Manifestaciones endocrinológicas en la enfermedad de Von Hippel-Lindau: revisión narrativa

La enfermedad de Von Hippel-Lindau es un síndrome neoplásico, autosómico dominante, caracterizado por una mutación germinal del gen VHL que codifica para la proteína VHL en el cromosoma 3. Esta mutación predispone al desarrollo de tumores benignos y malignos que afectan diferentes órganos, a causa de una ausencia de la inhibición de la vía de la tumo-rigénesis mediada por el factor inducible por hipoxia. La prevalencia de esta enfermedad es de 2 a 3 por 100 000 personas y las neoplasias se localizan con mayor frecuencia en retina, sistema nervioso central, cabeza y cuello, páncreas, riñón, glándula suprarrenal y órgano reproductor. Se clasifica en 2 tipos dependiendo de la presencia o ausencia de feocromocitoma. El feocromocitoma y las neoplasias pancreáticas constituyen las manifestaciones endocrinas más frecuentes. El feocromocitoma se presenta entre el 10-30% de los casos. Puede cursar desde una entidad asintomática hasta una sintomatología variable que incluye la triada clásica de cefalea, palpitaciones y diaforesis. El diagnóstico se realiza mediante pruebas bioquímicas o sus metabolitos que confirman niveles elevados de catecolaminas, y estudios imagenológicos. Las lesiones pancreáticas son con frecuencia asintomáticas y se detectan de forma incidental en estudios de imagen realizados en los pacientes con VHL. Aunque las características clínicas y bioquímicas de estas neoplasias no son patognomóni-cas, pueden ser útiles para sugerir la enfermedad VHL como la etiología subyacente.

Von Hippel-Lindau disease is an autosomal dominant neoplastic syndrome characterized by a germline mutation of the VHL gene encoding the VHL protein on chromosome 3. This mutation predisposes to the development of benign and malignant tumors that affect different organs, due to an absence of inhibition of the hypoxia-inducible factor-mediated tumorigenesis pathway. The prevalence of this disease is 2 to 3 per 100,000 people, and neoplasms are most frequently located in the retina, central nervous system, head and neck, pancreas, kidney, adrenal gland, and the organ. It is classified into 2 types depending on the presence or absence of pheochromocytoma. Pheochromocytoma and pancreatic neoplasms are the most frequent endocrine manifestations. Pheochromocytoma occurs in 1030% of cases. It can range from an asymptomatic entity to a variable symptomatology that includes the classic triad of headache, palpitations and diaphoresis. The diagnosis is made through biochemical tests that confirm high levels of catecholamines and imaging studies. Pancreatic lesions are frequently asymptomatic and are detected incidentally in imaging studies performed in VHL patients. Although the clinical and biochemical characteristics of these malignancies are not pathognomonic, they may be useful in suggesting VHL disease as the underlying etiology.

Wide-field ESD for Barrett's adenocarcinoma at the gastroesophageal junction: technical approaches to facilitate en bloc R0 resection.

Video 1Wide-field ESD for Barrett's adenocarcinoma.

Perioperative management of pheocromocytoma/paraganglioma: a comprehensive review / Manejo perioperatorio del feocromocitoma/ paraganglioma: una revisión exhaustiva

Abstract Pheochromocytomas are rare neuroendocrine neoplasms that require adequate preoperative evaluation in order to prevent and lessen the serious complications of catecholamine hypersecretion. Preoperative management contributes to reducing morbidity and mortality rates in patients who have not been diagnosed with this condition and undergo any surgery. However, current mortality seems to be lower, a fact attributed to preoperative management with alpha blockers.

Resumen Los feocromocitomas son neoplasias neuroendocrinas poco frecuentes que requieren una evaluación preoperatoria adecuada, con el fin de prevenir y disminuir las complicaciones graves de la hipersecreción de catecolaminas. El manejo preoperatorio contribuye a disminuir las tasas de morbimortalidad en los pacientes que no han sido diagnosticados con esta entidad y son sometidos a cualquier cirugía. Sin embargo, la mortalidad actual parece ser más baja, hecho atribuido a un manejo preoperatorio con α-bloqueadores.

