Neuromyelitis Optica and Immune Thrombocytopenic Purpura Treated With Rituximab in a Patient With Combined Neurologic and Hematologic Disorder: A Case Report.

Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune inflammatory demyelinating disease of the central nervous system affecting the optic nerves and spinal cord. Immune thrombocytopenia (ITP), on the other hand, is an autoimmune disorder characterized by a platelet count of <100 in the absence of any known condition that could be associated with thrombocytopenia. This case report focuses on a 56-year-old female presenting with the unique coexistence of NMOSD and ITP. A 56-year-old woman of Russian descent had a sudden onset of right eye blindness at the age of 24 and was diagnosed with multiple sclerosis. She developed petechial rashes on both lower extremities two weeks before consultation with no associated findings. Cranial MRI revealed multiple nodular and patchy areas of hyperintense signals on T2-weighted/fluid-attenuated inversion recovery without restricted diffusion. A thoracolumbar MRI revealed long segment foci of intramedullary cord non-enhancing abnormal hyperintense signal from T2 to T11. Cerebrospinal fluid aquaporin 4 IgG was negative. A complete blood count revealed platelets of 4 × 109/L, leading to the management of ITP. She was started on methylprednisolone 1 g/day for five days. Her platelet count improved eventually and rashes resolved. Rituximab treatment was initiated at a dose of 1 g on day 1 and day 15. On the 18th day of admission, the Expanded Disability Status Scale and functional score improved to 6.0 from 7.0 upon admission.

Visualization and analysis of mapping knowledge domains for optic neuritis: a bibliometric research from 2013 to 2022.

PURPOSE: To explore the global research trends, hotspots and frontiers of optic neuritis (ON) over the past decade through qualitative and quantitative analysis of bibliometrics. METHODS: Publications on ON from 2013 to 2022 were retrieved from Web of Science Core Collection (WoSCC). VOSviewer and CiteSpace were mainly used to facilitate bibliometric analysis and visualization. RESULTS: A total of 3027 papers were retrieved from peer-reviewed publications and the annual research output increased over time. Neurosciences neurology was the most published area. The USA was the most productive and influential country, and in the focus of international cooperation. University College London was the most productive organization and Charite Medical University of Berlin had the largest number of cooperating partners. Paul F contributed the largest number of publications and Wingerchuk DM ranked first among the co-cited authors. Multiple Sclerosis and Related Disorders was the most prolific journal publishing ON research. The most co-cited references mainly focused on the diagnostic criteria for neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS). The keywords formed the following four clusters: the pathophysiology of MS-ON; the autoantibody markers and diagnostic criteria of NMOSD-ON and myelin oligodendrocyte glycoprotein associated disorder-ON (MOGAD-ON); the epidemiology and clinical characteristics of ON; and the treatment of ON. CONCLUSION: This bibliometrics analysis showed a systematic view of the evolutionary process, research hotspots, and future directions of ON research. It can provide insights for ON research and valuable information for neuro-ophthalmologic specialists to evaluate research policies and promote international cooperation.

Diffuse Aspiration Bronchiolitis With Neuromyelitis Optica Spectrum Disorder.

Diffuse aspiration bronchiolitis (DAB) is a chronic inflammatory response of the bronchioles caused by repeated aspiration of foreign bodies. It is common among older individuals with dysphagia associated with neurological diseases or dementia. Here, we present the case of a woman in her 40s who was presumed to have developed DAB due to neuromyelitis optica spectrum disorder (NMOSD). There have been no reports of DAB due to NMOSD. The absence of obvious episodes of aspiration and the fact that pneumonia was the predominant symptom delayed the diagnosis despite the appearance of specific neurological abnormalities. DAB caused by neurological diseases of the brainstem should be considered in younger patients with diffuse centrilobular opacities, even if dysphagia is not obvious.

Sleep in multiple sclerosis and neuromyelitis optica spectrum disorder-the SEMN study.

