Histoplasmosis diseminada en una mujer con artritis seronegativa / Disseminated histoplasmosis in a woman with seronegative arthritis

Resumen Histoplasma capsulatum es un hongo ambiental que se encuentra distribuido comúnmente en los valles de los ríos Ohio y Mississippi, América Central, Sudamérica y Asia. Las zonas más afectadas en Argentina son las cuencas de los ríos Paraná y de La Plata. Los pacientes con histoplasmosis tienen una amplia variedad de manifestaciones clínicas. La mayoría son asintomáticos, mientras que aquellos con com promiso de la inmunidad celular tienen un riesgo aumentado de padecer la forma diseminada. Presentamos el caso de una mujer adulta, en tratamiento con metotrexato por una artritis seronegativa, que desarrolló la forma diseminada de la enfermedad, y que representó un desafío diagnóstico debido a la dificultad para identificar el agente etiológico.

Abstract Histoplasma capsulatum is an environmental fungus commonly found in the Ohio and Mississippi River valleys, Central and South America, and Asia. The most affected areas in Argentina are the Paraná and de La Plata river basins. Patients with histoplasmosis can have a wide range of clinical presentations. Most of them are asymptomatic, while those with compromised cellular immunity are at increased risk for the disseminated form. We present the case of a patient undergoing treatment with methotrexate for seronegative arthritis who developed the disseminated form of the disease, and who represented a diagnostic challenge due to the difficulty in identifying the etiologic agent.

Effect of avocado/soybean unsaponifiables on periodontal repair in rats with arthritis and induced periodontitis

Abstract Objective: This study aimed to evaluate the effect of avocado/soybean unsaponifiables (ASU) on periodontal repair in rats with induced periodontitis and arthritis. Methodology: Forty-five rats were submitted to periodontitis induction by insertion of ligatures into the upper second molars, maintained for 15 days. These animals were randomly allocated to 3 groups according to the presence of induced arthritis (ART) and the application of the ASU: Control (CTR) group-healthy animals, where saline solution was administered; ART-animals with induced arthritis, where saline solution was administered; ART/ASU-animals with induced arthritis, where ASU (0.6 mg/ kg) was administered. The drugs were administered daily by gavage and the animals were euthanized after 7, 15 and 30 days of the ligature removal. Bone resorption, inflammatory infiltrate composition and marker proteins expression of the differentiation and formation of osteoclasts (RANKL and TRAP) were assessed. Results: The ART/ASU group presented higher bone volume than the ART group at 7 and 30 days after the ligature removal. Furthermore, the ART group presented higher quantity of inflammatory cells and expression of TRAP and RANKL than the other groups. Conclusion: ASU administration improves the repair of periodontal tissues in an experimental periodontitis model in rats with induced arthritis.

Chronic polyarthritis as the first manifestation of childhood systemic polyarteritis nodosa / Poliartrite crônica como primeira manifestação de poliarterite nodosa sistêmica pediátrica

ABSTRACT Arthritis has been reported as an acute pattern, generally evanescent with oligoarthritis, mostly affecting knees and ankles in childhood systemic polyarteritis nodosa. However, chronic polyarthritis with morning stiffness mimicking juvenile idiopathic arthritis has not been reported. We describe the case of a 4-year old girl who had additive and chronic polyarthritis with edema, tenderness, pain on motion and morning stiffness for 2 months. After 45 days, she also presented painful subcutaneous nodules and erythematous-violaceous lesions in the extensor region of upper and lower limbs. She was admitted to university hospital due to high fever, malaise, myalgia, anorexia, loss of weight (1kg), painful skin lesions and severe functional disability. She was bedridden by chronic polyarthritis with limitation on motion. Systolic and diastolic blood pressures were greater than 95th percentile for height. Urine protein/creatinine ratio was 0.39g/day, and immunological tests were negative. Anti-streptolysin O was 1,687UI/mL. Skin biopsy revealed necrotizing vasculitis in medium- and small-sized vessels compatible with polyarteritis nodosa. Therefore, we had the diagnosis of systemic polyarteritis nodosa. Prednisone 2mg/kg/day was administered with complete resolution of skin lesions and arthritis, and improvement of proteinuria (0.26g/day) after 15 days. The diagnosis of childhood systemic polyarteritis nodosa should be considered for patients with chronic polyarthritis associated to cutaneous vasculitis triggered by streptococcal infection.