The Prion-like Properties of Amyloid-beta Peptide and Tau: Is there Any Risk of Transmitting Alzheimer's Disease During Neurosurgical Interventions?

Recent studies have recognized similarities between the peptides involved in the neuropathology of Alzheimer's disease and prions. The Tau protein and the Amyloid ß peptide represent the theoretical pillars of Alzheimer's disease development. It is probable that there is a shared mechanism for the transmission of these substances and the prion diseases development; this presumption is based on the presentation of several cases of individuals without risk factors who developed dementia decades after a neurosurgical procedure. This article aims to present the role of Aß and Tau, which underlie the pathophysiologic mechanisms involved in the AD and their similarities with the prion diseases infective mechanisms by means of the presentation of the available evidence at molecular (in-vitro), animal, and human levels that support the controversy on whether these diseases might be transmitted in neurosurgical interventions, which may constitute a wide public health issue.

¿Qué debe saber el neurocirujano sobre condrosarcoma espinal primario? Condrosarcoma espinal primario / What should the neurosurgeon know about primary spinal chondrosarcoma? Primary spinal chondrosarcoma

El condrosarcoma ocupa el tercer puesto dentro de las neoplasias óseas primarias, siendo la columna vertebral una localización inusual. Según su etiología se clasifican en condrosarcoma primario o secundario a lesiones subyacentes de tipo cartilaginosa como el encondroma u osteocondroma; siendo entre el 80-90% de bajo grado. Pueden presentarse en cualquier nivel de la columna vertebral, siendo más frecuente en la región torácica y cervical, comprometiendo los elementos posteriores de la vértebra, los cuerpos vertebrales o ambos, en un 40%, 15% y 45% respectivamente. El síntoma más común es el dolor localizado asociado a manifestaciones neurológicas. El método diagnóstico de elección es la biopsia por punción y el tratamiento se basa fundamentalmente en la resección quirúrgica

Chondrosarcoma occupies the third position within the primary bony neoplasia's, with an unusual location at the level of the spine. According to their etiology, they are classified as primary chondrosarcoma or secondary to underlying cartilaginous lesions such as the enchondroma or osteochondroma, being between 80-90% of low grade. They can occur at any level of the spine, being more frequent in the thoracic and cervical region, compromising the posterior elements of the vertebra, the vertebral body or both, by 40%, 15% and 45% respectively. The most common symptom is localized pain associated with neurological manifestations. The diagnostic method of choice is biopsy and treatment is based primarily on surgical resection.

WACEM Consensus Paper on Deep Venous Thrombosis after Traumatic Spinal Cord Injury.

The risk and outcome of deep vein thrombosis (DVT) in patients who sustained spinal cord injury (SCI) remain a challenge. We aimed to assess the incidence, risk, burden, and prophylaxis of DVT after SCI. Thirty-nine studies were identified from among 250 relevant articles based on firstly, broad criterion of DVT among SCI cases. secondly, "risk factors" impacting DVT, thirdly, published reports from apex bodies of global importance such as World Health Organization, Centre for disease control, Atlanta USA, and others were given due weightage for their authenticity. SCI is characterized by loss of motor, sensory, and autonomic function with partial or total damage of the anatomical structure leading to increased risk of thrombogenesis. SCIs present a higher risk of venous DVT constituting 9.7% of deaths in the 1st year of follow-up. Currently, prophylaxis with mechanical methods, vena cava filters and antithrombotic chemoprophylaxis in SCI are interventions for the management of DVT. DVT in SCI patients is not uncommon and needs a high index of suspicion and implementation of institutional prophylaxis protocol.

