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Systemic vasculitis is a group of rare diseases that share an essential characteristic: inflammation of blood vessel walls. This injury occurs during the disease course, but specific features vary for each entity. In this paper, we will address relevant aspects of the newest monogenic mutation vasculitis, such as deficiency of adenosine deaminase 2 (ADA2) and VEXAS syndrome (UBA1), and other relevant vasculitis, such as Cogan syndrome and Susac syndrome that may share some similarities with them.

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AIMS: Our objective was to study the vascular smooth muscle cells (VSMC) osteoblastic transdifferentiation in AGE exposed cells or those from diabetic animals, and its response to metformin treatment. METHODS: VSMC were obtained from non-diabetic rats, grown with or without AGE; while VSMC of in vivo-ex vivo studies were obtained from non-diabetic control animals (C), diabetic (D), C treated with metformin (M) and D treated with metformin (D-M). We studied the osteoblastic differentiation by evaluating alkaline phosphatase (ALP), type I collagen (Col) and mineral deposit. RESULTS: In vitro, AGE increased proliferation, migration, and osteoblastic differentiation of VSMC. Metformin cotreatment prevented the AGE induced proliferation and migration. Both AGE and metformin stimulated the expression of ALP and Col. AGE induced mineralization was prevented by metformin. VSMC from D expressed a higher production of Col and ALP. Those from D-M showed an ALP increase vs C and M, and a partial decrease vs D. Cultured in osteogenic medium, ALP, Col and mineralization increased in D vs C, remained unchanged in M, and were prevented in D-M animals. CONCLUSION: Both AGE and DM favor VSMC differentiation towards the osteogenic phenotype and this effect can be prevented by metformin.

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Abstract Background: Livedoid vasculopathy (LV) manifests as ulcers and atrophic white scars on the lower extremities. The main known etiopathogenesis is hypercoagulability with thrombus formation, followed by inflammation. Thrombophilia, collagen and myeloproliferative diseases may induce LV, but the idiopathic (primary) form predominates. Bartonella spp. may cause intra-endothelial infection and skin manifestations caused by these bacteria may be diverse, including leukocytoclastic vasculitis and ulcers. Objective: The aim of this study was to investigate the presence of bacteremia by Bartonella spp. in patients with difficult-to-control chronic ulcers diagnosed as primary LV. Methods: Questionnaires and molecular tests (conventional PCR, nested PCR and real-time PCR) were applied and liquid and solid cultures were performed in the blood samples and blood clot of 16 LV patients and 32 healthy volunteers. Results: Bartonella henselae DNA was detected in 25% of LV patients and in 12.5% of control subjects but failed to reach statistically significant differences (p = 0.413). Study limitations: Due to the rarity of primary LV, the number of patients studied was small and there was greater exposure of the control group to risk factors for Bartonella spp. infection. Conclusion: Although there was no statistically significant difference between the groups, the DNA of B. henselae was detected in one of every four patients, which reinforces the need to investigate Bartonella spp. in patients with primary LV.

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BACKGROUND: Livedoid vasculopathy (LV) manifests as ulcers and atrophic white scars on the lower extremities. The main known etiopathogenesis is hypercoagulability with thrombus formation, followed by inflammation. Thrombophilia, collagen and myeloproliferative diseases may induce LV, but the idiopathic (primary) form predominates. Bartonella spp. may cause intra-endothelial infection and skin manifestations caused by these bacteria may be diverse, including leukocytoclastic vasculitis and ulcers. OBJECTIVE: The aim of this study was to investigate the presence of bacteremia by Bartonella spp. in patients with difficult-to-control chronic ulcers diagnosed as primary LV. METHODS: Questionnaires and molecular tests (conventional PCR, nested PCR and real-time PCR) were applied and liquid and solid cultures were performed in the blood samples and blood clot of 16 LV patients and 32 healthy volunteers. RESULTS: Bartonella henselae DNA was detected in 25% of LV patients and in 12.5% of control subjects but failed to reach statistically significant differences (p = 0.413). STUDY LIMITATIONS: Due to the rarity of primary LV, the number of patients studied was small and there was greater exposure of the control group to risk factors for Bartonella spp. CONCLUSION: Although there was no statistically significant difference between the groups, the DNA of B. henselae was detected in one of every four patients, which reinforces the need to investigate Bartonella spp. in patients with primary LV.

