltrating skeletal and brain structures. Skull invasion by meningiomas could be associated with adverse outcomes, including progression and recurrence. The molecular mechanisms regulating the invasive potential of these tumors are not well characterized. Here, we describe the clinical, imaging, and neuropsychological characteristics of a patient with a convexity fibrous meningioma invading the skull. Furthermore, we analyzed the tumoral expression of some molecular factors potentially implicated in bone invasion using immunohistochemistry. Our analysis reveals high expression of matrix metalloproteinase 1 (MMP-1), MMP-2, MMP-9, and interleukin 6 (IL-6) in the resected meningioma. Importantly, little brain expression of these factors was detected in public human tissue gene expression databases, nor a meningioma without hyperostosis that served as a control. Our study suggests a possible role for IL-6 and matrix-metalloproteinases in bone invasion by meningiomas that must be validated in larger cohorts.

Background Current approaches to scalenectomy for brachial plexus decompression can cause nerve injuries in patients with neurogenic thoracic outlet syndrome (nTOS), especially when first rib resection (FRR) is performed. We describe a modified supraclavicular approach for scalenotomy that reduces the postoperative morbidity of nTOS patients. Methods The patient is placed in supine position with the neck slightly extended and turned to the opposite side of the procedure. The modified incision begins above the clavicle 2.5 cm lateral to its first third, extends in medial direction, and turns upwards along the lateral edge of the sternocleidomastoid muscle (SCM) 2.5 cm from the clavicle. Skin flaps are elevated. The external jugular vein is dissected and retracted. The supraclavicular nerves and omohyoid muscle are conserved if found. The phrenic nerve is identified, dissected, and retracted. The anterior scalene muscle is divided, and the brachial plexus is freed. The clinical data and postoperative outcomes of patients that underwent surgery over the last three years were retrieved. The functionality of the arm after surgery was evaluated using the Disabilities of the Arm, Shoulder, and Hand questionnaire in Spanish (DASHe). Results Sixteen nTOS patients received surgery with one bilateral procedure (17 procedures). Seventy-five percent were females with a median age of 53 years. Obesity and smoking were observed in 43.75% and 37.5% of patients, respectively. No postoperative complications occurred, except for one partial phrenic nerve palsy. All patients reduced their DASHe scores after surgery (mean reduction 41.09 ± 18.37). Conclusion Our modified supraclavicular approach for scalenotomy is safe and improves outcomes in patients with nTOS, reducing the need for FRR.

Background Agenesis of the corpus callosum can occur isolated or as part of a complex congenital syndrome. Patients with isolated agenesis of the corpus callosum may present with severe intellectual disability, although a proportion of affected individuals develop normal intelligence. However, even in patients with no apparent deficits, subtle neuropsychological alterations may occur as the cognitive demand increases with age. Hence, patients with this deffect require a strict follow-up during their postnatal life. Thus, physicians require a better knowledge of the cognitive features of agenesis of the corpus callosum to improve their approach to this cerebral malformation. Here, we report an illustrative case of a school-age child with isolated agenesis of the corpus callosum and normal intelligence. We also provide a literature review about the postnatal screening of neurocognitive deficits in patients with agenesis of the corpus callosum. Case presentation An 8-year-old Hispanic boy with total agenesis of the corpus callosum attended for medical follow-up. The defect was identified during the neonatal period by cranial ultrasonography and brain computed tomography scan. However, he did not present any craniofacial or non-cerebral malformation suggestive of a congenital syndrome. Furthermore, he showed no neuropsychiatric disorder or intellectual disability during his early childhood. At the age of 4, he was subjected to a control brain magnetic resonance imaging that showed total agenesis of the corpus callosum and colpocephaly. At his arrival, a neurological examination was normal with no signs of intracranial hypertension. His intelligence quotient was unaltered and he scored normal in the Mini-Mental State Examination test. The literature reviewed here suggested that patients with agenesis of the corpus callosum require a strict neurocognitive follow-up during postnatal life, as they may present neuropsychological deficits during adolescence, when development of the corpus callosum is completed and there is maximum reliance on this structure. Thus, our patient was scheduled for future annual neurocognitive testing. Conclusions Isolated agenesis of the corpus callosum is not innocuous, and patients with this defect require a strict neurocognitive follow-up. We provide an informative reference tool useful for the postnatal neuropsychological screening of patients with isolated agenesis of the corpus callosum.

Background Little is known about the clinical phenotype of amyotrophic lateral sclerosis (ALS) in non-Caucasian populations. Here, we aimed to describe the clinical characteristics, prognostic factors and survival of Mexican patients with ALS. Methods We conducted a retrospective study by reviewing the medical records of patients with ALS that attended and were regularly followed at a third level hospital in Mexico City from 2000 to 2015. We calculated absolute and relative frequencies of the clinical characteristics from all the participants. We also estimated correlation coefficients between clinical features and overall survival. Additionally, survival rates were compared for all participants grouped according to different clinical features using the Kaplan-Meier method and the log-rank test. Results We enrolled 45 ALS patients, 53.33% had spinal-onset ALS and 46.66% presented bulbar ALS. The male/female ratio was 0.8. The mean age at onset of symptoms was 58.11 years. Mean survival time from onset was 64.73 ± 34.83 months. Cumulative survival rate after 5 years of disease onset was 44.44%. Age at onset and age at diagnosis inversely correlated with overall survival time. Also, we found that bulbar-onset, short diagnostic delay, percutaneous endoscopic gastrostomy, mechanical ventilation, and lower total cholesterol serum levels were associated with short survival. Conclusions The clinical characteristics of Mexican ALS patients differ from the disease phenotype observed in Caucasians. Nonetheless, the predictive value of certain well-recognized prognostic factors remains consistent in our population. The current study provides relevant information for a better understanding of prognostic factors in ALS patients from Mexico and other Latin American countries.

