WorldWideScience

Sample records for autoimmune syndrome case

  1. Polyglandular Autoimmune Syndrome in pregnancy: case report

    Science.gov (United States)

    Pecorino, Basilio; Teodoro, Maria Cristina; Scollo, Paolo

    2016-01-01

    Type III Polyglandular Autoimmune Syndrome is a multiple endocrine disorders disease determined by autoimmunity; it can be diagnosed if a patient is affected by Type 1 Diabetes Mellitus and another autoimmune disease, except Addison Disease, for example Autoimmune Hashimoto Thyroiditis or Celiac Disease. R.D., 34-year-old woman (gravida 2 para 1), was referred to the High Risk Pregnancy Outpatient Clinic at Cannizzaro Hospital in Catania at 8 weeks' gestation. She was affected from type III Polyglandular Autoimmune Disease (Type 1 Diabetes Mellitus, Autoimmune Hashimoto Thyroiditis and Celiac Disease). Pre-conception glycated hemoglobin and thyrotropin levels were normal. This pregnancy was characterized by glycemic instability and the need to increase the insulin units every month. The patient was hospitalized at 32+6 weeks for monitoring fetus and mother health because of inadequate glycemic control and the high insulin dosage required. She was delivered by caesarean section at 36+6 weeks because of uterine contractions, the previous cesarean section, glycemic instability and the gestational age. She delivered a baby boy, birth-weight 3300 g, Apgar 8-9. She was discharged in the fourth day after delivery with good maternal and child prognosis. Literature data and the experience derived by this case report suggest some recommendations to improve obstetrics and neonatologist outcome in the patients affected from type III Polyglandular Autoimmune Syndrome: pre-conception counseling, thyrotropin assay every 4-6 weeks, gluten-free diet, fasting and post-prandial blood glucose level targets. PMID:27917035

  2. Autoimmune lymphoproliferative syndrome (ALPS). Case report and family history.

    Science.gov (United States)

    Ries, F; Ferster, A; Rieux-Laucat, F; Biwer, A; Dicato, M

    2010-01-01

    Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease caused by defective lymphocyte apoptosis and is characterized by non-malignant lymphoproliferation, hepatosplenomegaly, autoimmune manifestations and increased risk of both Hodgkin's and non-Hodgkin's lymphoma. Most forms of the disease are due to germ line mutations of the FAS gene and manifest during the first years of life with fluctuating lymphadenopathies, hemolysis, immune thrombocytopenia. During the second decade of life disease manifestations improve spontaneously but autoimmune problems still occur and there is an increased risk of lymphoproliferative malignancy. We describe a typical case of ALPS in a now 44 year old man, followed since the age of 2 for disease manifestations that were unclear at the beginning.

  3. Hashimoto's thyroiditis associated Evans syndrome: A rare case report on the clustered autoimmune disease triad.

    Science.gov (United States)

    Koti, Kalyan; Thumma, Rayapa Reddy; Nagarajan, Swathanthra; Mathi, Atchyuta

    2013-07-01

    Evans syndrome is a rare combination of autoimmune hemolytic anemia and immune thrombocytopenia. Their association with autoimmune thyroid diseases has been reported by few authors; however, a sequential development of the Evans syndrome in cases of Hashimoto's thyroiditis is extremely rare. The clustering of these autoimmune diseases might share a common pathogenic pathway. We present the fourth such case in world literature, of a 34-year-old female diagnosed with Hashimoto's thyroiditis in 2006, who has been taking synthetic thyroid hormone since then. Her condition is now clinically complicated with the development of the Evans syndrome.

  4. Autoimmune Cholangitis: A Variant Syndrome of Autoimmune Hepatitis

    OpenAIRE

    Brij Sharma; Sujeet Raina; Rajesh Sharma

    2014-01-01

    Autoimmune cholangitis (AIC) or autoimmune cholangiopathy is a chronic inflammation of liver and a variant syndrome of autoimmune hepatitis (AIH). We present a case of an adult female who had biochemical features of cholestasis and transaminasemia but aminotransferases were not in the hepatitis range and had histological evidence of bile duct injury which was subsequently diagnosed as autoimmune cholangitis.

  5. Primary insulin autoimmune syndrome in an Italian woman: a case report

    Directory of Open Access Journals (Sweden)

    Antonio Balestrieri

    2015-05-01

    Full Text Available Insulin autoimmune syndrome (IAS is a rare syndrome characterized by fasting or postprandial hypoglycemia, high levels of anti-insulin antibodies and high concentration of total serum immunoreactive insulin. It is relatively known in Japan, rare in remaining Asia and it is extremely uncommon in Western countries, being characterized by a different race-related incidence and associated with HLADR4 alleles. Usually IAS is related to particular drugs, or to autoimmune, rheumatologic or hematological diseases, while it is very rare as a primary form. Here we described a case of an Italian woman affected by a primary form of Hirata syndrome.

  6. Anaesthesia management for acute appendicitis in cases with Sjogren's syndrome accompanying autoimmune hepatitis.

    Science.gov (United States)

    Demirel, Ismail; Ozer, Ayse Belin; Bayar, Mustafa K; Erhan, Omer L

    2013-04-30

    Characterised by lymphocytic infiltration of exocrine glands, Sjögren's syndrome (SS) is a chronic autoimmune disease. Symptoms belonging to the involved systems may occur owing to the fact that it affects multiple systems. While rheumatoid arthritis is observed concomitantly, its co-occurrence with autoimmune hepatitis is astonishingly common. Through this case report, we intended to review issues that should be attended to while administering anaesthesia to a patient with SS accompanying autoimmune hepatitis. In the light of literature, we aimed to discuss anaesthesia management to the patient with SS and issues stemming from the clinical features of SS. In SS, the expected issues are liver problems related autoimmune hepatitis and respiratory problems related pulmonary fibrosis. A careful preoperative evaluation, a comprehensive preparation against difficulty in intubation, a selective anaesthesia management in terms of autoimmune hepatitis and close monitoring of postoperative respiration may prevent or decrease possible complications.

  7. [Syndrome overlap: autoimmune hepatitis and autoimmune cholangitis].

    Science.gov (United States)

    Guerra Montero, Luis; Ortega Alvarez, Félix; Marquez Teves, Maguin; Asato Higa, Carmen; Sumire Umeres, Julia

    2016-01-01

    Autoimmune hepatitis, primary biliary cirrhosis, primary sclerosing cholangitis and autoimmune cholangitis are chronic autoimmune liver disease, usually present separate, the cases where characteristics of two of the above is observed liver disease is commonly referred to as Overlap Syndromes (OS). Although there is no consensus on specific criteria for the diagnosis of OS identification of this association is important for initiating appropriate treatment and prevent its progression to cirrhosis or at least the complications of cirrhosis and death. We report the case of awoman aged 22 cirrhotic which debuted are edematous ascites, severe asthenia and jaundice compliant diagnostics SS criteria and initially present any response to treatment with ursodeoxycholic acid and oral corticosteroids, but ultimately finished performing a transplant orthotopic liver.

  8. Multiple autoimmune syndrome with celiac disease.

    Science.gov (United States)

    Harpreet, Singh; Deepak, Jain; Kiran, B

    2016-01-01

    Multiple autoimmune syndrome (MAS) is a condition characterised by three or more autoimmune disorders in a same individual. Familial, immunologic and infectious factors are implicated in the development of MAS. Here we report a case of a 32-year-old woman with co-existence of four auto-immune diseases, namely autoimmune hypothyroidism, Sjögren's syndrome, systemic lupus erythematosus (SLE) and celiac disease which leads to the final diagnosis of multiple autoimmune syndrome type 3 with celiac disease. Patients with single autoimmune disorder are at 25% risk of developing other autoimmune disorders. The present case emphasises to clinicians that there is a need for continued surveillance for the development of new autoimmune disease in predisposed patients.

  9. Use of Sirolimus (Rapamycin) for Treatment of Cytopenias and Lymphoproliferation Linked to Autoimmune Lymphoproliferative Syndrome (ALPS). Two Case Reports.

    Science.gov (United States)

    Cayrol, Julie; Garrido Colino, Carmen

    2017-02-23

    Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte apoptosis. Children present with chronic nonmalignant lymphadenopathy, hepatosplenomegaly, and autoimmune cytopenias. Recent advances show efficacy of treatment with immunosuppressive drugs. Sirolimus, an mammalian target of rapamycin inhibitor, improves autoimmune cytopenias and lymphoproliferation, with a safe profile. We present 2 patients, a 5-year-old girl and 15-year-old boy, diagnosed with ALPS with initial partial response to steroid treatment. Autoimmune cytopenias and lymphoproliferation then became refractory to treatment, with recurrence of symptoms. In both cases, treatment with sirolimus was started, with a rapid response, complete remission of cytopenias, and resolution of lymphoproliferation, with no significant adverse effects.

  10. Autoimmune Polyglandular Syndrome Type 1

    OpenAIRE

    Ponranjini, Vedeswari C.; Jayachandran, S; L Kayal; K Bakyalakshmi

    2012-01-01

    Autoimmune Polyglandular Syndrome (APS) Type 1 is a rare hereditary disorder that damages organs in the body. This disease entity is the result of a mutation in the AIRE gene. It is characterized by three classic clinical features - hypoparathyroidism, Addison′s disease, and chronic mucocutaneous candidiasis. For a patient to be diagnosed as having APS Type 1 syndrome at least two of these features needs to be present. The third entity may develop as the disease progresses. We report a case o...

  11. Multiple Autoimmune Syndromes Associated with Psoriasis: A Rare Clinical Presentation

    Directory of Open Access Journals (Sweden)

    Sadia Masood

    2014-03-01

    Full Text Available Autoimmune diseases are known to have association with each other but it is very rare to see multiple autoimmune diseases in one patient. The combination of at least three autoimmune diseases in the same patient is referred to as multiple autoimmune syndrome. The case we are reporting features multiple autoimmune syndrome with five different conditions. The patient had type 1 diabetes mellitus, autoimmune hemolytic anemia, systemic lupus erythematosus, vitiligo, and psoriasis. Psoriasis has rarely been reported previously under the spectrum of autoimmune syndrome. Although the relationship of autoimmune conditions with each other has been explored in the past, this case adds yet another dimension to the unique evolution of autoimmune pathologies. The patient presented with a combination of five autoimmune diseases, which makes it consistent type three multiple autoimmune syndromes with the addition of psoriasis. The current case is unique in this aspect that the combination of these five autoimmune disorders has never been reported in the past.

  12. [Autoimmune pancreatitis as an element of autoimmune polyglandular syndrome].

    Science.gov (United States)

    Dyrla, Przemysław; Nowak, Tomasz; Gil, Jerzy; Adamiec, Cezary; Bobula, Mariusz; Saracyn, Marek

    2016-05-01

    Autoimmune pancreatitis constantly belongs to diseases which often causes significant diagnostic problem and often runs out with surgical intervention as considered to be a pancreatic cancer. Important although usually underestimated problems are polyglandular syndromes, which may consist of autoimmune pancreatitis (AIP) problem as well. This case report is an example of autoimmune polyglandular syndrome (APS), which was connected with the surgical treatment with biliary bypass anastomosis because of the unresectable lesion in the head of pancreas. The definite remission of the pancreatic lesion finally came after a steroid therapy. Differentiation between neoplastic and inflammatory pancreatic tumors very often remains a serious clinical problem. On grounds of imaging and cytopathology exams it is often difficult to decide about the nature of a lesion. The negative result of cytopathological biopsy examination does not finally settle straightforward diagnosis. Diagnostic problems affect also autoimmune pancreatitis. It is worth to undertake attempts to differentiate pancreatic lesions especially in cases of concomitance with other autoimmune polyglandular syndromes. That is because it is connected with completely different treatment and outcome. We should remember about diagnostic criteria of autoimmune pancreatitis. Appropriate diagnosis for patients with AIP gives them a chance to avoid serious surgical resection and possible complications.

  13. [Polyglandular autoimmune syndromes : An overview].

    Science.gov (United States)

    Komminoth, P

    2016-05-01

    Polyglandular autoimmune syndromes (PGAS), also known as autoimmune polyendocrinopathy syndromes (APS), are a heterogeneous group of rare, genetically caused diseases of the immune system which lead to inflammatory damage of various endocrine glands resulting in malfunctions. In addition, autoimmune diseases of non-endocrine organs may also be found. Early diagnosis of PGAS is often overlooked because of heterogeneous symptoms and the progressive occurrence of the individual diseases. The two most important forms of PGAS are the juvenile and adult types. The juvenile type (PGAS type 1) is caused by mutations in the autoimmune regulator (AIRE) gene on chromosome 21, exhibits geographic variations in incidence and is defined by the combination of mucocutaneous candidiasis, Addison's disease and hypoparathyroidism. In addition, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome and other autoimmune diseases can also occur. The adult form of PGAS (PGAS type 2) is a multigenetic disorder associated with some HLA haplotypes, is more common than the juvenile type, shows female predominance and exhibits the combination of type 1 diabetes, autoimmune thyroid disease, Addison's disease and other autoimmune disorders. The histological alterations in affected organs of PGAS patients are similar to findings in sporadically occurring autoimmune diseases of these organs but there are no pathognomic fine tissue findings. If patients exhibit autoimmune changes in two different endocrine glands or if there are indications of several autoimmune disorders from the patient history, it is important to consider PGAS and inform the clinicians of this suspicion.

  14. Posterior reversible encephalopathy syndrome in a child with autoimmune lymphoproliferative syndrome: Case report and review of literature

    Directory of Open Access Journals (Sweden)

    Vaishnavi Chandramohan

    2012-01-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is characterized by headache, nausea, vomiting, seizures and visual disturbances. PRES has been usually associated with hypertension, chronic renal disease, malignancy and chemotherapeutic agents. We report the association of PRES with Autoimmune lymphoproliferative syndrome, which to our best knowledge has not been reported before.

  15. Late Diagnosed Type II Autoimmune Polyglandular Failure Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Mehtap Evran

    2014-03-01

    Full Text Available Autoimmune polyglandular syndrome (APS type II is the term descibing a group of diseases with two or more concurrent endocrine disorders. It is more prevalent in female gender. The most common pathologies include primary adrenal insufficiency (Addison’s disease, autoimmune thyroid diseases (Graves’ disease, Hashimoto’s thyroiditis, type 1 diabetes mellitus (DM and primary hypogonadism. Replacement of deficient hormone is the basis of treatment. The present paper discussed autoimmune polyglandular syndrome based on the symptoms in a 25-year-old female patient who was followed in the intensive care unit because of impaired consciousness considered to have resulted from potential drug/substance addiction. Antidepressant therapy was recommended for the patient and she was diagnosed with APS on further evaluation. Turk Jem 2014; 1: 13-16

  16. Autoimmune/Inflammatory Syndrome Induced by Adjuvants and Thyroid Autoimmunity

    Science.gov (United States)

    Watad, Abdulla; David, Paula; Brown, Stav; Shoenfeld, Yehuda

    2017-01-01

    The autoimmune/inflammatory syndrome induced by adjuvants (ASIA), presented by Shoenfeld and Agmon-Levin in 2011, is an entity that incorporates diverse autoimmune conditions induced by the exposure to various adjuvants. Adjuvants are agents that entail the capability to induce immune reactions. Adjuvants are found in many vaccines and used mainly to increase the response to vaccination in the general population. Silicone has also been reported to be able to induce diverse immune reactions. Clinical cases and series of heterogeneous autoimmune conditions including systemic sclerosis, systemic lupus erythematosus, and rheumatoid arthritis have been reported to be induced by several adjuvants. However, only a small number of cases of autoimmune thyroid disorder have been included under the umbrella of ASIA syndrome. Indeed, clinical cases of Hashimoto’s thyroiditis and/or subacute thyroiditis were observed after the exposure to vaccines as well as silicone implantation. In our review, we aimed to summarize the current knowledge on ASIA syndrome presented as endocrinopathies, focusing on autoimmune thyroid disorders associated with the various adjuvants. PMID:28167927

  17. Holmes-Adie syndrome, autoimmune hepatitis and celiac disease: A case report

    Institute of Scientific and Technical Information of China (English)

    Timea Csak; Aniko Folhoffer; Andrea Horvath; Judit Halász; Csaba Diczházi; Zsuzsa Schaff; Ferenc Szalay

    2006-01-01

    A 35-year-old female patient presented with the following symptoms of Holmes-Adie syndrome: photophobia,enlargement of the left pupil unresponsive to light,Achilles areflexia. The pilocarpine test was positive. No tumor or other neurological abnormality was found. She had a 19-year history of autoimmune hepatitis. Flares up were observed following each 3 deliveries. At age of 31she presented with diarrhea and weight loss. Abdominal tumor was detected by ultrasound. The surgically removed tumor was histologically a benign mesenteric multicystic lymphangioma. Simultaneously, celiac disease was diagnosed. Gluten-free diet resulted in a significant improvement of celiac disease, but not of autoimmune hepatitis. Autonomic neuropathy was proven by standard cardiovascular tests. The patient was a homozygous carrier for HLA DQ2 antigen characteristic for celiac disease and heterozygous for HLA DR3 B8 frequent in autoimmune liver diseases. Our novel observation on association of Holmes-Adie syndrome with autoimmune hepatitis and celiac disease is suggestive for a common immunological background for all three entities present in a patient with mesenteric multicystic lymphangioma.

  18. Autoimmune liver disease in Noonan Syndrome.

    Science.gov (United States)

    Loddo, Italia; Romano, Claudio; Cutrupi, Maria Concetta; Sciveres, Marco; Riva, Silvia; Salpietro, Annamaria; Ferraù, Valeria; Gallizzi, Romina; Briuglia, Silvana

    2015-03-01

    Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Autoimmune Hepatitis (AIH) is a cryptogenic, chronic and progressive necroinflammatory liver disease. Common features of AIH are hypergammaglobulinemia (IgG), presence of circulating autoantibodies, histological picture of interface hepatitis and response to immunosuppressant drugs. Conventional treatment with Prednisone and Azathioprine is effective in most patients. We describe the case of a 6 years-old girl with Noonan Syndrome and Autoimmune Hepatitis type 1. Molecular analysis of PTPN11 gene showed heterozygous mutation c.923A>G (Asn308Ser) in exon 8. Though association between NS and autoimmune disorders is known, this is the second case of association between Noonan Syndrome and Autoimmune Hepatitis type 1 described in literature. In the management of NS, an accurate clinical evaluation would be recommended. When there is a clinical suspicion of autoimmune phenomena, appropriate laboratory tests should be performed with the aim of clarifying whether the immune system is involved in NS. We think that autoimmunity represents a characteristic of NS, even if the etiopathogenesis is still unknown.

  19. Autoimmune Lymphoproliferative Syndrome with Red Cell Aplasia.

    Science.gov (United States)

    Meena, K R; Bisht, Supriya; Tamaria, K C

    2015-12-01

    Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare inherited disorder of abnormal lymphocyte apoptosis, leading to chronic lymphoproliferation. It presents as lymphadenopathy, hepatosplenomegaly and autoimmune phenomena. Pure red cell aplasia is characterized by normochromic normocytic anemia, reticulocytopenia, and absence of erythroblasts from a normal bone marrow. Only few lymphoproliferative disorders have been associated with erythroid aplasia. The authors are reporting a case of ALPS associated with red cell aplasia in a 7-y-old girl.

  20. Autoimmune diseases and myelodysplastic syndromes.

    Science.gov (United States)

    Komrokji, Rami S; Kulasekararaj, Austin; Al Ali, Najla H; Kordasti, Shahram; Bart-Smith, Emily; Craig, Benjamin M; Padron, Eric; Zhang, Ling; Lancet, Jeffrey E; Pinilla-Ibarz, Javier; List, Alan F; Mufti, Ghulam J; Epling-Burnette, Pearlie K

    2016-05-01

    Immune dysregulation and altered T-cell hemostasis play important roles in the pathogenesis of myelodysplastic syndromes (MDS). Recent studies suggest an increased risk of MDS among patients with autoimmune diseases. Here, we investigated the prevalence of autoimmune diseases among MDS patients, comparing characteristics and outcomes in those with and without autoimmune diseases. From our study group of 1408 MDS patients, 391 (28%) had autoimmune disease, with hypothyroidism being the most common type, accounting for 44% (n = 171) of patients (12% among all MDS patients analyzed). Other autoimmune diseases with ≥5% prevalence included idiopathic thrombocytopenic purpura in 12% (n = 46), rheumatoid arthritis in 10% (n = 41), and psoriasis in 7% (n = 28) of patients. Autoimmune diseases were more common in female MDS patients, those with RA or RCMD WHO subtype, and those who were less dependent on red blood cell transfusion. Median overall survival (OS) was 60 months (95% CI, 50-70) for patients with autoimmune diseases versus 45 months (95% CI, 40-49) for those without (log-rank test, P = 0.006). By multivariate analysis adjusting for revised IPSS and age >60 years, autoimmune diseases were a statistically significant independent factor for OS (HR 0.78; 95% CI, 0.66-0.92; P = 0.004). The rate of acute myeloid leukemia (AML) transformation was 23% (n = 89) in MDS patients with autoimmune disease versus 30% (n = 301) in those without (P = 0.011). Patient groups did not differ in response to azacitidine or lenalidomide treatment. Autoimmune diseases are prevalent among MDS patients. MDS patients with autoimmune diseases have better OS and less AML transformation.

  1. Overlap syndromes among autoimmune liver diseases

    Institute of Scientific and Technical Information of China (English)

    Christian Rust; Ulrich Beuers

    2008-01-01

    The three major immune disorders of the liver are autoimmune hepatitis (AIH),primary biliary cirrhosis (PBC) and primary sclerosing cholangitis (PSC).Variant forms of these diseases are generally called overlap syndromes,although there has been no standardised definition.Patients with overlap syndromes present with both hepatitic and cholestatic serum liver tests and have histological features of AIH and PBC or PSC.The AIH-PBC overlap syndrome is the most common form,affecting almost 10% of adults with AIH or PBC.Single cases of AIH and autoimmune cholangitis (AMA-negative PBC) overlap syndrome have also been reported.The AIH-PSC overlap syndrome is predominantly found in children,adolescents and young adults with AIH or PSC.Interestingly,transitions from one autoimmune to another have also been reported in a minority of patients,especially transitions from PBC to AIH-PBC overlap syndrome.Overlap syndromes show a progressive course towards liver cirrhosis and liver failure without treatment.Therapy for overlap syndromes is empiric,since controlled trials are not available in these rare disorders.Anticholestatic therapy with ursodeoxycholic acid is usually combined with immunosuppressive therapy with corticosteroids and/or azathioprine in both AIH-PBC and AIH-PSC overlap syndromes.In end-stage disease,liver transplantation is the treatment of choice.

  2. Autoimmune lymphoproliferative syndrome (ALPS): a rare cause of immune cytopenia.

    Science.gov (United States)

    John, M Joseph; Rajasekhar, Reena; Mathews, Vikram

    2008-02-01

    Autoimmune Lymphoproliferative syndrome (ALPS) is an inherited disorder manifesting with autoimmune cytopenia, lymphadenopathy and splenomegaly. The differential diagnosis includes infections, autoimmune disorders or malignancies. The disease is characterized by accumulation of double negative (CD3+ CD4- CD8-) T cells (DNT) in the peripheral blood. We describe a case and review the literature.

  3. Endocrine autoimmunity in Turner syndrome

    Science.gov (United States)

    2013-01-01

    Background Turner syndrome is caused by numeric and structural abnormalities of the X chromosome. An increased frequency of autoimmunity as well as an elevated incidence of autoantibodies was observed in Turner patients. The aim of this study was to conduct a retrospective analysis of the incidence of autoimmunity in 66 Italian patients affected by Turner syndrome. Methods Sixty-six unselected and consecutive Italian Turner patients were recruited. The association between age, karyotype and the presence of clinical/pre-clinical autoimmune disorders and of autoantibodies was examined. Results Out of the 66 Turner patients, 26 had thyroid autoimmune disorders (39.4%), 14 patients had Hashimoto’s thyroiditis with clinical or subclinical hypothyroidism (21.2%) and 12 patients had circulating anti-thyroid antibodies, echographic pattern of diffuse hypoechogenicity and normal thyroid hormone levels (18.2%). None were affected by Graves’ disease. We analyzed the overall incidence of thyroid autoimmunity within the 3 different age groups 0–9.9, 10–19.9 and 20–29.9 years. No statistically significant difference was observed in the incidence of thyroid autoimmunity within the age-groups (χ2-test p > 0.05). Out of the 66 patients, 31 patients had the 45,X karyotype; within this first group 14 out of 31 patients were affected by autoimmune thyroid disease. A second group of 29 patients included 19 patients with mosaicism, 5 patients with deletions and 5 patients with ring chromosome; out of these 29 patients 7 were affected by autoimmune thyroid disease. A third group included 6 patients with X isochromosome; 5 out of 6 were affected by autoimmune thyroid disease. A statistically significant difference in the frequency of thyroid autoimmunity within the different karyotype groups was observed (χ2-test p = 0.0173). When comparing the X isochromosome group with the pooled group of other karyotypes, of note, the frequency of thyroid autoimmunity was

  4. A rare combination of type 3 autoimmune polyendocrine syndrome (APS-3) or multiple autoimmune syndrome (MAS-3)

    OpenAIRE

    Betterle, Corrado; Garelli, Silvia; Coco, Graziella; Burra, Patrizia

    2014-01-01

    Context Type 3 autoimmune polyendocrine syndrome (APS-3) is defined by the presence of an autoimmune thyroid disease and another autoimmune illness, excluding Addison’s disease; this is a frequent combination. Case presentation We report the case of a 55 years old female patient with APS-3, with seven clinical or latent autoimmune manifestations. At 49 years of age she was admitted at the General Hospital for leukopenia, weight loss, tremors, anxiety and diarrhea. The personal history reveale...

  5. Rett syndrome: An autoimmune disease?

    Science.gov (United States)

    De Felice, Claudio; Leoncini, Silvia; Signorini, Cinzia; Cortelazzo, Alessio; Rovero, Paolo; Durand, Thierry; Ciccoli, Lucia; Papini, Anna Maria; Hayek, Joussef

    2016-04-01

    Rett syndrome (RTT) is a devastating neurodevelopmental disease, previously included into the autistic spectrum disorders, affecting almost exclusively females (frequency 1:10,000). RTT leads to intellective deficit, purposeful hands use loss and late major motor impairment besides featuring breathing disorders, epilepsy and increased risk of sudden death. The condition is caused in up to 95% of the cases by mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene. Our group has shown a number of previously unrecognized features, such as systemic redox imbalance, chronic inflammatory status, respiratory bronchiolitis-associated interstitial lung disease-like lung disease, and erythrocyte morphology changes. While evidence on an intimate involvement of MeCP2 in the immune response is cumulating, we have recently shown a cytokine dysregulation in RTT. Increasing evidence on the relationship between MeCP2 and an immune dysfunction is reported, with, apparently, a link between MECP2 gene polymorphisms and autoimmune diseases, including primary Sjögren's syndrome, systemic lupus erythematosus, rheumatoid arthritis, and systemic sclerosis. Antineuronal (i.e., brain proteins) antibodies have been shown in RTT. Recently, high levels of anti-N-glucosylation (N-Glc) IgM serum autoantibodies [i.e., anti-CSF114(N-Glc) IgMs] have been detected by our group in a statistically significant number of RTT patients. In the current review, the Authors explore the current evidence, either in favor or against, the presence of an autoimmune component in RTT.

  6. [Coexistence of autoimmune polyglandular syndrome type 3 with diabetes insipidus].

    Science.gov (United States)

    Krysiak, Robert; Okopień, Bogusław

    2015-01-01

    Autoimmune polyglandular syndromes are conditions characterized by the combination of two or more organ-specific disorders. The underestimation oftheir real frequency probable results from physicians' inadequate knowledge of these clinical entities and sometimes their atypical clinical presentation. Because they comprise a wide spectrum of autoimmune disorders, autoimmune polyglandular syndromes are divided into four types, among which type-3 is the most common one. In this article, we report the case of a young female, initially diagnosed with diabetes mellitus who several years later developed full-blown autoimmune polyglandular syndrome type 3 consisting of autoimmune thyroid disorder and latent autoimmune diabetes in adults.The discussed case suggests that in selected patients diabetes insipidus may coexist with autoimmune endocrinopathies and nonendocrine autoimmunopathies, as well as that in some patients idiopathic diabetes insipidus may be secondary to lymphocytic infiltration and destruction of the hypothalamic supraoptic and paraventricular nuclei and/or the supraoptic-hypophyseal tract

  7. Autoimmune Polyglandular Syndrome Type 1

    Directory of Open Access Journals (Sweden)

    Vedeswari C Ponranjini

    2012-01-01

    Full Text Available Autoimmune Polyglandular Syndrome (APS Type 1 is a rare hereditary disorder that damages organs in the body. This disease entity is the result of a mutation in the AIRE gene. It is characterized by three classic clinical features - hypoparathyroidism, Addison′s disease, and chronic mucocutaneous candidiasis. For a patient to be diagnosed as having APS Type 1 syndrome at least two of these features needs to be present. The third entity may develop as the disease progresses. We report a case of a 35-year-old female patient with a history of seizure from the age of 11 years, who was managed with anticonvulsant drugs. With worsening of the seizure episodes, patient was diagnosed to have hypoparathyroidism together with the manifestations of oral candidiasis, nails dystrophy, enamel hypoplasia, and hypogonadism. A diagnosis of APS-1 was considered. The facility for genetic analysis of the AIRE gene mutation was not accessible, as the test costs were prohibitive and not affordable for the patient. Patient management was directed to treating individual disease components. However, cerebral and dental changes were irreversible.