PURPOSE: This study aimed to (1) evaluate in patients with multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) the presence of sleep disorders such as hypersomnia, fatigue, risk of apnea, and the presence of restless legs syndrome/Willis-Ekbom disease (RLS/WED); (2) evaluate quality of sleep in patients with MS and NMOSD; and (3) correlate them with clinical and imaging data. METHODS: The study was cross-sectional and was carried out in the sector of demyelinating diseases of the neurology service of HUGV-UFAM, Manaus, Brazil, from January 2017 to December 2020. RESULTS: Our sample consisted of 60 patients, 41 with MS and 19 with NMOSD. We found that patients with MS and NMOSD have poor sleep quality (65%) and hypersomnia (53% in MS; 47% in NMOSD), but low risk of apnea by STOP-BANG. The frequency of RLS/WE found was 14% in MS, and 5% in NMOSD. No correlation existed between sleep quality, number of relapses, and sleep quality for the Expanded Disability Status Scale (EDSS), i.e., fatigue/illness duration. CONCLUSION: Patients with MS and NMOSD have poor sleep quality, excessive sleepiness, and are at low risk for OSA, yet the frequency of RLS/WED is like that of the general population. There does not seem to be a significant difference between these sleep disorders in these demyelinating diseases of the CNS.

Neuromyelitis optica spectrum disorders associated with AQP4-positive-cancer-A case series.

Neuromyelitis optica spectrum disorders (NMOSD) are autoimmune, astrocytopathic diseases affecting the central nervous system(CNS), especially the central optic nerve and spinal cord. Aquaporin 4-immunoglobulin G (AQP4-IgG) is the dominant pathogenic antibody and can be detected in about 80% of patients with NMOSD. Although only a few cases were reported on NMOSD associated with cancer, they demonstrated the potential paraneoplastic link between cancer and NMOSD. In the present study, we report three NMOSD cases associated with cancer, which are teratoma and lung adenocarcinoma, teratoma, and transverse colon adenocarcinoma, respectively. Pathological staining of tumor sections revealed a high AQP4 expression. After tumor removal, all cases were stable and suffered no further relapses, which revealed the potential paraneoplastic mechanism between cancer and NMOSD. One of our patient's serum AQP4-IgG was transiently slightly elevated even though AQP4 was highly expressed in tumor cells, which indicates that AQP4 is not the main pathogenic antibody but might be induced by other underlying pathogenic antibody-antigen reactions.

Pain in neuromyelitis optic spectrum disorder.

BACKGROUND: Pain is a common symptom of neuromyelitis optica spectrum disorder (NMOSD), but there are relatively few studies on NMOSD pain. METHODS: We retrospectively reviewed the medical records of 145 patients with NMOSD admitted to our hospital between July 2016 and June 2019. RESULTS: The clinical characteristics of pain and factors related to NMOSD were analyzed, revealing that the incidence of pain in NMOSD is high and can be used for disease localization. CONCLUSION: Different types of pain occur at different stages of the disease, and serum aquaporin-4 antibody (AQP4-ab) positivity is an independent risk factor for NMOSD pain. Hormones and biological immune agents may also be effective in some cases.

Transverse myelitis associated with primary biliary cirrhosis: clinical, laboratory, and neuroradiological features.

PURPOSE: Only five patients diagnosed with transverse myelitis (TM) associated with primary biliary cirrhosis (PBC) have been reported in the literature to date. We report two additional patients with TM associated with PBC at our hospital and review all seven cases. MATERIALS AND METHODS: An association between neuromyelitis optic spectrum disease (NMOSD) and PBC is reported for the first time in one of our patients. The second patient was diagnosed with TM associated with PBC without Sjögren's syndrome (SS). A literature review was performed using the PubMed database. RESULTS: All patients diagnosed with TM associated with PBC were female with a median age of 53 years. TM was associated with SS in 71.4% of the patients. Complete TM and incomplete TM were diagnosed in 71.4% and 28.6% of the patients. The erythrocyte sedimentation rate was increased in 83.3% of patients. All patients were positive for anti-mitochondrial antibodies. Other autoantibodies, including anti-nuclear antibodies, rheumatoid factor, anti-SSA antibody, were detected in some patients. Cerebrospinal fluid analysis was abnormal in 83.3% of patients. The spinal cord lesions involved more than three vertebral segments in 85.7% of patients. Glucocorticoids were administered in 85.7% of patients, and good responses were observed. CONCLUSIONS: The association between TM and PBC may be missed by neurologists. More attention should be paid to the association between NMOSD and PBC. Most patients show SS and may experience relapse, and there is a good rationale for early commencement of immunosuppressive therapy.