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Adams-Oliver syndrome (AOS) is diagnosed in presence of aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). The autosomal recessive (AR) DOCK6-related form of AOS is most often associated with a severe phenotype including also central nervous system and ocular abnormalities. We report a sister and brother with different expression of the phenotype. Both were compound heterozygous pathogenic variants in the DOCK6 gene, including a heterozygous c.5939+2T > C intronic variant that was maternally inherited, and a heterozygous deletion of exons 10 to 21 that was paternally inherited. The sister had microcephaly, periventricular calcifications, minor retinal vasculopathy, and mild impaired neurodevelopment, but only very subtle limb abnormalities and no ACC. Her brother showed a classical DOCK6-related AOS phenotype, including a severe bilateral peripheral ischemic retinopathy. From a review of 22 molecularly confirmed cases with DOCK6-related AOS with ophthalmic examination, we found that 16 of them had retinal vascular pathology (72.7%), confirming as the major ocular anomaly. Documented intrafamilial variability in our family and the evidence revised from previous reports, confirm that AR DOCK6-related AOS expressivity can produce a "milder" phenotype without ACC or TTLD, which could be underdiagnosed in simplex cases because it is difficult to recognize out of a familial context. Therefore, in order to know its real magnitude is required the future inclusion of DOCK6 gene in NGS panels directed to the study of simplex cases of patients with microcephaly, periventricular calcifications, retinal vasculopathy, and/or cardiovascular defects.

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BACKGROUND: Susac syndrome (SS) is a rare endotheliopathy with an estimated prevalence of 0.14-0.024 per 100,000. It is an important differential diagnosis in demyelinating disorders. There are few case series and no large randomized controlled trials, and most reports come from developed countries. We report six cases of SS in three centers in Brazil and discuss management challenges in emergent countries. METHODS: This is a retrospective case series of patients diagnosed with SS in three medical centers in Brazil between April 2018 and July 2021. The European Susac consortium (EuSaC) criteria were used for diagnosis of SS. Demographic data and clinical interventions were described and outcomes were assessed subjectively and by applying the modified Rankin Scale (mRS) on last follow-up. RESULTS: Six patients were diagnosed with SS (3 males, 3 females). Mean age at presentation was 36 years (range 17 to 54). The most common initial symptom was confusion, followed by visual impairment and hearing loss. Characteristic snowball lesions on magnetic resonance imaging (MRI) were present in four patients (66%). Retinal artery abnormalities were present in half (3/6) of patients, and sensorineural hearing loss was present in four patients (66%). Outcome was favorable (mRS ≤ 2) in five patients (86%). Patients treated early had a more favorable outcome. CONCLUSION: Emergent countries face challenges in the diagnosis and management of patients with SS, such as access to advanced tests (fluorescein angiography, serial MRI) and treatment drugs (rituximab, mycophenolate). Further research should consider particularities of patients with SS in emergent countries.

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We report 2 cases of an aggressive choroidal neovascularization phenotype. A 77-year-old hypertensive woman, with a 4-year history of visual loss in her left eye, due to vitreous hemorrhage associated with a dome-shaped mass lesion underwent pars plana vitrectomy. An extensive subretinal hemorrhage was found, associated with extensive subretinal fibrosis, which was treated with endophotocoagulation and intravitreal injection of anti-VEGF. Best-corrected visual acuity after surgery was light perception. A 74-year-old woman with a 4-year history of treatment for choroidal neovascularization in both eyes presented with an extensive subretinal hemorrhage associated with exudation in the temporal peripheral retina. Lesions became larger despite monthly intravitreal anti-VEGF injections (14 injections) and verteporfin photodynamic therapy in both eyes. Throughout the years, the choroidal neovascular lesion continued to enlarge until it developed a severe vitreous hemorrhage. The patient rejected treatment and ended up with no light perception at the end of the follow-up (8 years). A rare severe choroidal neovascularization phenotype is presented here and would be considered to be at the aggressive extreme of the spectrum of a neovascular age-related macular degeneration or polypoidal choroidal vasculopathy that presents massive hemorrhage and exudation as much as in the posterior pole as in the peripheral retina.