RESUMO Na poliarterite nodosa sistêmica pediátrica, a artrite caracteriza-se pelo padrão agudo, geralmente evanescente, com oligoartrite, e afeta principalmente joelhos e tornozelos. No entanto, a poliartrite crônica com rigidez matinal e simulando artrite idiopática juvenil ainda não foi relatada. Descrevemos o caso de uma menina de 4 anos que apresentou poliartrite crônica aditiva com edema, dor à palpação e movimento, e rigidez matinal por 2 meses. Após 45 dias, também apresentou nódulos subcutâneos dolorosos e lesões eritêmato-violáceas na região extensora dos membros superiores e inferiores. Foi internada no hospital universitário por conta de febre alta, mal-estar, mialgia, anorexia, perda de peso (1kg), lesões de pele muito dolorosas e incapacidade funcional grave. Estava restrita ao leito devido à poliartrite crônica com limitação do movimento. Pressões sistólica e diastólica foram maiores que percentil 95 para altura. Relação proteína/creatinina urinária estava 0,39g/dia, e os testes imunológicos foram negativos. Antiestreptolisina O era 1.687UI/mL. A biópsia de pele revelou vasculite necrosante de vasos de pequeno e médio calibre, compatível com poliarterite nodosa. Portanto, foi realizado o diagnóstico de poliarterite nodosa sistêmica. Foi administrada prednisona 2mg/kg/dia com resolução completa das lesões de pele e da artrite, além de melhora da proteinúria (0,26g/dia) após 15 dias. O diagnóstico de poliarterite nodosa sistêmica pediátrica deve ser considerado em pacientes com poliartrite crônica associado a lesões cutâneas vasculíticas, sendo a infecção estreptocócica um importante fator desencadeante.

Composición química del aceite esencial de Ocotea cymbarum Kunth (cascarillo y/o sasafrás) de la región Orinoquia / Chemical composition of essential oil of Ocotea cymbarum Kunth (cascarilla and/or sassafras) from the Orinoquía region

Introducción: en algunas poblaciones de la Orinoquia colombiana y/o venezolana venden, en plazas de mercado, los aceites de cascarillo y sasafrás; estos aceites son empleados para aliviar dolencias como artritis reumática, afecciones respiratorias y tratar picaduras de insectos y animales ponsoñosos. Los productos se obtienen de la especie Ocotea cymbarum Kunth, la cual tiene una abundante sinonimia botánica como Alseodaphne cymbarum,Licaria cymbarum, Misanteca cymbarum, Nectandra barcellensis, Nectandra cymbarum, Nectandra elaiophora, Nectandra oleífera y Ocotea barcellensis. Objetivo: realizar un análisis comparativo de las características fisicoquímicas del aceite esencial de cascarillo y/o sasafrás (posible Ocotea cymbarum Kunth). Métodos: la composición química relativa de los aceites obtenidos de madera y corteza fue determinada mediante cromatografía de gases acoplada a espectrometría de masas (CG-EM), el cálculo y comparación de índices de retención en columnas de polaridad ortogonal y la comparación de los espectros de masas por impacto electrónico con los de las bases de datos NIST08.L, Wiley9.L. Resultados: fueron determinados 45 compuestos en las muestras analizadas y más del 90 por ciento de la composición relativa establecida para cada aceite corresponde a compuestos monoterpénicos principalmente alcanfor y alfa-terpineol. Al realizar un análisis de las rutas biosintéticas que conducen a la generación de los principales compuestos detectados en los aceites analizados, se evidenció que las especies de donde se obtuvieron estos aceites, presentan diferentes grados de evolución micromolecular. Conclusión: los aceites de cascarillo y sasafrás provienen de especies vegetales con diferentes grados de evolución química. Este resultado refuerza la evidencia de la alta diversidad biológica de la familia Lauraceae. El trabajo fue realizado con el apoyo financiero del Laboratorio de Productos Naturales Vegetales del departamento de Química de la Universidad Nacional de Colombia sede Bogotá(AU)