  8. Thyroid autoimmunity and polyglandular endocrine syndromes.

    Science.gov (United States)

    Wémeau, Jean-Louis; Proust-Lemoine, Emmanuelle; Ryndak, Amélie; Vanhove, Laura

    2013-01-01

    Even though autoimmune thyroiditis is considered as the most emblematic type of organ-specific autoimmune disorder of autoimmunity, autoimmune thyroid diseases can be associated with other autoimmune endocrine failures or non-endocrine diseases (namely vitiligo, pernicious anemia, myasthenia gravis, autoimmune gastritis, celiac disease, hepatitis). Thyroid disorders, which are the most frequent expression of adult polyendocrine syndrome type 2, occur concomitantly with or secondarily to insulinodependent diabetes, premature ovarian failure, Addison's disease (Schmidt syndrome, or Carpenter syndrome if associated with diabetes). Testicular failure and hypoparathyroidism are unusual. The disease is polygenic and multifactorial. Disorders of thyroid autoimmunity are, surprisingly, very rare in polyendocrine syndrome type 1 (or APECED) beginning during childhood. They are related to mutations of the AIRE gene that encodes for a transcriptional factor implicated in central and peripheral immune tolerance. Hypothyroidism can also be observed in the very rare IPEX and POEMS syndromes.

  9. Primary biliary cirrhosis--autoimmune hepatitis overlap syndrome associated with dermatomyositis, autoimmune thyroiditis and antiphospholipid syndrome.

    Science.gov (United States)

    Pamfil, Cristina; Candrea, Elisabeta; Berki, Emese; Popov, Horațiu I; Radu, Pompilia I; Rednic, Simona

    2015-03-01

    Autoimmune liver diseases may be associated with extrahepatic autoimmune pathology. We report the case of a 52-year old woman who initially presented to the gastroenterology department for extreme fatigue, pale stools, dark urine and pruritus. Laboratory tests showed significant cholestasis and elevation of aminotransferase levels. Immunological tests revealed positive antinuclear (ANA=1:320) and antimitochondrial antibodies (AMA=1:40) with negative anti-smooth muscle and liver kidney microsomal type 1 antibodies. The biopsy was compatible with overlap syndrome type 1. The patient was commenced on immunosuppressive therapy according to standard of care (azathioprine 50mg, ursodeoxycholic acid and prednisone 0.5mg/kg), with moderate biochemical improvement. She subsequently developed proximal symmetrical weakness and cutaneous involvement and was diagnosed with biopsy-proven dermatomyositis. The immunosuppressive regimen was intensified to 150 mg azathioprine. At the three-month follow-up, her symptoms subsided and aminotransferases and muscle enzymes normalized. Upon further investigation the patient was diagnosed with autoimmune thyroiditis and antiphospholipid syndrome. To our knowledge, this is the first case of primary biliary cirrhosis - autoimmune hepatitis overlap syndrome associated with dermatomyositis, autoimmune thyroiditis and antiphospholipid syndrome.

  10. Autoimmune polyglandular syndrome in a 13-year old girl

    DEFF Research Database (Denmark)

    Borgwardt, L.; Pedersen, P.; Peitersen, B.

    2008-01-01

    Autoimmune polyglandular syndrome (APS) is an entity, defined by autoimmunity towards two or more endocrine organs. APS is classified in 3 subgroups (type-1, type-2a, type-2b), according to the organs involved. A case is presented of a 13-year old girl referred to the Department of Paediatrics...

  11. Autoimmune diseases in women with Turner's syndrome

    DEFF Research Database (Denmark)

    Jørgensen, Kristian T; Rostgaard, Klaus; Bache, Iben

    2010-01-01

    OBJECTIVE: In terms of number of X chromosomes, women with Turner's syndrome cytogenetically resemble men. An increased risk of autoimmune diseases has been observed among women with Turner's syndrome. This study was undertaken to investigate whether the autoimmune disease profile in women...... with Turner's syndrome is characterized by diseases with a female or male predominance. METHODS: Using the Danish Cytogenetic Central Register, the Danish National Patient Register, and the Danish Civil Registration System, we estimated relative risk of 46 different autoimmune diseases in a cohort of 798...... Danish women with Turner's syndrome followed up for 12,461 person-years between 1980 and 2004. Standardized incidence ratios (SIRs) of first hospitalization for autoimmune disease and 95% confidence intervals (95% CIs) were used as measures of relative risk. RESULTS: The overall risk of autoimmune...

  12. Achalasia in a Patient with Polyglandular Autoimmune Syndrome Type II

    Directory of Open Access Journals (Sweden)

    Bashar S. Amr

    2015-05-01

    Full Text Available Achalasia is a rare disease characterized by aperistalsis of the esophageal body and failure of the lower esophageal sphincter to relax. The etiology of this disease remains unknown. Polyglandular autoimmune syndrome type II is a well-identified disease characterized by the occurrence of autoimmune Addison's disease in combination with autoimmune thyroid disease and/or type 1 diabetes mellitus. We report a case that suggests autoimmunity and immunogenicity as a probable contributing factor for association of these two rare disorders.

  13. Antiphospholipid antibody syndrome and autoimmune diseases.

    Science.gov (United States)

    Ostrowski, Rochella A; Robinson, John A

    2008-02-01

    The arbitrary division between antiphospholipid antibody syndrome and secondary antiphospholipid antibody syndrome has not proven useful. Antiphospholipid antibodies in the absence of antiphospholipid antibody syndrome often occur as epiphenomena in many autoimmune diseases. They are very common in systemic lupus erythematosus. Antiphospholipid antibody syndrome is a significant comorbidity in lupus but is uncommon in Sjögren's syndrome, rheumatoid arthritis, scleroderma, and systemic vasculitis. Evidence is growing that antiphospholipid antibodies may have a pathogenic role in pulmonary hypertension and accelerated atherosclerosis of autoimmune diseases.

  14. [Type 1 diabetes and autoimmune polyendocrine syndromes].

    Science.gov (United States)

    Queiroz, Márcia S

    2008-03-01

    Type 1 diabetes (T1D) is associated with autoimmune thyroid disease (AIT), celiac disease (CD), Addison's disease (AD), and other autoimmune diseases. These diseases can occur simultaneously in defined syndromes with distinct pathophysiology and characteristics: autoimmune polyendocrine syndromes (APSs) and the immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX). APSs were initially defined as a multiple endocrine gland insufficiency associated to an autoimmune disease in a patient. APS-1 is characterized by the evidence of chronic candidiasis, chronic hypoparathyroidism, AD and T1D could be present as part of this syndrome. The combination of autoimmune adrenal insufficiency with AIT and/or type 1 autoimmune diabetes mellitus defines APS-2. AIT associated to other autoimmune diseases (excluding AD and/or hypoparathyroidism) are the main characteristics of APS-3. Different clinical combinations of autoimmune diseases which were not included in the previous groups are the characteristics of APS-4. IPEX is a recessive disorder characterized by the neonatal onset of T1D, infections, enteropathy, thrombocytopenia and anemia, as well as endocrinopathy, eczema and cachexia. These disorders are not common, but their consequences can be life threatening when the diagnosis is overlooked, and the treatment is the same prescribed for isolated disease presentation.

  15. The multiple autoimmune syndromes. A clue for the autoimmune tautology.

    Science.gov (United States)

    Anaya, Juan-Manuel; Castiblanco, John; Rojas-Villarraga, Adriana; Pineda-Tamayo, Ricardo; Levy, Roger A; Gómez-Puerta, José; Dias, Carlos; Mantilla, Ruben D; Gallo, Juan Esteban; Cervera, Ricard; Shoenfeld, Yehuda; Arcos-Burgos, Mauricio

    2012-12-01

    The multiple autoimmune syndromes (MAS) consist on the presence of three or more well-defined autoimmune diseases (ADs) in a single patient. The aim of this study was to analyze the clinical and genetic characteristics of a large series of patients with MAS. A cluster analysis and familial aggregation analysis of ADs was performed in 84 patients. A genome-wide microsatellite screen was performed in MAS families, and associated loci were investigated through the pedigree disequilibrium test. Systemic lupus erythematosus (SLE), autoimmune thyroid disease (AITD), and Sjögren's syndrome together were the most frequent ADs encountered. Three main clusters were established. Aggregation for type 1 diabetes, AITD, SLE, and all ADs as a trait was found. Eight loci associated with MAS were observed harboring autoimmunity genes. The MAS represent the best example of polyautoimmunity as well as the effect of a single genotype on diverse phenotypes. Its study provides important clues to elucidate the common mechanisms of ADs (i.e., autoimmune tautology).

  16. Postural Orthostatic Tachycardia With Chronic Fatigue After HPV Vaccination as Part of the "Autoimmune/Auto-inflammatory Syndrome Induced by Adjuvants": Case Report and Literature Review.

    Science.gov (United States)

    Tomljenovic, Lucija; Colafrancesco, Serena; Perricone, Carlo; Shoenfeld, Yehuda

    2014-01-01

    We report the case of a 14-year-old girl who developed postural orthostatic tachycardia syndrome (POTS) with chronic fatigue 2 months following Gardasil vaccination. The patient suffered from persistent headaches, dizziness, recurrent syncope, poor motor coordination, weakness, fatigue, myalgias, numbness, tachycardia, dyspnea, visual disturbances, phonophobia, cognitive impairment, insomnia, gastrointestinal disturbances, and a weight loss of 20 pounds. The psychiatric evaluation ruled out the possibility that her symptoms were psychogenic or related to anxiety disorders. Furthermore, the patient tested positive for ANA (1:1280), lupus anticoagulant, and antiphospholipid. On clinical examination she presented livedo reticularis and was diagnosed with Raynaud's syndrome. This case fulfills the criteria for the autoimmune/auto-inflammatory syndrome induced by adjuvants (ASIA). Because human papillomavirus vaccination is universally recommended to teenagers and because POTS frequently results in long-term disabilities (as was the case in our patient), a thorough follow-up of patients who present with relevant complaints after vaccination is strongly recommended.

  17. Differentiating (131)I Radiation Sialadenitis From Autoimmune (Sjögren Syndrome) Sialadenitis: Case Report.

    Science.gov (United States)

    Mandel, Louis; Greene, Loren Wissner

    2017-04-17

    Radioactive iodine ((131)I) is used effectively for the treatment of differentiated thyroid cancers. Because it is actively secreted by the salivary glands, radiation damage to these glands can occur. Obstructive swellings after mealtime salivary stimulation are common occurrences. Dry mouth is not usually seen if low doses of (131)I are used. A subjective complaint of xerostomia in a patient treated with (131)I 75.8 mCi proved to be related to the simultaneous presence of Sjögren syndrome (SS). Serologic, histologic, scintigraphic, and salivary volume findings and the patient's subjective complaints served to establish the pre-existence of SS. Copyright © 2017 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  18. Refractory autoimmune hemolytic anemia in a patient with DiGeorge syndrome treated successfully with plasma exchange: a case report and review of the literature.

    Science.gov (United States)

    Damlaj, Moussab; Séguin, Chantal

    2014-11-01

    Warm antibody autoimmune hemolytic anemia (AIHA) results from targeted antibodies towards the red blood cells (RBCs) and can be either idiopathic or secondary to certain diseases, such as autoimmune disorders or malignancy, drugs, or infection. Patients with DiGeorge syndrome are particularly vulnerable to autoimmune conditions secondary to thymic hypoplasia and dysfunction of the immune system. First-line therapy for AIHA consists of corticosteroids, with most patients showing signs of response. Relapses are not uncommon and are treated with splenectomy or rituximab. There is a paucity of reports in the literature regarding treatment options beyond this stage. Herein, we describe an unusual case of a 20-year-old female affected by DiGeorge syndrome with a history of immune thrombocytopenia (ITP), who presented with life-threatening AIHA. Standard first- and second-line therapeutic modalities were ineffective in controlling her disease and she ultimately underwent plasma exchange therapy with successful resolution of hemolysis. At her last follow-up, one year after her initial presentation, she remains clinically well without signs of hemolysis. We conclude that in refractory cases of warm AIHA, plasma exchange therapy can be a valuable tool in the therapeutic armamentarium.

  19. Paraneoplastic Pemphigus: A Paraneoplastic Autoimmune Multiorgan Syndrome or Autoimmune Multiorganopathy?

    Directory of Open Access Journals (Sweden)

    Vikram K. Mahajan

    2012-01-01

    Full Text Available Paraneoplastic pemphigus (PNP, a clinically and immunopathologically distinct mucocutaneous blistering dermatosis, is a severe form of autoimmune multiorgan syndrome generally associated with poor therapeutic outcome and high mortality. This IgG-mediated disease is initiated by an obvious or occult lymphoproliferative disorder in most cases. Clinically severe mucositis, and polymorphic blistering skin eruptions, and histologically acantholysis, keratinocyte necrosis and interface dermatitis are its hallmark features. A 58-year-old female presented with recurrent, severe, recalcitrant stomatitis and widespread erosions/blistering lesions of one-year duration. Treatment with repeated courses of systemic corticosteroids at a peripheral center would provide temporary relief. She also had fever, productive cough, odynophagia and poor oral intake, herpes zoster ophthalmicus, pain in the abdomen, and watery diarrhea. An array of investigations revealed chronic lymphocytic leukemia (CLL, mediastinal and para-aortic lymphadenopathy, bronchiolitis obliterans, and vertebral osteoporosis/fractures. With the diagnosis of CLL-associated PNP she was managed with dexamethasone-cyclophosphamide pulse (DCP therapy for 3 cycles initially, followed by COP regimen (cyclophosphamide, vincristine, and prednisolone for 5 cycles. Remission is being maintained with chlorambucil and prednisolone pulse therapy once in 3 weeks with complete resolution of skin lesions and adequate control of CLL.

  20. A Patient with Postpartum Hypopituitarism (Sheehan's Syndrome Developed Postpartum Autoimmune Thyroiditis (Transient Thyrotoxicosis and Hypothyroidism: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Nobuyuki Takasu

    2011-01-01

    Full Text Available A 36-year-old woman with postpartum hypopituitarism (Sheehan's syndrome: SS developed postpartum autoimmune thyroiditis (PPAT. She delivered a baby by Caesarean section (620 mL blood loss. At 1 month post partum, she developed thyrotoxicosis due to painless thyroiditis (autoimmune destructive thyroiditis. She was positive for antithyroid antibodies. Postpartum and hypoadrenalism-induced exacerbation of autoimmune thyroiditis caused the thyrotoxicosis due to autoimmune destructive thyroiditis. ACTH was undetectable. She had ACTH deficiency and secondary hypoadrenalism. Hydrocortisone was started. At 6 months post partum, she was referred to us with hypothyroidism. Thyroxine was administered. She had thyrotoxicosis at 1-2 months post partum and then hypothyroidism. She was diagnosed with PPAT. She had hypopituitarism, ACTH deficiency (secondary hypoadrenalism, low prolactin with agalactia, and low LH with failure to resume regular menses. She had empty sella on MRI. She was diagnosed with SS. Three cases with SS have been reported to develop PPAT. Postpartum immunological rebounds and hypoadrenalism-induced immunological alterations (or a combination of the two might have been responsible for the PPAT.

  1. A Patient with Postpartum Hypopituitarism (Sheehan's Syndrome) Developed Postpartum Autoimmune Thyroiditis (Transient Thyrotoxicosis and Hypothyroidism): A Case Report and Review of the Literature.

    Science.gov (United States)

    Takasu, Nobuyuki; Nakayama, Yoshirou

    2011-01-01

    A 36-year-old woman with postpartum hypopituitarism (Sheehan's syndrome: SS) developed postpartum autoimmune thyroiditis (PPAT). She delivered a baby by Caesarean section (620 mL blood loss). At 1 month post partum, she developed thyrotoxicosis due to painless thyroiditis (autoimmune destructive thyroiditis). She was positive for antithyroid antibodies. Postpartum and hypoadrenalism-induced exacerbation of autoimmune thyroiditis caused the thyrotoxicosis due to autoimmune destructive thyroiditis. ACTH was undetectable. She had ACTH deficiency and secondary hypoadrenalism. Hydrocortisone was started. At 6 months post partum, she was referred to us with hypothyroidism. Thyroxine was administered. She had thyrotoxicosis at 1-2 months post partum and then hypothyroidism. She was diagnosed with PPAT. She had hypopituitarism, ACTH deficiency (secondary hypoadrenalism), low prolactin with agalactia, and low LH with failure to resume regular menses. She had empty sella on MRI. She was diagnosed with SS. Three cases with SS have been reported to develop PPAT. Postpartum immunological rebounds and hypoadrenalism-induced immunological alterations (or a combination of the two) might have been responsible for the PPAT.

  2. Autoimmune channelopathies in paraneoplastic neurological syndromes.

    Science.gov (United States)

    Joubert, Bastien; Honnorat, Jérôme

    2015-10-01

    Paraneoplastic neurological syndromes and autoimmune encephalitides are immune neurological disorders occurring or not in association with a cancer. They are thought to be due to an autoimmune reaction against neuronal antigens ectopically expressed by the underlying tumour or by cross-reaction with an unknown infectious agent. In some instances, paraneoplastic neurological syndromes and autoimmune encephalitides are related to an antibody-induced dysfunction of ion channels, a situation that can be labelled as autoimmune channelopathies. Such functional alterations of ion channels are caused by the specific fixation of an autoantibody upon its target, implying that autoimmune channelopathies are usually highly responsive to immuno-modulatory treatments. Over the recent years, numerous autoantibodies corresponding to various neurological syndromes have been discovered and their mechanisms of action partially deciphered. Autoantibodies in neurological autoimmune channelopathies may target either directly ion channels or proteins associated to ion channels and induce channel dysfunction by various mechanisms generally leading to the reduction of synaptic expression of the considered channel. The discovery of those mechanisms of action has provided insights on the regulation of the synaptic expression of the altered channels as well as the putative roles of some of their functional subdomains. Interestingly, patients' autoantibodies themselves can be used as specific tools in order to study the functions of ion channels. This article is part of a Special Issue entitled: Membrane channels and transporters in cancers. Copyright © 2015 Elsevier B.V. All rights reserved.

  3. Hypercalcemia in a patient with autoimmune polyglandular syndrome

    Directory of Open Access Journals (Sweden)

    Svetlana Katsnelson

    2012-04-01

    Full Text Available Hypercalcemia is a rare condition in patients with autoimmune polyglandular syndrome (APS-1, usually characterized by hypoparathyroidism and hypocalcemia, and it can develop due to simultaneous adrenal insufficiency. We present a case of severe hypercalcemia in a patient with APS-1, found to have adrenal insufficiency secondary to steroid non-compliance.

  4. Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II

    Directory of Open Access Journals (Sweden)

    Subodh Banzal

    2014-01-01

    Full Text Available Autoimmune polyendocrine syndrome Type II (APS II, also known as polyglandular autoimmune syndrome Type II or Schmidt syndrome, is constellations of multiple endocrine gland insufficiencies. It is a rare, but most common of the immunoendocrinopathy syndrome. It is characterized by the obligatory occurrence of autoimmune Addison′s disease in combination with thyroid autoimmune diseases and/or Type I diabetes, hypogonadism, hypophysitis, myasthenia gravis, vitiligo, alopecia, pernicious anemia, and celiac disease. Here, we report a case of 38-year-old female patient presented with shock, further diagnosed to have APS II.

  5. Successful Management of Insulin Allergy and Autoimmune Polyendocrine Syndrome Type 4 with Desensitization Therapy and Glucocorticoid Treatment: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Joselyn Rojas

    2014-01-01

    Full Text Available Introduction. Insulin allergy is a rare complication of insulin therapy, especially in type 1 diabetes mellitus (T1DM. Key manifestations are hypersensitivity-related symptoms and poor metabolic control. T1DM, as well as insulin allergy, may develop in the context of autoimmune polyendocrine syndrome (APS, further complicating management. Case Report. A 17-year-old male patient, diagnosed with T1DM, was treated with various insulin therapy schemes over several months, which resulted in recurrent anaphylactoid reactions and poor glycemic control, after which he was referred to our Endocrinology and Immunology Department. A prick test was carried out for all commercially available insulin presentations and another insulin scheme was designed but proved unsuccessful. A desensitization protocol was started with Glargine alongside administration of Prednisone, which successfully induced tolerance. Observation of skin lesions typical of vitiligo prompted laboratory workup for other autoimmune disorders, which returned positive for autoimmune gastritis/pernicious anemia. These findings are compatible with APS type 4. Discussion. To our knowledge, this is the first documented case of insulin allergy in type 4 APS, as well as this particular combination in APS. Etiopathogenic components shared by insulin allergy and APS beg for further research in immunogenetics to further comprehend pathophysiologic aspects of these diseases.

  6. Autoimmune polyendocrine syndrome type 1 and NALP5, parathyroid autoantigen

    NARCIS (Netherlands)

    Alimohammadi, Mohammad; Bjorklund, Peyman; Hallgren, Asa; Pontynen, Nora; Szinnai, Gabor; Shikama, Noriko; Keller, Marcel P.; Ekwall, Olov; Kinkel, Sarah A.; Husebye, Eystein S.; Gustafsson, Jan; Rorsman, Fredrik; Peltonen, Leena; Betterle, Corrado; Perheentupa, Jaakko; Akerstrom, Goran; Westin, Gunnar; Scott, Hamish S.; Hollaender, Georg A.; Kampe, Olle

    2008-01-01

    Background: Autoimmune polyendocrine syndrome type 1 (APS-1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. Though recent studies concerning AIRE deficiency have begun to elucidate the molecular pathogenesis of organ-specific autoimmunity in patients

  7. Noonan's Syndrome and Autoimmune Thyroiditis

    Science.gov (United States)

    Vesterhus, Per; Aarskog, Dagfinn

    1973-01-01

    Thyroid abnormalities were studies in seven boys and three girls, 4- to 17-years-old, with Noonan's syndrome, characterized by mental retardation, ocular anomalies (wide spaced eyes, drooped eye lids, or strabismus), heart lesions, characteristics of Turner's syndrome, and normal karyotypes (chromosome arrangement). (MC)

  8. Brain imaging in cerebellar ataxia associated with autoimmune polyglandular syndrome type 2.

    Science.gov (United States)

    Manto, Mario; Jissendi, P

    2012-07-01

    Autoimmune polyglandular syndrome (APS) type 2 (Schmidt syndrome) is a disorder characterized by a combination of autoimmune adrenal insufficiency, autoimmune thyroid disease, and type 1 autoimmune diabetes mellitus. We describe the first case of subacute cerebellar syndrome associated with APS type 2. Brain magnetic resonance imaging showed atrophy of the cerebellum and the vermis, as well as of the anterior pituitary gland. Magnetic resonance spectroscopy showed decreased N-acetylaspartate/creatine ratio in the cerebellum and in the pons. Our findings expand the spectrum of neurological deficits in APS type 2 and underlines that cerebellar pathways may be a main target of the disorder. © 2010 by the American Society of Neuroimaging.

  9. Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient.

    Science.gov (United States)

    Leal-Seabra, Fatima; Costa, Gonçalo Sarmento; Coelho, Henrique Pereira; Oliveira, Agripino

    2016-12-15

    Autoimmune lymphoproliferative syndrome (ALPS) is characterised by massive enlargement of the lymphoid organs, autoimmune cytopenias and a predisposition to develop lymphoid malignancies. The basic defect is a disturbance of the lymphocyte apoptosis, and a high number of circulating TCRab CD3(+)CD4(-)CD8(-) T-cells (double-negative T cells (DNT cells)). We describe a case of a 41-year-old man with fever, hepatosplenomegaly, multiple lymphadenopathy, autoimmune haemolytic anaemia and severe thrombocytopenia. Peripheral blood immunophenotyping revealed elevation of the characteristic DNT cells in 8% and high levels of interleukin 10. Histopathological analysis of lymph nodes showed lymphadenitis with paracortical hyperplasia. It was assumed as a probable diagnosis of ALPS, and the procedure was to medicate the patient with steroids. As a result, a significant clinical improvement was achieved, and he has been in remission for 2 years. To our knowledge, this is the first case reported in a Portuguese adult patient.

  10. [Para-neoplastic autoimmune multi-organ syndrome associated with follicular lymphoma: a case report and literature review].

    Science.gov (United States)

    Chen, D; Lin, C Y; Han, X; Chen, B; Lu, Z H; Chang, X Y; Duan, M H

    2016-12-14

    Objective: To broaden our knowledge of para-neoplastic autoimmune multi-organ syndrome (PAMS). Methods: A patient with PAMS associated with follicular lymphoma and bronchiolitis obliterans treated in our hospital was retrospectively analyzed and the clinical features of PAMS were reviewed. Results: A 49-year-old female patient suffered from painful ulcers in the oral cavity and vagina, dry cough and dyspnea. Imaging examinations suggested multiple lymph node enlargements. Inguinal lymph node biopsy revealed follicular lymphoma. Although the oral and vaginal ulcers went into remission with glucocorticoid and thalidomide therapy and follicular lymphoma gained partial remission with six cycles of R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, prednisolone) chemotherapy, respiratory failure still progressed. Conclusion: PAMS should be considered in patients with unexplained oral mucosa ulcers and dyspnea, which didn't match with the chest image manifestations. Extensive work-up should be performed to find out the potential tumor after diagnosis of PAMS. Early diagnosis and complete removal of tumor were essential to PAMS treatment.

  11. Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report

    Directory of Open Access Journals (Sweden)

    Deep Dutta

    2012-01-01

    Full Text Available Hypoparathyroidism is most commonly isolated and idiopathic. Hypoparathyroidism in autoimmune polyendocrine syndrome type-2 (APS-2 is extremely rare with few isolated reports and usually presents late. We present perhaps for the first time, hypoparathyroidism being the initial manifestation of APS-2 which was diagnosed in a 32 year lady with tingling of the extremities along with hypocalcemic tetany for 15 years. She also had generalized acral and mucosal hyperpigmentation of 2 years duration. Investigations were significant for low calcium (7.1mg/dl, elevated phosphorus (4.8mg/dl, vitamin-D insufficiency (27.4ng/ml, low intact parathyroid hormone (2.3pg/ml, low basal (4.7mcg/dl and stimulated serum cortisol (9.2mcg/dl at half hour, 11.4mcg/dl at 1 hour post synacthen, elevated triiodothyronine (2.1ng/ml and free tetraiodothyronine (2.4ng/dl along with suppressed TSH (<0.005 U/L. Imaging relevaled mild cerebellar calcification, normal adrenals with diffuse uptake of Tc 99 - pertechnate. A diagnosis of hypoparathyroidism with Addison′s and Graves′ disease as a part of APS-2 was made. This report intends to highlight the clinical heterogeneity and varied presentation of APS-2. Routine screening of other hormonal function (especially adrenal function, thyroid function and blood glucose in a patient with diagnosed hypoparathyroidism is advisable to decrease the chances of missing APS-2.

  12. Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report.

    Science.gov (United States)

    Dutta, Deep; Maisnam, Indira; Ghosh, Sujoy; Dasgupta, Ranen; Mukhopadhyay, Satinath; Chowdhury, Subhankar

    2012-12-01

    Hypoparathyroidism is most commonly isolated and idiopathic. Hypoparathyroidism in autoimmune polyendocrine syndrome type-2 (APS-2) is extremely rare with few isolated reports and usually presents late. We present perhaps for the first time, hypoparathyroidism being the initial manifestation of APS-2 which was diagnosed in a 32 year lady with tingling of the extremities along with hypocalcemic tetany for 15 years. She also had generalized acral and mucosal hyperpigmentation of 2 years duration. Investigations were significant for low calcium (7.1mg/dl), elevated phosphorus (4.8mg/dl), vitamin-D insufficiency (27.4ng/ml), low intact parathyroid hormone (2.3pg/ml), low basal (4.7mcg/dl) and stimulated serum cortisol (9.2mcg/dl at half hour, 11.4mcg/dl at 1 hour post synacthen), elevated triiodothyronine (2.1ng/ml) and free tetraiodothyronine (2.4ng/dl) along with suppressed TSH (<0.005 U/L). Imaging relevaled mild cerebellar calcification, normal adrenals with diffuse uptake of Tc(99)- pertechnate. A diagnosis of hypoparathyroidism with Addison's and Graves' disease as a part of APS-2 was made. This report intends to highlight the clinical heterogeneity and varied presentation of APS-2. Routine screening of other hormonal function (especially adrenal function, thyroid function and blood glucose) in a patient with diagnosed hypoparathyroidism is advisable to decrease the chances of missing APS-2.