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Livedoid vasculopathy (LV) is a cutaneous manifestation of several diseases that lead to noninflammatory thrombosis of dermal vessels. We report the case of a 26-year-old female with a 4 years and 8 months-old history of diagnosis of LV and a non-healing ulcer of more than a year of evolution. Because of refractory response to standard care, low-pressure hyperbaric oxygen (LPHBOT) was added to the therapeutic scheme (azathiopine 2.5 mg/kg, folic acid and acetylsalicylic acid). After 12 sessions of LHBOT (60 min, 1.45 ATA ≈ 100% O2), ulcers achieved complete healing with significant pain relief and no recurrence was present over 6 months. More studies are necessary to determine the effectiveness of HBOT for LV treatment.

La vasculopatía livedoide (VL) es una manifestación cutánea de varias enfermedades que conducen a una trombosis no inflamatoria de los vasos dérmicos. Se presenta el caso de una mujer de 26 años con antecedente de diagnóstico de vasculopatía livedoide de 4 años y 8 meses, además de una úlcera no cicatrizante de más de un año de evolución. Debido a la respuesta refractaria a la atención estándar, se añadió oxígeno hiperbárico a baja presión (LPHBOT) al esquema terapéutico (azatriopina 2.5 mg/kg, ácido fólico y ácido acetilsalicílico). Después de 12 sesiones de LHBOT (60 min, 1,45 ATA ≈ 100% O2), las úlceras tuvieron una curación completa con un alivio significativo del dolor y no hubo recurrencia durante 16 meses. Se necesitan más estudios para determinar la eficacia de TOHB para el tratamiento del VL.

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Systemic sclerosis (SSc) is an autoimmune disease with three pathogenic hallmarks, i.e., inflammation, vasculopathy, and fibrosis. A wide plethora of animal models have been developed to address the complex pathophysiology and for the development of possible anti-fibrotic treatments. However, no current model comprises all three pathological mechanisms of the disease. To highlight the lack of a complete model, a review of some of the most widely used animal models for SSc was performed. In addition, to date, no model has accomplished the recreation of primary or secondary Raynaud's phenomenon, a key feature in SSc. In humans, nailfold capillaroscopy (NFC) has been used to evaluate secondary Raynaud's phenomenon and microvasculature changes in SSc. Being a non-invasive technique, it is widely used both in clinical studies and as a tool for clinical evaluation. Because of this, its potential use in animal models has been neglected. We evaluated NFC in guinea pigs to investigate the possibility of applying this technique to study microcirculation in the nailfold of animal models and in the future, development of an animal model for Raynaud's phenomenon. The applications are not only to elucidate the pathophysiological mechanisms of vasculopathy but can also be used in the development of novel treatment options.

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Abstract Livedoid vasculopathy (LV) is a cutaneous manifestation of several diseases that lead to non-inflammatory thrombosis of dermal vessels. We report the case of a 26-year-old female with a 4 years and 8 months-old history of diagnosis of LV and a non-healing ulcer of more than a year of evolution. Because of refractory response to standard care, low-pressure hyperbaric oxygen (LPHBOT) was added to the therapeutic scheme (azathiopine 2.5 mg/kg, folic acid and acetylsalicylic acid). After 12 sessions of LHBOT (60 min, 1.45 ATA ≈100% O2), ulcers achieved complete healing with significant pain relief and no recurrence was present over 6 months. More studies are necessary to determine the effectiveness of HBOT for LV treatment.