Lesiones olfatorias postraumáticas: Revisión de la literatura / Post-traumatic olfactory injuries: Literature review

Las alteraciones del olfato son frecuentemente halladas en pacientes con lesión traumática cerebral. Las lesiones del nervio olfatorio pueden asociadas a equimosis periorbitaria, fistula de líquido cefalorraquídeo, epitaxis, fractura nasal y epitaxis. La disfunción olfatoria postraumática es de manera usual infraevaluada. Presentamos una revisión narrativa sobre los aspectos más relevantes de las lesiones postraumáticas del nervio olfatorio.

Alterations in smell are frequently found in patients with traumatic brain injury. Olfactory nerve lesions can be associated with periorbital ecchymosis, cerebrospinal fluid fistula, epistaxis, and nasal fracture. Posttraumatic olfactory dysfunction is usually under-appreciated. We present a narrative review of the most relevant characteristics of post-traumatic injuries affecting the olfactory nerve.

Aicardi-Goutières Syndrome: Brief Case Report.

The case of a term newborn diagnosed with Aicardi-Goutières syndrome, a rare encephalopathy in our environment, with Mendelian inheritance pattern, characterized by a set of nonspecific neurological symptoms associated with typical findings of intracerebral calcifications. The case is presented with diagnostic imaging, in addition to elevated levels of interferon alpha and cerebrospinal fluid lymphocytosis.

Targeting Beta-Amyloid at the CSF: A New Therapeutic Strategy in Alzheimer's Disease.

Although immunotherapies against the amyloid-ß (Aß) peptide tried so date failed to prove sufficient clinical benefit, Aß still remains the main target in Alzheimer's disease (AD). This article aims to show the rationale of a new therapeutic strategy: clearing Aß from the CSF continuously (the "CSF-sink" therapeutic strategy). First, we describe the physiologic mechanisms of Aß clearance and the resulting AD pathology when these mechanisms are altered. Then, we review the experiences with peripheral Aß-immunotherapy and discuss the related hypothesis of the mechanism of action of "peripheral sink." We also present Aß-immunotherapies acting on the CNS directly. Finally, we introduce alternative methods of removing Aß including the "CSF-sink" therapeutic strategy. As soluble peptides are in constant equilibrium between the ISF and the CSF, altering the levels of Aß oligomers in the CSF would also alter the levels of such proteins in the brain parenchyma. We conclude that interventions based in a "CSF-sink" of Aß will probably produce a steady clearance of Aß in the ISF and therefore it may represent a new therapeutic strategy in AD.

Clearing Extracellular Alpha-Synuclein from Cerebrospinal Fluid: A New Therapeutic Strategy in Parkinson's Disease.

This concept article aims to show the rationale of targeting extracellular α-Synuclein (α-Syn) from cerebrospinal fluid (CSF) as a new strategy to remove this protein from the brain in Parkinson's disease (PD). Misfolding and intracellular aggregation of α-synuclein into Lewy bodies are thought to be crucial in the pathogenesis of PD. Recent research has shown that small amounts of monomeric and oligomeric α-synuclein are released from neuronal cells by exocytosis and that this extracellular alpha-synuclein contributes to neurodegeneration, progressive spreading of alpha-synuclein pathology, and neuroinflammation. In PD, extracellular oligomeric-α-synuclein moves in constant equilibrium between the interstitial fluid (ISF) and the CSF. Thus, we expect that continuous depletion of oligomeric-α-synuclein in the CSF will produce a steady clearance of the protein in the ISF, preventing transmission and deposition in the brain.

Sacroiliac Pain: A Clinical Approach for the Neurosurgeon.

Pain originating from sacroiliac joint may also cause pain in the lumbar and gluteal region in 15% of the population. The clinical manifestation represents a public health problem due to the great implications on the quality of life and health-related costs. However, this is a diagnosis that is usually ignored in the general clinical practice; probably because of the unknown etiology, making harder to rule out the potential etiologies of this pathology, or maybe because the clinical criteria that support this pathology are unknown. By describing several diagnostic techniques, many authors have studied the prevalence of this pathology, finding more positive data than expected; coming to the conclusion that even though there is no diagnostic gold standard yet, an important amount of cases might be detected by properly applying several tests at the physical examination. Thus, it is necessary to have knowledge of the physiopathology and clinical presentation so that diagnosis can be made to those patients that manifest this problem. We present a clinical approach for the neurosurgeon.