  13. High fasting serum insulin level due to autoantibody interference in insulin immunoassay discloses autoimmune insulin syndrome: a case report.

    Science.gov (United States)

    Lamy, Pierre-Jean; Sault, Corinne; Renard, Eric

    2016-08-01

    Insulin-antibodies are a cause of misleading results in insulin immunoassays. They may also mediate deleterious blood glucose variations. A patient presented with overtiredness, recurrent episodes of sweating, dizziness and fainting fits. A fasting serum insulin assay performed on a Modular platform (Modular analytic E170, Roche Diagnostic, Meylan, France) showed a highly elevated value of 194.7 mIU/L, whereas on the same sample glucose and C-peptide levels were normal. Other immunometric insulin assays were performed, as well as antibodies anti-insulin radiobinding assay (RBA) and gel filtration chromatography (GFC). While complementary insulin assays yielded closer to normal fasting levels, the free insulin concentration assessed after PEG precipitation was 14.0 mIU/L and the RBA was positive. GFC revealed that most of the insulin was complexed with a 150 kDa molecule, corresponding to an immunoglobulin G (IgG). A high fasting serum insulin level in a patient with neuroglucopenic symptoms was related to a high insulin-antibody level, suggesting an insulin autoimmune syndrome.

  14. Prolonged extracorporeal membrane oxygenation therapy for severe acute respiratory distress syndrome in a child affected by rituximab-resistant autoimmune hemolytic anemia: a case report

    Directory of Open Access Journals (Sweden)

    Beretta Chiara

    2009-04-01

    Full Text Available Abstract Introduction Autoimmune hemolytic anemia in children younger than 2 years of age is usually characterized by a severe course, with a mortality rate of approximately 10%. The prolonged immunosuppression following specific treatment may be associated with a high risk of developing severe infections. Recently, the use of monoclonal antibodies (rituximab has allowed sustained remissions to be obtained in the majority of pediatric patients with refractory autoimmune hemolytic anemia. Case presentation We describe the case of an 8-month-old Caucasian girl affected by a severe form of autoimmune hemolytic anemia, which required continuous steroid treatment for 16 months. Thereafter, she received 4 weekly doses of rituximab (375 mg/m2/dose associated with steroid therapy, which was then tapered over the subsequent 2 weeks. One month after the last dose of rrituximab, she presented with recurrence of severe hemolysis and received two more doses of rrituximab. The patient remained in clinical remission for 7 months, before presenting with a further relapse. An alternative heavy immunosuppressive therapy was administered combining cyclophosphamide 10 mg/kg/day for 10 days with methylprednisolone 40 mg/kg/day for 5 days, which was then tapered down over 3 weeks. While still on steroid therapy, the patient developed an interstitial pneumonia with Acute Respiratory Distress Syndrome, which required immediate admission to the intensive care unit where extracorporeal membrane oxygenation therapy was administered continuously for 37 days. At 16-month follow-up, the patient is alive and in good clinical condition, with no organ dysfunction, free from any immunosuppressive treatment and with a normal Hb level. Conclusions This case shows that aggressive combined immunosuppressive therapy may lead to a sustained complete remission in children with refractory autoimmune hemolytic anemia. However, the severe life-threatening complication presented by our

  15. Insulin autoimmune syndrome in 1 case and review of the literature%胰岛素自身免疫综合征1例

    Institute of Scientific and Technical Information of China (English)

    王艳

    2014-01-01

    目的:胰岛素自身免疫综合征(IAS)为少见疾病。通过报道1例IAS及文献复习,讨论IAS的诊治及预后。临床上对伴有自身免疫疾病、服用含巯基药物的高胰岛素性、低血糖症患者,应检测胰岛素自身抗体,以避免误诊和不必要的手术。%Insulin autoimmune syndrome(IAS) is a rare disease.Through the report of 1 case of IAS and review of the literature, we discuss the diagnosis and prognosis of IAS.Clinically.For some patients,such as associated with autoimmune diseases,taking high insulin of sulfydryl containing drugs,and hypoglycemia patients,insulin autoantibodies should be detected in order to avoid misdiagnosis and unnecessary operation.

  16. A case of autoimmune polyglandular syndrome-3C%自身免疫性多腺体综合征Ⅲ型C一例

    Institute of Scientific and Technical Information of China (English)

    程芳; 张磊; 刘毅; 李若虹; 李小静; 陈浩; 孙建方

    2011-01-01

    报道1例自身免疫性多腺体综合征Ⅲ型C.患者男,68岁,以胫前黏液性水肿半年就诊,曾有白癜风病史19年,10个月前出现甲状腺功能亢进症状和体征,多种抗甲状腺自身抗体明显升高,先后两次行放射性131I治疗后,甲状腺功能亢进症状明显改善.患者就诊时表情淡漠、突眼,胫前片状肿胀、增厚、呈橘皮样改变,躯干四肢多处色素脱失斑.白癜风常与多种自身免疫性疾病伴发,自身免疫在其发病中起了重要的作用,临床工作中应引起重视.%A case of autoimmune polyglandular syndrome-3C is reported.A 68-year-old male presented with a half-year history of pretibial myxedema and a 19-year history of vitiligo.Ten months prior to the presentation,the patient developed symptoms and signs of hyperthyroidism with the increase of multiple antithyroid autoantibody levels.After two sessions of treatment with radioiodine (131I),the symptoms and signs of hyperthyroidism markedly improved.On admission,the patient presented with indifferent expression,exophthalmos,bilateral pretibial swelling which gave an orange peel-like appearance,and many hypopigmented patches on the trunk and extremities.Autoimmunity exerts essential role in the pathogenesis of vitiligo which is often accompanied by many other autoimmune diseases.More attention should be given to this phenomenon in clinic.

  17. Is Tourette's syndrome an autoimmune disease?

    Science.gov (United States)

    Hoekstra, P J; Kallenberg, C G M; Korf, J; Minderaa, R B

    2002-01-01

    We provide a review of recent research findings which support the involvement of autoimmunity in childhood-onset tic disorders, in particular the presence of antineuronal autoantibodies, D8/17 B lymphocyte overexpression, a marker of chorea associated with streptococcal infection, and possible beneficial effects of immunomodulatory intervention. One of the most controversial areas in this field is the validity of the proposed PANDAS concept. Some researchers have delineated a putatively unique subgroup of patients, from the spectrum of illness encompassing Tourette's syndrome and obsessive-compulsive disorder (OCD), whose tics and obsessive-compulsive symptoms are shown to arise in response to beta-hemolytic streptococcal infections. They designated it by the term pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS). Herein we additionally present pros and cons concerning the concept of PANDAS. Finally, recommendations for future research directions are given.

  18. A Case Report of Nonvasculitic Autoimmune Inflammatory Meningoencephalitis with Sensory Ganglionopathy: A Rare Presentation of Sjögren Syndrome

    Directory of Open Access Journals (Sweden)

    João Peres

    2017-01-01

    Full Text Available A 68-year-old Caucasian female was admitted to the emergency department with a progressive history of behavioural symptoms and anxiety followed by visual and auditory hallucinations, forgetfulness, and impaired gait in the previous 3 months. On examination she was psychotic and had a postural and rest tremor of the upper limbs, cogwheel rigidity of the four limbs, retropulsion on standing position, and inability to walk. During the following 2 weeks she developed xerostomia and unilateral parotiditis that improved with steroids. A simultaneous improvement of the cognitive abilities allowed for the detection of sensory ataxia of the lower limbs. Sensory ganglionopathy was then detected with electrophysiological studies. A diagnosis of Sjögren syndrome was suspected and confirmed by salivary gland scintigraphy, Schirmer’s test, and submaxillary gland biopsy. We report a case of Sjögren syndrome associated with central and peripheral nervous system involvement, without sicca symptoms preceding the neurological clinical picture. The coexistence of ganglionopathy and a favourable response to immunosuppression are key features that can lead to the correct diagnosis in cases with atypical CNS symptoms, mimicking a rapidly progressive dementia.

  19. A Case Report of Nonvasculitic Autoimmune Inflammatory Meningoencephalitis with Sensory Ganglionopathy: A Rare Presentation of Sjögren Syndrome

    Science.gov (United States)

    Cruz, Simão; Oliveira, Rita; Santos, Luís; Valverde, Ana

    2017-01-01

    A 68-year-old Caucasian female was admitted to the emergency department with a progressive history of behavioural symptoms and anxiety followed by visual and auditory hallucinations, forgetfulness, and impaired gait in the previous 3 months. On examination she was psychotic and had a postural and rest tremor of the upper limbs, cogwheel rigidity of the four limbs, retropulsion on standing position, and inability to walk. During the following 2 weeks she developed xerostomia and unilateral parotiditis that improved with steroids. A simultaneous improvement of the cognitive abilities allowed for the detection of sensory ataxia of the lower limbs. Sensory ganglionopathy was then detected with electrophysiological studies. A diagnosis of Sjögren syndrome was suspected and confirmed by salivary gland scintigraphy, Schirmer's test, and submaxillary gland biopsy. We report a case of Sjögren syndrome associated with central and peripheral nervous system involvement, without sicca symptoms preceding the neurological clinical picture. The coexistence of ganglionopathy and a favourable response to immunosuppression are key features that can lead to the correct diagnosis in cases with atypical CNS symptoms, mimicking a rapidly progressive dementia. PMID:28182102

  20. Pituitary autoimmunity in patients with Sheehan's syndrome.

    Science.gov (United States)

    Goswami, Ravinder; Kochupillai, Narayana; Crock, Patricia A; Jaleel, Abdul; Gupta, Nandita

    2002-09-01

    Postpartum hemorrhage (PPH) is a frequent complication of pregnancy in India. Sheehan's description of postpartum hypopituitarism promoted the belief that PPH leads to necrosis of the enlarged pituitary gland of pregnancy and hypopituitarism. However, slow clinical progression suggests factors other than ischemia in its pathogenesis. Tissue necrosis could release sequestered antigens, triggering autoimmunity of the pituitary and delayed hypopituitarism in Sheehan's syndrome. Twenty-six consecutive patients with postpartum hypopituitarism were studied, 19 with Sheehan's syndrome based on a history of PPH and hormone profile suggesting pituitary failure [mean (SD) age 32.7 +/- 6.4 yr, duration of illness 5.5 +/- 3.1 yr], and seven patients with no history of PPH, categorized as "Other." Pituitary imaging and basal T(4), TSH, cortisol, LH, FSH, 17beta-estradiol, and autoantibodies against pituitary (PitAb) and thyroid (TMA) were evaluated. Controls included 28 healthy females without prior conception (22 +/- 5 yr) and 28 with prior conception (26 +/- 5 yr). Twelve of 19 (63.1%) patients with Sheehan's syndrome and one of seven in the Other group had PitAb against the 49-kDa autoantigen; neuron-specific enolase. Four of 28 (14.2%) controls without prior conception and 5 of 28 (17.8%) controls with prior conception had PitAb positivity (P Sheehan's syndrome, respectively). There was no significant difference in the mean serum hormone values and TMA positivity between patients with Sheehan's syndrome and the Other group as well as patients with or without PitAb positivity. Pituitary autoimmunity may play a role in the cause of hypopituitarism following PPH.

  1. Development of mixed-type autoimmune hemolytic anemia and Evans' syndrome following chicken pox infection in a case of low-titer cold agglutinin disease.

    Science.gov (United States)

    Tanaka, Yumi; Masuya, Masahiro; Katayama, Naoyuki; Miyata, Eri; Sugimoto, Yuka; Shibasaki, Tetsunori; Yamamura, Kentaro; Ohishi, Kohshi; Minami, Nobuyuki; Shiku, Hiroshi; Nobori, Tsutomu

    2006-10-01

    We describe a patient with low-titer cold agglutinin disease (CAD) who developed mixed-type autoimmune hemolytic anemia (AIHA) and idiopathic thrombocytopenia following chicken pox infection. At least 1 year before admission to hospital, the patient had mild hemolytic anemia associated with low-titer cold agglutinins. A severe hemolytic crisis and thrombocytopenia (Evans' syndrome) occurred several days after infection with chicken pox, and the patient was referred to our hospital. Serological findings revealed the presence of both cold agglutinins and warm-reactive autoantibodies against erythrocytes, and the diagnosis was mixed-type AIHA. Following steroid therapy, the hemoglobin (Hb) level and platelet count improved. The patient was closely followed over a 10-year period with recurrent documented hemolysis after viral or bacterial infections. Warm-reactive autoantibodies have not been detected in the last 2 years, and only the immunoglobulin M anti-I cold agglutinins with a low titer and wide thermal amplitude have remained unchanged. Therefore, the patient has received at least 10 mg prednisolone daily to maintain a Hb level of 10 g/dL. To the best of our knowledge, no adult case of low-titer CAD that has evolved into mixed-type AIHA and Evans' syndrome after chicken pox infection has been previously reported in the literature.

  2. A Difficult and Rare Diagnosis of Autoimmune Enteropathy in a Patient Affected by Down Syndrome.

    Science.gov (United States)

    Depince-Berger, Anne; Cremilieux, Clara; Rinaudo-Gaujous, Melanie; Genin, Christian; de Freminville, Benedicte; Lambert, Claude; Bruneau, J; Paul, Stephane

    2016-07-01

    Patients with Down syndrome are more susceptible to autoimmune pathologies, in particular endocrine or digestive diseases such as celiac disease. Autoimmune enteropathy is another form of digestive autoimmune disease, non-gluten-dependant, more often diagnosed in male neonates with immunodysregulation and polyendocrinopathy such as the Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome. It also exists in the adult, but this pathology is less known and therefore frequently under-diagnosed. Clinical manifestations are similar to celiac disease, but not improved after a gluten-free diet. Autoimmune enteropathy is frequently associated with other autoimmune diseases, such as thyroiditis, myasthenia gravis, lupus or immune deficiencies, as Common Variable Immunodeficiency. Pathological analysis of intestinal biopsies can frequently distinguish autoimmune enteropathy and celiac disease. Autoimmune enteropathy usually has an important lymphoplasmacytic infiltration of the mucosa and a lack of intraepithelial lymphocytes in the gastrointestinal mucosal surface, while celiac disease usually has a polymorph infiltration of the mucosa and an important intraepithelial lymphocytes infiltration. Nevertheless, the two pathological patterns may overlap. Here we report the first case of a patient with Down syndrome associated to autoimmune enteropathy (initially diagnosed as celiac disease), chronic pancreatitis and cutaneous lupus erythematosus. Even if autoimmune pathologies are much more common in patients with Down syndrome, we would like to report on this rare and original association found in our patient.

  3. Rhabdomyolysis and Autoimmune Variant Stiff-Person Syndrome.

    Science.gov (United States)

    Gangadhara, Shreyas; Gangadhara, Suhas; Gandhy, Chetan; Robertson, Derrick

    2016-10-24

    Stiff-person syndrome (SPS) is a rare neurologic disorder characterized by waxing and waning muscular rigidity, stiffness and spasms. Three subtypes have been described: paraneoplastic, autoimmune and idiopathic. Rhabdomyolysis has been described in the paraneoplastic variant, but to our knowledge no case has been reported involving the autoimmune variant. We report a case report of a 50-year-old man with history of SPS who presented with recurrent episodes of severe limb and back spasms. He was hospitalized on two separate occasions for uncontrollable spasms associated with renal failure and creatinine phosphokinase elevations of 55,000 and 22,000 U/L respectively. Laboratory tests were otherwise unremarkable. The acute renal failure resolved during both admissions with supportive management. Rhabdomyolysis has the potential to be fatal and early diagnosis is essential. It should be considered in patients who have SPS and are experiencing an exacerbation of their neurologic condition.

  4. Rhabdomyolysis and Autoimmune Variant Stiff-Person Syndrome

    Science.gov (United States)

    Gangadhara, Shreyas; Gangadhara, Suhas; Gandhy, Chetan; Robertson, Derrick

    2016-01-01

    Stiff-person syndrome (SPS) is a rare neurologic disorder characterized by waxing and waning muscular rigidity, stiffness and spasms. Three subtypes have been described: paraneoplastic, autoimmune and idiopathic. Rhabdomyolysis has been described in the paraneoplastic variant, but to our knowledge no case has been reported involving the autoimmune variant. We report a case report of a 50-year-old man with history of SPS who presented with recurrent episodes of severe limb and back spasms. He was hospitalized on two separate occasions for uncontrollable spasms associated with renal failure and creatinine phosphokinase elevations of 55,000 and 22,000 U/L respectively. Laboratory tests were otherwise unremarkable. The acute renal failure resolved during both admissions with supportive management. Rhabdomyolysis has the potential to be fatal and early diagnosis is essential. It should be considered in patients who have SPS and are experiencing an exacerbation of their neurologic condition. PMID:28028432

  5. Autoimmune hepatitis type 2 arising in PFAPA syndrome: coincidences or possible correlations?

    Science.gov (United States)

    Della Corte, Claudia; Ranucci, Giusy; Tufano, Maria; Alessio, Maria; Iorio, Raffaele

    2010-03-01

    PFAPA syndrome is a chronic disease classified in the group of autoinflammatory syndromes characterized by periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis in young children. The etiology of this disorder is still unknown, but a primary dysfunction of the innate immune system seems to be involved. According to Marshall criteria, it is not possible to diagnose PFAPA in the presence of autoimmune diseases. We present here the case report of an 8-month girl with PFAPA who developed autoimmune hepatitis type 2 at the age of 18 months. We suppose that the dysregulation in innate immunity that is typical of patients with PFAPA could trigger autoimmune disorders such as autoimmune hepatitis in susceptible subjects. The possible relationships between immune-system dysfunction peculiar to this syndrome and autoimmune hepatitis are discussed.

  6. IPEX syndrome: Case report

    OpenAIRE

    Radlović Nedeljko; Janić Dragana; Sajić Silvija; Janković Srđa; Ješić Maja; Leković Zoran; Petrović Rada

    2008-01-01

    INTRODUCTION IPEX syndrome, namely, a hereditary (X-linked) immunodysregulation with autoimmune polyendocrinopathy and enteropathy, as the basic manifestations, presents a rare and exceptionally severe disease. It develops due to gene mutation responsible for the synthesis of a specific protein (FOXP3), which, by differentiation and activation of regular T-lymphocytic CD4+CD25+, has the key role in the induction and maintenance of the peripheral tolerance of one's own tissue. CASE OUTLINE We ...

  7. Unusual pediatric co-morbility: autoimmune thyroiditis and cortico-resistant nephrotic syndrome in a 6-month-old Italian patient.

    Science.gov (United States)

    Urbano, Flavia; Acquafredda, Angelo; Aceto, Gabriella; Penza, Rosa; Cavallo, Luciano

    2012-10-23

    We report on a case of autoimmune thyroiditis in a 6-month-old patient with cortico-resistant nephrotic syndrome. Normal serum levels of thyroid hormons and thyroid-stimulating hormone were detected with high titers of circulant antithyroid antibodies and a dysomogeneous ultrasound appearance of the gland, typical of autoimmune thyroiditis. The research of maternal thyroid antibodies was negative. This is the first case of autoimmune thyroiditis found in such a young patient with pre-existing nephrotic syndrome ever described in literature. This association is random because nephrotic syndrome does not have an autoimmune pathogenesis and the genes involved in autoimmune thyroiditis are not related to those of nephrotic syndrome.

  8. Fulminant hepatic failure in autoimmune polyendocrine syndrome type-1.

    Science.gov (United States)

    Sinha, R; Chapman, A R; Reid, G T; Hayes, P C

    2015-01-01

    Fulminant hepatic failure is liver disease that causes encephalopathy within 8 weeks of onset of symptoms or within 2 weeks of onset of jaundice in a patient without prior evidence of liver disease. Autoimmune polyendocrine syndrome type-1 is an autoimmune autosomal-recessive condition causing parathyroid and adrenal insufficiency, alopecia, chronic mucocutaneous candidiasis, ectodermal dystrophy and, rarely, hepatitis. Although the liver can be affected as a consequence of the autoimmune process, the spectrum of disease activity is varied. Autoimmune hepatitis develops in 10-20% of patients and successful liver transplantation has been reported in pediatric patients who failed immunosuppressive treatment. We report fulminant hepatic failure in an adult patient with autoimmune polyendocrine syndrome type-1 who responded to medical treatment and did not require liver transplantation. We highlight the diagnostic scoring system for autoimmune hepatitis and the referral criteria for liver transplantation in fulminant hepatic failure.

  9. Overlap syndromes of autoimmune hepatitis: an open question.

    Science.gov (United States)

    Durazzo, Marilena; Premoli, Alberto; Paschetta, Elena; Belci, Paola; Spandre, Maurizio; Bo, Simona

    2013-02-01

    The headword "overlap syndromes" of liver diseases includes the coexistence of autoimmune hepatitis, primary biliary cirrhosis, and primary sclerosing cholangitis. These syndromes often represent a diagnostic and therapeutic challenge for hepatologists; it remains unclear whether these overlap syndromes form distinct entities or they are only variants of the major autoimmune liver diseases. The most frequent reported association occurs between autoimmune hepatitis and primary biliary cirrhosis, whereas the overlap between autoimmune hepatitis and primary sclerosing cholangitis is less frequent, typically at young age and often attendant with an inflammatory bowel disease. The choice therapy is based on ursodeoxycholic acid and immunosuppressive drugs, used at the same time or consecutively, according to the course of disease. The diagnostic scores for autoimmune hepatitis can help for diagnosis, even though their definitive soundness is lacking.

  10. Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS).

    Science.gov (United States)

    Li, Pu; Huang, Ping; Yang, Ye; Hao, Mu; Peng, Hongwei; Li, Fei

    2016-02-01

    Autoimmune lymphoproliferative syndrome (ALPS), a disorder characterized by immune dysregulation due to disrupted lymphocyte homeostasis, is mainly resulted from the mutations in FAS-mediated apoptotic pathway. In addition, other mutations of the genes such as Fas-ligand (FASLG), Caspase 10 (CASP10) and Caspase 8 (CASP8), NRAS and KRAS have also been observed in a small number of patients with ALPS or ALPS-related disorders. However, approximately 20-30% of patients with ALPS have unidentified defect. Its clinical manifestations observed in multiple family members include unexplained lymphadenopathy, hepatosplenomegaly, autoimmune cytopenias such as thrombocytopenia, neutropenia, and anemia due to excessive production of antibodies by lymphocytes, elevated number of double-negative T (DNT) cells, and increased risk of lymphoma. As a very rare disease, ALPS was first characterized in the early 1990s. More than 300 families with hereditary ALPS have been reported till now; nearly 500 patients from these families have been studied and followed worldwide over the last 20 years. ALPS has historically considered as a primary immune defect presenting in early childhood, however, recent studies have shown that it may be more common than previous thought because adult onset presentation is increasingly becoming recognized and more adult ALPS patients are diagnosed. The new genetic and biological insights have improved the understanding of ALPS and a number of targeted therapeutic strategies such as mycophenolate mofetil, sirolimus, and pentostatin have been successfully applied in ALPS patients with promising treatment efficacy. This article comprehensively reviews the clinical and laboratory manifestations, new research advances in the molecular pathogenesis, diagnosis and treatments of this disorder.

  11. [Auto-immune disorders as a possible cause of neuropsychiatric syndromes].

    Science.gov (United States)

    Martinez-Martinez, P; Molenaar, P C; Losen, M; Hoffmann, C; Stevens, J; de Witte, L D; van Amelsvoort, T; van Os, J; Rutten, B P F

    2015-01-01

    Changes that occur in the behaviour of voltage-gated ion channels and ligand-gated receptor channels due to gene mutations or auto-immune attack are the cause of channelopathies in the central and peripheral nervous system. Although the relation between molecular channel defects and clinical symptoms has been explained in the case of many neuromuscular channelopathies, the pathophysiology of auto-immunity in neuropsychiatric syndromes is still unclear. To review recent findings regarding neuronal auto-immune reactions in severe neuropsychiatric syndromes. Using PubMed, we consulted the literature published between 1990 and August 2014 relating to the occurrence of auto-immune antibodies in severe and persistent neuropsychiatric syndromes. Auto-antibodies have only limited access to the central nervous system, but if they do enter the system they can, in some cases, cause disease. We discuss recent findings regarding the occurrence of auto-antibodies against ligand-activated receptor channels and potassium channels in neuropsychiatric and neurological syndromes, including schizophrenia and limbic encephalitis. Although the occurrence of several auto-antibodies in schizophrenia has been confirmed, there is still no proof of a causal relationship in the syndrome. We still have no evidence of the prevalence of auto-immunity in neuropsychiatric syndromes. The discovery that an antibody against an ion channel is associated with some neuropsychiatric disorders may mean that in future it will be possible to treat patients by means of immunosuppression, which could lead to an improvement in a patient's cognitive abilities.

  12. Autoimmune Polyglandular Syndrome Type 3 with Anorexia

    Directory of Open Access Journals (Sweden)

    Toshio Kahara

    2012-01-01

    Full Text Available A 71-year-old man with diabetes mellitus visited our hospital with complaints of anorexia and weight loss (12 kg/3 months. He had megaloblastic anemia, cobalamin level was low, and autoantibody to intrinsic factor was positive. He was treated with intramuscular cyanocobalamin, and he was able to consume meals. GAD autoantibody and ICA were positive, and he was diagnosed with slowly progressive type 1 diabetes mellitus (SPIDDM. Thyroid autoantibodies were positive. According to these findings, he was diagnosed with autoimmune polyglandular syndrome type 3 with SPIDDM, pernicious anemia, and Hashimoto's thyroiditis. Extended periods of cobalamin deficiency can cause serious complications such as ataxia and dementia, and these complications may not be reversible if replacement therapy with cobalamin is delayed. Although type 1 diabetes mellitus with coexisting pernicious anemia is very rare in Japan, physicians should consider the possibility of pernicious anemia when patients with diabetes mellitus have cryptogenic anorexia with the finding of significant macrocytosis (MCV > 100 fL.

  13. Evans Syndrome: A case report

    Directory of Open Access Journals (Sweden)

    F. Porcaro

    2014-08-01

    Full Text Available We describe a case of a 14-years old caucasian female affected by autoimmune hemolytic anemia and thrombocytopenia successfully treated with intravenous immunoglobulin and steroids. Nevertheless, neutropenia occurred during follow-up period. Positivity of direct antiglobulin test and sieric anti-neutrophil antibodies suggested the diagnosis of Evans syndrome trilineage.

  14. Autoimmune Basis for Postural Tachycardia Syndrome

    Science.gov (United States)

    2016-10-14

    Postural Orthostatic Tachycardia Syndrome; Postural Tachycardia Syndrome; Tachycardia; Arrhythmias, Cardiac; Autonomic Nervous System Diseases; Orthostatic Intolerance; Cardiovascular Diseases; Primary Dysautonomias

  15. Severe autoimmune hemolytic anemia associated with IgM warm auto-antibodies in primary Sjögren's syndrome.

    Science.gov (United States)

    Shinoda, Koichiro; Taki, Hirofumi; Hounoki, Hiroyuki; Ogawa, Reina; Sugiyama, Eiji; Tobe, Kazuyuki

    2010-02-01

    Primary Sjögren's syndrome is an autoimmune disorder involving mainly salivary and lachrymal glands. However, many extraglandular symptoms have also been reported. Although leucocytopenia and lymphocytopenia are frequently observed in hematological disorders, autoimmune hemolytic anemia is rarely reported. We experienced a case of primary Sjögren's syndrome developing severe autoimmune hemolytic anemia. The patient's red blood cells showed spontaneous agglutination in saline at room temperature, and immunoglobulin M (IgM) was detected on the surface of red blood cells by flow cytometry, indicating that autoimmune hemolytic anemia was caused by warm reactive IgM antibodies. Immediate corticosteroid therapy resulted in a dramatic recovery. We report a first case of severe autoimmune hemolytic anemia caused by warm reactive IgM antibodies in primary Sjögren's syndrome.

  16. Photoletter to the editor: Dermatitis herpetiformis co-localised with vitiligo in a patient with autoimmune polyglandular syndrome.

    Science.gov (United States)

    Macbeth, Abby E; Lee, Kevin Y C; Levell, Nick J; Igali, Laszlo; Millington, George W M

    2013-01-01

    We report a case of dermatitis herpetiformis co-localised with segmental vitiligo in a 37-year-old woman with a background history of autoimmune polyglandular syndrome type 2. We propose genetic mosaicism as a possible mechanism. There has only been one previous case report in which dermatitis hepetiformis co-localised in close proximity but not exclusively within vilitigo in a patient with autoimmune thyroiditis. To our knowledge, this is the first case report of dermatitis herpetiformis co-localised exclusively to segmental vitiligo in the presence of autoimmune polyglandular syndrome.