Positive antithyroid antibody predicts severity of neuromyelitis optica spectrum disorder in children.

BACKGROUND: Neuromyelitis optica spectrum disease (NMOSD) is a rare autoimmune disease, which can coexist with autoimmune thyroid diseases (AITDS). There has been no report on the clinical characteristics of NMOSD in children with positive anti-thyroid antibodies (ATAbs). The aim of this study is to evaluate thyroid function and detect the difference between ATAbs seropositive and seronegative NMOSD children. METHODS: 108 children with a confirmed diagnosis of NMOSD who were admitted to Shengjing Hospital of China Medical University from January 2015 to September 2020 were enrolled and their thyroid functions were evaluated. They were divided into two groups by ATAbs abnormalities. Their demographic characteristics, clinical symptoms, laboratory and MRI scan results of the brain and spinal cord were assessed. RESULTS: ATAbs positive rate was higher in children with NMOSD when compared with healthy controls (P < 0.05). Most NMOSD children with positive ATAbs were female (P < 0.01). The expanded disability status scale (EDSS) score was significantly higher in the ATAbs positive group (P < 0.01). There were statistically significant differences for the incidence of bulbar area postrema symptoms, spinal cord symptoms, and fever of unknown origin of the first onset between the ATAbs positive and negative group (P < 0.05). The ANA and MOG antibody positive rate, longitudinally extensive transverse myelitis (LETM), and electroencephalogram (EEG) were significantly higher in ATAbs positive group (P < 0.05). CONCLUSION: MOG antibody-positive is a unique marker of aggravation of neurological dysfunction in ATAbs-positive NMOSD children. Monitoring ATAbs may play an important role in predicting the prognosis of NMOSD.

Concomitant abducens and facial nerve palsies: A rare presentation in anti-aquaporin-4 antibody-positive neuromyelitis optica.

Over the past decade, the discovery of disease-specific aquaporin-4 antibodies has led to a better understanding of the diverse spectrum of disorders that are associated with neuromyelitis optica. Brainstem manifestations have been increasingly recognized in this disease. However, multiple cranial nerve palsies as an initial presentation of neuromyelitis optica are uncommon. We report a rare case of anti-aquaporin-4 antibody-positive neuromyelitis optica that presented with unilateral abducens and facial nerve palsies. Notably, this case did not involve the optic nerve or the spinal cord. Diagnosing neuromyelitis optica that presents as an isolated acute brainstem syndrome is challenging, but the outcome may be devastating if the diagnosis is delayed.

Mirror-Image Lesions in Sequential Relapses of AQP4-Positive Neuromyelitis Optica Spectrum Disorder.

A 25 year-old Nigerian woman with aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder (NMOSD) presented with a 6 week history of nausea, vomiting, and refractory hiccups; as well as progressive lower extremity sensory loss, weakness, saddle anesthesia, and urinary incontinence. She had experienced her first NMOSD relapse seven years prior with bilateral lower extremity weakness and area postrema syndrome. After pulse steroids and plasma exchange she made a complete neurologic recovery and was started on azathioprine. An initial aquaporin-4 (AQP4) antibody ELISA test was positive, but three subsequent tests were negative and repeat MRI brain showed resolution of T2/FLAIR signal abnormalities with the exception of a right thalamic lesion and a left medullary lesion. Azathioprine was discontinued after 1 year and she was lost to follow-up. With her second relapse, she had new lesions in her left thalamus and right medulla-a mirror image of the thalamic and medullary lesions associated with her first relapse. In addition, an MRI spine demonstrated a new longitudinally extensive transverse myelitis from T7 to L1 with edematous expansion of the cord. Her serum AQP4 antibody test using a cell-based assay was strongly positive. NMOSD lesions are typically associated with brain regions with high density of the AQP4 channel. These areas include optic nerves, hypothalamus, and the diencephalic and brainstem tissues that surround the cerebral aqueduct and third and fourth ventricles. Previous studies have demonstrated that those with relapsing NMOSD have a predilection for recurrence in the same neuroanatomical region as their first episode. We hypothesize, using data from prior pathologic and epidemiologic studies, that mirror image lesions, where the same anatomic sites are affected on the contralateral side of the brain or spinal cord, may appear in subsequent attacks due to (i) areas of high remaining AQP4 density and/or (ii) local compromise of astrocyte or blood-brain barrier (BBB) function that persists after the initial inciting attack.