Spinal cord teratomas are rare. There are few reports of teratomas affecting the cervical spine and their association with spondylotic radiculopathy has not been described. A 59-year-old woman with history of fecal incontinence attended with cervical radicular pain radiating to upper limbs. Physical examination showed distal muscle hypotrophy and abolishment of bicipital, tricipital, and brachioradialis reflexes of the right arm, preserving proximal strength. Also, hiporreflexia and loss of proprioception in the right lower limb was observed. Magnetic resonance imaging showed an intramedullary mass at C7-T1, accompanied by intervertebral disk protrusions and dural sac compressions at the same level. One-stage posterior-anterior operative approach for tumor resection, decompression of the radiculopathy and replacement of intervertebral discs was performed. The histopathological diagnosis was for a mature teratoma. We described the first case of an intramedullary cervical teratoma associated with radiculopathy in an adult, providing evidence of rare long-lasting teratomas affecting the cervical spine.

Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal and rapidly progressive form of dementia caused by the spread of a prion protein within the brain. Its real incidence is unknown since its definitive diagnosis requires histopathological analysis of brain specimens. However, novel tests that detect prion proteins in cerebrospinal fluid samples, such as the real-time quaking-induced conversion (RT-QuIC) technique, now allow the pre-mortem diagnosis of sCJD. Here, we report the first case of sCJD confirmed by RT-QuIC in Latin America, providing evidence of its diagnostic performance and clinical correlation.

El nucleo supraquiasmatico (NSQ) es el principal reloj biologico de los mamiferos y sincroniza la actividad de la glandula pineal al ciclo luz-oscuridad a traves de una via polisinaptica. El efecto de asa de retroalimentacion neuroendocrina se lleva a cabo por la melatonina. El presente trabajo pretende demostrar que la glandula pineal modula la sensibilidad a la luz en el NSQ. Se utilizaron ratas Wistar, y se asignaron a 3 grupos: grupo A (falsa pinealectomia -sham-, sin luz), grupo B (falsa pinealectomia -sham- + luz) y grupo C al cual se le realizo la pinealectomia + luz, despues de la manipulacion se sacrifican para realizar inmunohistoquimica para c-Fos y al final conteo celular por tecnica de estereologia. Se obtuvo una reduccion del 46,8% del promedio de celulas inmunorreactivas a c-Fos en el grupo C en comparacion del grupo B. Este trabajo muestra que la sensibilidad a la luz esta modulada por la actividad de la glandula pineal.

El trastorno del espectro autista (tea) es un desorden del desarrollo complejo caracterizado principalmente por carencias en la comunicación y en la interacción social, así como por patrones de comportamiento, intereses o actividades repetidas y restrictivas. La prevalencia es mayor en niños. Se desconocen las causas exactas de las anomalías o irregularidades en las conexiones neuronales subyacentes a la enfermedad, pero etiológicamente el tea se considera un padecimiento multifactorial. Se han propuesto diferentes mecanismos fisiopatológicos para explicar las manifestaciones del trastorno, entre los que destaca una alteración en el balance de señales excitadoras e inhibidoras mediadas por el glutamato y el ácido gamma amino-butírico (gaba), respectivamente, en circuitos que controlan funciones cognitivas como la memoria y aprendizaje. El tratamiento del tea consiste en apoyo psicopedagógico y farmacológicos, cada caso debe ser individualizado. Esta revisión aborda aspectos relevantes de los mecanismos fisiopatológicos, características clínicas y terapéutica de este trastorno.

La neurofibromatosis tipo 1 (nf1) es una enfermedad autosómica dominante que provoca el desarrollo de tumores denominados neurofibromas, su prevalencia es de un caso por cada 3 000 personas aproximadamente. Su diagnóstico es principalmente clínico. Un neurofibroma plexiforme (np) es una neoplasia que afecta múltiples fascículos de un nervio y que crece a lo largo de los mismos, ocasionando la compresión de estructuras adyacentes. La transformación maligna ocurre hasta en 17% de los casos y se sospecha cuando hay un crecimiento rápido de los np, dolor de difícil manejo, consistencia dura del tumor y déficit neurológico de nueva aparición. Las metástasis a pulmones y hueso son las más frecuentes. El manejo quirúrgico de estas lesiones se dificulta frecuentemente por la complejidad anatómica de los tumores y estructuras afectadas. Hasta ahora, el mejor tratamiento para np inoperables sigue siendo controvertido. Nuevos fármacos han sido propuestos para lograr dicho objetivo; se espera que la terapia génica en un futuro no muy lejano pueda ofrecer una solución etiológica. En la presente revisión se proporciona información actualizada sobre nuevos fármacos candidatos para tratamiento de los np que afectan a sujetos con nf1.

El traumatismo craneoencefálico es un problema de salud pública debido a la alta mortalidad y discapacidad que ocasiona, en especial en grupos de edad económicamente activos. Su abordaje requiere de una rápida valoración e inicio oportuno del tratamiento adecuado para controlar lesiones primarias y sus complicaciones. El médico familiar tiene un papel importante en la evaluación y manejo de un individuo con trauma de cráneo, ya que constituye el primer contacto del paciente con el sistema de salud. El traumatismo craneoencefálico puede ser una urgencia potencialmente mortal, no obstante, el médico familiar puede ser el primer contacto en los casos de trauma de cráneo menos severos, por lo que es necesario mantener un conocimiento actualizado de los aspectos más relevantes en el tratamiento de este padecimiento. En este trabajo, se realiza una revisión del diagnóstico y manejo del traumatismo craneoencefálico en el primer nivel de atención, con el propósito de fortalecer la formación de médicos de primer contacto respecto de este tipo de eventos.