  17. The autoimmune tautology with a focus on antiphospholipid syndrome.

    Science.gov (United States)

    Franco, J-S; Anaya, J-M

    2014-10-01

    Autoimmune diseases (ADs) are often diagnosed according to classification criteria; however, they share similar subphenotypes including signs and symptoms, non-specific autoantibodies and other immune changes, which are prone to taxonomic problems. Polyautoimmunity is defined as the presence of more than one AD in a single patient. The close relationship between antiphospholipid syndrome (APS) and systemic lupus erythematosus has been studied throughout the years. However, APS may coexist with several other ADs confirming polyautoimmunity in this systemic disease. Herein, we summarized the common characteristics shared between APS and others ADs in light of the autoimmune tautology (that is, common mechanisms of autoimmune diseases).

  18. A rare association of localized scleroderma type morphea, vitiligo, autoimmune hypothyroidism, pneumonitis, autoimmune thrombocytopenic purpura and central nervous system vasculitis. Case report

    Directory of Open Access Journals (Sweden)

    Bonilla-Abadía Fabio

    2012-12-01

    Full Text Available Abstract Background The localized scleroderma (LS known as morphea, presents a variety of clinical manifestations that can include systemic involvement. Current classification schemes divide morphea into categories based solely on cutaneous morphology, without reference to systemic disease or autoimmune phenomena. This classification is likely incomplete. Autoimmune phenomena such as vitiligo and Hashimoto thyroiditis associated with LS have been reported in some cases suggesting an autoimmune basis. To our knowledge this is the first case of a morphea forming part of a multiple autoimmune syndrome (MAS and presenting simultaneously with autoimmune thrombocytopenic purpura and central nervous system vasculitis. Case presentation We report an uncommon case of a white 53 year old female patient with LS as part of a multiple autoimmune syndrome associated with pneumonitis, autoimmune thrombocytopenic purpura and central nervous system vasculitis presenting a favorable response with thrombopoietin receptor agonists, pulses of methylprednisolone and cyclophosphamide. Conclusion Is likely that LS have an autoimmune origin and in this case becomes part of MAS, which consist on the presence of three or more well-defined autoimmune diseases in a single patient.

  19. Autoimmune Progesterone Dermatitis: A Case Report

    Directory of Open Access Journals (Sweden)

    Rachana George

    2012-01-01

    Full Text Available Background. Autoimmune progesterone dermatitis is a rare cyclic premenstrual allergic reaction to progesterone produced during the luteal phase of a woman's menstrual cycle. Patients present with a variety of conditions including erythema multiforme, eczema, urticaria, angioedema, and progesterone-induced anaphylaxis. Case. Thirty-eight-year-old woman G2P2002 presents with erythema multiforme and urticarial rash one week prior to her menses starting one year after menarche. She was treated with oral contraceptive pills and the symptoms resolved. Conclusion. This is a typical case of progesterone autoimmunity. The diagnosis is based on cyclic nature of the dermatitis. This differentiates the condition from other allergies or systemic diseases with skin manifestations. Inhibition of ovulation in such cases results in decrease in progesterone secretion and prevention of symptoms.

  20. Autoimmune hepatitis-primary biliary cirrhosis overlap syndrome concomitant with immune hemolytic anemia and immune thrombocytopenic purpura (Evans syndrome).

    Science.gov (United States)

    Korkmaz, Huseyin; Bugdaci, Mehmet Sait; Temel, Tuncer; Dagli, Mehmet; Karabagli, Pinar

    2013-04-01

    Autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC) associated with Evans syndrome; combination of autoimmune hemolytic anemia (AIHA) and immune thrombocytopenic purpura (ITP) has rarely been reported. We report the case of a 53-year-old patient who presented with weakness, myalgia, arthralgia, shortness of breath and purpura. Initial laboratory investigations revealed liver dysfunction, anemia and thrombocytopenia. Anti-nuclear (ANA) and antimitochondrial M2 (AMA M2) antibodies were positive. Diagnose of PBC-AIH overlap was made by clinical, serological and histological investigations. AIHA and ITP was identified with clinical-laboratory findings and bone marrow puncture. She was treated with IVIG followed by prednisolone and ursodeoxycholic acid. Hemoglobin-thrombocytes increased rapidly and transaminases improved at day 8. We have reported the first case in the literature with AIH-PBC overlap syndrome concurrent by ITP and AIHA which suggest the presence of shared genetic susceptibility factors in multiple autoimmune conditions including AIH, PBC, ITP and AIHA.

  1. [Oral diseases in auto-immune polyendocrine syndrome type 1].

    Science.gov (United States)

    Proust-Lemoine, Emmanuelle; Guyot, Sylvie

    2017-07-03

    Auto-immune polyendocrine syndrome type 1 (APS1) also called Auto-immune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) is a rare monogenic childhood-onset auto-immune disease. This autosomal recessive disorder is caused by mutations in the auto-immune regulator (AIRE) gene, and leads to autoimmunity targeting peripheral tissues. There is a wide variability in clinical phenotypes in patients with APSI, with auto-immune endocrine and non-endocrine disorders, and chronic mucocutaneous candidiasis. These patients suffer from oral diseases such as dental enamel hypoplasia and candidiasis. Both are frequently described, and in recent series, enamel hypoplasia and candidiasis are even the most frequent components of APS1 together with hypoparathyroidism. Both often occur during childhood (before 5 years old for canrdidiasis, and before 15 years old for enamel hypoplasia). Oral candidiasis is recurrent all life long, could become resistant to azole antifungal after years of treatment, and be carcinogenic, leading to severe oral squamous cell carcinoma. Oral components of APS1 should be diagnosed and rigorously treated. Dental enamel hypoplasia and/or recurrent oral candidiasis in association with auto-immune diseases in a young child should prompt APS1 diagnosis. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  2. AUTOIMMUNE HEMOLYTIC ANAEMIA IN CHILDHOOD: CASE REPORT

    Directory of Open Access Journals (Sweden)

    Preeti

    2015-06-01

    Full Text Available The hemolytic anemia brought about by autoimmune antibodies against red cells resulting in shortening of red cell survival. And excessive erythropoiesis as a compensatory response of the marrow is autoimmune hemolytic anemia. There are two types due to wa rm antibodies and cold antibodies. Warm antibodies mediated anemia has hemolysis in spleen mediated by IgG antibody. Macrophage Fc receptor can detect IgG coated red cells in absence of C 3b. It acts in the range of 37 - 42deg c. (1 Cold antibody mediated anemia is mediated by IgM antibody, they bind avidly at 4 deg c. carry hemolysis at low temp. Liver is the major site of hemolysis. Autoimmune hemolytic anemia presents as sudden onset of pallor, jaundice, dark coloured urine, and he pato splenomegaly. In 5 cases cold antibodies were positive, 3 cases warm were positive too. 4 of the 5 cases were females and steroids were effective in management of cold auto immune hemolytic anemia.

  3. Autoimmune Polyglandular Syndrome Type 2: An Unusual Presentation

    Directory of Open Access Journals (Sweden)

    Hamdollah Karamifar

    2010-05-01

    Full Text Available "nAutoimmune polyglandular syndrome (APS type 2 is characterized by the presence of Addison's disease, in association with autoimmune thyroid disease and/or type 1 diabetes mellitus. APS type 2 occurs most often in middle aged females and is rare in children. Here an 11 year old boy is reported with Addison's disease who developed symptom's of diabetes mellitus, goiter, malabsorption, macrocytic anemia and keratitis. APS type 2 occurs most often in middle aged females and is quite rare in children but one should think to autoimmune poly glandular syndrome type II in patient at any age especially in patients with Addison's disease.

  4. Increased prevalence of autoimmunity in Turner syndrome

    DEFF Research Database (Denmark)

    Mortensen, K H; Cleemann, L; Hjerrild, B E;

    2009-01-01

    and karyotype. In conclusion, TS girls and women face a high prevalence of autoimmunity and associated disease with a preponderance towards hypothyroidism and CD. Thus, health care providers dealing with this patient group should be observant and test liberally for these conditions even before clinical symptoms...

  5. Is Tourette's syndrome an autoimmune disease?

    NARCIS (Netherlands)

    Hoekstra, PJ; Kallenberg, CGM; Korf, J; Minderaa, RB

    2002-01-01

    We provide a review of recent research findings which support the involvement of autoimmunity in childhood-onset tic disorders, in particular the presence of antineuronal autoantibodies, D8/17 B lymphocyte overexpression, a marker of chorea associated with streptococcal infection, and possible benef

  6. Direct acting antiviral therapy is curative for chronic hepatitis C/autoimmune hepatitis overlap syndrome

    Institute of Scientific and Technical Information of China (English)

    Farhad; Sahebjam; Cristina; H; Hajdu; Esther; Nortey; Samuel; H; Sigal

    2016-01-01

    Autoimmune phenomena are common in patients with chronic hepatitis C. Management of chronic hepatitis C/autoimmune hepatitis syndrome has until recently been problematic due to the adverse effects of interferon on autoimmune processes and immunosuppression on viral replication. In this report we describe 3 patients with chronic hepatitis C/autoimmune hepatitis overlap syndrome who responded rapidly to direct acting antiviral therapy. The resolution of the autoimmune process supports a direct viral role in its pathophysiology.

  7. Overlapping humoral autoimmunity links rheumatic fever and the antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Blank, M; Krause, I; Magrini, L

    2006-01-01

    Rheumatic fever (RF) and the antiphospholipid syndrome (APS) are autoimmune diseases that share similar cardiac and neurological pathologies. We assessed the presence of shared epitopes between M protein, N-acetyl-beta-D-glucosamine (GlcNAc) and beta2 glycoprotein-I (beta2GPI), the pathogenic...

  8. le syndrome auto-immun thyrogastrique: ses effets sur les micronutriments et la tumorigénèse gastrique.

    OpenAIRE

    2013-01-01

    Summary : The thyrogastric autoimmune syndrome (TAS) was described in patients in whom the serum cross-reacted both with gastric parietal cells antigens and thyroid antigens. We report two cases illustrating the spectrum of pathogical features of TAS. The first case associates Hashimoto’s thyroiditis and anemia perniciosa,and develops a gastric neuroendocrine tumor during follow up. The second case presents with a Graves’ disease and an autoimmune reversible gastritis, se...

  9. Intestinal lymphangiectasia in a patient with autoimmune polyglandular syndrome type III.

    Science.gov (United States)

    Choudhury, Bipul Kumar; Saiki, Uma Kaimal; Sarm, Dipti; Choudhury, Bikash Narayan; Choudhury, Sarojini Dutta; Saharia, Dhiren; Saikia, Mihir

    2011-11-01

    Autoimmune polyglandular syndromes (APS) comprise a wide clinical spectrum of autoimmune disorders. APS is divided into Type I, Type II, Type I and Type IV depending upon the pattern of disease combination. Ghronic diarrhoea is one of the many manifestations of APS and many aetiological factors have been suggested for it. Apart from the established aetiological factors, intestinal lymphangiectasia may be responsible for chronic diarrhea in some cases.Intestinal lymphangiectasia has been reported in Type I APS. We report a case of Type III APS with hypocalcaemia and hypothyroidism who had chronic diarrhea of long duration and was finally diagnosed to have intestinal lymphangiectasia.

  10. Stiff person syndrome: a case report.

    Science.gov (United States)

    Kelly, Patricia A; Kuberski, Carolyn

    2014-08-01

    The case report features a patient who had a diagnosis of a common type of breast cancer with an uncommon neurologic syndrome. She had extreme pain and progressive stiffness with cognitive and functional decline. This article includes the pathogenesis and treatment options for a rare, but treatable, autoimmune disorder of malignancy called stiff person syndrome.

  11. Primary autoimmune myelofibrosis: a report of three cases and review of the literature

    Directory of Open Access Journals (Sweden)

    Rakhee Kar

    2009-09-01

    Full Text Available Myelofibrosis in association with autoimmune disorders has been consistently recognized in sporadic case reports over a number of years. Autoimmune myelofibrosis has been described most commonly in association with systemic lupus erythematosus (SLE. In addition, myelofibrosis presenting as cytopenias and showing clinical response to immunosuppressant drugs, notably steroids, has been reported with a wide range of immune-mediated disorders, including Sjögren’s syndrome, polyarteritis nodosa, rheumatoid arthritis, ulcerative colitis, and primary biliary cirrhosis. Attempts have been made to define a syndrome of primary autoimmune myelofibrosis (PAIMF, as a distinct steroid-responsive clinicopathologic entity with excellent prognosis. Herein, we describe three cases of autoimmune myelofibrosis with a review of the literature.

  12. Paraneoplastic autoimmune multiorgan syndrome (paraneoplastic pemphigus with unusual manifestations and without detectable autoantibodies

    Directory of Open Access Journals (Sweden)

    Jimena Sanz-Bueno

    2014-01-01

    Full Text Available We describe a patient with paraneoplastic autoimmune multiorgan syndrome (PAMS secondary to a lymphoblastic T- cell lymphoma who presented with a lichenoid dermatitis and vitiligo, later developing bronchiolitis obliterans and autoimmune hepatitis. Notably, he had no detectable autoantibodies. The development of vitiligo and autoimmune hepatic involvement probably indicate a role for cytotoxic T- cell lymphocytes in the pathogenesis of this syndrome.

  13. Optimal Management of Autoimmune Lymphoproliferative Syndrome in Children.

    Science.gov (United States)

    George, Lindsey A; Teachey, David T

    2016-08-01

    Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of abnormal lymphocyte homeostasis, resulting from mutations in the Fas apoptotic pathway. Clinical manifestations include noninfectious and nonmalignant lymphadenopathy, splenomegaly, and autoimmune pathology-most commonly, autoimmune cytopenias. Rarely, and in association with specific genetic mutations, patients with ALPS may go on to develop secondary lymphoid malignancies. Though ALPS is a rare disorder, it should be suspected and ruled out in children presenting with chronic and refractory multilineage cytopenias associated with nonmalignant lymphoproliferation. Revised diagnostic criteria and insights into disease biology have improved both diagnosis and treatment. Sirolimus and mycophenolate mofetil are the best-studied and most effective corticosteroid-sparing therapies for ALPS, and they should be considered first-line therapy for patients who need chronic treatment. This review highlights practical clinical considerations for diagnosis and management of ALPS.

  14. Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2).

    Science.gov (United States)

    Yang, Jianying; Chandrasekharappa, Settara C; Vilboux, Thierry; Smith, Ann C M; Peterson, Erik J

    2014-08-01

    Smith-Magenis syndrome (SMS) is a sporadic congenital disorder involving multiple organ systems caused by chromosome 17p11.2 deletions. Smith-Magenis syndrome features craniofacial and skeletal anomalies, cognitive impairment, and neurobehavioral abnormalities. In addition, some SMS patients may exhibit hypogammaglobulinemia. We report the first case of SMS-associated autoimmunity in a woman who presented with adult onset of multiple autoimmune disorders, including systemic lupus erythematosus, antiphospholipid antibody syndrome, and autoimmune hepatitis. Molecular analysis using single-nucleotide polymorphism array confirmed a de novo 3.8-Mb deletion (breakpoints, chr17: 16,660,721-20,417,975), resulting in haploinsufficiency for TACI (transmembrane activator and CAML interactor). Our data are consistent with potential loss of function for the BAFF (B cell-activating factor) receptor TACI as a contributing factor to human autoimmune phenomena.

  15. Neuromyelitis optica accompanied by nephrotic syndrome and autoimmune-related pancytopenia.

    Science.gov (United States)

    ZhangBao, Jingzi; Zhou, Lei; Lu, Jiahong; Xi, Jianying; Zhao, Chongbo; Quan, Chao

    2016-05-01

    Neuromyelitis optica (NMO) associated with nephrotic syndrome and autoimmune-related pancytopenia has not been reported previously. We report herein a young woman who initially presented with bilateral blurring of vision and numbness in her hands. MRI disclosed multiple white matter lesions and a long cervical spinal cord lesion extending to the medulla oblongata. Serum aquaporin-4 antibody was positive and the patient was diagnosed with NMO. While in the hospital, she presented with hypoproteinemia and heavy proteinuria, meeting the diagnostic criteria of nephrotic syndrome. After high-dose methylprednisolone treatment, her vision improved significantly and urine protein quantity decreased. However, the patient subsequently developed severe pancytopenia with a positive Coombs' test. Thrombocytopenia finally led to uncontrollable gastrointestinal bleeding as the direct cause of the patient's death. This case illustrates the extremely rare condition of concurrence of NMO, nephrotic syndrome, and autoimmune pancytopenia in one patient, which suggests the involvement of organs beyond the central nervous system in NMO spectrum disorders.

  16. Autoimmunity in Wiskott-Aldrich Syndrome: an unsolved enigma

    Directory of Open Access Journals (Sweden)

    Marco eCatucci

    2012-07-01

    Full Text Available Wiskott-Aldrich Syndrome (WAS is a severe X-linked Primary Immunodeficiency (PID that affects 1 to 10 out of 1 million male individuals. WAS is caused by mutations in the WAS Protein (WASP expressing gene that leads to the absent or reduced expression of the protein. WASP is a cytoplasmic protein that regulates the formation of actin filaments in hematopoietic cells. WASP deficiency causes many immune cell defects both in humans and in the WAS murine model, the Was-/- mouse. Both cellular and humoral immune defects in WAS patients contribute to the onset of severe clinical manifestations, in particular microthrombocytopenia, eczema, recurrent infections and a high susceptibility to develop autoimmunity and malignancies. Autoimmune diseases affect from 22% to 72% of WAS patients and the most common manifestation is autoimmune hemolytic anemia, followed by vasculitis, arthritis, neutropenia, inflammatory bowel disease and IgA nephropathy. Many groups have widely explored immune cell functionality in WAS partially explaining how cellular defects may lead to pathology. However, the mechanisms underlying the occurrence of autoimmune manifestations have not been clearly described yet. In the present review, we report the most recent progresses in the study of immune cell function in WAS that have started to unveil the mechanisms contributing to autoimmune complications in WAS patients.

  17. Association of severe myoclonic epilepsy of infancy (SMEI with probable autoimmune lymphoproliferative syndrome-variant

    Directory of Open Access Journals (Sweden)

    A. Berio

    2014-12-01

    Full Text Available The paper reported on a case of severe myoclonic epilepsy of infancy (SMEI associated with a probable autoimmune lymphoproliferative syndrome variant (Dianzani autoimmune lymphoproliferative disease (DALD. A male patient with typical features of SMEI and a SCN1A gene variant presented in the first year of life with multiple lymph nodes, palpable liver at 2 cm from the costal margin, neutropenia, dysgammaglobulinemia, relative and sometimes absolute lymphocytosis. Subsequently the patient presented with constantly raised IgA in serum and positive antinuclear and thyroid antimicrosomal antibodies. The diagnosis of probable autoimmune lymphoproliferative syndrome was made; arthritis, skin and throat blisters, which appeared subsequently led to the diagnosis of linear IgA disease. On the basis of these unique associations, the Authors hypothesized that autoimmunity may be partly responsible of the severe epileptic symptomatology, perhaps mediated by autoantibodies against sodium channels or by accompanying cytotoxic T-lymphocytes. Corticosteroid treatment ameliorated the epilepsy and laboratory tests. Future studies will be necessary to evaluate the relevance of autoimmunity in SMEI.

  18. Familial Aggregation and Segregation Analysis in Families Presenting Autoimmunity, Polyautoimmunity, and Multiple Autoimmune Syndrome.

    Science.gov (United States)

    Castiblanco, John; Sarmiento-Monroy, Juan Camilo; Mantilla, Ruben Dario; Rojas-Villarraga, Adriana; Anaya, Juan-Manuel

    2015-01-01

    Studies documenting increased risk of developing autoimmune diseases (ADs) have shown that these conditions share several immunogenetic mechanisms (i.e., the autoimmune tautology). This report explored familial aggregation and segregation of AD, polyautoimmunity, and multiple autoimmune syndrome (MAS) in 210 families. Familial aggregation was examined for first-degree relatives. Segregation analysis was implemented as in S.A.G.E. release 6.3. Data showed differences between late- and early-onset families regarding their age, age of onset, and sex. Familial aggregation of AD in late- and early-onset families was observed. For polyautoimmunity as a trait, only aggregation was observed between sibling pairs in late-onset families. No aggregation was observed for MAS. Segregation analyses for AD suggested major gene(s) with no clear discernible classical known Mendelian transmission in late-onset families, while for polyautoimmunity and MAS no model was implied. Data suggest that polyautoimmunity and MAS are not independent traits and that gender, age, and age of onset are interrelated factors influencing autoimmunity.

  19. Familial Aggregation and Segregation Analysis in Families Presenting Autoimmunity, Polyautoimmunity, and Multiple Autoimmune Syndrome

    Directory of Open Access Journals (Sweden)

    John Castiblanco

    2015-01-01

    Full Text Available Studies documenting increased risk of developing autoimmune diseases (ADs have shown that these conditions share several immunogenetic mechanisms (i.e., the autoimmune tautology. This report explored familial aggregation and segregation of AD, polyautoimmunity, and multiple autoimmune syndrome (MAS in 210 families. Familial aggregation was examined for first-degree relatives. Segregation analysis was implemented as in S.A.G.E. release 6.3. Data showed differences between late- and early-onset families regarding their age, age of onset, and sex. Familial aggregation of AD in late- and early-onset families was observed. For polyautoimmunity as a trait, only aggregation was observed between sibling pairs in late-onset families. No aggregation was observed for MAS. Segregation analyses for AD suggested major gene(s with no clear discernible classical known Mendelian transmission in late-onset families, while for polyautoimmunity and MAS no model was implied. Data suggest that polyautoimmunity and MAS are not independent traits and that gender, age, and age of onset are interrelated factors influencing autoimmunity.

  20. Familial Aggregation and Segregation Analysis in Families Presenting Autoimmunity, Polyautoimmunity, and Multiple Autoimmune Syndrome

    Science.gov (United States)

    Castiblanco, John; Sarmiento-Monroy, Juan Camilo; Mantilla, Ruben Dario; Rojas-Villarraga, Adriana; Anaya, Juan-Manuel

    2015-01-01

    Studies documenting increased risk of developing autoimmune diseases (ADs) have shown that these conditions share several immunogenetic mechanisms (i.e., the autoimmune tautology). This report explored familial aggregation and segregation of AD, polyautoimmunity, and multiple autoimmune syndrome (MAS) in 210 families. Familial aggregation was examined for first-degree relatives. Segregation analysis was implemented as in S.A.G.E. release 6.3. Data showed differences between late- and early-onset families regarding their age, age of onset, and sex. Familial aggregation of AD in late- and early-onset families was observed. For polyautoimmunity as a trait, only aggregation was observed between sibling pairs in late-onset families. No aggregation was observed for MAS. Segregation analyses for AD suggested major gene(s) with no clear discernible classical known Mendelian transmission in late-onset families, while for polyautoimmunity and MAS no model was implied. Data suggest that polyautoimmunity and MAS are not independent traits and that gender, age, and age of onset are interrelated factors influencing autoimmunity. PMID:26697508

  1. Detection of candidal antigens in autoimmune polyglandular syndrome type I.

    OpenAIRE

    Peterson, P; Perheentupa, J; Krohn, K J

    1996-01-01

    Autoimmune polyglandular syndrome type I (APS I) is associated with chronic mucocutaneous candidiasis. To characterize the antibody responses in this subgroup of Candida albicans infections, we screened a candidal cDNA expression library with patient sera and found four cDNA clones encoding the immunopositive proteins enolase, heat shock protein 90, pyruvate kinase, and alcohol dehydrogenase. The reactivity to these antigens was studied further by immunoprecipitation assays with in vitro-tran...

  2. Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation

    Science.gov (United States)

    Xie, Yi; Pittaluga, Stefania; Price, Susan; Raffeld, Mark; Hahn, Jamie; Jaffe, Elaine S.; Rao, V. Koneti; Maric, Irina

    2017-01-01

    Autoimmune lymphoproliferative syndrome is a rare genetic disorder characterized by defective FAS-mediated apoptosis, autoimmune disease, accumulation of mature T-cell receptor alpha/beta positive, CD4 and CD8 double-negative T cells and increased risk of lymphoma. Despite frequent hematologic abnormalities, literature is scarce regarding the bone marrow pathology in autoimmune lymphoproliferative syndrome. We retrospectively reviewed 3l bone marrow biopsies from a cohort of 240 patients with germline FAS mutations. All biopsies were performed for the evaluation of cytopenias or to rule out lymphoma. Clinical information was collected and morphological, immunohistochemical, flow cytometric and molecular studies were performed. Bone marrow lymphocytosis was the predominant feature, present in 74% (23/31) of biopsies. The lymphoid cells showed several different patterns of infiltration, most often forming aggregates comprising T cells in 15 cases, B cells in one and a mixture of T and B cells in the other seven cases. Double-negative T cells were detected by immunohistochemistry in the minority of cases (10/31; 32%); significantly, all but one of these cases had prominent double-negative T-lymphoid aggregates, which in four cases diffusely replaced the marrow space. One case showed features of Rosai-Dorfman disease, containing scattered S-100+ cells with emperipolesis and double-negative T cells. No clonal B or T cells were detected by polymerase chain reaction in any evaluated cases. Classical Hodgkin lymphoma was identified in three cases. Our results demonstrate that infiltrates of T cells, or rarely B cells, can be extensive in patients with autoimmune lymphoproliferative syndrome, mimicking lymphoma. A multi-modality approach, integrating clinical, histological, immunohistochemical as well as other ancillary tests, can help avoid this diagnostic pitfall. This study is registered at Clinicaltrials.gov ID # NCT00001350 PMID:27846610

  3. Deep vein thrombosis, an unreported first manifestation of polyglandular autoimmune syndrome type III

    Science.gov (United States)

    Hogan, P; Oliver, T

    2016-01-01

    Summary A 71-year-old woman with severe right lower leg pain, edema and erythema was presented to the Emergency Department and was found to have an extensive deep vein thrombosis (DVT) confirmed by ultrasound. She underwent an extensive evaluation due to her prior history of malignancy and new hypercoagulable state, but no evidence of recurrent disease was detected. Further investigation revealed pernicious anemia (PA), confirmed by the presence of a macrocytic anemia (MCV=115.8fL/red cell, Hgb=9.0g/dL), decreased serum B12 levels (56pg/mL), with resultant increased methylmalonic acid (5303nmol/L) and hyperhomocysteinemia (131μmol/L), the presumed etiology of the DVT. The patient also suffered from autoimmune thyroid disease (AITD), and both antithyroglobulin and anti-intrinsic factor antibodies were detected. She responded briskly to anticoagulation with heparin and coumadin and treatment of PA with intramuscular vitamin B12 injections. Our case suggests that a DVT secondary to hyperhomocystenemia may represent the first sign of polyglandular autoimmune syndrome III-B (PAS III-B), defined as the coexistent autoimmune conditions AITD and PA. It is important to recognize this clinical entity, as patients may not only require acute treatment with vitamin B12 supplementation and prolonged anticoagulation, as in this patient, but may also harbor other autoimmune diseases. Learning points A DVT can be the first physical manifestation of a polyglandular autoimmune syndrome. Hyperhomocysteinemia secondary to pernicious anemia should be considered as an etiology of an unprovoked DVT in a euthyroid patient with autoimmune thyroid disease. Patients with DVT secondary to hyperhomocysteinemia should undergo screening for the presence of co-existent autoimmune diseases in addition to treatment with B12 supplementation and anticoagulation to prevent recurrent thromboembolism. PMID:27482386

  4. Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus in Kearns-Sayre syndrome

    Directory of Open Access Journals (Sweden)

    A. Berio

    2013-06-01

    Full Text Available Kearns-Sayre syndrome is characterized by onset before 20 years, chronic progressive external opthalmoplegia, pigmentary retinal degeneration, and ataxia (and/or hearth block, and/or high protein content in the cerebrospinal fluid in the presence of mtDNA rearrangements. Multiple endocrine dysfunction associated with this syndrome was rarely reported. In this paper, the Authors report on a female patient with Kearns-Sayre syndrome with large heteroplasmic mtDNA deletion, absence of cytochrome c oxidase in many muscle fibers, partial GH deficiency, hypothyroidism and subsequently insulin dependent diabetes mellitus (IDDM. Anti-thyroid peroxidase and antithyreoglobulin antibodies were present in high titer in serum while anti-islet cell antibodies were absent. The patient developed thyroiditis with Hashimoto encephalopathy. The presence of GH deficiency, autoimmune thyroiditis with hypothyroidism and IDDM distinguishes this case from others and confirms the association of Kearns-Sayre syndrome with multiple endocrine dysfunction. Hashimoto encephalopathy and anti-thyroideal antibodies suggest that in this patient, predisposed by a genetic factor (a mitochondrial deletion anti-thyroideal antibodies may have contributed to the hypothyroidism and, by interfering with cerebral mitochondrial function, may have caused the encephalopathy. GH deficiency and IDDM can be attributed to oxidative phosphorylation deficiency but the autoimmunity may also have played a role in the production of glandular insufficiencies. It seems important to search for endocrine autoimmunity in every case of KSS.