Encefalopatía Traumática Crónica: Revisión De La Literatura / Chronic Traumatic Encephalopathy: Review Of Literature

Resumen La exposición repetitiva a traumas craneales es una de las características de la encefalopatía traumática crónica. Neuropatológicamente en esta patología encontramos depósitos de proteína hiperfosforilada tau (p-tau). Inicialmente fue descrita como demencia pugilística, pero se ha asociado a otros tipos de deportes, traumas por explosión entre otros. Los síntomas de esta enfermedad incluyen pérdida de memoria, alteración cognitiva, cambios de ánimo y demencia. Presentamos una revisión de la literatura sobre esta interesante enfermedad.

Abstract Repetitive exposure to cranial trauma is one of the hallmarks of chronic traumatic encephalopathy. Neuropathologically, hyperphosphorylated protein tau (p-tau) deposits are found. Initially it was described as pugilistic dementia, but it has been associated with other types of sports, explosive traumas among others. Symptoms of this disease include memory loss, cognitive impairment, mood swings and dementia. We present a review of the literature on this interesting disease.

Síncope en Urgencias: Aproximación Clínica / Syncope in Emergency Room: Clinical Approach

Resumen El síncope es un síntoma definido como una perdida transitoria de la conciencia de inicio rápido, de corta duración y con recuperación completa y espontánea. Los picos de presentación son en la adolescencia y posterior a la 8va década de la vida. La incidencia de sincope representa del 1% al 3% de los ingresos hospitalarios y se asocia con comorbilidad cardiovascular y farmacoterapia cardiovascular siendo en los adultos mayores una causa importante de morbimortalidad. La incidencia acumulada de síncope en las mujeres es casi el doble que en los hombres. Su aparición está explicada por una disminución en el flujo sanguíneo cerebral producto del descenso del gasto cardiaco ya sea por una caída en la presión arterial sistólica por debajo de 60 mmHg o disminución en la resistencia periférica. El síncope de divide en 3 grupos: 1) Síncope reflejo, en el cual se produce un cambio repentino en la actividad del sistema nervioso autónomo que lleva a la caída en la presión arterial; 2) Síncope secundario a hipotensión ortostática, en donde la actividad simpática eferente no proporciona una suficiente vasoconstricción y 3) Síncope de causa cardiopulmonar, caracterizado por una disminución brusca y repentina del gasto cardiaco producto de arritmias o enfermedades cardiacas estructurales. Dependiendo de la causa del síncope se puede o no presentar pródromo, que más comúnmente se compone de diaforesis, calor y rubor. La verdadera pérdida de la conciencia por lo general dura menos de un minuto, aunque algunos pacientes pueden tardar varios minutos en recuperar plenamente la conciencia. Por ello el diagnóstico está basado en una buena historia clínica con un examen físico completo. El tratamiento depende de la causa y el mecanismo de los episodios sincopales. Adicionalmente se deben tener como objetivos el aliviar los síntomas y mejorar el pronóstico, lo cual implica evitar o reducir las recurrencias.

