Introduccion: Optic neuromyelitis, a clinical syndrome characterized by the association of transverse myelitis and optic neuritis, is nowadays recognized as a disease whose pathophysiology, clinical features, and diagnostic and laboratory imaging findings are specific. Objective: To describe the clinical characteristics, diagnostic methods and treatment of patients with neuromyelitis Optica (NMO) in three health centers fourth level of the City of Bogota. Materials and method: Design: A case series type was performed. Participants: consecutive cases of patients of either gender were included between 19 and 48 years, divided into two groups according to the International Consensus criteria for the diagnosis of NMO 2015, NMOSD with AQP4-IgG positive, and NMOSD with AQP4- IgG negative. Patients were recruited from three hospitals from June 2013 to May 2015. Statistical analysis: The description of the variables was performed by absolute and relative frequencies, analyzes were performed in STATA statistical package 13®. Results: A total of 22 patients with a median age of 36, mostly women, median onset was 31 years (IQR 24-39). The technique most commonly used for diagnosis was IFI, the most frequent initial clinical event was myelitis and optic neuritis in subsequent relapses, half of the patients had two or fewer events, no patients met criteria for other systemic disease. higher disability scales were observed in the group with positive AQP4, and lower in those receiving corticosteroids at baseline. Discussion and conclusions: This characterization is the first description of this disease in Colombia, our findings are similar to those obtained in other populations, some relevant data require further study.

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Espectro de neuromielitis óptica en Colombia, primera caracterización clínico imagenológica en tres centros de Bogotá

Devic’s disease, is also called neuromyelitis optica, it is a demyelinating autoimmune entity of the central nervous system, it is uncommon and it compromises the optic nerves and the spinal cord, causing loss of visual acuity and motor impairment. A clinical case of a 25-year-old woman with signs of sudden myelopathy and amaurosis is presented. It is fulfilling criteria for neuromyelitis optica. The treatment with methylprednisolone boluses started without any improvement, and Rituximab was applied with an early favorable response. Rituximab belongs to the group of anti-CD20 monoclonal antibodies, it was an important option in the absence of response to the first line of treatment.

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Enfermedad de Devic con respuesta favorable a rituximab: reporte de un caso

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Mielitis longitudinal asociada a lupus eritematoso sistémico

Hemophilia A is an X-linked inherited disease caused by mutations in the coagulation factor VIII F8 gene. It is considered a rare disease, as its prevalence is 26.6 per 100,000 live male births. Patients with hemophilia A have a relatively normal coagulation onset and amplification phases, and are able to form the initial platelet plug at the site of hemorrhage; but due to factor VIII deficiency, they are unable to generate a sufficient amount of thrombin on the platelet surface to stabilize the fibrin clot. In a male patient with unusual bleeding, a hemophilia A-type coagulation disorder should be ruled out, and blood tests such as a platelet count and prothrombin time (PT), which are usually normal, and an activated partial thromboplastin time (APTT), which is prolonged, should be requested immediately. For differential diagnosis with other coagulopathies, measurement of coagulation factors and correction tests are performed when there is suspicion of an inhibitor or acquired hemophilia. Affected patients may present mild, moderate or severe forms of the disease, depending on the plasma level of the factor. In Colombia and worldwide, hemophilia was recognized as a rare disease that represents a public health problem due to its highly specialized care, which increases the costs associated with health care, and affects the quality of life of patients and those around them, as well as representing a diagnostic challenge that requires constant updating, so that it can be treated effectively.

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Hemofilia A: una enfermedad huérfana

Presentamos el caso de una mujer de 53 anos, diagnosticada y tratada inicialmente para esclerosis multiple, quien presento varias recaidas y serias secuelas motoras, visuales y de la sensibilidad. Se llevaron a cabo estudios paraclinicos donde se informo anticuerpos antiacuaporina 4 positivos, anticuerpos antinucleares 1/80, anticardiolipinas y virus linfotropico humano I y II negativos. Se presenta en reunion de casos clinicos del Departamento de Medicina Interna de la augusta Universidad del Cauca, se hace un replanteamiento del diagnostico y se concluye un sindrome de Devic. El sindrome de Devic, actualmente denominado Desordenes del Espectro de la neuromielitis optica, es un desorden autoinmune, inflamatorio y desmielinizante del sistema nervioso central, que afecta principalmente al nervio optico bilateral, el quiasma optico y la medula espinal. Puede coexistir, ademas, con manifestaciones de vasculitis tipo lupus eritematoso sistemico o sindrome de anticuerpos antifosfolipidos. Su principal diagnostico diferencial es justamente la esclerosis multiple. DEVIC’S DISEASE (OPTIC NEUROMYELITIS) ABSTRACT We report the case of a woman of 53 years, initially diagnosed and treated for multiple sclerosis, who presented several relapses and serious motor, visual and sensitivity sequels. Paraclinical studies were performed, they reported antibodies acuaporine 4 positive, antinuclear antibodies 1/80, anti-cardiolipin antibodies and human T-lymphotropic virus I and II negative. It comes in clinical cases meeting developed in the Department of Internal Medicine of the august Univesity of Cauca, a rethinking of the diagnosis, which it concludes Devic’s syndrome. The Devic’s syndrome, currently known as Optic neuromyelitis Spectrum Disorders, is an autoimmune disorder, inflammatory and demyelinating central nervous system that primarily affects the bilateral optic nerve, optic chiasm and spinal cord. It can also coexist with vasculitis manifestations of systemic lupus erythematosus or antiphospholipid antibodies syndrome. Its main differential diagnosis is just multiple sclerosis.

https://revistamedicina.net/ojsanm/index.php/Medicina/article/download/111-8/951

Neuromielitis óptica (enfermedad de devic)

La hemofilia B o enfermedad de Christmas se diferencio por primera vez de la hemofilia A en 1947. Su forma clasica consiste en un trastorno hereditario de la coagulacion causado por mutaciones en el gen F9, que codifica para el factor IX de la coagulacion. Su herencia esta ligada al cromosoma X; las mujeres son portadoras, pero se manifiesta clinicamente en hombres, aunque se han descrito casos de mujeres portadoras sintomaticas. El factor IX activado es una proteina dependiente de vitamina K, sintetizada en el higado, que forma parte del complejo tenasa, cuya funcion es formar la mayor cantidad de trombina en el nuevo modelo de la coagulacion basado en celulas. De acuerdo a la actividad del factor IX, su deficiencia se puede clasificar en leve (5% a 40%), moderada (1% a 5%), o severa (<1%). Su diagnostico se realiza con la presencia de un TPT alargado que corrige con plasma normal y con la determinacion del nivel funcional del factor IX, y se confirma con el estudio molecular que demuestra la mutacion en el gen F9. Su diagnostico diferencial incluye otras patologias como la hemofilia A. El tratamiento con factor IX recombinante es el mas utilizado en la actualidad, pero se vienen desarrollando nuevas terapias con virus adeno-asociados recombinantes que prometen mejorar la calidad de vida para algunos pacientes afectados. La profilaxis juega un papel fundamental, en particular en los casos de enfermedad moderada y severa

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Julian Camilo Velásquez Paz

Papers

Neuromielitis óptica (enfermedad de devic)

Hemofilia B o enfermedad de Christmas