  5. Unusual pediatric co-morbility: autoimmune thyroiditis and cortico-resistant nephrotic syndrome in a 6-month-old Italian patient

    Directory of Open Access Journals (Sweden)

    Urbano Flavia

    2012-10-01

    Full Text Available Abstract We report on a case of autoimmune thyroiditis in a 6-month-old patient with cortico-resistant nephrotic syndrome. Normal serum levels of thyroid hormons and thyroid-stimulating hormone were detected with high titers of circulant antithyroid antibodies and a dysomogeneous ultrasound appearance of the gland, typical of autoimmune thyroiditis. The research of maternal thyroid antibodies was negative. This is the first case of autoimmune thyroiditis found in such a young patient with pre-existing nephrotic syndrome ever described in literature. This association is random because nephrotic syndrome does not have an autoimmune pathogenesis and the genes involved in autoimmune thyroiditis are not related to those of nephrotic syndrome.

  6. Clinical features of the overlap syndrome of autoimmune hepatitis and primary biliary cirrhosis: retrospective study

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    @@ PBC-AIH overlap syndrome is an autoimmune liver disease between AIH (autoimmune hepatitis) and PBC (primary biliary cirrhosis). To investigate the characteristic of the PBC-AIH overlap syndrome, we have conducted a retros- pective study of 12 diagnosed overlap syndrome patients and compared them with typical PBC and AIH on the basis of clinical, biochemical, serological and histopathological findings.

  7. Ross syndrome with ANA positivity: A clue to possible autoimmune origin and treatment with intravenous immunoglobulin

    Directory of Open Access Journals (Sweden)

    Vasudevan Biju

    2010-01-01

    Full Text Available A 28-year-old serving soldier presented with patchy areas of absence of sweating and blurring of vision. On examination he was found to have segmental anhidrosis, right sided tonic pupil and absent ankle jerks. Investigations revealed ANA positivity with no other abnormalities. He was treated with Intravenous immunoglobulin. This case of Ross syndrome is reported for its rarity as well as a clue to its probable autoimmune origin and treatment option with intravenous immunoglobulins.

  8. The Thyro-Gastric syndrome: from thyroid autoimmunity to neuroendocrine gastric tumors

    OpenAIRE

    2011-01-01

    THE THYRO-GASTRIC SYNDROME: FROM THYROID AUTOIMMUNITY TO NEUROENDOCRINE GASTRIC TUMORS. In 1849, Prof Addison described a fatal case of anemia, or anemia perniciosa. Dr Biermer expanded this original description in 1872. Nowadays, this pathological condition associating a megaloglastic anemia associated with a metabolic polyneuropathy is recognized as Biermer disease. Biermer anemia or anemia perniciosa and its associated polyneuropathy are the consequence of vitamine B12 malabsorpti...

  9. Autoimmune Polyendocrine Syndrome 3 Onset with Severe Ketoacidosis in a 74-Year-Old Woman

    Directory of Open Access Journals (Sweden)

    Stefano Benedini

    2015-01-01

    Full Text Available Type 1 diabetes mellitus (T1D, autoimmune thyroid disease, and autoimmune gastritis often occur together forming the so-called autoimmune polyendocrine syndrome type 3 (APS3. We here report a clinical case of a 74-year-old woman who presented for the first time with severe hyperglycemia and ketoacidosis diagnosed as T1D. Further clinical investigations revealed concomitant severe hypothyroidism with autoimmune thyroid disease and severe cobalamin deficiency due to chronic atrophic gastritis. The diagnosis of type 1 diabetes mellitus was confirmed by the detection of autoantibodies against glutamic acid decarboxylase 65, islet cell antibodies, and anti-insulin autoantibodies. Anti-thyroperoxidase, anti-thyroglobulin, and anti-gastric parietal cell antibodies were also clearly positive. The case emphasized that new onset diabetic ketoacidosis, hypothyroidism, and cobalamin deficiency may simultaneously occur, and one disease can mask the features of the other, thereby making diagnosis difficult. It is noteworthy that an APS3 acute episode occurred in an asymptomatic elder woman for any autoimmune diseases.

  10. 自身免疫性多内分泌腺病综合征4型一例报道并文献复习%Autoimmune Polyendocrine Syndrome Type 4:A Case Report and Literature Review

    Institute of Scientific and Technical Information of China (English)

    李新杰; 周玉森; 张允

    2015-01-01

    自身免疫性多内分泌腺病综合征( APS)是指以2个或2个以上的内分泌腺体因自身免疫功能缺陷而发生功能受损为主要表现的一系列综合征,亦可累及非内分泌腺器官。本文报道了1例APS-4型患者先后出现脱毛症、溃疡性结肠炎、1型糖尿病、促肾上腺皮质激素( ACTH)缺乏型腺垂体功能减退。APS-4型是一种少见的综合征,常伴有多种内分泌腺功能减退,要注意补充一种激素的同时可能影响另一种疾病的治疗。%Autoimmune polyendocrine syndrome(APS)refers to the dysfunction of two or more endocrine glandsdue to the deficiency of autoimmune function,also involving non-endocrine organs. The paper reported a case of APS-4 patient who had alopecia,ulcerative colitis,type 1 diabetes mellitus and ACTH-deficient hypopituitarism successively. APS-4 type is a rare syndrome concurrent with multiple kinds of hypopituitarism. Attention should be given that the supplement of one hormone may affect the treatment of another disease.

  11. Analysis of 71 cases of insulin autoimmune syndrome%近15年文献报告的胰岛素自身免疫综合征71例荟萃分析

    Institute of Scientific and Technical Information of China (English)

    徐太军

    2016-01-01

    目的::了解胰岛素自身免疫综合征的临床特点,提高诊治水平。方法:以“胰岛素自身免疫综合征”为关键词,通过中国知网对近15年文献报告的IAS病例71例,进行回顾性分析,统计其病史、临床表现、胰岛素水平、治疗及预后等。结果:71例IAS中有甲状腺功能亢进症病史40例,发病前服用甲巯咪唑有31例;低血糖发作有明显规律的43例,其中有30例在夜间或凌晨发作;有35例出现意识障碍,该类患者的发作时血糖水平较低,胰岛素水平较高;36例予激素治疗,26例仅停服诱发药物,激素治疗的IAA转阴时间较短;缓解的有69例,1例因自动出院预后不详,1例因合并胸膜间皮瘤死亡。结论:IAS是引起严重自发性低血糖的重要病因之一,临床较为少见,常合并自身免疫性疾病及服用羟基药物诱发,出现意识障碍的患者应及时激素治疗,正确治疗一般预后良好。%Objective:To know the clinical features of insulin autoimmune syndrome to improve diagnostic level. Methods:Focused on " insulin autoimmune syndrome ( IAS )", to make retrospective analysis by summarizing medical history, clinical manifestations,insulin levels,treatment and prognosis of 71 IAS cases recently fifteen years reported in the literature on CNKI. Results:Among the 71 IAS cases,there were 40 cases with a history of hyperthyroidism,31 cases taking methimazole before onset and 43 cases with hypoglycemic episodes with clear regularity, of which 30 cases hypoglycemic episodes occurred during the night or on early morning. 35 cases had disorders of consciousness and such patients had lower blood glucose level and higher insulin level; 36 cases received hormone therapy with shorter time for IAA turning negative,and 26 cases only stopped taking the causative drug;69 cases have a remission,1 case prognosis was unknown due to auto-discharge,and 1 case dies of combined pleural endotheliomas. Conclusion:IAS is one

  12. A novel thymoma-associated autoimmune disease: Anti-PIT-1 antibody syndrome

    Science.gov (United States)

    Bando, Hironori; Iguchi, Genzo; Okimura, Yasuhiko; Odake, Yukiko; Yoshida, Kenichi; Matsumoto, Ryusaku; Suda, Kentaro; Nishizawa, Hitoshi; Fukuoka, Hidenori; Mokubo, Atsuko; Tojo, Katsuyoshi; Maniwa, Yoshimasa; Ogawa, Wataru; Takahashi, Yutaka

    2017-01-01

    Anti-PIT-1 antibody syndrome has recently been reported and characterized by acquired growth hormone (GH), prolactin (PRL), and thyroid-stimulating hormone (TSH) deficiencies associated with autoimmunity to a pituitary specific transcription factor PIT-1, which plays an essential role in GH-, PRL-, and TSH-producing cells. Although circulating anti-PIT-1 antibody and PIT-1-reactive cytotoxic T cells (CTLs) were detected in the patients, the pathophysiology and precise mechanisms for the autoimmunity remain unclarified. During the follow up, thymoma was diagnosed in all 3 cases with anti-PIT-1 antibody syndrome. Immunohistochemical analysis revealed that PIT-1 was strongly expressed in neoplastic cortical thymic epithelial cells. Importantly, after thymectomy, the titer of anti-PIT-1 antibody decreased and reactivity of CTLs toward PIT-1 diminished. These data strongly suggest that the aberrant expression of PIT-1 in the thymoma plays a causal role in the development of this syndrome. Thus, we define that this syndrome is a novel thymoma-associated autoimmune disease. PMID:28216655

  13. Primary Biliary Cirrhosis and Type II Autoimmune Polyglandular Syndrome

    Directory of Open Access Journals (Sweden)

    Mark Ram Borgaonkar

    1999-01-01

    Full Text Available A 45-year-old female was diagnosed with Hashimoto’s thyroiditis in 1976 and Addison’s disease in 1979. At that time, her antimitochondrial antibody (AMA level was elevated at 1:32. She subsequently developed premature ovarian failure and type I diabetes mellitus. In 1996, she became jaundiced with a cholestatic enzyme pattern. AMA was positive at a titre of 1:256. A liver biopsy confirmed the diagnosis of primary biliary cirrhosis (PBC. She underwent a liver transplantation in January 1998. This is the first report of PBC in association with type II autoimmune polyglandular syndrome. The association of PBC with other organ-specific autoimmune diseases supports an immune-mediated pathogenesis and may have implications in further studies of PBC.

  14. AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS)

    DEFF Research Database (Denmark)

    Bøe Wolff, A S; Oftedal, B; Johansson, S

    2008-01-01

    Autoimmune Addison's disease (AAD) is often associated with other components in autoimmune polyendocrine syndromes (APS). Whereas APS I is caused by mutations in the AIRE gene, the susceptibility genes for AAD and APS II are unclear. In the present study, we investigated whether polymorphisms...... or copy number variations in the AIRE gene were associated with AAD and APS II. First, nine SNPs in the AIRE gene were analyzed in 311 patients with AAD and APS II and 521 healthy controls, identifying no associated risk. Second, in a subgroup of 25 of these patients, AIRE sequencing revealed three novel...... polymorphisms. Finally, the AIRE copy number was determined by duplex quantitative PCR in 14 patients with APS I, 161 patients with AAD and APS II and in 39 healthy subjects. In two Scandinavian APS I patients previously reported to be homozygous for common AIRE mutations, we identified large deletions...

  15. Autoimmune polyglandular syndrome type 2 manifested as Hashimoto's thyroiditis and adrenocortical insufficiency, in Turner syndrome woman, with onset following introduction of treatment with recombinant human growth hormone.

    Science.gov (United States)

    Cyniak-Magierska, Anna; Lasoń, Agnieszka; Smyczyńska, Joanna; Lewiński, Andrzej

    2015-01-01

    Autoimmune polyglandular syndrome is a constellation of signs and symptoms of simultaneous insufficiencies of several endocrine glands. Autoimmune polyglandular syndrome type 2 (APS 2) may be diagnosed when the adrenocortical insufficiency is associated with an autoimmune thyroid disease (Hashimoto's thyroiditis or Graves' disease), and/or insulin-dependent diabetes mellitus. Turner syndrome is the most common chromosomal disorder in females, caused by complete or partial X chromosome monosomy. We present the case of a 20-year-old woman with Turner syndrome, in whom APS 2 (Hashimoto's thyroiditis and adrenocortical insufficiency) has been diagnosed after introduction of recombinant human growth hormone (rhGH) therapy. In Turner syndrome, examination of the patient must regularly be conducted in order to diagnose a possible onset of autoimmune diseases; respective treatment must be applied as soon as the diagnosis is established. In particular, therapy of rhGH, used for short stature treatment, may be a trigger factor of adrenal insufficiency. The cortisol level in blood should be assessed before rhGH administration and carefully monitored during the therapy, especially in case of autoimmune thyroid disease coexistence.

  16. Autoimmune Lymphoproliferative Syndrome (ALPS) in a Boy with Massive Lymphadenopathy.

    Science.gov (United States)

    Kianifar, Hamid Reza; Khalesi, Maryam; Farid, Reza; Badiee, Zahra; Rastin, Maryam; Ahanchian, Hamid

    2010-09-01

    Autoimmune lymphoproliferative syndrome (ALPS) is an uncommon nonmalignant lymphoproliferative disease which is characterized by chronic, persistent or recurrent lymphadenopathy, splenomegaly, hepatomegaly, immune cytopenia , hypergammaglobinemia and increased risk of lymphoma. We report a 2-year old boy with hepatosplenomegaly as first presentation. Petechial and purpuric rashes with massive cervical lymphadenopathies developed 10 months later.In laboratory tests anemia, thrombocytopenia and hypergammaglobinemia were observed. According to flocytometry increased double negative T cells and by apoptosis assay decrease apoptosis of lymphocytes accompanied clinical manifestations, thus diagnosis of ALPS was established. In conclusion; in all patients with massive lymphadenopathy and hepatosplenomegay; especially with cytopenia; ALPS should be considered.

  17. Obesity with and without metabolic syndrome: do vitamin D and thyroid autoimmunity have a role?

    Science.gov (United States)

    Agbaht, Kemal; Mercan, Yeliz; Kutlu, Serap; Alpdemir, Mehmet Fatih; Sezgin, Tezcan

    2014-10-01

    To investigate serum levels of thyroid stimulating hormone (TSH), anti-thyroid peroxidase antibody (TPO), and 25(OH)D in the presence or absence of metabolic syndrome in an obese population. Data from a prospectively generated "Obesity Polyclinic" database that includes socio-demographic characteristics, anthropometric, and laboratory measurements of obese subjects were retrospectively analyzed. Subjects with body-mass index (BMI) ≥30kg/m(2) were eligible. After detailed analysis and exclusion of unavailable cases, subjects diagnosed with and without metabolic syndrome were compared for TSH, anti-TPO, and 25(OH)D. Of the study participants (n=548; men/women, 64/484), 277 were diagnosed with metabolic syndrome [Met-S (+)]. Met-S (+) patients had a higher mean BMI (36.4 vs. 32.3kg/m(2), pobesity in obese subjects, serum 25(OH)D levels per se did not seem to be associated with metabolic syndrome. The prevalence of thyroid autoimmunity and hypothyroidism were high in this obese sample; however, neither serum TSH nor anti-TPO levels correlated with metabolic syndrome. Our findings did not support the hypothesis that thyroid autoimmunity and/or vitamin D status have a role in the development of metabolic disturbances in the obese population. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  18. Autoimmune lymphoproliferative syndrome in a patient with a new minimal deletion in the death domain of the FAS gene

    NARCIS (Netherlands)

    Gualco, Gabrieta; van den Berg, Anke; Koopmans, Sicco; Bacchi, Livia M.; Carneiro, Siderley S.; Ruiz, Everaldo; Vecchi, Ana Paula; Chan, John K. C.

    2008-01-01

    We present a case of autoimmune lymphoproliferative syndrome (ALPS) caused by a previously undescribed minimal deletion in the death domain of the FAS gene. ALPS is an uncommon disease associated with an impaired Fas-mediated apoptosis. The patient presented with a history of splenomegaly since 4 mo

  19. IPEX syndrome: Case report

    Directory of Open Access Journals (Sweden)

    Radlović Nedeljko

    2008-01-01

    Full Text Available INTRODUCTION IPEX syndrome, namely, a hereditary (X-linked immunodysregulation with autoimmune polyendocrinopathy and enteropathy, as the basic manifestations, presents a rare and exceptionally severe disease. It develops due to gene mutation responsible for the synthesis of a specific protein (FOXP3, which, by differentiation and activation of regular T-lymphocytic CD4+CD25+, has the key role in the induction and maintenance of the peripheral tolerance of one's own tissue. CASE OUTLINE We present a male infant with classic clinical features of IPEX syndrome, which manifested by the end of the first month after birth, first with type 1 diabetes mellitus and chronic diarrhoea followed by dehydration and disordered development, and then with facial eczema and laboratory signs of thyroiditis without thyroid dysfunction (antithyreoglobulin antibodies 1:5500, antimicrosomal antibodies 1:40. In addition, plasma IgE level was high (517 IU/l, while antibodies to tissue transglutaminase were mildly increased (IgA 7.5 U/ml, and anti-smooth muscle and anti-DNA antibodies were absent. Based on the typical clinical features, as well as the laboratory findings, IPEX syndrome was diagnosed, which was further confirmed by proved IVS7+5G>A mutations in the FOXP3 gene. Therapy with insulin and Pronison, combined with parenteral and semielementary nutrition resulted in the patient's clinical improvement. At the age of 9 months, despite Pronison and hypoallergenic nutrition, the child had a relapse of severe and persistent diarrhoeal disorder followed by dehydration, weight loss and deterioration of general condition. Beside the complete parenteral nutrition, as well as other measures, azathioprine was introduced into the treatment, but without the desired effect. At the age of 12.5 months, due to bacteraemia and disseminated intravascular coagulation as complications, the patient ended lethally. CONCLUSION IPEX syndrome should be kept in mind in all the cases of

  20. Rare cases of autoimmune hypothyroidism in young children.

    Science.gov (United States)

    Tronconi, Giulia Maria; Caiulo, Silvana; Di Frenna, Marianna; Vigone, Maria Cristina; Chiumello, Giuseppe; Weber, Giovanna

    2013-01-01

    Acquired autoimmune hypothyroidism is common in late childhood and adolescence but is very rare in the first 3 years of life. We report on three cases of autoimmune thyroiditis (AT) in young children who presented with constipation, decreased appetite, and increased hours of sleep. Our cases highlight that AT may remain undiagnosed for a long time in young children owing to the rarity of the disease.

  1. Primary biliary cirrhosis and Sjogren's syndrome: Autoimmune epithelitis

    Science.gov (United States)

    Selmi, Carlo; Meroni, Pier Luigi; Gershwin, M. Eric

    2013-01-01

    Primary biliary cirrhosis (PBC) has been often coined a model autoimmune disease based on the homogeneity amongst patients, the frequency and similarity of antimitochondrial antibodies, including the highly directed immune response to pyruvate dehydrogenase (PDC-E2). A significant number of patients with PBC suffer from sicca and amongst these, there are patients who also have classic Sjogren's syndrome. Indeed, both PBC and Sjogren's syndrome are characterized by inflammation of target epithelial elements. Both diseases can be considered on the basis of a number of other related clinical aspects, including proposed unique apoptotic features of the target tissue, the role of secretory IgA, and the frequency with which both diseases overlap with each other. Indeed, PBC may be considered a Sjogren's syndrome of the liver, whereas Sjogren's syndrome can be equally discussed as PBC of the salivary glands. Dissection of the genetic predispositions for both diseases and especially the molecular basis of effector mechanisms, will become critical elements in developing new therapies. PMID:22178199

  2. A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.

    Science.gov (United States)

    Zhu, Wufei; Hu, Zhen; Liao, Xiangyu; Chen, Xing; Huang, Wenrong; Zhong, Yu; Zeng, Zhaoyang

    2017-05-24

    Autoimmune polyendocrine syndrome type 1 (APS-1, OMIM 2403000) is a rare autosomal recessive disease that is caused by autoimmune regulator (AIRE). The main symptoms of APS-1 are chronic mucocutaneous candidiasis, autoimmune adrenocortical insufficiency (Addison's disease) and hypoparathyroidism. We collected APS-1 cases and analysed them. The AIRE genes of the patient and his family members were sequenced to identify whether the APS-1 patient had an AIRE mutation. We discovered a mutation site (c.206A>C) that had never before been reported in the AIRE gene located in exon 2 of the AIRE gene. This homogyzous mutation caused a substitution of the 69th amino acid of the AIRE protein from glutamine to proline (p.Q69P). A yeast two-hybrid assay, which was used to analyse the homodimerization properties of the mutant AIRE protein, showed that the mutant AIRE protein could not interact with the normal AIRE protein. Flow cytometry and RT-qPCR analyses indicated that the new mutation site could decrease the expression levels of the AIRE, glutamic acid decarboxylase 65 (GAD65) and tryptophan hydroxylase-1 (TPH1) proteins to affect central immune tolerance. In conclusion, our research has shown that the new mutation site (c.206A>C) may influence the homodimerization and expression levels and other aspects of the AIRE protein. It may also impact the expression levels of tissue-restricted antigens (TRAs), leading to a series of autoimmune diseases.

  3. Deep vein thrombosis, an unreported first manifestation of polyglandular autoimmune syndrome type III

    Directory of Open Access Journals (Sweden)

    M Horsey

    2016-07-01

    Full Text Available A 71-year-old woman with severe right lower leg pain, edema and erythema was presented to the Emergency Department and was found to have an extensive deep vein thrombosis (DVT confirmed by ultrasound. She underwent an extensive evaluation due to her prior history of malignancy and new hypercoagulable state, but no evidence of recurrent disease was detected. Further investigation revealed pernicious anemia (PA, confirmed by the presence of a macrocytic anemia (MCV=115.8fL/red cell, Hgb=9.0g/dL, decreased serum B12 levels (56pg/mL, with resultant increased methylmalonic acid (5303nmol/L and hyperhomocysteinemia (131μmol/L, the presumed etiology of the DVT. The patient also suffered from autoimmune thyroid disease (AITD, and both antithyroglobulin and anti-intrinsic factor antibodies were detected. She responded briskly to anticoagulation with heparin and coumadin and treatment of PA with intramuscular vitamin B12 injections. Our case suggests that a DVT secondary to hyperhomocystenemia may represent the first sign of polyglandular autoimmune syndrome III-B (PAS III-B, defined as the coexistent autoimmune conditions AITD and PA. It is important to recognize this clinical entity, as patients may not only require acute treatment with vitamin B12 supplementation and prolonged anticoagulation, as in this patient, but may also harbor other autoimmune diseases.

  4. Immunogenetic background of patients with autoimmune fatigue syndrome.

    Science.gov (United States)

    Itoh, Y; Igarashi, T; Tatsuma, N; Imai, T; Yoshida, J; Tsuchiya, M; Murakami, M; Fukunaga, Y

    2000-10-01

    We have previously reported that approximately 50% of children with chronic nonspecific complaints were positive for antinuclear antibodies (ANA), and that a novel autoantibody to a 62 kD protein (anti-Sa) was found in 40% of these ANA-positive patients. Therefore, we proposed a distinct disease entity termed autoimmune fatigue syndrome (AIFS). We hypothesized that if autoimmune mechanisms did play an important role in the pathogenesis of AIFS, it is possible that it is immunogenetically regulated as observed in other autoimmune disorders. In order to examine the immunogenetic background of AIFS patients, HLA-A, -B, -C, and -DR loci were analyzed serologically in 61 AIFS patients. AIFS was found to be positively associated with the class I antigen HLA-B61 and with the class II antigen HLA-DR9, with odds ratios of 2.77 (p = 0.015, Pcorr = 0.48) and 2.60 (p= 0.012, Pcorr = 0.17), respectively. A negative association was also found between AIFS and HLA-DR2 with odds ratio of 0.25 (p = 0.029, Pcorr = 0.041). When comparing anti-Sa positive AIFS patients with healthy controls, the odds ratios associated with HLA-B61, DR9, and DR2 were 3.42 (p = 0.021, Pcorr = 0.22), 3.96 (p = 0.0011, Pcorr = 0.015), and 0.16 (p = 0.0022, Porr = 0.031), respectively. Thus, the HLA associations observed in this study suggested that immunogenetic background might play a role in AIFS.

  5. Uveitis in autoimmune hepatitis: A case report

    Institute of Scientific and Technical Information of China (English)

    Roberto Giulio Romanelli; Giorgio La Villa; Fabio Almerigogna; Francesco Vizzutti; Elena Di Pietro; Valentina Fedi; Paolo Gentilini; Giacomo Laffi

    2006-01-01

    In this case report we describe for the first time an association between autoimmune hepatitis (AIH)and uveitis, without any doubts about other possible etiologies, such as HCV, since all the old reports describe the association of AIH with iridocyclitis before tests for HCV-related hepatitis could be available. A 38-year-old businessman with abnormal liver function tests and hyperemia of the bulbar conjunctiva was admitted to the hospital. Six years before admission,the patient presented with persistent fever, arthralgias,conjunctival hyperemia, leukocytosis and increased ESR, referred to acute rheumatic fever. The presence of systemic diseases, most commonly associated with uveitis, was investigated without results and the patient was then treated with topical corticosteroids. His symptoms resolved. A test for anti-nuclear antibodies was positive, at a titre of 1:320, with a speckled and nucleolar staining pattern. Liver ultrasound showed mild hepatomegaly with an increased echostructure of the liver. Percutaneous liver biopsy was performed under ultrasound assistance. Histological examination showed necroinflammation over the portal, periportal and lobular areas, fibrotic portal tracts, with periportal fibrosis and occasional portal-to-portal bridgings, but intact hepatic architecture. Some hepatocytes showed barely discernible granules of hemosiderin in the lobular area. Bile ductules had not any significant morphological alterations. METAVIR score was A2-F3, according to the modified HAI grading/fibrosis staging. The patient was diagnosed to have AIH with mild activity and fibrosis and was discharged on 25 mg prednisone, entering clinical and biochemical remission, further confirming diagnosis. After discharge the patient continued to have treatment with corticosteroids as an outpatient at a dose of 5 mg. On January 2002 the patient was readmitted to the hospital. A test for anti-nuclear antibodies was positive, at a titre of 1:320, with a speckled and

  6. Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation.

    Science.gov (United States)

    Tripodi, Serena Ilaria; Mazza, Cinzia; Moratto, Daniele; Ramenghi, Ugo; Caorsi, Roberta; Gattorno, Marco; Badolato, Raffaele

    2016-09-01

    Herein we describe the case of a 8-years-old boy with diagnosis of atypical autoimmune lymphoproliferative syndrome (ALPS), carrying heterozygous mutation of CASP10 gene (I406L). He presented with multiple non-invasive infections of the skin, that were associated to chronic non-malignant non-infectious lymphadenopathy, failure to thrive, weakness, arthralgia, relapsing oral aftosis, and expansion of TCRαβ(+) CD4(-)/CD8(-) T cells. This observation suggests that cutaneous infections can be observed in ALPS patients carrying CASP10 mutations.

  7. Autoimmunity and Klinefelter’s syndrome: when men have two X chromosomes

    OpenAIRE

    2009-01-01

    Similar to other autoimmune diseases, systemic lupus erythematosus (SLE) predominately affects women. Recent reports demonstrate excess Klinefelter’s among men with SLE and a possible under-representation of Turner’s syndrome among women with SLE as well as a case report of a 46,XX boy with SLE. These data suggest that risk of SLE is related to a gene dose effect for the X chromosome. Such an effect could be mediated by abnormal inactivation of genes on the X chromosome as has been demonstrat...