Resumen La vasculopatía livedoide (VL) es una manifestación cutánea de varias enfermedades que conducen a una trom bosis no inflamatoria de los vasos dérmicos. Se presenta el caso de una mujer de 26 años con antecedente de diagnóstico de vasculopatía livedoide de 4 años y 8 meses, además de una úlcera no cicatrizante de más de un año de evolución. Debido a la respuesta refractaria a la atención estándar, se añadió oxígeno hiperbárico a baja presión (LPHBOT) al esquema terapéutico (azatriopina 2.5 mg/kg, ácido fólico y ácido acetilsalicílico). Después de 12 sesiones de LHBOT (60 min, 1,45 ATA ≈100% O2), las úlceras tuvieron una curación completa con un alivio significativo del dolor y no hubo recurrencia durante 16 meses. Se necesitan más estudios para determinar la eficacia de TOHB para el tratamiento del VL.

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BACKGROUND: To describe the epidemiological traits, clinical characteristics, diagnostic procedures, therapeutic interventions and evolution in a large series of patients with diagnosis of Eales' disease. METHODS: A clinical retrospective review of patients with Eales' disease, evaluated and treated between April 2009 and April 2018, with a 1-year minimum follow-up. Thirty patients (59 eyes), were included. Age, sex, laboratory results (CBC, glycemia, protein electrophoresis, ACE levels) immunological profile and a Quantiferon-TB Gold Plus test were recorded. The patients were divided into groups according to their evolution, medical or surgical treatment, and visual outcomes. RESULTS: Seventeen male patients and 13 female patients were included, and their ages ranged from 14 to 35 years. The Quantiferon-TB Gold Plus test was positive in 25 patients. Twenty-eight patients had unilateral vitreous hemorrhage, 10 of whom presented with vasculitis and non-perfusion areas in the contralateral eye, 9 presented contralateral peripheral neovascularization and 9 had contralateral fibrovascular proliferation. The remaining 2 patients presented with a rhegmatogenous retinal detachment. In 6 patients, conservative treatment with intravitreal anti-VEGF injections and photocoagulation was performed after the hemorrhage cleared. Twenty-two patients, required vitrectomy, with good visual outcomes. Macular edema was found in 16 eyes, which responded to periocular and/or systemic corticosteroid therapy, except for 9 eyes that required intravitreal bevacizumab, with complete resolution in 7 eyes and partial resolution in 2 eyes. CONCLUSIONS: Eales' disease is a pathology of significant prevalence in our country. The distribution according to sex, tends to be equivalent. The etiology, even when it is not specifically determined, according to laboratory tests, confirms the probable immunologic response in the presence of Mycobacterium tuberculosis antigens. This is still a diagnosis of exclusion, and therefore, it is advisable to perform a complete laboratory work-up in each case. Timely application of laser and other medical treatments, help to avoid progression to more advanced stages and their complications. The surgical treatment of vitrectomy for vitreous hemorrhage, and/or tractional vitreous detachment yields good primary anatomical and functional outcomes. Secondary macular edema responds to periocular and intravitreal corticosteroids, and in refractory cases, the use of anti-VEGF therapy leads to an effective resolution.

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PURPOSE: The aim of this article is to do a comprehensive literature review about the current understandings of the pachychoroid disease spectrum, describing its multimodal imaging analysis, pathophysiology, differential diagnosis, and current types of management. METHODS: This comprehensive literature review was performed based on a search on the PubMed database, of relevant pachychoroid published papers according to our current knowledge. DISCUSSION: The pachychoroid disease spectrum, according to some authors, includes the following: pachychoroid pigment epitheliopathy (PPE), central serous chorioretinopathy (CSC), pachychoroid neovasculopathy (PNV), polypoidal choroidal vasculopathy (PCV)/aneurysmal type 1 neovascularization (AT1), and more recently focal choroidal excavation (FCE) and peripapillary pachychoroid syndrome (PPS). Each one of these entities will be described and discussed in this article. CONCLUSION: Significant advances in multimodal imaging have enabled a better understanding of the typical choroidal changes in pachychoroid disease spectrum. The clinical knowledge and managing options about this disease significantly increased in the last years. However, it is still unclear why some eyes with typical pachychoroid disease phenotype show no evidence of RPE damage and subretinal fluid (uncomplicated pachychoroid) while others present progressive tissue damage, neovascularization, and atrophy.