Impact of blood-brain barrier disruption on newly diagnosed neuromyelitis optica spectrum disorder symptoms and prognosis.

BACKGROUND: Blood-brain barrier (BBB) disruption and ensuing immune activation are central to the pathogenesis of central nervous system (CNS) inflammatory diseases. However, the influence of BBB permeability on the clinical signs and prognosis of newly diagnosed neuromyelitis optica spectrum disorder (NMOSD) has not been examined. We investigate the relationships between BBB permeability as showed by the albumin quotient (qalb) and clinical features of NMOSD. METHODS: Demographic and clinical data of 46 patients, including peripheral blood (PB) measures (serum albumin concentration and total leukocyte, neutrophil, total lymphocyte, CD4+ T cell, and CD8+ T cell counts, complement C3 and C4 concentrations, AQP4-IgG titer),autoimmune antibody titers (ANA/SSA/SSB/Ro-52), and cerebrospinal fluid (CSF) parameters (total leukocyte count, total protein and albumin concentrations, AQP4-IgG titer), were compared between qalb(BBB permeability) increased and normal groups. Complete measures were not obtained from 9 patients, but all other measures were included in the analysis. RESULTS: According to the calculated qalb, 15 patients with albumin quotient (qalb) > (4 + age/15) × 10-3 were assigned to the qalb increased (high BBB permeability) group (33%) and the remainder to the qalb normal group. Compared to the qalb normal group, the qalb increased group exhibited significantly lower serum albumin (P=0.001) and CD4+ T cell count (P=0.044), CD8+ T cell count (P=0.014), and total T lymphocyte count (P=0.016). The qalb increased group proved higher CSF albumin, total protein, leukocyte count, and IgG titer (all P=0.000). Optic neuritis and optic nerve abnormalities on magnetic resonance images were also more frequent in the qalb increased group (P=0.037 and 0.038, respectively). Patients in the qalb increased group showed significantly poorer treatment response as indicated by the lower post-treatment change in Expanded Disability Status Scale (EDSS) score compared to the qalb normal group. CONCLUSIONS: BBB permeability is strongly associated with the clinical features and treatment response of newly diagnosed NMOSD. The qalb is a potentially valuable indicator of disease severity and an index to guide personalized treatment.

Neuromyelitis optic with positive Anti-AQP4 and Anti-SSA/Ro antibody.

Neuromyelitis Optic (NMO) is an inflammatory disorder involving central nervous system which often co-exists with other autoimmune diseases such as Sjögren's syndrome (SS). NMO manifestation could precede or follow SS, but the role of anti-SSA in the pathogenesis of NMO remains unclear. We present a case of NMO with anti-AQP4 anti-SSA antibody positive. A-44-year-old female presented with right side weakness. The symptoms began with numbness that improved spontaneously. She also complained pain and dry sensations on her eyes. Schirmer test on her left eye, antinuclear antibody (ANA) and anti-SSA antibody were positive. Cervical MRI revealed intramedullary lesion on T2-weighted-image at C2-C5 level. She was diagnosed as NMO with positive anti-AQP4 and probable SS. She received 1g methylprednisolone for 5 days proceeded with mycophenolic acid. One-year observation showed clinical improvement. Systemic autoantibodies must substansially be evaluated in NMO. Comprehensive diagnosis and providing appropriate immuno-suppressant might prevent further disability and relapse.