  8. Autoimmune lymphoproliferative syndrome:a case report and literature review%自身免疫性淋巴细胞增生综合征1例并文献复习

    Institute of Scientific and Technical Information of China (English)

    孙佳鹏; 卢新天; 赵卫红; 华瑛

    2015-01-01

    SUMMARY We described 1 case of autoimmune lymphoproliferative syndrome ( ALPS) , first diagnosed in our hospital, and reviewed the recent literature. The 11-month old male patient presented with a histo-ry of splenomegaly and hepatomegaly since 1 month after birth. He suffered recurrent infectious diseases including cytomegalovirus infection, parvovirus B19 infection and chronic diarrhea disease. Besides, his symptoms included hemolytic anemia and thrombocytopenia. The laboratory abnormality indicated an ex-panded population of alpha/beta double-negative T cells (DNTs) (27. 18% of lymphocytes, 35. 16% of CD3 + T lymphocytes) in peripheral blood, and autoantibodies including antinuclear antibody, double-stranded DNA and rheumatic factor were positive. Hyper gamma globulinemia and positive direct Coombs tests were seen in the patient. His parents were both healthy and denied autoimmune diseases. We iden-tified a heterozygous point mutation in exon 3 of the FAS gene carrying c. 309 A>C, resulting in a single base pair substitution in exon 3 of FAS gene which changed the codon of Arg103 to Ser103 . Unfortunate-ly, we were unable to obtain the gene results of the child' s parents. The patient was treated with glu-cocorticoids in our hospital and with mycophenolatemofetil in other hospital. And we were informed that his anemia condition relieved through the telephone follow-up, but he still suffered recurrent infections, hepatomegaly and splenomegaly still existed. As we all know ALPS is characterized by defective lympho-cyte apoptosis, and thus cause lymphoproliferative disease and autoimmune disease, and increase the risk of lymphoma. It is more likely to be misdiagnosed as other diseases. ALPS should be suspected in the case of chronic lymphadenopathy, splenomegaly and autoimmune features. Flow cytometry approach is helpful for the diagnosis. Immunosuppressive drugs are the necessary treatment.%报道2013年10月北京大学第一医院诊治的1例自身免疫

  9. Sirolimus for Autoimmune Disease of Blood Cells

    Science.gov (United States)

    2017-03-16

    Autoimmune Pancytopenia; Autoimmune Lymphoproliferative Syndrome (ALPS); Evans Syndrome; Idiopathic Thrombocytopenic Purpura; Anemia, Hemolytic, Autoimmune; Autoimmune Neutropenia; Lupus Erythematosus, Systemic; Inflammatory Bowel Disease; Rheumatoid Arthritis

  10. Evidence Refuting the Existence of Autoimmune/Autoinflammatory Syndrome Induced by Adjuvants (ASIA)

    DEFF Research Database (Denmark)

    Ameratunga, Rohan; Gillis, David; Gold, Michael

    2017-01-01

    Autoimmune/autoinflammatory syndrome induced by adjuvants (ASIA) was described in 2011. Over time the condition and its triggers have broadened to include several autoimmune disorders, the macrophagic myofasciitis syndrome, the Gulf war syndrome, the sick building syndrome, siliconosis......, and the chronic fatigue syndrome. The aluminum-containing adjuvants in the hepatitis B vaccine and the human papillomavirus vaccine in particular have been stated to be the major causes of the disorder. Here, we review the specificity of the diagnostic criteria for ASIA. We also examine relevant human data...

  11. A strange case of Evans syndrome

    Directory of Open Access Journals (Sweden)

    Manuel Monti

    2013-12-01

    Full Text Available Evans syndrome is a rare autoimmune disease presenting hemolytic anemia, thrombocytopenia and/or neutropenia. It may be associated with other autoimmune or lymphoproliferative diseases. It can have an extremely serious disease course and, in rare cases, this can even be life-threatening. First-line treatment consists of steroids and/or immunoglobulin. Further therapy with rituximab, vincristine, cyclophosphamide and other immunosuppressive drugs can be considered in unresponsive patients. We report a case of Evans syndrome in a 54-year old woman admitted to the Emergency Department (ED for asthenia. Etiopathogenic, clinical, therapeutic and evolutive aspects are discussed. In contrast to many cases described in the literature, our patient had a satisfactory response to corticoids. We also discuss how to make a specific diagnosis, even in a suburban ED with limited resources, in order to admit patients to the appropriate hospital department and allow the correct therapy to be started as early as possible.

  12. Autoimmune reaction after anti-tetanus vaccination-description of four cases and review of the literature.

    Science.gov (United States)

    Ruhrman-Shahar, N; Torres-Ruiz, J; Rotman-Pikielny, P; Levy, Y

    2017-02-01

    Autoimmune reaction after vaccination is sporadically reported in the medical literature. Vaccinations are generally safe and have an important role in eradicating endemic diseases worldwide. Nevertheless, the question arises as to whether there is a possibility of post-vaccination autoimmune phenomena. The anti-tetanus vaccine is being used since 1924, and it is part of the recommended immunization schedules for children. There are few reports of autoimmune diseases, such as rheumatoid arthritis and anti-phospholipid syndrome after anti-tetanus vaccination. Herein, we describe four cases, of which we believe, show a clear temporal relation between anti-tetanus vaccination and the appearance of dermatomyositis, systemic lupus erythematosus, type 1 diabetes mellitus and anti-phospholipid syndrome. We also suggest some of the pathogenic mechanisms that promote a pathogenic autoimmune response.

  13. Pregnancy Induced Autoimmune Warm Antibodies Hemolytic Anemia: A Case Report.

    Science.gov (United States)

    Laužikienė, D; Ramašauskaitė, D; Lūža, T; Lenkutienė, R

    2015-11-01

    Background: Autoimmune haemolytic anaemia (AIHA), caused primarily by pregnancy, is poorly described in the literature. There is especially little information on coping with cases that are not responsive to glucocorticoid treatment, monitoring a fetal condition, and identifying fetal haemolytic anaemia as early as possible. Case: A case of pregnancy-induced autoimmune haemolytic anaemia is reported with major problems in differential diagnosis, treatment and the risks posed to both the mother and the fetus. The anaemia went into spontaneous remission of the disease several weeks after delivery. Conclusion: Autoimmune haemolytic anaemia is rarely reported in literature, but can be dangerous for both fetus and mother. It therefore should be described and discussed among obstetricians and gynaecologists, and the etiopathogenesis should be further studied.

  14. [Drug-induced exacerbation of hypoaldosteronism in autoimmune polyglandular syndrome type 2].

    Science.gov (United States)

    Krysiak, Robert; Okopień, Bogusław

    2012-01-01

    Hypoaldosteronism is a clinical condition resulting from inadequate stimulation of aIdosterone secretion (hyporeninemic hypoaIdosteronism), defects in adrenal synthesis of aldosterone (hyperreninemic hypoaldosteronism), or resistance to the peripheral action of this hormone (pseudohypoaldosteronism). The disease is characterized by a wide spectrum of clinical manifestations, ranging from asymptomatic hyperkalemia to life-threatening volume depletion, and, if unrecognized and untreated, it increases morbidity and mortality rates. In this paper, we report a case of a woman diagnosed with autoimmune polyglandular syndrome type 2. As a consequence of adrenal cortex destruction, the patient developed subclinical hypoaldosteronism which was effectively treated with small doses of fludrocortisone. Two and fours years later, she required ibuprofen and atenolol treatment and each of these treatments was accompanied by a transient deterioration in mineralocorticoid activity which resolved after drug withdrawal. This case shows for the first time that drugs reducing plasma renin activity may unmask subclinical hypoaldosteronism in subjects with autoimmune polyglandular syndromes, and that they should be avoided in patients with even small disturbances in the hormonal function of the zona glomerulosa.

  15. Multiple Sclerosis and autoimmune diseases: clinical cases and review of the literature

    Directory of Open Access Journals (Sweden)

    A. Protti

    2011-09-01

    Full Text Available Multiple sclerosis (MS, the most frequent demyelinating disease in adults, is thought to be an autoimmune disease. Symptoms and signs observed in MS reflect lesions present mainly in the white matter of the central nervous system (CNS. The diagnosis remains difficult, at least concerning presenting symptoms, because of their low specificity. Diagnosis criteria are usually based on dissemination of signs in time and space, evoked potentials, findings of magnetic resonance imaging, results of cerebrospinal fluid examination, and the exclusion of other diagnosis possibly explaining the clinical signs. However, no clinical and paraclinical investigation can distinguish with certainity MS from other conditions such as autoimmune or inflammatory diseases predominantly affecting the central nervous system. These other disorders include systemic lupus erythematosus, antiphospholipid syndrome, Behcet disease, Sjogren syndrome, sarcoidosis and vasculitides. We present four clinical cases showing the difficulty in reaching a proper diagnosis...

  16. An overlap syndrome involving autoimmune hepatitis and systemic lupus erythematosus in childhood

    Institute of Scientific and Technical Information of China (English)

    Yusuf Usta; Figen Gurakan; Zuhal Akcoren; Seza Ozen

    2007-01-01

    We report a 12 years old female patient with an overlap syndrome involving autoimmune hepatitis (ALM) and systemic lupus erythematosus (SLE). The patient presented with jaundice, hepatosplenomegaly, malAlse, polyarthralgia, arthritis and butterfly rash on the face. Laboratory tests revealed severe liver dysfunction, Coombs positive hemolytic anemia and a positive ANA/ anti-dsDNA test. Renal biopsy showed class IIA kidney disease, while liver biopsy showed chronic hepatitis with severe inflammatory activity. The patient satisfied the international criteria for both SLE and ALM. Clinical symptoms and laboratory findings of SLE improved with high dose treatment with corticosteroids and azathioprine, however, remission of the liver disease could not be achieved. Repeat biopsy of the liver after three years of therapy revealed ongoing chronic hepatitis with high level of inflammatory activity. The present case indicates that children with liver dysfunction and SLE should be investigated for ALM. There is much diagnostic and therapeutic dilemma in patients with ALH-SLE overlap syndrome.

  17. Autoimmune hepatitis in a teenage boy: 'overlap' or 'outlier' syndrome--dilemma for internists.

    Science.gov (United States)

    Talukdar, Arunansu; Khanra, Dibbendhu; Mukherjee, Kabita; Saha, Manjari

    2013-02-08

    An 18-year-old boy presented with upper gastrointestinal bleeding and jaundice. Investigations revealed coarse hepatomegaly, splenomegaly and advanced oesophageal varices. Blood reports showed marked rise of alkaline phosphatase and more than twofold rise of transaminases and IgG. Liver histology was suggestive of piecemeal necrosis, interphase hepatitis and bile duct proliferation. Antinuclear antibody was positive in high titre along with positive antismooth muscle antibody and antimitochondrial antibody. The patient was positive for human leukocyte antigen DR3 type. Although an 'overlap' syndrome exists between autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC), a cholestatic variant of AIH, a rare 'outlier' syndrome could not be excluded in our case. Moreover, 'the chicken or the egg', AIH or PBC, the dilemma for the internists continued. The patient was put on steroid and ursodeoxycholic acid with unsatisfactory response. The existing international criteria for diagnosis of AIH are not generous enough to accommodate its variant forms.

  18. Autoimmune cholangitis mimicking a klatskin tumor: a case report

    Directory of Open Access Journals (Sweden)

    Zwirewich Charles

    2011-09-01

    Full Text Available Abstract Introduction Autoimmune cholangitis remains an elusive manifestation of immunoglobulin G4-associated systemic disease most commonly encountered in patients with autoimmune pancreatitis. No strict diagnostic criteria have been described to date and diagnosis mainly relies on a combination of clinical and histopathologic findings. It is hence even more challenging to diagnose autoimmune cholangitis in patients with late or atypical presentations, such as without concomitant pancreatic involvement. Early diagnosis of this rare disorder can significantly improve outcomes considering high rates of surgical intervention, as well as high relapse rates in the absence of steroid treatment. To the best of our knowledge the literature is quite sparse on cases with atypical presentations of autoimmune cholangitis. Case presentation We report a case of a previously healthy 65-year-old man of Middle-Eastern origin, with a history of pancreatic insufficiency of unknown etiology, evaluated for elevated liver function tests found incidentally on a routine physical examination. Imaging studies revealed an atrophic pancreas and biliary duct dilatation consistent with obstruction. Subsequent endoscopic retrograde cholangiopancreatography showed a bile duct narrowing pattern suggestive of cholangiocarcinoma, but brushings failed to reveal malignant cells. Our patient proceeded to undergo surgical resection. Histological examination of the resected mass revealed lymphoplasmacytic infiltrate with no malignant features. Our patient returned three months later with persistently high liver function tests and no evidence of biliary obstruction on imaging. A presumptive diagnosis of autoimmune cholangitis was made and our patient's symptoms resolved after a short course of an oral steroid regimen. Post factum staining of the resection specimen revealed an immunoglobulin G4 antibody positive immune cell infiltrate, consistent with the proposed diagnosis. Conclusion

  19. Autoimmune hepatitis.

    Science.gov (United States)

    Heneghan, Michael A; Yeoman, Andrew D; Verma, Sumita; Smith, Alastair D; Longhi, Maria Serena

    2013-10-26

    Autoimmune hepatitis is a disease of the hepatic parenchyma that can present in acute or chronic forms. In common with many autoimmune diseases, autoimmune hepatitis is associated with non-organ-specific antibodies in the context of hepatic autoimmunity. This dichotomy has made definition of a unifying hypothesis in the pathophysiology of the disease difficult, although data from the past 8 years have drawn attention to the role of regulatory T cells. Several triggers have been identified, and the disease arises in genetically susceptible individuals. Clinical and biochemical remission is achievable in up to 85% of cases. For the remaining patients, alternative immunosuppression strategies are an option. Liver transplantation provides an excellent outcome for patients with acute liver failure or complications of end-stage liver disease, including hepatocellular carcinoma. Variant or overlapping syndromes are worthy of consideration when unexpected disease features arise.

  20. Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS).

    Science.gov (United States)

    Teachey, David T; Manno, Catherine S; Axsom, Kelly M; Andrews, Timothy; Choi, John K; Greenbaum, Barbara H; McMann, Joseph M; Sullivan, Kathleen E; Travis, Susan F; Grupp, Stephan A

    2005-03-15

    Autoimmune lymphoproliferative syndrome (ALPS) is a rare disorder of disrupted lymphocyte homeostasis. Clinical manifestations of ALPS vary but typically include autoimmune cytopenias, organomegaly, lymphadenopathy, and increased risk of malignancies. A similar spectrum of symptoms may be seen in some patients with Evans syndrome (ES), a hematologic disorder defined by autoimmune destruction of at least 2 hematologic cell types. We hypothesized that a subset of patients diagnosed with ES may have ALPS. We screened 12 children with ES by flow cytometric analysis for CD4-/CD8- (double negative) T cells (DNTs) and with the definitive test for ALPS, defective in vitro Fas-mediated apoptosis. Six of the patients had elevated DNTs, suggestive of ALPS and also had defective Fas-mediated apoptosis. The other 6 patients displayed normal T-cell apoptosis; 5 of whom had normal DNTs, and 1 had a borderline result. Thus, 7 (58%) of 12 patients with ES had elevated DNTs suggestive of ALPS, with functional confirmation in 6 of 7. This suggests that analysis of DNTs may be a sensitive first-line screening test, serving as a marker of patients who should undergo definitive testing for ALPS. Our data further suggest that a number of patients with ES may have ALPS, a novel finding with important therapeutic implications.

  1. Polycystic Ovary Syndrome May Be an Autoimmune Disorder

    Directory of Open Access Journals (Sweden)

    Hifsa Mobeen

    2016-01-01

    Full Text Available Polycystic ovarian syndrome (PCOS is the most prevalent endocrine disorder affecting females. It is a common cause of menstrual irregularities and infertility during reproductive age. Genetic and hormonal factors play crucial role in the pathogenesis of PCOS. Low level of progesterone in PCOS causes overstimulation of immune system that produces more estrogen which leads to various autoantibodies. Different autoantibodies have been documented in PCOS, for example, anti-nuclear (ANA, anti-thyroid, anti-spermatic, anti-SM, anti-histone, anti-carbonic anhydrase, anti-ovarian, and anti-islet cell antibodies. There is an association between PCOS and autoimmune diseases such as ANA and anti-TPO that have been documented in systemic lupus erythematosus and Hashimoto thyroiditis, respectively, and it is suspected that there are autoantibodies that might affect the long term clinical management of these patients. Therefore fluctuating levels of autoantibodies in different PCOS patients give us the way to open new chapter for future research on molecular level. This may lead to discovery of better treatment options for PCOS in near future.

  2. Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS).

    Science.gov (United States)

    Teachey, David T; Obzut, Dana A; Axsom, Kelly; Choi, John K; Goldsmith, Kelly C; Hall, Junior; Hulitt, Jessica; Manno, Catherine S; Maris, John M; Rhodin, Nicholas; Sullivan, Kathleen E; Brown, Valerie I; Grupp, Stephan A

    2006-09-15

    Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of abnormal lymphocyte survival caused by defective Fas-mediated apoptosis, leading to lymphadenopathy, hepatosplenomegaly, and an increased number of double-negative T cells (DNTs). Treatment options for patients with ALPS are limited. Rapamycin has been shown to induce apoptosis in normal and malignant lymphocytes. Since ALPS is caused by defective lymphocyte apoptosis, we hypothesized that rapamycin would be effective in treating ALPS. We tested this hypothesis using rapamycin in murine models of ALPS. We followed treatment response with serial assessment of DNTs by flow cytometry in blood and lymphoid tissue, by serial monitoring of lymph node and spleen size with ultrasonography, and by enzyme-linked immunosorbent assay (ELISA) for anti-double-stranded DNA (dsDNA) antibodies. Three-dimensional ultrasound measurements in the mice correlated to actual tissue measurements at death (r = .9648). We found a dramatic and statistically significant decrease in DNTs, lymphadenopathy, splenomegaly, and autoantibodies after only 4 weeks when comparing rapamycin-treated mice with controls. Rapamycin induced apoptosis through the intrinsic mitochondrial pathway. We compared rapamycin to mycophenolate mofetil, a second-line agent used to treat ALPS, and found rapamycin's control of lymphoproliferation was superior. We conclude that rapamycin is an effective treatment for murine ALPS and should be explored as treatment for affected humans.

  3. AIRE genetic variants and predisposition to polygenic autoimmune disease: The case of Graves' disease and a systematic literature review.

    Science.gov (United States)

    Colobran, Roger; Giménez-Barcons, Mireia; Marín-Sánchez, Ana; Porta-Pardo, Eduard; Pujol-Borrell, Ricardo

    2016-08-01

    Autoimmune Regulator (AIRE) is a transcriptional regulator that is crucial for establishing central tolerance as illustrated by the Mendelian Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) syndrome associated with AIRE-inactivating recessive or dominant mutations. Polymorphisms in AIRE have been proposed to be implicated in genetic susceptibility to non-Mendelian organ specific autoimmune diseases. Because there is evidence that in predisposition to Graves' disease (GD) central tolerance is crucial, we investigated whether AIRE polymorphisms could modulate risk of GD. A case-control association study using 29 variants and conducted in 150 GD patients and 200 controls did not detect any significant association. This result is not exceptional: a systematic review of the literature, including GWAS, on the association of AIRE variants with organ specific autoimmune diseases did not show clear associations; similarly heterozygous recessive mutations are not associated to non-Mendelian autoimmunity. Dominant negative mutations of AIRE are associated to autoimmunity but as mild forms of APECED rather than to non-Mendelian organ specific autoimmunity. The lack of association of common AIRE polymorphisms with polygenic autoimmune diseases is counterintuitive as many other genes less relevant for immunological tolerance have been found to be associated. These findings give rise to the intriguing possibility that evolution has excluded functionally modifying polymorphisms in AIRE. Copyright © 2016 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  4. [Chilaidity syndrome. Case report].

    Science.gov (United States)

    Candela, Stefano; Candela, Giancarlo; Di Libero, Lorenzo; Argano, Francesco; Romano, Ornella; Iannella, Iolanda

    2012-01-01

    Chilaidity syndrome is a mal position by bowel mal rotation o malfissation. It is more common in right side expecially in obese people. If asyimptomatic, the syndrome is an occasional comparison by radiology, surgical exploration by laparoscopy or autopsy, otherwise, if symptomatic, there are obstructive symptoms,abdominal pain, nausea, vomiting, abdominal distension, flatulence, breath, constipation and anorexia. Diagnosis is radiological. We present a rare case of this syndrome in a man with serious obstructive symptoms.

  5. The etiology of autoimmune diseases: the case of myasthenia gravis.

    Science.gov (United States)

    Bach, Jean-François

    2012-12-01

    Autoimmune diseases comprise a wide variety of disorders, from those that are acute and spontaneously regressive to chronic diseases. Their occurrence is the sign of a loss of tolerance to self-antigens. With few exceptions, the etiology of autoimmune diseases has not been clearly established. In all cases, it is complex, involving genetic, epigenetic, and environmental factors. In this article I will attempt to analyze the various factors that have a triggering or protecting role, with particular reference to myasthenia gravis. © 2012 New York Academy of Sciences.

  6. Effect of chemotherapy on autoimmune hepatitis in thymoma:a case report and literature review

    Institute of Scientific and Technical Information of China (English)

    Nesrine Mejri; Imen Chabchoub; Ines Gargouri; Imtinen Belaid; Faten Ezairi; Sihem Hmissa; Slim Ben Ahmed

    2013-01-01

    Autoimmune hepatitis (AIH) has rarely been described as an autoimmune paraneoplastic syndrome of thymoma. This case is the seventh case of AIH revealed by cholestasis few years after the diagnosis of thymoma and the first case treated with chemotherapy alone. We report in this paper a new approach to this rare severe condition. A 29 year-old man presented with chest pain and dyspnea with a history of thymoma surgically removed 4 years ago. CT scan showed the recurrence of an anterior mediastinal mass. Biology showed elevated liver enzymes and profound cholestasis. No sign of viral or toxic hepatitis or bile duct abnormalities were observed. Autoimmune antibodies, except for the anti-nuclear antibody, were negative. Liver biopsy showed active chronic AIH. The patient was diagnosed with recurrent thymoma with AIH and underwent 6 cycles of chemotherapy. A complete response on thymoma and cholestasis was obtained after 10 months of follow-up. Steroids and immunosuppressors are the standard treatment for AIH. The effect of chemotherapy as a specific treatment of this paraneoplastic syndrome needs to be considered.

  7. Lupus and autoimmune shock: Use of intravenous gammaglobulin. Case report and proposal for a new designation

    Directory of Open Access Journals (Sweden)

    Hernández Bautista Victor Manuel

    2014-07-01

    Full Text Available Shock is a state of hypotension and hypoperfusion which in turn leads to cellular dysfunction, neuroendocrine responses, inflam- matory mediator release, and alterations of the microcirculation. There are various ways of classifying tissue perfusion failure. A simple method is dividing them into a distributive category, such as septic or anaphylactic shock, and a non-distributive category such as hypovolemic shock. There is extensive knowledge on septic shock; the interaction between bacteria and the antigen presenting cell receptor (TRL-2, TRL-4 releases a proinflammatory cytokine storm, favoring the production of nitric oxide, thus perpetuating the hypotensive state. The imbalance between proinflammatory and anti-inflammatory cytokines creates an immunologic dysfunction, which favors the systemic inflammatory response syndrome and unleashes a shock state, a situation named immunologic disso- nance by Dr. Roger Bone in 1996. From our perspective, this term explains the alterations presented in one particular case, where the cornerstone is the dysfunction of the patient’s immune system and its culmination in a distributive form of shock, which from our hypotheti- cal perspective is of autoimmune origin. We consider autoimmunity to be the platform leading to the state of immunologic dissonance responsible for autoimmune shock, which we believe merits a non-traditional approach. For this reason in a case in which we suspect shock based on autoimmunity, intravenous gammaglobulin was used in conjunction with a bolus of methylprednisolone in an attempt to counteract the immunologic dissonance; satisfactory results were obtained.

  8. Anesthetic management in a case of antiphospholipid antibody syndrome.

    Science.gov (United States)

    Mikkiliineni, Venkata Rama Rao; Panidapu, Nagarjuna; Parasa, Mrunalini; Shaik, Mastan Saheb

    2015-01-01

    Antiphospholipid antibody (APLA) syndrome is one of the most common thrombocytophilias but, unfortunately, goes unrecognized most often. It is an auto-immune disorder in which thrombotic events and a recurrent fetal loss occur in the presence of antibodies to phospholipids. It is the most common acquired hyper-coagulable state. There is a limited literature on peroperative management of patients with this syndrome. We report a case of APLA syndrome in a parturient due to its rarity and complexity.

  9. Eagle syndrome: case report.

    Science.gov (United States)

    Uludağ, İrem Fatma; Öcek, Levent; Zorlu, Yaşar; Uludağ, Burhanettin

    2013-01-01

    Eagle syndrome is an aggregate of symptoms caused by an elongated styloid process, most frequently resulting in headache, facial pain, dysphagia and sensation of foreign body in throat. The proper diagnosis is not difficult with clinical history, physical examination and radiographic assessment if there is a sufficient degree of suspicion. The treatment is very effective. We report here a typical case of Eagle syndrome which was misdiagnosed as trigeminal neuralgia for many years and was treated with carbamazepine. We aim to point the place of Eagle syndrome in the differential diagnosis of facial pain. We also re-emphasize the usefulness of the three-dimensional computed tomography in the diagnosis of Eagle syndrome. Even though Eagle syndrome is a rare condition, in cases of facial pain refractory to treatment or unexplained complaints of the head and neck region, it should be considered in the differential diagnosis as it has therapeutic consequences.

  10. Ocular Perforation and Autoimmune Disease: A Series of Cases at a University Hospital

    OpenAIRE

    Aldana-Bitar, Jairo Alejando; Pontificia Universidad Javeriana; Fernández-Ávila, Daniel G.; Pontificia Universidad Javeriana; Díaz, María Claudia; Pontificia Universidad Javeriana; Gómez, Juan Sebastián; Pontificia Universidad Javeriana; Rojas, Iván Gabriel; Pontificia Universidad Javeriana; Peña, Julián; Pontificia Universidad Javeriana; Gutiérrez, Juan Martín; Pontificia Universidad Javeriana

    2015-01-01

    In this article, is presented the identification and the reviewing of those persons who went to the San Ignacio University Hospital with ocular perforation and rheumatologic disease. We found 5 cases (3 women and 2 men), with diagnoses of rheumatoid arthritis, Sjögren’s syndrome and systemic lupus erythematosus. This article presents the cases and review the information available on this complication in autoimmune disease. En este artículo se presenta la identificación y la revisión de aqu...

  11. Two paraneoplastic autoimmune syndromes: limbic encephalitis and palmar fasciitis in a patient with small cell lung cancer

    Directory of Open Access Journals (Sweden)

    Irina Lazarev

    2015-09-01

    Full Text Available Small cell lung cancer (SCLC is characterized by a relatively high rate of autoimmune phenomena. Paraneoplastic limbic encephalitis (PLE is an autoimmune syndrome in which a non-neural tumor containing an antigen normally present in the nervous system precipitates an antibody attack on neural tissues. Patients with PLE usually present with rapidly progressive short-term memory deficits, confusion or even dementia. Palmar fasciitis and polyarthritis syndrome (PFPAS is another autoimmune syndrome characterized by rheumatologic manifestations, especially involving the palms of the hands. We report a case of a 59-year old woman who presented with worsening neurological symptoms of two-week duration, and later coma. The combined clinical, serological, and imaging studies suggested a diagnosis of PLE. A chest computed tomographic scan showed a 1.2 cm-diameter mass in the upper lobe of the left lung that was surgically removed and showed SCLC. Following surgery, neurological symptoms rapidly improved, allowing the patient to receive adjuvant chemotherapy. While in remission for both SCLC and PLE, the patient developed pain, soft-tissue swelling, and stiffness in both palms, suggesting the diagnosis of PFPAS. Five months following the diagnosis of palmar fasciitis, SCLC relapsed with mediastinal and cervical lymphadenopathy. This case report underlines the continuous interaction of SCLC with the immune system, expressed by coexistence of two rare paraneoplastic diseases, PLE, and PFPAS, in a patient with SCLC. While symptoms related to PLE preceded the initial diagnosis of SCLC, other symptoms related to PFPAS preceded relapse.

  12. Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease.

    Science.gov (United States)

    Nabhani, Schafiq; Ginzel, Sebastian; Miskin, Hagit; Revel-Vilk, Shoshana; Harlev, Dan; Fleckenstein, Bernhard; Hönscheid, Andrea; Oommen, Prasad T; Kuhlen, Michaela; Thiele, Ralf; Laws, Hans-Jürgen; Borkhardt, Arndt; Stepensky, Polina; Fischer, Ute

    2015-09-01

    Autoimmune lymphoproliferative syndrome is frequently caused by mutations in genes involved in the Fas death receptor pathway, but for 20-30% of patients the genetic defect is unknown. We observed that treatment of healthy T cells with interleukin-12 induces upregulation of Fas ligand and Fas ligand-dependent apoptosis. Consistently, interleukin-12 could not induce apoptosis in Fas ligand-deficient T cells from patients with autoimmune lymphoproliferative syndrome. We hypothesized that defects in the interleukin-12 signaling pathway may cause a similar phenotype as that caused by mutations of the Fas ligand gene. To test this, we analyzed 20 patients with autoimmune lymphoproliferative syndrome of unknown cause by whole-exome sequencing. We identified a homozygous nonsense mutation (c.698G>A, p.R212*) in the interleukin-12/interleukin-23 receptor-component IL12RB1 in one of these patients. The mutation led to IL12RB1 protein truncation and loss of cell surface expression. Interleukin-12 and -23 signaling was completely abrogated as demonstrated by deficient STAT4 phosphorylation and interferon γ production. Interleukin-12-mediated expression of membrane-bound and soluble Fas ligand was lacking and basal expression was much lower than in healthy controls. The patient presented with the classical symptoms of autoimmune lymphoproliferative syndrome: chronic non-malignant, non-infectious lymphadenopathy, splenomegaly, hepatomegaly, elevated numbers of double-negative T cells, autoimmune cytopenias, and increased levels of vitamin B12 and interleukin-10. Sanger sequencing and whole-exome sequencing excluded the presence of germline or somatic mutations in genes known to be associated with the autoimmune lymphoproliferative syndrome. Our data suggest that deficient regulation of Fas ligand expression by regulators such as the interleukin-12 signaling pathway may be an alternative cause of autoimmune lymphoproliferative syndrome-like disease. Copyright© Ferrata Storti

  13. [Relapse of autoimmune hemolytic anemia in Evans syndrome after thymectomy for pure red cell aplasia].