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Moyamoya disease is a chronic and unusual cerebrovascular disorder characterized by progressive stenosis and occlusion of the distal portions of internal carotid arteries and its main branches within the circle of Willis. Posterior circulation (vertebral and basilar arteries) may also be affected; however, this presentation is uncommon. As well as stenosis of the terminal portion of intracranial arteries, it is seen the development of a network of collateral vessels abnormally dilated at the base of the brain with an aspect of a "puff of smoke," whose term in Japanese is described as "moyamoya." The present study aims to report two consecutive cases of patients who presented to our service with different clinical manifestations. Further investigation with digital subtraction angiography showed a moyamoya pattern.

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INTRODUCTION: Polypoidal choroidal vasculopathy is characterized by multiple and recurrent serosanguineous detachments of the retinal pigment epithelium and aneurysmal protrusions in the choroidal vessels. Different therapeutic options have been proposed, including anti-vascular endothelial growth factor drugs and photodynamic therapy. Controversy exists as to whether combination therapy is superior to anti-vascular endothelial factor drugs alone. METHODS: We searched Epistemonikos, the largest database of systematic reviews in health, maintained by screening multiple sources of information, including MEDLINE/PubMed, EMBASE, and Cochrane. We extracted data from the identified reviews, analyzed the data from the primary studies, performed a meta-analysis, and prepared a summary table of the results using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) method. RESULTS: We identified three systematic reviews that together included twelve primary studies. Of these, two were randomized trials, and only one of them was included in the analysis. CONCLUSIONS: The addition of photodynamic therapy may result in little or no difference in the incidence of retinal hemorrhage and visual acuity gain at six months (low certainty of evidence). On the other hand, the combination of photodynamic therapy and anti-vascular endothelial growth factor drugs compared to anti-vascular endothelial growth factor alone is likely to increase polyp regression at three and six months and reduce central retinal thickness at six months.

INTRODUCCIÓN: La vasculopatía coroidea polipoidea es una enfermedad caracterizada por la aparición de múltiples y recurrentes desprendimientos serosanguíneos del epitelio pigmentario retinal, junto con la presencia de protuberancias aneurismáticas en los vasos coroideos. Se han propuesto diferentes opciones terapéuticas, incluyendo los fármacos anti factor de crecimiento vascular endotelial y la terapia fotodinámica. Existe controversia sobre si la terapia combinada es superior a la monoterapia con anti factor de crecimiento vascular endotelial. MÉTODOS: Realizamos una búsqueda en Epistemonikos, la mayor base de datos de revisiones sistemáticas en salud, la cual es mantenida mediante el tamizaje de múltiples fuentes de información, incluyendo MEDLINE/PubMed, EMBASE, Cochrane, entre otras. Extrajimos los datos desde las revisiones identificadas, analizamos los datos de los estudios primarios, realizamos un metanálisis y preparamos una tabla de resumen de los resultados utilizando el método Grading of Recommendations Assessment, Development and Evaluation, GRADE. RESULTADOS: Identificamos tres revisiones sistemáticas que, en conjunto, incluyeron doce estudios primarios. De ellos, dos corresponden a ensayos aleatorizados. Solo se incluyó un ensayo aleatorizado en el análisis del presente trabajo. CONCLUSIONES: La adición de terapia fotodinámica podría resultar en poca o nula diferencia sobre la incidencia de hemorragia retinal y ganancia de agudeza visual a los seis meses (certeza de la evidencia baja). Por otro lado, adicionar terapia fotodinámica a anti factor de crecimiento vascular endotelial comparada con la monoterapia con anti factor de crecimiento vascular endotelial, probablemente aumente la regresión de pólipos a los tres y seis meses, y reduzca el grosor central retinal a los seis meses.

