ABSTRACT
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.
ABSTRACT
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.
ABSTRACT
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.
Subject(s)
Humans , Brain Injuries, Traumatic , Olfactory Nerve , Smell , Fractures, BoneABSTRACT
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.
ABSTRACT
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.
ABSTRACT
Schwannoma originates from the myelin sheath of peripheral nerves. It accounts for about 8% of all intracranial tumors. Commonly, schwannoma is located in the extra-axial locations; intra-axial schwannomas are extremely uncommon. The schwannoma arising from fourth ventricle is extremely uncommon and authors in a detailed PubMed and MEDLINE search could find only seven cases reported in the literature in the form of isolated cases report, who were managed surgically, with only one being a pediatric case. Authors report second case of intra-fourth ventricular schwannoma occurring in the pediatric age group. The hypothesis of intraventricular schwannoma is postulated to be aberrantly placed multipotent cell during embryogenesis and later transforming into Schwann cell and producing schwannoma. Pertinent literature is reviewed along with diagnosis, and management of such rare case is discussed briefly.