    Science.gov (United States)

    Higuchi, Masakazu; Osaki, Koichi; Yamano, Yujiro

    2007-06-01

    A 81-year-old woman was referred to our hospital with pure red cell aplasia (PRCA) associated with a thymoma in May 2005. She had previously suffered from Evans syndrome which had been improved by prednisolone in 1999. She underwent a thymectomy, however her anemia subsequently got worse. Reticulocytopenia was noted and a marrow erythroid series was aplastic. Furthermore, both direct and indirect Coombs tests were positive, and the serum haptoglobin level was low. Based on these findings, the patient was diagnosed as having PRCA complicated with relapsed autoimmune hemolytic anemia (AIHA). The PRCA and AIHA were successfully treated with prednisolone and cyclosporine. To our knowledge, only one case of the PRCA complicated with AIHA after thymectomy has been reported. FoxP3 positive regulatory T-cells (Treg), which maintain immunological self-tolerance, were readily detectable in the excised thymoma. Thus, thymectomy resulted in removal of the Treg pool and might explain the autoimmune activation, believed to be one of the mechanisms of the post-thymectomy recurrence of the AIHA in this case.

  14. [Cold autoimmune hemolytic anemia complicated with relapsed myelodysplastic syndrome after allogeneic hematopoietic cell transplantation].

    Science.gov (United States)

    Okamura, Hiroshi; Nakane, Takahiko; Fujino, Keizo; Koh, Shiro; Yoshimura, Takuro; Nishimoto, Mitsutaka; Hayashi, Yoshiki; Koh, Hideo; Nakao, Yoshitaka; Nakamae, Hirohisa; Hino, Masayuki

    2015-04-01

    Myelodysplastic syndrome (MDS) is known to often be complicated by a range of autoimmune diseases. We herein present a case with MDS complicated by cold autoimmune hemolytic anemia (cold AIHA). The patient was a 51-year-old woman. She was diagnosed with MDS (refractory cytopenia with multilineage dysplasia) in May 2009. In January 2010, she underwent unrelated allogeneic bone marrow transplantation but was re-admitted in October 2010 for treatment of relapsed MDS. Despite daily transfusions of red blood cells, her anemia failed to improve. Her laboratory examinations showed a low haptoglobin level and elevation of indirect bilirubin and LDH. The direct Coombs test was positive at a low and at room temperature and cold agglutinin was negative. After confirming the diagnosis of cold AIHA, all transfusion fluids were warmed but her anemia still failed to improve. In addition to the warmed transfusion fluids, we administered corticosteroids, immunosuppressive agents and high-dose intravenous immunoglobulin infusions. This management strategy ameliorated the patient's hemolytic anemia. To our knowledge, MDS cases complicated by cold AIHA are rare. Our patient thus provides a valuable contribution to medical knowledge.

  15. Primary Biliary Cirrhosis-Related Autoimmune Hemolytic Anemia: Three Case Reports and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Yu Tian

    2009-08-01

    Full Text Available The association between primary biliary cirrhosis (PBC and autoimmune hemolytic anemia (AIHA is uncommon; only fourteen such case reports have been described. In this report, three patients who developed AIHA on the basis of PBC underwent successful therapy with corticosteroids and ursodeoxycholic acid (UDCA. Patient 3 was more complicated, suffering from PBC, Evans syndrome, Sjögren syndrome and Klinefelter syndrome simultaneously. This has not previously been reported in the world literature. Review of all fifteen cases showed that there is a prominent occurrence sequence that AIHA might take place on the basis of PBC. With sufficient doses of corticosteroids or immunosuppressant therapy, besides hemolysis under effective control, liver function also improved. According to the criteria of secondary AIHA, we may call them PBC-related AIHA. Thus, patients with PBC with serum bilirubin levels rising suddenly should undergo screening for associated hemolysis. Recommended treatment for PBC-related AIHA includes sufficient doses of corticosteroids to control the hemolysis in the acute phase, and immunosuppressant or adequate dose of UDCA to maintain therapy. These case reports have been increasing in recent years, so further reserch is needed to illustrate the incidence and natural courses of these two organ-specific autoimmune diseases.

  16. Kleine–Levin Syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Taís Figueiredo de Araújo Lima

    2014-06-01

    Full Text Available The Kleine–Levin Syndrome is a differential diagnosis for patients with diurnal excessive sleepiness and a suspicion of narcolepsy. It is characterized by paroxysmal attacks of diurnal excessive sleepiness, associated with one or more symptoms of hyperphagia, hypersexuality, coprolalia and copropraxia. During crisis intervals, there are no symptoms. This pathology predominantly manifests itself in teenagers, being more frequent among males. The course of this disease is unpredictable, with variable duration and frequency. The most accepted physiopathology is that of a hypothalamic dysfunction, although and recently, there has appeared a hypothesis of a post-infectious autoimmune disorder. These patients show an elevated body mass index, which can predispose to association with comorbidities such as the sleep obstructive apnea syndrome. Treatment involves medications with different effects, but there is no specific and effective therapy. Our article shows a classic case of Kleine–Levin Syndrome associated with sleep obstructive apnea syndrome, a rare association in the literature.

  17. Sweet syndrome on a patient with autoimmune hepatitis on azathioprine and CMV infection

    OpenAIRE

    Xenophontos, Eleni; Ioannou, Antreas; Constantinides, Thrasos; Papanicolaou, Eleni

    2016-01-01

    Sweet syndrome (SS) is a rare inflammatory process presenting with painful erythematous skin eruptions, accompanied by fever and neutrophilia. It is associated with upper respiratory infection in fertile women (classic form), malignancy, infections, drugs and autoimmune diseases. Its pathogenesis remains to be determined. Nevertheless, cytokines may have a prominent role, due to a rapid response after corticosteroid administration. We describe a 32-year-old female with autoimmune hepatitis on...

  18. Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS).

    Science.gov (United States)

    Teachey, David T; Seif, Alix E; Grupp, Stephan A

    2010-01-01

    Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of T cell dysregulation caused by defective Fas-mediated apoptosis. Patients with ALPS can develop a myriad of clinical manifestations including lymphadenopathy, hepatosplenomegaly, autoimmunity and increased rates of malignancy. ALPS may be more common that originally thought, and testing for ALPS should be considered in patients with unexplained lymphadenopathy, hepatosplenomegaly, and/or autoimmunity. As the pathophysiology of ALPS is better characterized, a number of targeted therapies are in preclinical development and clinical trials with promising early results. This review describes the clinical and laboratory manifestations found in ALPS patients, as well as the molecular basis for the disease and new advances in treatment.

  19. Cardiac tamponade due to low-volume effusive constrictive pericarditis in a patient with uncontrolled type II autoimmune polyglandular syndrome.

    Science.gov (United States)

    Palmer, William C; Kurklinsky, Andrew; Lane, Gary; Ussavarungsi, Kamonpun; Blackshear, Joseph L

    2014-03-01

    Type II autoimmune polyglandular syndrome (APS), a relatively common endocrine disorder, includes primary adrenal insufficiency coupled with type 1 diabetes mellitus and/or autoimmune primary hypothyroidism. Autoimmune serositis, an associated disease, may present as symptomatic pericardial effusion. We present a case of a 54-year old male with APS who developed pericarditis leading to cardiac tamponade with a subacute loculated effusion. After urgent pericardiocentesis intrapericardial pressure dropped to 0, while central venous pressures remain elevated, consistent with acute effusive constrictive pericarditis. Contrast computerized tomography confirmed increased pericardial contrast enhancement. The patient recovered after prolonged inotropic support and glucocorticoid administration. He re-accumulated the effusion 16 days later, requiring repeat pericardiocentesis. Effusive-constrictive pericarditis, an uncommon pericardial syndrome, is characterized by simultaneous pericardial inflammation and tamponade. Prior cases of APS associated with cardiac tamponade despite low volumes of effusion have been reported, albeit without good demonstration of hemodynamic findings. We report a case of APS with recurrent pericardial effusion due to pericarditis and marked hypotension with comprehensive clinical and hemodynamic assessment. These patients may require aggressive support with pericardiocentesis, inotropes, and hormone replacement therapy. They should be followed closely for recurrent tamponade.

  20. 自身免疫性淋巴增生综合征一例并文献复习%A case of autoimmune lymphoproliferactive syndrome and literature review

    Institute of Scientific and Technical Information of China (English)

    刘力; 胡坚; 马继军; 李小洁; 李芳芳; 李崇巍

    2014-01-01

    高.治疗以激素和免疫抑制剂为主.%Objective To summarize the clinical characteristics,diagnosis and treatment of a case with autoimmune lymphoproliferative syndrome (ALPS).Method The patient was diagnosed as autoimmune lymphoproliferactive syndrome (ALPS) after being admitted to the Department of Rheumatism and Immunology of Tianjin Children's Hospital in February 20,2014.The clinical characteristics,physical examination,laboratory tests,gene tests,and treatment process were analyzed and related literature was reviewed.Result The patient was a 16-month-old boy.Since the first month of life,he started to have repeatedly fever,diarrhea,shortness of breath,lymphadenopathy,hepatosplenomegaly,anemia(HGBmin 50 g/L) and thrombocytopenia (min 35 × 109/L).But multiple exams showed a normal peripheral blood leukocyte count,hypergammaglobulinemia (IgG 19 800 mg/L,IgA 1 710 mg/L,IgM 2 590 mg/L)and significantly increased serum vitamin B12.Flow cytometric measures showed that CD3 + CD4-CD8-T lymphocytes significantly increased (> 10%) at four times.The count of CD3 + TCRαβ+ CD4-CD8 T lymphocytes (double negative T cells; DNTs) > 3% twice.The genetic test showed that 309th FAS gene area showed heterozygous mutations,the boy was diagnosed as ALPS.Added examinations of lymphocytes apoptosis induced by FAS was positive.He was treated with prednisone 15 mg once daily and immunomodulator 150 mg three times a day,while in maintaining period with normal levels of hemoglobin and platelet,the dose of prednisone was reduced gradually.Till now,the patient has been treated and observed for 8 months.We retrieved the reports of ALPS in the databases at home and abroad published in recent 10 years,more than 400 cases reported from foreign countries,but there were only 5 domestic cases.Among those,4 had onset in infancy and 1 at 6-years of age.All the cases presented servere lymphadenopathy and hepatosplenomegaly with anemia (4 of them with hemolytic anemia) and

  1. HEPATITIS A VIRAL INFECTION TRIGGERS AUTOIMMUNE HEPATITIS IN A PATIENT: A CASE REPORT

    OpenAIRE

    Jakkal Darpan; Solanke Sachin

    2014-01-01

    Hepatitis A virus is an infectious agent known to trigger autoimmune hepatitis (AIH). We present a case in a 40years old woman with Autoimmune hepatitis who presented 4 months after viral hepatits A infection. Diagnosis of hepatitis A virus was attributed on viral serological tests and autoimmune hepatitis (AIH) in accordance with international autoimmune hepatitis group system. [1] She is in remission with steroid therapy. The case we present is unusual with paucity ob...

  2. Management of autoimmune neutropenia in Felty's syndrome and systemic lupus erythematosus.

    Science.gov (United States)

    Newman, Kam A; Akhtari, Mojtaba

    2011-05-01

    Autoimmune neutropenia, caused by neutrophil-specific autoantibodies is a common phenomenon in autoimmune disorders such as Felty's syndrome and systemic lupus erythematosus. Felty's syndrome is associated with neutropenia and splenomegaly in seropositive rheumatoid arthritis which can be severe and with recurrent bacterial infections. Neutropenia is also common in systemic lupus erythematosus and it is included in the current systemic lupus classification criteria. The pathobiology of the autoimmune neutropenia in Felty's syndrome and systemic lupus erythematosus is complex, and it could be a major cause of morbidity and mortality due to increased risk of sepsis. Treatment should be individualized on the basis of patient's clinical situation, and prevention or treatment of the infection. Recombinant human granulocyte colony-stimulating factor is a safe and effective therapeutic modality in management of autoimmune neutropenia associated with Felty's syndrome and systemic lupus erythematosus, which stimulates neutrophil production. There is a slight increased risk of exacerbation of the underlying autoimmune disorder, and recombinant human granulocyte colony-stimulating factor dose and frequency should be adjusted at the lowest effective dose.

  3. A case of Kearns-Sayre sindrome with autoimmune thyroiditis and complete atrio-ventricular block.

    Science.gov (United States)

    Berio, A; Piazzi, A

    2006-06-01

    The Kearns-Sayre syndrome, (characterized by its onset before the age of 20 years, chronic ophthalmoplegia, pigmentary retinal degeneration and at least one of the following symptoms: ataxia, heart block and high protein content in the cerebrospinal fluid) is a severe variant of chronic progressive external ophthalmoplegia with frequent rearrangements of the mitochondrial DNA (mtDNA). The aim of this paper is to report a sporadic paediatric case of Kearns-Sayre syndrome with mtDNA heteroplasmic deletion, absence of cytochrome c-oxidase in many muscle fibers, autoimmune thyroiditis, complete atrio-ventricular heart block in which the diagnosis of subclinical hypothyroiditis associated with autoimmune thyroid disease was made. The subclinical hypothyroidism, more severe in the presence of thyroid antibodies, may have contributed to the pathogenesis of cardiovascular disease. We hypothesized that in this patient, predisposed by mitochondrial deletion, anti-thyroid antibodies may have interfered with the mitochondrial function of conduction heart system, causing atrio-ventricular heart block. It seems important to study anti-thyroid antibodies in every case of Kearn-Sayre syndrome, specially if cardiac rhythm disturbances are present.

  4. Autoimmune lymphoproliferative syndrome (ALPS) caused by Fas (CD95) mutation mimicking sarcoidosis.

    Science.gov (United States)

    Müllauer, Leonhard; Emhofer, Josef; Wohlfart, Sabine; Pichlhöfer, Bettina; Stary, Susanne; Ebetsberger, Georg; Mannhalter, Christine; Chott, Andreas

    2008-02-01

    Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder associated with defects in apoptosis, characterized by childhood onset of lymphadenopathy, splenomegaly, hyperimmunoglobulinemia, and autoimmune disease. ALPS is most frequently associated with a mutation in the cell death receptor Fas (CD95). Very rarely a mutation in caspase 10 is present. An increase of CD4/CD8 double negative T cells in the peripheral blood and lymph nodes is a feature characteristic of ALPS. Additionally, histiocytic proliferations resembling sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) were reported recently in patients with ALPS. In the rare cases with a caspase 10 mutation an accumulation of dendritic cells in lymphoid organs was noted. We describe a different, sarcoidosislike, histiocytic infiltration of lymph nodes that persisted for years in a girl, that was initially supposed to suffer from sarcoidosis, but was eventually diagnosed as ALPS, associated with a missense mutation in the intracellular death domain of Fas. This sarcoidosislike histologic picture extends the spectrum of histiocytic lymph node alterations observed in ALPS and alerts of a potential diagnostic pitfall.

  5. Primary antiphospholipid antibody syndrome and autoimmune haemolytic anaemia--a rare combination.

    Science.gov (United States)

    Suhail, Saera; Baig, Muhammad Shakil; Humail, Syed Mujahid; Riaz, Amir

    2009-06-01

    Primary Antiphospholipid Antibody Syndrome (PAPS) and Autoimmune haemolytic anemia (AIHA) is a very rare combination. Antiphospholipid Antibody Syndrome (APS) with underlying SLE, however, has a well documented association with Coomb's positive Auoimmune Haemolytic Anaemia. We describe a young girl with PAPS presenting with deep venous thrombosis, livedo reticularis and features of AIHA. The patient was refractory to treatment for 5 years however, her condition improved dramatically with anticoagulants, corticosteroid therapy and the addition of hydroxychloroquine and azathioprin. We have also discussed hydroxychloroquine therapy in PAPS which is not yet fully established and the probability of this patient developing other autoimmune disorders in future.

  6. Autoimmune clustering: sweet syndrome, Hashimoto thyroiditis, and psoriasis.

    Science.gov (United States)

    Saeed, Mohammad; Brown, Grace E; Agarwal, Abhishek; Pellowski, Donna; Jacks, Jennifer; Liverett, Hazel K; Vyas, Keyur S

    2011-03-01

    Acute febrile neutrophilic dermatosis (AFND; Sweet syndrome) is characterized by a constellation of symptoms and findings: fever, neutrophilia, and tender erythematous skin lesions that typically show an upper dermal infiltrate of mature neutrophils. Whereas some cases are idiopathic, others have been associated with a variety of disorders. In this report, we describe the occurrence of AFND with chronic lymphocytic thyroiditis (Hashimoto thyroiditis) and preexisting psoriasis. This is the first case report of the association of chronic lymphocytic thyroiditis with AFND from the United States and only the third reported in the world's literature. Because the coexistence of these disorders is rare, an underlying common pathogenic mechanism is a possibility. We postulate this to be CD4(+) T-cell dysfunction.

  7. Autoimmune/autoinflammatory syndrome induced by adjuvants (ASIA syndrome) in commercial sheep.

    Science.gov (United States)

    Luján, Lluís; Pérez, Marta; Salazar, Eider; Álvarez, Neila; Gimeno, Marina; Pinczowski, Pedro; Irusta, Silvia; Santamaría, Jesús; Insausti, Nerea; Cortés, Yerzol; Figueras, Luis; Cuartielles, Isabel; Vila, Miguel; Fantova, Enrique; Chapullé, José Luis Gracia

    2013-07-01

    We describe a form of the autoimmune/autoinflammatory syndrome induced by adjuvants (ASIA syndrome) in commercial sheep, linked to the repetitive inoculation of aluminum-containing adjuvants through vaccination. The syndrome shows an acute phase that affects less than 0.5% of animals in a given herd, it appears 2-6 days after an adjuvant-containing inoculation and it is characterized by an acute neurological episode with low response to external stimuli and acute meningoencephalitis, most animals apparently recovering afterward. The chronic phase is seen in a higher proportion of flocks, it can follow the acute phase, and it is triggered by external stimuli, mostly low temperatures. The chronic phase begins with an excitatory phase, followed by weakness, extreme cachexia, tetraplegia and death. Gross lesions are related to a cachectic process with muscular atrophy, and microscopic lesions are mostly linked to a neurodegenerative process in both dorsal and ventral column of the gray matter of the spinal cord. Experimental reproduction of ovine ASIA in a small group of repeatedly vaccinated animals was successful. Detection of Al(III) in tissues indicated the presence of aluminum in the nervous tissue of experimental animals. The present report is the first description of a new sheep syndrome (ovine ASIA syndrome) linked to multiple, repetitive vaccination and that can have devastating consequences as it happened after the compulsory vaccination against bluetongue in 2008. The ovine ASIA syndrome can be used as a model of other similar diseases affecting both human and animals. A major research effort is needed in order to understand its complex pathogenesis.

  8. [Neuromyelitis optica spectrum disorders as initial presentation of Sjögren's syndrome: A case report].

    Science.gov (United States)

    Alva Díaz, Carlos; Andamayo Villalba, Luis; Mori, Nicanor; Ventura Chilón, Jésica Janet; Romero, Roberto

    2016-02-29

    Neuromyelitis Optica Spectrum Disorder (NMOSD) is a rare systemic autoimmune disease which is sometimes found in association with other autoimmune disorders including Sjogren's syndrome. Neurological manifestations occur in 20% to 25% of diagnosed cases of Sjögren's syndrome; however, less than 5% of patients with Sjögren's syndrome have neurological manifestations as the initial presenting feature of Sjögren's syndrome. We report the case of an elderly female with longitudinal myelitis as a presenting feature who had positive antibody to aquaporin-4 (NMO-IgG) and Sjögren's syndrome.

  9. Non-Celiac Gluten Sensitivity and Autoimmunity. A Case Report.

    Directory of Open Access Journals (Sweden)

    Carlos Isasi

    2014-12-01

    Full Text Available Introduction, objective: To present a case report in which the finding of non-coeliac gluten sensitivity was decisive for the treatment of a complex autoimmune disease. Materials and methods: A 43-year-old woman with polyarthritis, psoriatic features, anti-SSA/Ro and anti-cyclic citrullinated peptide antibodies, with refractory course, was evaluated for gluten sensitivity despite negative serology for coeliac disease. Results: The patient carried the HLA DQ2 haplotype and duodenal biopsy showed lymphocytic enteritis. A gluten-free diet resolved the clinical picture and permitted tapering of immunosuppressive therapy. Conclusion: Non-coeliac gluten sensitivity can be associated with autoimmunity despite the absence of the specific autoantibodies of coeliac disease.

  10. COEXISTENCE OF ADDISON'S DISEASE AND PERNICIOUS ANEMIA: IS THE NEW CLASSIFICATION OF AUTOIMMUNE POLYGLANDULAR SYNDROME APPROPRIATE?

    Science.gov (United States)

    Vrkljan, Ana Marija; Pašalić, Ante; Strinović, Mateja; Perić, Božidar; Kruljac, Ivan; Miroševć, Gorana

    2015-06-01

    A case of autoimmune polyglandular syndrome (APS) is presented. A 45-year-old man was admitted due to fatigue, malaise and inappetence. He had a history of primary hypothyroidism and was on levothyroxine substitution therapy. One year before, he was diagnosed with normocytic anemia and vitamin B12 deficiency, which was treated with vitamin B12 substitution therapy. Physical examination revealed hypotension and marked hyperpigmentation. Laboratory testing showed hyponatremia, hyperkaliemia and severe normocytic anemia. Endocrinological evaluation disclosed low morning cortisol and increased adrenocorticotropic hormone levels. Hence, the diagnosis of Addison's disease was established. Additional laboratory workup showed positive parietal cell antibodies. However, his vitamin B12 levels were increased due to vitamin B12 supplementation therapy, which was initiated earlier. Gastroscopy and histopathology of gastric mucosa confirmed atrophic gastritis. Based on prior low serum vitamin B12 levels, positive parietal cell antibodies and atrophic gastritis, the patient was diagnosed with pernicious anemia. Hydrocortisone supplementation therapy was administered and titrated according to urinary-free cortisol levels. Electrolyte disbalance and red blood cell count were normalized. This case report demonstrates rather unique features of pernicious anemia in a patient with Addison's disease. It also highlights the link between type II and type III APS. Not only do they share the same etiological factors, but also overlap in pathophysiological and clinical characteristics. This case report favors older classification of APS, which consolidates all endocrine and other organ-specific autoimmune diseases into one category. This is important since it might help avoid pitfalls in the diagnosis and treatment of patients with APS.

  11. ‘ASIA’ - Autoimmune/inflammatory syndrome induced by adjuvants: even and odd

    Directory of Open Access Journals (Sweden)

    G. Valesini

    2011-09-01

    Full Text Available Recently, Shoenfeld and Agmon-Levin described a potential new syndrome, namely ASIA - autoimmune/inflammatory syndrome induced by adjuvants, that comprises four medical conditions: siliconosis, the Gulf war syndrome, the macrophagic myofasciitis syndrome and post-vaccination phenomena, characterized by hyperactive immune responses accompanied by a similar complex of signs and symptoms. Most relevantly, these conditions share a linkage represented by adjuvants. This common soil may possibly induce autoimmune or auto-inflammatory diseases in humans as it was demonstrated in different animal models. Reconsidering under a unified umbrella this apparently detached condition is not only intriguing, but also provocative, and may help in unraveling novel pathogenetic mechanisms, preventive measures, and therapeutic targets.

  12. Autoimmune diseases induced by TNF-targeted therapies: analysis of 233 cases.

    Science.gov (United States)

    Ramos-Casals, Manuel; Brito-Zerón, Pilar; Muñoz, Sandra; Soria, Natalia; Galiana, Diana; Bertolaccini, Laura; Cuadrado, Maria-Jose; Khamashta, Munther A

    2007-07-01

    characteristics should be highlighted: the poor prognosis in spite of cessation of anti-TNF therapy, and the possible adjuvant role of concomitant methotrexate. In conclusion, the use of anti-TNF agents has been associated with an increasing number of cases of autoimmune diseases, principally cutaneous vasculitis, lupus-like syndrome, SLE, and interstitial lung disease.

  13. Sjögren syndrome and neuromyelitis optica spectrum disorder co-exist in a common autoimmune milieu

    Directory of Open Access Journals (Sweden)

    Diogo C. Carvalho

    2014-06-01

    Full Text Available The relationship between Sjögren’s syndrome (SS and neuromyelitis optica spectrum disorder (NMOSD is not completely understood. We report two patients with both conditions and review 47 other previously reported cases meeting currently accepted diagnostic criteria, from 17 articles extracted from PubMed. Out of 44 patients whose gender was informed, 42 were females. Mean age at onset of neurological manifestation was 36.2 years (10-74. Serum anti-AQP4-IgG was positive in 32 patients, borderline in 1, and negative in 4. Our Case 1 was seronegative for AQP4-IgG and had no non-organ-specific autoantibodies other than anti-SSB antibodies. Our Case 2 had serum anti-AQP4, anti-SSA/SSB, anti-thyreoglobulin and anti-acethylcholine-receptor antibodies, as well as clinical hypothyreoidism, but no evidence of myasthenia gravis. Our Cases and others, as previously reported in literature, with similar heterogeneous autoimmune response to aquaporin-4, suggest that SS and NMO co-exist in a common autoimmune milieu which is not dependent on aquaporin-4 autoimmunity.

  14. Boerhaave syndrome - case report

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    Biljana Radovanovic Dinic

    Full Text Available ABSTRACT CONTEXT: Boerhaave syndrome consists of spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part. It generally develops during or after persistent vomiting as a consequence of a sudden increase in intraluminal pressure in the esophagus. It is extremely rare in clinical practice. In 50% of the cases, it is manifested by Mackler's triad: vomiting, lower thoracic pain and subcutaneous emphysema. Hematemesis is an uncommon yet challenging presentation of Boerhaave's syndrome. Compared with ruptures of other parts of the digestive tract, spontaneous rupture is characterized by a higher mortality rate. CASE REPORT: This paper presents a 64-year-old female patient whose vomit was black four days before examination and became bloody on the day of the examination. Her symptoms included epigastric pain and suffocation. Physical examination showed hypotension, tachycardia, dyspnea and a swollen and painful abdomen. Auscultation showed lateral crackling sounds on inspiration. Ultrasound examination showed a distended stomach filled with fluid. Over 1000 ml of fresh blood was extracted by means of nasogastric suction. Esophagogastroduodenoscopy was discontinued immediately upon entering the proximal esophagus, where a large amount of fresh blood was observed. The patient was sent for emergency abdominal surgery, during which she died. An autopsy established a diagnosis of Boerhaave syndrome and ulceration in the duodenal bulb. CONCLUSION: Boerhaave syndrome should be considered in all cases with a combination of gastrointestinal symptoms (especially epigastric pain and vomiting and pulmonary signs and symptoms (especially suffocation.

  15. Purkinje cell cytoplasmic antibody type 1 (anti-Yo) autoimmunity in a child with Down syndrome.

    Science.gov (United States)

    Philipps, Guillermo; Alisanski, Susan B; Pranzatelli, Michael; Clardy, Stacey L; Lennon, Vanda A; McKeon, Andrew

    2014-03-01

    Purkinje cell cytoplasmic antibody type 1 (PCA-1)-IgG (or anti-Yo) is characteristically detected in women with gynecological or breast adenocarcinoma. We describe 2 unique scenarios occurring in 1 patient: PCA-1 paraneoplastic autoimmunity in a child, and a paraneoplastic neurological disorder in the context of Down syndrome. A child with Down syndrome and a history of adrenocortical carcinoma resected at age 1 year presented at age 7 years with cerebellar ataxia of subacute onset. Paraneoplastic serological and cerebrospinal fluid evaluations revealed PCA-1. Serological and biochemical studies also supported a diagnosis of subclinical autoimmune hypothyroidism. Extensive serum, urine, and radiological testing did not reveal a new or recurrent neoplasm. Neurological improvements after standard immunotherapy were lacking. Solid organ neoplasms are uncommon among patients with Down syndrome, but organ-specific autoimmune diseases are common. In our patient, Down syndrome-related impaired T regulatory lymphocyte function (previously reported) may have resulted in both enhanced immunity against an undetected solid neoplasm and paraneoplastic neurological (PCA-1) autoimmunity.