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Systemic Sclerosis (SSc) is an autoimmune disease marked by dysregulation of the immune system, tissue fibrosis and dysfunction of the vasculature. Vascular damage, remodeling and inadequate endothelial repair are hallmarks of the disease. Since early stages of SSc, damage and apoptosis of endothelial cells (ECs) can lead to perivascular inflammation, oxidative stress and tissue hypoxia, resulting in multiple clinical manifestations. Raynaud's phenomenon, edematous puffy hands, digital ulcers, pulmonary artery hypertension, erectile dysfunction, scleroderma renal crisis and heart involvement severely affect quality of life and survival. Understanding pathogenic aspects and biomarkers that reflect endothelial damage in SSc is essential to guide therapeutic interventions. Treatment approaches described for SSc-associated vasculopathy include pharmacological options to improve blood flow and tissue perfusion and, more recently, cellular therapy to enhance endothelial repair, promote angiogenesis and heal injuries. This mini-review examines the current knowledge on cellular and molecular aspects of SSc vasculopathy, as well as established and developing therapeutic approaches for improving the vascular compartment.

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COVID-19 generates a complex systemic inflammatory response that can lead to death due to wide macrophage activation, endothelial damage, and coagulation in critically ill patients. SARS-CoV-2-induced lung injury due to inflammatory mediated thrombosis could be similar to the livedoid vasculopathy in the skin, supporting a translational comparison of these clinical settings. In this article, we discuss anticoagulation, suppression of inflammatory response, and hyperbaric oxygen therapy in the context of severe COVID-19 and livedoid vasculopathy.

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Cardiac allograft vasculopathy (CAV) after heart transplantation is a fibro-proliferative process affecting coronary arteries of the graft in up to 46.8% of the cases during the first 10 years post-transplantation. It is one of the main causes of graft loss and death. Due to graft denervation, CAV causing ischemia is usually clinically silent until the disease is far advanced. In this study, we compared coronary angiography with intravascular ultrasound (IVUS) for CAV detection. OUTCOMES: A total of 114 patients with HTx who underwent coronary angiography and IVUS between March 2018 and March 2019 were included. Mean follow-up was 87 ± 61 month. Lesions documented by coronary angiography were found in only 27 (24%) of the 114 patients. IVUS revealed ISHLT CAV 0 in 87 patients (76.3%); ISHLT CAV1 in 15 (13,1%) and ISHLT CAV2 and CAV3 in 6 patients (5.2%) each. Among 328 IVUS images, maximum intimal thickness (MIT) >0.5 mm was obtained in 60 vessels (52%) with 24 patients having three-vessel and 19 two-vessel involvement. CONCLUSION: As an adjunct to conventional coronary angiography to detect angiographically silent CAV in heart transplant patients, IVUS is a reliable and safe technique with a low complication rate. Large multicenter studies are necessary to confirm these findings and the potential long-term clinical impact of early detection in clinically and angiographically silent phase.

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Retinal vessel tortuosity has been used in the diagnosis and management of different clinical situations. Notwithstanding, basic concepts, standards and tools of measurement, reliable normative data and clinical applications have many gaps or points of divergence. In this review we discuss triggering causes of retinal vessel tortuosity and resources used to assess and quantify it, as well as current limitations.

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Neurofibromatosis is a disease caused by a mutation on chromosome 17, and was described by Friedrich Daniel von Recklinghausen in 1882. It is characterized by the appearance of benign tumors in different organs that can occasionally turn malignant. Four types of neurofibromatosis are described; being type 1 the most frequent, produced by mutations in NF1 gene inhibiting neurofibromin, and in a small percentage of cases by 17q11 microdeletion. In 50% of cases, it is autosomal dominant and the penetrance is 100%. Its prevalence is 1/3000 births and affects both sexes equally. The diagnosis is done by the presence of characteristic signs and can be corroborated through genetic studies. It usually manifests in childhood and involves skin issues, formation of multiple neurofibromas, gliomas of the optic pathway, hamartomas of the iris, bone malformations, arterial hypertension, vascular alterations, intracranial and peripheral nerve sheath tumors, seizures, hydrocephalus, cognitive deficits and learning difficulties. Vascular disease is a rare complication that is usually asymptomatic and can affect the vessels that go from the proximal aorta to small arterioles, including arterial stenosis, aneurysms and arteriovenous malformations. The prognosis is usually good, with neoplasms and vascular diseases being the cause of early mortality. We present the case of a patient with a diagnosis of neurofibromatosis type 1 who presents a rupture of a pseudoaneurysm dependent on the left temporal artery with a fistula with drainage to the superficial facial vein that resulved favorably by endovascular treatment.