Introduction: cascarilla and sassafras oils are sold in market places of some settlements in the Colombian and/or Venezuelan Orinoquía. These oils are used to alleviate conditions such as rheumatoid arthritis and respiratory disorders, and to treat the bites of insects and poisonous animals. The oils are obtained from the species Ocotea cymbarum Kunth, which displays abundant botanical synonymy as Alseodaphne cymbarum, Licaria cymbarum,Misanteca cymbarum, Nectandra barcellensis, Nectandra cymbarum, Nectandra elaiophora, Nectandra oleífera and Ocotea barcellensis. Objective: carry out a comparative analysis of the physicochemical characteristics of essential oil of cascarilla and/or sassafras (Ocotea cymbarum Kunth).Methods: the relative chemical composition of oils obtained from wood and bark was determined by gas chromatography coupled with mass spectrometry (GC-MS). Estimation and comparison of retention indices was conducted with orthogonal polarity columns. Comparison of electron impact mass spectra was performed with the databases NIST08.L and Wiley9.L. Results: forty-five compounds were determined from the samples analyzed. More than 90 percent of the relative composition established for each oil corresponds to monoterpenic compounds, mainly camphor and alpha-terpineol. Analysis of the biosynthetic pathways leading to the generation of the main compounds detected in the oils studied, showed that the species from which the oils were obtained exhibit varying degrees of micromolecular evolution. Conclusion: cascarilla and sassafras oils are obtained from plant species at varying stages of chemical evolution. This result constitutes additional evidence of the great biological diversity of the Lauraceae family. The study was conducted with financial support from the Natural Plant Products Laboratory of the Chemistry Department at the National University of Colombia at Bogotá(AU)

Chronic polyarthritis as isolated manifestation of toxocariasis / Poliartrite crônica como manifestação isolada da toxocaríase

ABSTRACT Human toxocariasis is a parasitic zoonosis mainly caused by Toxocara canis or Toxocara catiand is acquired by ingestion of the parasite’s embryonated eggs. Arthralgia and/or arthri-tis were reported in up to 17% of the cases, generally with acute duration (less than 6weeks). However, to our knowledge, chronic polyarthritis, as the isolated presentation ofToxocara infection, was not reported. One of the 5809 patients that was followed up at ourservice (0.017%) had chronic polyarthritis as the single manifestation of toxocariasis and wasdescribed herein. A 3-year-old girl was referred to our service with severe painful chronicpolyarthritis for a period longer than 10 weeks and morning stiffness of 30 min. Dog contactexposure history in the recreational areas of neighborhood was reported. Her exams showedhigh levels of eosinophils in peripheral blood (29%), bone marrow aspirate revealed markedeosinophilia (32%) and Toxocara enzyme-linked immunosorbent assay (Elisa) was positive(1:1280). She was treated with paracetamol (40 mg/kg/day) and thiabendazole (25 mg/kg/day)for 10 days, and all manifestations reduced. After eight months of follow-up, she was onclinical and laboratorial remission. In conclusion, we described a case of chronic polyarthri-tis, as isolated manifestation of toxocariasis, mimicking juvenile idiopathic arthritis andleukemia. Importantly, this zoonosis should be considered in patients with arthritis andeosinophilia.

RESUMO A toxocaríase é uma zoonose parasitária causada principalmente pelo Toxocara canis ou peloT. cati. É adquirida pela ingestão de ovos embrionados do parasita. A artralgia e/ou artriteforam relatadas em até 17% dos casos, geralmente com duração aguda (menos de seis sema-nas). No entanto, que se tem conhecimento, a poliartrite crônica como manifestação isoladada infecção por Toxocara ainda não foi descrita na literatura. Um dos 5.809 pacientes acom-panhados em nosso serviço (0,017%) exibiu poliartrite crônica como manifestação únicada toxocaríase e foi descrito neste estudo. Uma menina de três anos foi encaminhada aonosso serviço com poliartrite crônica dolorosa grave por um período superior a 10 semanase rigidez matinal diária de 30 minutos. Foi relatada história de exposição a contato comcão nas áreas de lazer do bairro. Seus exames revelaram níveis elevados de eosinófilos nosangue periférico (29%), o aspirado de medula óssea revelou eosinofilia acentuada (32%)e o ensaio imunoenzimático ligado a enzima (ELISA) para Toxocara foi positivo (1:1.280). Acriança foi tratada com paracetamol (40 mg/kg/dia) e tiabendazol (25 mg/kg/dia) durante10 dias e houve regressão de todas as manifestações. Depois de oito meses de seguimento,a pequena paciente estava em remissão clínica e laboratorial. Em conclusão, descreve-seum caso de poliartrite crônica como manifestação isolada da toxocaríase, que mimetizouuma artrite idiopática juvenil e leucemia. É importante ressaltar que essa zoonose deve serconsiderada em pacientes com artrite e eosinofilia.