Low vitamin D-25(OH) level in Indonesian multiple sclerosis and neuromyelitis optic patients.

BACKGROUND: Vitamin D deficiency is commonly found in multiple sclerosis (MS) and Neuromyelitis Optic (NMO) patients and can impair the immunological status. As a tropical country, Indonesia has a lot of sunshine throughout the year as a source of vitamin D. The aim of this study was to evaluate and compare the serum vitamin D-25(OH) level in Indonesian MS and NMO patients to healthy individuals. METHODS: A cross-sectional study was conducted in Dr. Cipto Mangunkusumo General Hospital Jakarta from November 2016 to May 2017. Forty-eight patients (29 MS and 19 NMO) and 33 healthy controls were enrolled. We assessed the dietary recall, vitamin D supplementation, sunshine exposure, medication, annual relapse rate, and Expanded Disability Status Scale (EDSS). Vitamin D level was measured using direct competitive chemiluminescence immunoassay. RESULTS: Vitamin D deficiency was found in 48.4% of MS and 56.2% of NMO patients. The serum vitamin D level in MS and NMO groups was not significantly different from the healthy controls. Vitamin D level was not associated with EDSS and the annual relapse rate. Positive significant correlation was observed between sunshine exposure and vitamin D level in healthy control, but not evident in MS and NMO groups. MS and NMO subjects who still treated with corticosteroid had lower vitamin D level. CONCLUSION: Vitamin D deficiency is commonly found in Indonesian MS and NMO patients, but not associated with EDSS and annual relapse rate. Despite living in a country with adequate sunshine exposure, the physician should anticipate low serum vitamin D level, especially in MS or NMO patients who received corticosteroid.

[Clinical and immunological characteristics and predicted factors of vision outcome in patients with acute severe bilateral optic neuritis].

Objective: To analyze the clinical and immunological characteristics of acute severe bilateral optic neuritis, and to explore the predictive factors of vision outcome and relapse so as to save visual function and avoid or alleviate vision disability. Methods: Forty-eight inpatients confirmed with acute severe bilateral optic neuritis from January 2013 to June 2015 were included and followed up. The clinical features, immunological findings, optic nerve imaging, visual function outcome and predictors of relapse were statistically analyzed. Results: Acute severe bilateral optic neuritis accounted for 7.3% of the total number of optic neuritis in the same period. There were 35 cases (72.9%) with monophasic course, and 13 cases (27.1%) with recurrence or other central nervous system involvement during the follow-up period; 11 (22.9%) in 48 patients with positive AQP4-IgG; AQP4-IgG-positive patients had a higher recurrence rate (P<0.001) and poorer visual function prognosis (P=0.034) than antibody-negative patients; the baseline visual acuity (P=0.004), early treatment response (P=0.012) and number of involved optic nerve segments (P=0.016) were associated with end point visual function. Positive AQP4-IgG(OR 13.486, 95% CI 1.971-16.263)and combining with other autoimmune antibodies (OR 5.591, 95% CI 1.502-15.621)were independently associated with relapse. Conclusions: Acute severe bilateral optic neuritis is not unusual and may cause blindness or visual disability. The positive rate of AQP4-IgG and the recurrence rate of the disease are low in our study. The necessity for long-term immunotherapy requires individual consideration. The baseline visual acuity, involved segment number of optic nerve and response to early treatment are associated with prognosis of visual function. Patients with AQP4-IgG positive and other autoimmune antibodies are easy to relapse. Whether the antibody-negative bilateral optic neuritis is a heterogeneous disease and the relationship with classic NMO or NMOSD deserve further research.