La neurofibromatosis es una enfermedad producida por una mutación en el cromosoma 17; fue descrita por Friedrich Daniel von Recklinghausen en 1882. Se caracteriza por la aparición de tumores benignos en distintos órganos que, ocasionalmente, pueden malignizarse. Se describen cuatro tipos de neurofibromatosis; la más frecuente es la de tipo 1, que se produce por mutaciones en el gen NF1, inhibiendo la neurofibromina, y en un pequeño porcentaje de casos por microdeleción 17q11. En el 50% de los casos es autosómica dominante y la penetrancia es del 100%. Su prevalencia es de 1/3000 nacidos vivos y afecta por igual a ambos sexos. El diagnóstico se efectúa por la presencia de signos característicos y puede corroborarse por medio de estudios genéticos. Suele manifestarse en la infancia y comprometer la piel, con formación de múltiples neurofibromas, gliomas de la vía óptica, hamartomas del iris, malformaciones óseas, hipertensión arterial, alteraciones vasculares, tumores intracraneales y de las vainas de nervios periféricos, convulsiones, hidrocefalia, déficit cognitivo y dificultades del aprendizaje. La enfermedad vascular es una complicación rara que suele ser asintomática, puede afectar los vasos que van desde la aorta proximal hasta las arteriolas pequeñas, incluyendo estenosis arteriales, aneurismas y malformaciones arteriovenosas. El pronóstico suele ser bueno; las causas de mortalidad temprana son las neoplasias y las vasculopatías. Presentamos el caso de un paciente con diagnóstico de neurofibromatosis tipo 1 que presentó ruptura de seudoaneurisma dependiente de la arteria temporal izquierda, con fístula con drenaje a la vena facial superficial, que se resolvió favorablemente mediante tratamiento endovascular

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RESUMEN Introducción: El manejo diagnóstico y terapéutico en los pacientes con lupus eritematoso sistémico que desarrollan una afectación neuropsiquiátrica representa un reto, debido a la heterogeneidad de las formas en que puede presentarse y la ausencia de criterios diagnósticos. Objetivo: Reconocer las formas clínicas de presentación de los síndromes neuroftalmológicos que traducen afectación pontina. Presentación del caso: Hombre de 71 años con antecedente de lupus eritematoso sistémico con afectación neuopsiquiátrica, que de forma aguda desarrolla un cuadro emético en el curso de una emergencia hipertensiva seguido de una parálisis de la mirada horizontal hacia la izquierda, una oftalmoplejía internuclear posterior derecha y una parálisis facial izquierda. En la neuroimagen se constata una afectación multifocal con marcado daño pontino. Conclusiones: Reconocer las formas clínicas de presentación de estos trastornos neuroftalmológicos raros que generalmente se presentan de forma aguda/subaguda permite al neurólogo realizar el diagnóstico topográfico de la lesión a nivel protuberancial con elevada precisión desde la Sala de Urgencias, así como reducir los posibles diagnósticos diferenciales a una etiología vascular, desmielinizante u ocupativa de espacio(AU)

ABSTRACT Introduction: The diagnostic and therapeutic management of patients with systemic lupus erythematosus who develop a neuropsychiatric involvement represents one of the biggest challenges due to the heterogeneity of the ways in which it can occur and the absence of diagnostic criteria. Objective: To recognize the clinical forms of presentation of neurophthalmological syndromes that express pontine involvement. Case presentation: Seventy-one-year-old man with history of systemic lupus erythematosus with neuropsychiatric involvement who acutely develops an emetic episode in the course of a hypertensive emergency followed by a paralysis of the horizontal gaze to the left, a right-sided posterior internuclear ophthalmoplegia and a left facial palsy. In the neuroimaging, a multifocal involvement with marked pontine damage is observed. Conclusions: Recognizing the clinical forms of presentation of these rare neurophthalmological disorders that generally occur in an acute or subacute form allows the neurologist to perform the topographic diagnosis of the lesion at a protuberancial level with high precision from the time when the patient attends the Emergency Department and reduces the possible differential diagnoses to a vascular, demyelinating or occupational etiology of space(AU)

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