Preventive Efficacy and Safety of Rebamipide in Nonsteroidal Anti-Inflammatory Drug-Induced Mucosal Toxicity

BACKGROUND/AIMS: The use of proton pump inhibitors or misoprostol is known to prevent the gastrointestinal complications of nonsteroidal anti-inflammatory drugs (NSAIDs). Rebamipide is known to increase the mucosal generation of prostaglandins and to eliminate free oxygen radicals, thus enhancing the protective function of the gastric mucosa. However, it is unknown whether rebamipide plays a role in preventing NSAID-induced gastropathy. The aim of this study was to determine the effectiveness of rebamipide compared to misoprostol in preventing NSAID-induced gastrointestinal complications in patients requiring continuous NSAID treatment. METHODS: We studied 479 patients who required continuous NSAID treatment. The patients were randomly assigned to groups that received 100 mg of rebamipide three times per day or 200 microg of misoprostol three times per day for 12 weeks. The primary endpoint of the analysis was the occurrence rate of gastric ulcers, as determined by endoscopy after 12 weeks of therapy. RESULTS: Of the 479 patients in the study, 242 received rebamipide, and 237 received misoprostol. Ultimately, 44 patients (18.6%) withdrew from the misoprostol group and 25 patients (10.3%) withdrew from the rebamipide group. There was a significant difference in withdrawal rate between the two groups (p=0.0103). The per protocol analysis set was not valid because of the dropout rate of the misoprostol group; thus, the intention to treat (ITT) analysis set is the main set for the efficacy analysis in this study. After 12 weeks, the occurrence rate of gastric ulcers was similar in the rebamipide and misoprostol groups (20.3% vs 21.9%, p=0.6497) according to ITT analysis. In addition, the therapeutic failure rate was similar in the rebamipide and misoprostol groups (13.6% vs 13.1%, p=0.8580). The total severity score of the gastrointestinal symptoms was significantly lower in the rebamipide group than in the misoprostol group (p=0.0002). The amount of antacid used was significantly lower in the rebamipide group than in the misoprostol group (p=0.0258). CONCLUSIONS: Rebamipide can prevent gastric ulcers when used with NSAIDs and can decrease the gastrointestinal symptoms associated with NSAID administration. When the possibility of poor compliance and the potential adverse effects of misoprostol are considered, rebamipide appears to be a clinically effective and safe alternative.

The skin tissue is adversely affected by TNF-alpha blockers in patients with chronic inflammatory arthritis: a 5-year prospective analysis

OBJECTIVE: We evaluated the incidence of and the main risk factors associated with cutaneous adverse events in patients with chronic inflammatory arthritis following anti-TNF-α therapy. METHODS: A total of 257 patients with active arthritis who were taking TNF-α blockers, including 158 patients with rheumatoid arthritis, 87 with ankylosing spondylitis and 12 with psoriatic arthritis, were enrolled in a 5-year prospective analysis. Patients with overlapping or other rheumatic diseases were excluded. Anthropometric, socioeconomic, demographic and clinical data were evaluated, including the Disease Activity Score-28, Bath Ankylosing Spondylitis Disease Activity Index and Psoriasis Area Severity Index. Skin conditions were evaluated by two dermatology experts, and in doubtful cases, skin lesion biopsies were performed. Associations between adverse cutaneous events and clinical, demographic and epidemiological variables were determined using the chi-square test, and logistic regression analyses were performed to identify risk factors. The significance level was set at p<0.05. RESULTS: After 60 months of follow-up, 71 adverse events (73.85/1000 patient-years) were observed, of which allergic and immune-mediated phenomena were the most frequent events, followed by infectious conditions involving bacterial (47.1%), parasitic (23.5%), fungal (20.6%) and viral (8.8%) agents. CONCLUSION: The skin is significantly affected by adverse reactions resulting from the use of TNF-α blockers, and the main risk factors for cutaneous events were advanced age, female sex, a diagnosis of rheumatoid arthritis, disease activity and the use of infliximab. .