Clinical characteristics and follow-up study of aquaporin-4 antibody negative binocular optic neuritis / 中国医师进修杂志

Objective To investigate the clinical and imaging features of the aquaporin-4 (AQP4)antibody-negative binocular optic neuritis and to analyze the predictive factors of visual function outcome.Methods Fifty-eight patients with AQP4-negative binocular optic neuritis were reviewed and followed up from January 2014 to December 2015.Patients at baseline and at the end of follow-up were evaluated for visual function and neurological examination.All patients underwent optic nerve and brain MRI, cerebrospinal fluid and routine laboratory tests.Results AQP4 antibody-negative binocular optic neuritis accounted for 9.4%(58/615)of the total optic neuritis in the same period.At baseline, 99 eyes (85.3%,99/116)had best corrected visual acuity<0.1.At the end of follow-up, 31 eyes(26.7%,31/116) had best corrected visual acuity < 0.1. There were 43 cases (74.1%, 43/58) with multi-segment involvement of optic nerve at the baseline.Baseline visual acuity(P=0.005), early treatment response (P=0.011), and segment numbers of optic nerve involvement(P=0.025)were independently associated with end-point outcome of visual function.Forty-nine patients(84.5%,49/58)showed monophasic course in (3.1 ± 0.9) years follow-up period, 7 cases (12.1%, 7/58) had recurrence, and 2 cases (3.4%, 2/58) converted to neuromyelitis optic spectrum disorder (NMOSD). Conclusions AQP4 antibody-negative binocular optic neuritis is common and the recovery of visual function is not satisfied. Baseline visual function and the length of optic lesion in MRI is related to the end-point prognosis. Most patients performs the single phase course during the follow-up period.

Neuromyelitis optica spectrum disease characteristics in Isfahan, Iran: A cross-sectional study.

BACKGROUND: Neuromyelitis optica spectrum disease (NMOSD) is a severe autoimmune demyelinating disorder of the central nervous system that throughout epidemiological data, it has not been completely determined. The aim of this study was to assess characteristics of NMOSD patients in Isfahan as one of the most prevalent cities for multiple sclerosis in Iran. MATERIALS AND METHODS: Forty-five patients diagnosed as neuromyelitis optica (NMO) disease through 5 years enrolled in this study. Demographics and characteristics of disease such as Expanded Disability Status Scale (EDSS) score, disease duration, clinical symptoms, laboratory data, and magnetic resonance imaging findings (including T1, T2, and flair protocols) were recorded. NMO-immunoglobulin G serology assay was done in all of the patients by ELISA test. RESULTS: Female to male ratio was 5.4:1. The mean age of disease onset was 29.8 ± 11.2 years. NMO antibody was positive in 24.4% of patients. The presenting symptoms were optic neuritis (55.5%), transverse myelitis (40%), and brainstem symptoms (4.5%). The interval between the first and second attack was 19.28 ± 31.27 months (range: 1 month to 17 years). The mean EDSS score of the patients was 2.8 ± 2.25. Frequency of long-extending cervical plaque was higher among men than women (85.7% vs. 57.9%). CONCLUSION: Based on this study, the mean age of NMOSD onset among Isfahan population was considerably lower than other studies, and there was higher frequency of long-extending cervical lesion among male patients which needs more consideration in further studies.

Espectro de neuromielitis óptica en Colombia, primera caracterización clínico imagenológica en tres centros de Bogotá / Spectrum of optic neuromyelitis in colombia, first characterization clinical and radiological in three centers of Bogotá

Introducción: La neuromielitis óptica, es un síndrome clínico caracterizado por la asociación de mielitis transversa y neuritis óptica, hoy en día es reconocida como una enfermedad cuya fisiopatología, clínica, hallazgos en imágenes diagnósticas de laboratorio y tratamiento son específicos. Objetivo: describir las características clínicas, métodos diagnósticos y tratamiento de los pacientes con neuromielitis óptica (NMO) en tres centros asistenciales de cuarto nivel de la ciudad de Bogotá. Materiales y métodos: Diseño: se realizó un estudio de tipo serie de casos. Participantes: se incluyeron casos consecutivos de pacientes de cualquier género, entre los 19 y los 48 años, clasificados en dos grupos según los criterios del Consenso Internacional para el Diagnóstico de Neuromielitis óptica 2015, NMOSD con AQP4-IgG positivos, y NMOSD con AQP4-IgG negativos. Los pacientes fueron reclutados en tres centros hospitalarios, desde junio de 2013 a mayo de 2015. Análisis estadístico: la descripción de las variables se realizó por frecuencias absolutas y relativas, los análisis se realizaron en el paquete estadístico STATA 13®. Resultados: participaron 22 pacientes, con una edad mediana de 36 años, la mayoría mujeres, la mediana de inicio de síntomas fue de 31 años (RIC 24-39). La técnica para el diagnóstico más utilizada fue IFI, la clínica más frecuente del evento inicial fue mielitis y de neuritis óptica en las recaídas posteriores, la mitad de los pacientes presentaron dos o menos eventos, ningún paciente cumplió criterios para otra enfermedad sistémica. Se observaron escalas de discapacidad mas altas en el grupo con AQP4 positivos, y mas bajas en los que recibieron corticoide al inicio. Discusión y conclusiones: esta caracterización constituye la primera descripción de esta enfermedad en Colombia, nuestros hallazgos son similares a los obtenidos en otras poblaciones, algunos datos relevantes requieren más estudios.