Abstract Syncope is a symptom defined as a transient loss of consciousness, of rapid onset, of short duration and with complete and spontaneous recovery. Peaks of presentation are in adolescence and after the 8th decade of life. The incidence of syncope represents 1% to 3% of hospital admissions and is associated with cardiovascular comorbidity and cardiovascular pharmacotherapy, being an important cause of morbidity and mortality in the elderly. The accumulative incidence of syncope in women is almost double than in men. Its onset is explained by a decrease in cerebral blood flow due to the decrease in cardiac output, whether due to a drop in systolic blood pressure below 60 mmHg or a decrease in peripheral resistance. The syncope is divides into 3 groups: 1) Reflex syncope, in which there is a sudden change in the autonomic nervous system activity that leads to a drop in blood pressure; 2) Syncope secondary to orthostatic hypotension, where sympathetic efferent activity does not provide sufficient vasoconstriction; and 3) Syncope of cardiopulmonary cause, characterized by an abrupt and sudden decrease in cardiac output due to arrhythmias or structural heart diseases. Depending on the cause of syncope it may or may not present prodrome, which is more commonly composed of diaphoresis, heat and flushing. True loss of consciousness usually lasts less than a minute, although some patients may take several minutes to fully regain consciousness. Therefore, the diagnosis is based on a good medical history with a complete physical examination. Treatment depends on the cause and mechanism of syncopal episodes. In addition, the goals should be to alleviate symptoms and improve prognosis, which means avoiding or reducing recurrences.

Síndrome de Locked-In: Reporte de Caso y Revisión de Literatura / Locked-In Syndrome: Case Report And Review Of Literature

RESUMEN El Síndrome de Locked-In también conocido como Síndrome de Enclaustramiento, de Deseferentización o de Encerramiento, se definió por primera vez en 1966 por Plum y Posner. Las causas pueden agruparse en vasculares y no vasculares, siendo las primeras las más frecuentes. Clínicamente este síndrome se caracteriza porque la conciencia y el estado de vigila están conservados, pero existe cuadriplejía, anartria, disfagia y dificultad para coordinar la mecánica ventilatoria, representando las complicaciones pulmonares la principal causa de muerte. En la mayoría de los casos, el paciente conserva la movilidad ocular vertical, por tanto, el único método de comunicación es por medio de parpadeo ocular y movimientos verticales oculares. A continuación, se hace la presentación de un caso y revisión de la literatura con los aspectos fisiopatológicos, clínicos, diagnósticos y terapéuticos más relevantes.

ABSTRACT Locked-In Syndrome, also known as Enclaustration, Deseferentization, or Enclosure Syndrome, was first defined in 1966 by Plum and Posner. Causes can be grouped into vascular and non-vascular, the former being the most frequent. Clinically this syndrome is characterized by consciousness and the state of watch conserved, but there is quadriplegia, anartria, dysphagia and difficulty to coordinate the ventilatory mechanics, representing pulmonary complications the main cause of death. In most cases, the patient retains vertical eye mobility, so the only method of communication is through eye blinking and vertical eye movements. Next, a case presentation and review of the literature with the most relevant pathophysiological, clinical, diagnostic and therapeutic aspects is done.

Hidrocefalia De Presión Normal / Normal Pressure Hydrocephalus

Resumen La hidrocefalia de presión normal es una patología reversible que forma parte de las demencias. A pesar del tiempo que ha transcurrido desde su descubrimiento, su fisiopatología no ha sido claramente establecida y se han planteado dos teorías que buscan explicar el proceso. Una está basada en cambios en el flujo de líquido cefalorraquideo y la otra en el flujo sanguíneo cerebral. Además, el proceso de evaluación y diagnóstico no está determinado, puesto que no existe un método estándar y los síntomas son similares a otras patologías de sistema nervioso central, haciendo que el diagnóstico se realice gracias a la suma de los síntomas clínicos y ciertos hallazgos imagenológicos que no son siempre constantes.

Abstract Normal pressure hydrocephalus is a pathology causing dementia that is reversible. Despite the time elapsed since its discovery, its pathophysiology has not been clearly established and two theories have been proposed that try to explain the process, one based on changes in cerebrospinal fluid flow and the other on cerebral blood flow. In addition, the evaluation and diagnosis process is not determined, since there is no standard method and the symptoms are similar to other pathologies of the central nervous system, leading to the diagnosis as the summation of clinical symptoms and some findings in imaging which are not always constant.