Minocycline-induced Periarticular Black Bones in Inflamed Joints Which Underwent Arthroplastic Reconstruction

BACKGROUND: Minocycline-induced pigmentation of bone (black bone) is well described in tooth-bearing intra-oral bone, but is less known in periarticular bone in patients who have undergone total joint arthroplasty. On a retrospective basis, we investigated the short-term clinico-radiological results of total joint arthroplasties in which the patient developed minocycline-induced periarticular black bone. METHODS: We found 5 cases (0.08%), in 4 patients, of periarticular bone pigmentation revealed during total joint arthroplasties (2 hips, 2 knees, and 1 ankle) in our series of total joint surgeries (6,548 cases) over a 10-year time period in our 3 institutes. Their mean age was 56 years at surgery. All patients had received long-term minocycline treatment. Mean dosage and duration of minocycline was 160 mg/day and 2.2 years, respectively. Minocycline had been prescribed for reactive arthritis (one), rheumatoid arthritis (two) and late infection after total joint arthroplasty (two patients). Mean follow-up period was 3.4 years after the surgeries. RESULTS: All cases had black or brown pigmentation in the periarticular bones during the surgery. There was no pigmentation in the cartilage or soft tissues of the joints. The mean Japanese Orthopaedic Association (JOA) score or Japanese Society for Surgery of the Foot (JSSF) scale for rheumatoid arthritis foot and ankle joints at latest follow-up (case 1, 66; case 2, 87; case 3, 77; case 4, 77; case 5, 80) improved compared to those of pre-surgery (case 1, 47; case 2, 45; case 3, 55; case 4, 34; case 5, 55). No implant loosening was noted on radiographic examination during the follow-up period. No abnormal bone formation, bone necrosis, hemosiderin deposition, malignancy or metallic debris was found on histological examination. CONCLUSIONS: No clinico-radiological symptoms of total joint arthroplasties showed in the patients with minocycline-induced periariticular black bone in the short-term. Systemic minocycline treatment has the potential to induce significant black pigmentation of many tissues. In particular, minocycline-induced pigmentation of periarticular bone may be accelerated by inflammation due to rheumatic or pyogenic arthritis. Surgeons should recognize the risk of bone pigmentation in inflamed joints due to the systemic treatment of minocycline and explore its influence on periarticular bone and total joint arthroplasty in the long-term.

Primary meningococcal polyarthritis in a young man.

We report a rare occurrence of primary meningococcal polyarthritis in a 19-year-old man. The fluid in the elbow joint showed Gram-negative diplococci but the culture was sterile. The diagnosis was confirmed by polymerase chain reaction targeting crgA gene of Neisseria meningitidis.

[Investigation of the preventive effect of glucosamine, chondroitin alone and in combination on cartilage insult caused by quinolone in juvenile rats]

Osteoarthritis is considered the most common joint disease in the world, especially among the aged population. But it may affect the kids as a secondary type when kids were administered some groups of drugs such as quinolones which cause cartilage deformations and predispose to secondary type of osteoarthritis. This study aims to investigate the protective effect of glucosamine and chondroitin alone and in combination in the treatment of arthritis in Juvenile Rats. This study was applied on 5 groups of juvenile wistar rats, which divided as: normal group, control group, the group of GA, group of CS, the group of combination between GA+CS. At the end of the study all of rats were killed, then measurement of maximum extension of the right knee were performed, also histological and functional analysis of the articular cartilage of the knee were performed. Control group showed the degenerative changes as compared to the normal group, which is improved into the groups of GA, CS, which distinguished from the combination group. This study shows that GA and CS have protective effect able to opposite the destructive effect of quinolone on immature cartilages

Drug Fever Due to Piperacillin/Tazobactam Loaded into Bone Cement

Although drug fever may develop after administration of the drug by various routes, it has not been reported with antibiotic-loaded bone cement. Here, a case of drug fever induced by piperacillin/tazobactam loaded into bone cement is reported. A 72-yr-old woman presented with fever that developed two weeks after insertion of bone cement loaded with antibiotics including piperacillin/tazobactam into the knee joint for infectious arthritis. The fever was associated with a skin rash and blood eosinophilia. The work-up of the fever excluded several causes. Drug provocation test demonstrated that the piperacillin/tazobactam, which had been loaded in the bone cement, was the cause of the fever. The findings of this case suggest that drug fever can be induced by any drug placed and released continuously within the body. Therefore, the evaluation for possible drug fever should include all drugs the patient has been exposed to regardless of the route of administration.