Introducción: 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.

Cerebrospinal fluid analysis in the context of CNS demyelinating diseases / Analise do liquido cefalorraquiano no contexto das doencas desmielinizantes do SNC

The central nervous system demyelinating diseases are a group of disorders with different etiologies, characterized by inflammatory lesions that are associated with loss of myelin and eventually axonal damage. In this group the most studied ones are multiple sclerosis (MS), neuromyelitis optic (NMO) and acute disseminated encephalomyelitis (ADEM). The cerebrospinal fluid is essential to differentiate between these different syndromes and to define multiple sclerosis, helping to assess the probability of Clinical Isolated Syndrome turn into multiple sclerosis.

As doenças desmielinizantes do sistema nervoso central são um grupo de desordens de diferentes etiologias, caracterizadas por lesões inflamatórias associadas a perda da mielina e eventualmente dano axonal. Neste grupo de doenças, as mais estudadas são a esclerose múltipla (EM), a neuromielite óptica e a encefalomielite aguda disseminada. O estudo de liquido cefalorraquiano é essencial para o diagnóstico diferencial entre as diferentes síndromes e para a definição de EM, ajudando a estimar a probabilidade da transformação da síndrome clínica isolada em EM.

Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report / Anticorpo da neuromielite óptica em neuropatia óptica hereditária de Leber: relato de caso

Neuromyelitis optica antibody (or aquaporin-4 antibody) is a well stablished serum marker associated to high-risk neuromyelitis optica syndrome that presents as an inflammatory demyelinating disease characterized by the occurrence of bilateral and simultaneous optic neuritis without complete visual recovery or it occurs as an isolated episode of transverse myelitis accompanied by longitudinally extensive spinal cord lesions. On the other hand, Leber hereditary optic neuropathy is a primarily hereditary disorder that affects all tissues of the body and its clinical presentation is tissue-specific for the optic nerve and, eventually, it might reach the spinal cord. Overlapping clinical features of neuromyelitis optica and Leber hereditary optic neuropathy may suggest common target organ diseases. The case report described herein emphasizes the coexistence of serum markers of both diseases, and suggests that further investigation of this challenging clinical presentation is warranted to confirm or rule out this association.

Anticorpo da neuromielite óptica (ou anticorpo aquaporina-4) é um marcador sorológico bem estabelecido associado à síndrome de alto risco para neuromielite óptica, doença inflamatória desmielinizante, caracterizada por ocorrência bilateral, simultânea de neurite óptica ou por episódio isolado de mielite transversa com achado de lesões espinais longitudinais extensas. Por outro lado, a neuropatia óptica hereditária de Leber é uma doença primariamente hereditária que afeta todos os tecidos do corpo e sua apresentação clínica envolve o nervo óptico e, eventualmente, a medula espinal. Aspectos clínicos comuns sugerem que neuromielite óptica e neuropatia óptica hereditária de Leber possam atingir os mesmos órgãos. O caso descrito enfatiza a coexistência de marcadores sorológicos das duas doenças e sugere a necessidade de investigação futura desta apresentação clínica atípica para confirmar ou não esta associação.