Analysis of patients with post-chemotherapy Arthralgia and Arthritis in breast cancer.

Objective: Evaluate the characteristics of arthropathy and musculoskeletal pain after chemotherapy in patients with breast cancer. Materials and Methods: In this study, we evaluate the characteristics of 15 patients with joint symptoms after receiving chemotherapy for breast cancer. Demographic information including sex, age, time of rheumatologic findings after starting of chemotherapy, and time of improvement after starting of medication, and laboratory findings detected for each patient. Results: Patients comprised 15 women with mean age 43.4 ± 10.6 years that received classic chemotherapy for breast cancer according to stage of disease including cyclophosphamide, and tamoxifen. Joint symptoms usually began about 6 months after the first session of chemotherapy. Patients had an average of 2 tender joints and 1 hour of morning stiffness. None of patients were positive for anti-nuclear antibody, and just 1 patient was positive for rheumatoid factor. Non-steroidal anti-inflammatory drugs, disease modifying anti-rheumatic drugs (DMARD), corticosteroids, and venlafaxine were prescribed. 5 patients did not show an improvement and were also given low dose oral corticosteroids. Follow-up was available for all patients. 13 patients showed favorable responses, characterized by a significant decrease (more than 50%) in morning stiffness, pain, and tender joint counts after a mean of 3 months' treatment. 9 patients had complete resolution of symptoms and stopped all medications. Conclusion: Chemotherapy-related arthropathy is not rare, and the prognosis is fairly good with early treatment using NSAID, DMARD, and corticosteroids.

Sulfasalazine-induced DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) / Síndrome DRESS (Drug Rash with Eosinophilia and Systemic Symptoms) induzida por sulfasalazina

CONTEXT: DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a type of drug reaction commonly mistaken for a viral infection. It must be recognized promptly due to its high morbidity and 10 percent mortality rate. Few cases of DRESS syndrome induced by sulfasalazine have been reported in the literature. CASE REPORT: The case of a 47-year-old white Brazilian woman who developed DRESS syndrome eight weeks after starting a course of sulfasalazine for treatment of seronegative arthritis is reported. She presented a skin rash, fever, hepatitis, lymphadenopathy, eosinophilia and atypical lymphocytes. The causative drug was discontinued immediately, but she only improved after treatment with prednisone.

CONTEXTO: A síndrome DRESS (Drug Rash with Eosinophilia and Systemic Symptoms) é um tipo de reação a drogas comumente confundida com uma infecção viral. Deve ser prontamente reconhecida devido a sua alta morbidade e taxa de mortalidade de 10 por cento. Poucos casos de síndrome DRESS induzida por sulfasalazina foram relatados na literatura. RELATO DE CASO: É relatado o caso de uma mulher branca, brasileira, de 47 anos, que desenvolveu a síndrome DRESS oito semanas após iniciar tratamento com sulfasalazina para artrite soronegativa. A paciente apresentou rash maculopapular, febre, hepatite, linfadenomegalia, eosinofilia e linfocitose atípica. A medicação foi suspensa imediatamente no início dos sintomas, mas só houve melhora clínica após tratamento com prednisona.

Articular manifestations associated with HIV infection

During the infection by human immunodeficiency virus, there is dysfunction in the immune system because of the coexistence of immundeficiency and immune hyperactivity, and a disregulated production or activity of cytokines. Some of these mechanisms explain the development of articular manifestations associated with HIV infection Highly active anti retroviral therapy has changed the spectrum of the HIV-associated articular manifestations. New syndromes have emerged. A variety of disorders may be seen. Their prevalence is controversed. Several points remain obscures such as the existence of genetical predisposition for these manifestations, the role played by the anti retroviral therapy and utilisation of immunosuppressors like inhibitors of TNF alpha

CINCA Syndrome.

CINCA syndrome is a genetic disorder characterized by early onset of recurrent fever, rash, progressive articular and neurological involvement. We report a 7-year-old girl with CINCA syndrome with an infrequent manifestation of retinal vasculitis and a relative paucity of neurological signs. She had a de novo F309S mutation in exon 3 of CIAS1 gene on chromosome 1.This is the first report of this entity from India.