  16. Splenic marginal zone lymphoma with Evans' syndrome, autoimmunity, and peripheral gamma/delta T cells

    OpenAIRE

    2008-01-01

    Splenic marginal zone lymphoma with Evans? syndrome, autoimmunity, and peripheral gamma/delta T cells (Garcia-Mu?oz, Ricardo) Hematology Service, Clinica Universitaria, University of Navarra - Pamplona - SPAIN (Garcia-Mu?oz, Ricardo) Hematology Service, Clinica Universitaria, University of Navarra - Pamplona - SPAIN (Rodriguez-Otero, Paula) Hematology Service, Clinica Universitaria, University of Navarra - Pamplona - SPAIN (Pegenaute, Carlota) Department of...

  17. Autoimmune hemolytic anemia, as part of Evans' syndrome, caused by cold reactive IgG autoantibodies

    NARCIS (Netherlands)

    Jaarsma, AS; Muis, N; DeGraaf, SSN

    1996-01-01

    We describe a boy with Evans' syndrome, consisting of immune thrombocytopenic purpura at age 2 and autoimmune hemolytic anemia (AIHA) at age 4. AIHA was caused by cold Ige autoantibodies. This is unusual because AIHA is generally associated with either warm IgG antibodies or cold IgM antibodies. Tre

  18. [Sarcoidosis presenting with Raynaud's syndrome: a case report].

    Science.gov (United States)

    Nigro, A; Iannone, F; Grattagliano, V; Sanguedolce, F; Lapadula, G

    2004-01-01

    We report a case of association between sarcoidosis and Raynaud's syndrome. A 39 year old female presented fatigue, Raynaud's syndrome, IgG and erithrosedimentation rate (ESR) increase, polyarthralgy in which disseminated micronodular infiltration in the chest X-ray and histological demonstration of non-caseating epitheloid microgranulomas led to a diagnosis of concomitant sarcoidosis. Clues to the diagnosis of sarcoidosis coexisting with autoimmune disease are discussed.

  19. Psoriasis in autoimmune polyendocrine syndrome type I: A possible complication or a non-endocrine minor component?

    Directory of Open Access Journals (Sweden)

    Shital Amin Poojary

    2015-01-01

    Full Text Available Introduction: Autoimmune polyendocrine syndrome type I (APS I is an autosomal recessive systemic autoimmune disorder, affecting primarily endocrine glands, in which chronic mucocutaneous candidiasis is an early and prominent manifestation. We describe the rare occurrence of unstable psoriasis (with onset of pustular lesions in a case of APS I without mucocutaneous candidiasis. A patient presenting with unstable psoriasis (with onset of pustular lesions was detected to have persistent hypocalcemia which led to the diagnosis of hypoparathyroidism. Subsequently he was found to have hypergonadotrophic hypogonadism, primary adrenal insufficiency (compensated, and coeliac disease, thus confirming the diagnosis of APS I. Psoriasis is very rarely reported in APS I, possibly due to the protective effect of antibodies to Th17 cytokines, which are responsible for the occurrence of candidiasis in this syndrome. However, psoriasis could occur in APS I patients without mucocutaneous candidiasis, who lack these antibodies. In our patient, possible factors aggravating psoriasis include hypocalcemia due to hypoparathyroidism as well as coeliac disease via anti-tissue transglutaminase antibodies. However, defining psoriasis as a possible minor component of APS I would require further studies of the autoimmune regulator (AIRE gene functions.

  20. Autoimmune hepatitis: a manifestation of immune reconstitution inflammatory syndrome in HIV infected patients?

    Science.gov (United States)

    Murunga, Eric; Andersson, Monique; Rensburg, Christo van

    2016-07-01

    To describe a case series of patients presenting with autoimmune hepatitis after initiation of antiretroviral therapy. The demographics, clinical and laboratory features, and therapeutic response of HIV-infected patients on antiretroviral therapy presenting to our Division between November 2011 and November 2014 with elevated liver enzymes, were analysed. Nine patients with elevated liver enzymes, immunoglobulin G and autoimmune markers in keeping with autoimmune hepatitis were identified. All were anti-hepatitis C virus negative. One patient was hepatitis B surface antigen positive but his hepatitis B viral load was undetectable. All patients denied using any traditional herbal remedies. Liver histology was consistent with autoimmune hepatitis showing interface hepatitis and infiltrates of lymphocytes and plasma cells. Diagnosis was made according to the Autoimmune Hepatitis Group Scoring Systems. All patients were started on 15-20 mg of oral prednisone with clinical and biochemical improvement after 1-6 weeks. Immune reconstitution related autoimmune hepatitis should be considered in the differential diagnosis of hepatitis in the HIV-infected patient on antiretroviral therapy. Liver biopsy should be performed and the diagnosis confirmed using scoring systems developed by the Autoimmune Hepatitis Group. Timely treatment with prednisone and other agents for autoimmune hepatitis is indicated, and can be lifesaving in acute liver failure.

  1. Autoimmune Pancreatitis: A Case of Atypical Radiographic Findings

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    Shawhin Karimi

    2016-10-01

    Full Text Available Autoimmune pancreatitis (AIP is a rare pancreatic disorder that can present as a manifestation of a broader systemic inflammatory disease known as immunoglobulin G4-related systemic disease (IGG4-RSD. AIP is divided into two subtypes based on clinical, radiological, and histological findings. The disease can be mistaken for pancreatic cancer because of overlapping clinical and radiological findings, but early recognition can help avoid unnecessary surgery. We present a case of a 65-year-old female with suspected acute gallstone pancreatitis found to have AIP based on serology, radiological findings, and response to steroids.

  2. Clinical characteristics and the incidence of extrahepatic autoimmune disease and malignant tumor in primary biliary cirrhosis-autoimmune hepatitis overlap syndrome

    Institute of Scientific and Technical Information of China (English)

    杨蜜蜜

    2013-01-01

    Objective To analyze clinical pathologic characteristics of patients with primary biliary cirrhosis-autoimmune hepatitis overlap syndrome (PBC-AIH OS) ,the incidence of extrahepatic autoimmune disease,malignant tumor and the abdominal lymph node enlargement.Methods From January 2000 to January 2012,the clinical data of 49 patients with PBC-AIH OS were retrospectively analyzed,which included general information,clinical manifestations,biochemical parameters,immu-

  3. New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1.

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    Mireia Mora

    Full Text Available Autoimmune polyglandular syndrome type 1 (APS-1, OMIM 240300 is a rare autosomal recessive disorder, characterized by the presence of at least two of three major diseases: hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis. We aim to identify the molecular defects and investigate the clinical and mutational characteristics in an index case and other members of a consanguineous family. We identified a novel homozygous mutation in the splice site acceptor (SSA of intron 5 (c.653-1G>A in two siblings with different clinical outcomes of APS-1. Coding DNA sequencing revealed that this AIRE mutation potentially compromised the recognition of the constitutive SSA of intron 5, splicing upstream onto a nearby cryptic SSA in intron 5. Surprisingly, the use of an alternative SSA entails the uncovering of a cryptic donor splice site in exon 5. This new transcript generates a truncated protein (p.A214fs67X containing the first 213 amino acids and followed by 68 aberrant amino acids. The mutation affects the proper splicing, not only at the acceptor but also at the donor splice site, highlighting the complexity of recognizing suitable splicing sites and the importance of sequencing the intron-exon junctions for a more precise molecular diagnosis and correct genetic counseling. As both siblings were carrying the same mutation but exhibited a different APS-1 onset, and one of the brothers was not clinically diagnosed, our finding highlights the possibility to suspect mutations in the AIRE gene in cases of childhood chronic candidiasis and/or hypoparathyroidism otherwise unexplained, especially when the phenotype is associated with other autoimmune diseases.

  4. Rare case of nephrotic syndrome: Schimke syndrome

    Directory of Open Access Journals (Sweden)

    Anna Kelly Krislane de Vasconcelos Pedrosa

    Full Text Available Abstract Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case.

  5. A case of recurrent autoimmune hemolytic anemia during remission associated with acute pure red cell aplasia and hemophagocytic syndrome due to human parvovirus B19 infection successfully treated by steroid pulse therapy with a review of the literature.

    Science.gov (United States)

    Sekiguchi, Yasunobu; Shimada, Asami; Imai, Hidenori; Wakabayashi, Mutsumi; Sugimoto, Keiji; Nakamura, Noriko; Sawada, Tomohiro; Komatsu, Norio; Noguchi, Masaaki

    2014-01-01

    The patient was a 47-year-old man diagnosed as having autoimmune hemolytic anemia (AIHA) in April 2011. He also had a congenital chromosomal abnormality, a balanced translocation. Treatment with prednisolone (PSL) 60 mg/day resulted in resolution of the AIHA, and the treatment was completed in November 2011. While the patient no longer had anemia, the direct and indirect Coombs tests remained positive. In May 2013, he developed recurrent AIHA associated with acute pure red cell aplasia (PRCA) and hemophagocytic syndrome (HPS) caused by human parvovirus B19 (HPV B19) infection. Tests for anti-erythropoietin and anti-erythropoietin receptor antibodies were positive. Steroid pulse therapy resulted in resolution of the AIHA, PRCA, as well as HPS. The serum test for anti-erythropoietin antibodies also became negative after the treatment. However, although the serum was positive for anti-HPV B19 IgG antibodies, the patient continued to have a low CD4 lymphocyte count (CD4, <300/μL) and persistent HPV B19 infection (HPV B19 DNA remained positive), suggesting the risk of recurrence and bone marrow failure.

  6. 胰岛素自身免疫综合征六例报告并文献复习%Insulin Autoimmune Syndrome: A Report of 6 Cases and Literature Review

    Institute of Scientific and Technical Information of China (English)

    郑春梅; 母义明; 杨彦; 杨国庆; 巴建明; 王菲; 窦京涛; 谷伟军; 郭清华; 吕朝晖

    2012-01-01

    Objective To improve the reorganization of clinical physicians on insulin autoimmune syndrome (IAS) to timely diagnose and treat it Methods The data of six IAS patients, diagnosed and treated in General Hospital of People's Liberation Army from May 2008 to April 2011, were retrospectively studied, and the clinical feature of blood sugar was analyzed in combination with literature review. Results The six IAS accounted for 6. 38% (6/94) of the hypoglycemia diagnosed during the same period. Of the six cases 4 were caused by using methimazole while the other 2 had no definite cause, maybe be longing to idiopathic. They all had clinical symptoms of Wipple triad. The results of 75 g OGTT test showed both fasting and postprandial serum insulin increased, the serum insulin level was lower than 100 mU/L for only one of them, and higher than 1 000 mU/L for the other five. The range of C peptide was from 3. 3 to 30. 15 ng/ml. The results of Insulin autoantibody (IAA) in all the six patients were positive. The B-ultrasonography and computerized tomography of the pancreas were conducted to exclude space-occupying lesions. The medicines which may induce IAS were not employed or glucocorticoids in a small dosage, for example, prednisone 30 ~ 60 mg/d might be used, with the dosage being gradually reduced. Their symptoms of hypoglycemia diminished mostly a week later, and vanished in a month, with the recovery of plasma glucose level. Conclusion IAS may develop for a case of repeated episode of severe hypoglycemia, especially for cases with Graves Disease who take medicines containing hydro-sulphonyl group.%目的 提高临床医师对胰岛素自身免疫综合征(IAS)的认识,做到及时诊断和处理.方法 对2008年5月-2011年4月在解放军总医院诊断和治疗的6例IAS患者的临床资料进行回顾性分析,并结合文献分析IAS患者血糖的临床特点.结果 6例IAS患者占同期诊断的低血糖症(非糖尿病)患者的6.38%(6/94).其中四例是由

  7. Addison's disease in a patient with hypothyroidism: autoimmune polyglandular syndrome type 2.

    Science.gov (United States)

    Bain, Anna; Stewart, Munro; Mwamure, Peter; Nirmalaraj, Kingsley

    2015-08-03

    A 57-year-old Caucasian woman with known autoimmune hypothyroidism diagnosed in 2006 presented to hospital with flu-like symptoms and circulatory collapse. She reported weight loss and gradual increase in her skin pigmentation over a 1-year period. Aggressive fluid resuscitation was instituted. Hormonal tests showed primary adrenal insufficiency. Appropriate steroid replacement was started with rapid clinical response. Subsequent antibody tests confirmed the diagnosis of autoimmune polyglandular type 2 (Schmidt's) syndrome. The adrenal crisis had been precipitated by influenza virus type B infection. 2015 BMJ Publishing Group Ltd.

  8. Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS).

    Science.gov (United States)

    Rao, V Koneti; Carrasquillo, Jorge A; Dale, Janet K; Bacharach, Stephen L; Whatley, Millie; Dugan, Faith; Tretler, Jean; Fleisher, Thomas; Puck, Jennifer M; Wilson, Wyndham; Jaffe, Elaine S; Avila, Nilo; Chen, Clara C; Straus, Stephen E

    2006-02-01

    Autoimmune lymphoproliferative syndrome (ALPS) is associated with mutations that impair the activity of lymphocyte apoptosis proteins, leading to chronic lymphadenopathy, hepatosplenomegaly, autoimmunity, and an increased risk of lymphoma. We investigated the utility of fluorodeoxyglucose positron emission tomography (FDG-PET) in discriminating benign from malignant lymphadenopathy in ALPS. We report that FDG avidity of benign lymph nodes in ALPS can be high and, hence, by itself does not imply presence of lymphoma; but FDG-PET can help guide the decision for selecting which of many enlarged nodes in ALPS patients to biopsy when lymphoma is suspected.

  9. Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX syndrome: a paradigm of immunodeficiency with autoimmunity

    Directory of Open Access Journals (Sweden)

    Federica eBarzaghi

    2012-07-01

    Full Text Available Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX syndrome is a rare monogenic primary immunodeficiency (PID due to mutations of FOXP3, a key transcription factor for naturally occurring (n regulatory T (Treg cells. The dysfunction of Treg cells is the main pathogenic event leading to the multi-organ autoimmunity that characterizes IPEX syndrome, a paradigm of genetically determined PID with autoimmunity. IPEX has a severe early onset and can become rapidly fatal within the first year of life regardless of the type and site of the mutation. The initial presenting symptoms are severe enteritis and/or type 1 diabetes mellitus, alone or in combination with eczema and elevated serum IgE. Other autoimmune symptoms, such as hypothyroidism, cytopenia, hepatitis, nephropathy, arthritis, and alopecia, can develop in patients who survive the initial acute phase.The current therapeutic options for IPEX patients are limited. Supportive and replacement therapies combined with pharmacological immunosuppression are required to control symptoms at onset. However, these procedures can allow only a reduction of the clinical manifestations without a permanent control of the disease. The only known effective cure for IPEX syndrome is haematopoietic stem cell transplantation, but it is always limited by the availability of a suitable donor and the lack of specific guidelines for bone marrow transplant in the context of this disease.This review aims to summarize the clinical histories and genomic mutations of the IPEX patients described in the literature to date. We will focus on the clinical and immunological features that allow differential diagnosis of IPEX syndrome and distinguish it from other PID with autoimmunity. The efficacy of the current therapies will be reviewed, and possible innovative approaches, based on the latest highlights of the pathogenesis to treat this severe primary autoimmune disease of childhood, will be discussed.

  10. Development of systemic sclerosis in patients with autoimmune hepatitis: an emerging overlap syndrome

    Science.gov (United States)

    Assandri, Roberto; Monari, Marta; Montanelli, Alessandro

    2016-01-01

    Aim: We described two case reports of AIH/SSc overlap syndrome and reviewed literatures regarding this issue. Background: AIH is a chronic hepatitis of unknown aetiology characterized by continuing hepatocellular necrosis and inflammation. AIH overlap syndromes have been reported with other autoimmune diseases. Patients and methods: According to the classification criteria for SSc, we conducted a retrospective chart review of 35 cases with biopsy-proven AIH over the past 5 years at our institution. We reviewed the MEDLINE database using the appropriate key-words. Results: A chart review of 35 cases (M/F ratio 1:2, mean age 47.6±10.3 years) revealed nine patients (9/35, 25.7%) with CTD (four males and three females with a mean age of 45.1±8.4 years). All patients had ANA. Four patients were SSA/Ro positive UCTD (1/35, 2.85%), and six patients developed SLE (6/35, 17.1%). Only two female patients (2/35, 5.7%) with specific SSc AAb developed a systemic sclerosis. We described a patient with AIH who was diagnosed with diffuse systemic sclerosis-sine scleroderma with positive anti-centromere B and SSA/Ro52 KDa antibodies. We also reported a patient with AIH who was diagnosed limited SSc with contemporary presence of anti-centromere A and anti-RNA polymerase III antibody. Conclusion: We suggest that SSc may be considered to be one of the manifestations associated with AIH. Patients with AIH may have an increased risk to develop SSc and should be followed, especially when Raynaud phenomenon was found. PMID:27458514

  11. Anesthetic management of a patient with stiff-person syndrome and thymoma: a case report

    Institute of Scientific and Technical Information of China (English)

    QIN Xiang; WANG Dong-xin; WU Xin-min

    2006-01-01

    @@ Stiff-person syndrome (SPS, also called stiff-man syndrome) is a rare neurological disease with autoimmune features. It is characterized by fluctuating and progressive muscle rigidity, and episodic spasm that prominently involve axial and limb musculature.1,2 Herein we report a case of anesthetic management of a patient with SPS for thymectomy and review several other cases.

  12. Pregnancy and Evans´ syndrome: case report

    Directory of Open Access Journals (Sweden)

    Santiago Artucio

    2015-12-01

    Full Text Available Evans´ syndrome is the coexistence of autoimmune thrombocytopenia with autoimmune hemolytic anemia. It is rarely found during the course of a pregnancy. This makes treatment options more difficult, since some therapeutic drugs are teratogenic. The effects of Evans´ syndrome in the fetus and newborn are unknown given the low number of reported cases. We report the case of a patient with preconceptional diagnosis of Evans´ syndrome, who develops a hemolytic crisis during the course of a pregnancy, and diagnosis of intrauterine growth restriction (IUGR, treated at Clínica Ginecotocológica “A” at the Pereira Rossell Hospital Center, in Montevideo, Uruguay. Treatment options and evolution are analyzed, as well as previous reports.

  13. HLA-DR allele frequencies in Mexican mestizos with autoimmune liver diseases including overlap syndromes.

    Science.gov (United States)

    Zepeda-Gomez, Sergio; Montaño-Loza, Aldo; Zapata-Colindres, Juan Carlos; Paz, Francisco; Olivera-Martinez, Marco; López-Reyes, Alberto; Granados, Julio; Vargas-Alarcón, Gilberto

    2009-01-01

    Autoimmune liver diseases are sometimes difficult to differentiate from hepatic overlap syndromes (OS). The objective of this study was to use polymorphic genetic markers to better distinguish clinical heterogeneity in autoimmune liver disease. Since autoimmunity is the result of autoantibody production we studied HLA-DR alleles in 20 patients with autoimmune hepatitis (AIH), 16 with primary biliary cirrhosis (PBC), 10 with OS, and in 99 ethnically matched healthy individuals. Patients with OS had significantly higher alkaline phosphatase and total bilirubin levels than patients with AIH. OS patients had a higher prevalence of positive antinuclear antibodies and a higher AIH score than patients with PBC. Patients with OS also had higher total immunoglobulin levels (IgG isotype) as compared to patients with PBC. We found in PBC patients a higher gene frequency of HLA-DR4 and DR1 as compared to healthy controls (p = 0.03, OR = 2.2 and p = 0.004, OR = 4.3, respectively) and to OS patients (p = 0.01, OR = 6.8, and p = 0.004, OR = 10.0, respectively). On the other hand, the gene frequency of HLADR5 was significantly decreased in the total group of patients as compared to healthy controls suggesting a protective role of this allele for developing autoimmune liver disease.

  14. High-dose-rate intraluminal brachytherapy for paraneoplastic autoimmune multiorgan syndrome.

    Science.gov (United States)

    Lee, Sun-Young; Kim, Jong-Hyun; Cho, Dong-Hyu

    2016-09-01

    Paraneoplastic autoimmune multiorgan syndrome (PAMS), also known as paraneoplasic pemphigus, involves the skin, internal organs and mucosa. PAMS-associated mortality may occur as a result of autoantibody formation against internal tumors and their infiltration into organs other than the skin lesions that characterize PAMS. The most common symptoms of PAMS include pain associated with continuous oral ulceration and resistance to pharmacological treatment. The present study reports the case of a 42-year-old female patient who was admitted with an 8-month history of erosive skin lesions within the trunk region, oral mucosa and vaginal mucosa. The patient was diagnosed with PAMS based on computed tomography scans and histological analyses of the lesions. The lymphoid hyperplasia in the retroperitoneum and lesions in the vaginal mucosa and trunk area were improved following pharmacological treatment and resection of the lymph node showing hyperplasia. However, the oral lesion was treated with intraluminal brachytherapy due to its resistance to long-term pharmacological treatment. The majority of the lesions were improved following treatment, in the absence of any severe side effects. In addition, neither worsening nor progression of the oral lesion was observed during the 4-year follow-up period.

  15. [Goodpasture syndrome: role of an epidemiological factor? Apropos of two cases].

    Science.gov (United States)

    Molinier, S; Bonnet, D; Moulin, B; Mianne, D; Martet, G; Touze, J E; Olmer, M; de Muizon, H

    1995-01-01

    Goodpasture's syndrome is a rare pneumorenal syndrome. Although the antigenic target of this auto-immune disorder is now known, its etiology remains debated. We report two cases of Goodpasture's syndrome occurring in similar epidemiologic conditions concerning the moment the disease began, the age and sex of the patients, their place of residence and work and manipulation of chemicals. Thus, a common environmental factor could have been the trigger event of the Goodpasture's syndrome. The epidemiologic features of this disease are reviewed.

  16. Autoimmune thyroiditis perdating the presentation of systemic lupus erythematosus: Two cases and a review of literature

    Directory of Open Access Journals (Sweden)

    Dhir Rajeev

    2002-01-01

    Full Text Available Autoimmune diseases are commonly encountered in dermatology practice. While the association of two autoimmune diseases in the same individual is not unknown, it is relatively rare for the second disease to be suspected based on cutaneous manifestations. We present two such cases wherein cutaneous manifestations were the first clue to the development of lupus erythematosus in a setting of autoimmune thyroiditis. Further, we have reviewed literature on this uncommon occurrence and discuss various aspects of this association.

  17. A Case of Autoimmune Hemolytic Anemia Associated with an Ovarian Teratoma

    OpenAIRE

    Kim, Ickkeun; Lee, Jue Yong; Kwon, Jung Hye; Jung, Joo Young; Song, Hun Ho; Park, Young lee; Ro, Eusun; Choi, Kyung Chan

    2006-01-01

    Autoimmune hemolytic anemia associated with an ovarian teratoma is a very rare disease. However, treating teratoma is the only method to cure the hemolytic anemia, so it is necessary to include ovarian teratoma in the differential diagnosis of autoimmune hemolytic anemia. We report herein on a case of a young adult patient who had severe autoimmune hemolytic anemia that was induced by an ovarian teratoma. A 25-yr-old woman complained of general weakness and dizziness for 1 week. The hemoglobi...

  18. Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease in girls and women with Turner syndrome

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    Kämpe Olle

    2007-12-01

    Full Text Available Abstract Background A disturbance in the immune system has been described in Turner syndrome (45,X, with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45,X, thyroiditis being the most common. Other autoimmune diseases seen are inflammatory bowel disease, insulin dependent diabetes mellitus, Addison's disease, rheumatoid arthritis, myasthenia gravis, vitiligo, alopecia, pernicious anaemia and hypoparathyroidism, but the association to Turner syndrome is not definite. Besides the typical features of Turner syndrome (short stature, failure to enter puberty spontaneously and infertility due to ovarian insufficiency ear problems are common. Otitis media and a progressive sensorineural hearing disorder are commonly seen. In the normal population there are known inner ear disorders related to autoimmune diseases. The aim of this study was to investigate patients with Turner syndrome regarding autoantibodies connected to the autoimmune disorders; autoimmune polyendocrine syndrome type I and II and Addison's disease, to screen for overlapping profile of autoantibodies. Blood samples from 110 Turner patients (7–65 years were investigated using in vitro transcription, translation and immunoprecipitation techniques regarding autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease (21-hydroxylase, 17α-hydroxylase, side-chain cleavage enzyme, aromatic L-amino acid decarboxylase, tyrosine hydroxylase and tryptophan hydroxylase. Results The autoantibodies investigated were not overrepresented among the Turner patients. Conclusion The autoimmune disorders associated with Turner syndrome do not seem to be of the same origin as Addison's disease, the type I or II autoimmune polyendocrine syndrome.

  19. Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease in girls and women with Turner syndrome

    Science.gov (United States)

    Stenberg, Annika E; Sylvén, Lisskulla; Hedstrand, Håkan; Kämpe, Olle; Hultcrantz, Malou

    2007-01-01

    Background A disturbance in the immune system has been described in Turner syndrome (45,X), with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45,X), thyroiditis being the most common. Other autoimmune diseases seen are inflammatory bowel disease, insulin dependent diabetes mellitus, Addison's disease, rheumatoid arthritis, myasthenia gravis, vitiligo, alopecia, pernicious anaemia and hypoparathyroidism, but the association to Turner syndrome is not definite. Besides the typical features of Turner syndrome (short stature, failure to enter puberty spontaneously and infertility due to ovarian insufficiency) ear problems are common. Otitis media and a progressive sensorineural hearing disorder are commonly seen. In the normal population there are known inner ear disorders related to autoimmune diseases. The aim of this study was to investigate patients with Turner syndrome regarding autoantibodies connected to the autoimmune disorders; autoimmune polyendocrine syndrome type I and II and Addison's disease, to screen for overlapping profile of autoantibodies. Blood samples from 110 Turner patients (7–65 years) were investigated using in vitro transcription, translation and immunoprecipitation techniques regarding autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease (21-hydroxylase, 17α-hydroxylase, side-chain cleavage enzyme, aromatic L-amino acid decarboxylase, tyrosine hydroxylase and tryptophan hydroxylase). Results The autoantibodies investigated were not overrepresented among the Turner patients. Conclusion The autoimmune disorders associated with Turner syndrome do not seem to be of the same origin as Addison's disease, the type I or II autoimmune polyendocrine syndrome. PMID:18088406

  20. Comorbid autoimmune diseases in patients with sarcoidosis: A nationwide case-control study in Taiwan.

    Science.gov (United States)

    Wu, Chi-Hung; Chung, Pei-I; Wu, Chen-Yi; Chen, Yen-Ta; Chiu, Yun-Wen; Chang, Yun-Ting; Liu, Han-Nan

    2017-04-01

    The association between sarcoidosis and autoimmune comorbidities has been reported, however, it has seldom been confirmed by a large nationwide study. Our study aimed to clarify the association between sarcoidosis and autoimmune comorbidities in the Taiwanese. A total of 1237 patients with sarcoidosis and 4948 age- and sex-matched control subjects were selected from the National Health Insurance Research Database of Taiwan from 1997 to 2010. Multiple logistic regressions were performed to calculate the odds of comorbidities between the two groups. The prevalence of sarcoidosis was 2.17/100 000 individuals in Taiwan. Sarcoidosis patients tended to run a higher risk of autoimmune comorbidities than the control group (17.6% vs 9.4%, P sarcoidosis. The sex-stratified analyses were carried out to demonstrate a significant association of sarcoidosis with ankylosing spondylitis in both sexes, but with autoimmune thyroid disease in male patients and with Sjögren's syndrome female patients, respectively. Besides, the diagnosis of the autoimmune comorbidities strongly associated with sarcoidosis tended to be established after that of sarcoidosis. This study demonstrated that patients with sarcoidosis tended to have autoimmune thyroid disease, Sjögren's syndrome and ankylosing spondylitis, and the diagnosis of sarcoidosis usually preceded that of associated comorbidities. Clinicians should be alert to autoimmune comorbidities in patients with sarcoidosis. © 2016 Japanese Dermatological Association.

  1. Latent Autoimmune Diabetes in Adults: a case report.

    Science.gov (United States)

    Bermúdez, Valmore; Aparicio, Daniel; Colmenares, Carlos; Peñaranda, Lianny; Luti, Yettana; Gotera, Daniela; Rojas, Joselyn; Cabrera, Mayela; Reyna, Nadia; Velasco, Manuel; Israili, Zafar H

    2010-01-01

    Latent Autoimmune Diabetes in Adults (LADA) is an autoimmune endocrine disorder in which despite the presence of antipancreatic islets antibodies in the moment of diagnostics, the progression to beta-cell secretory insufficiency is slow. It is often confused with others types of diabetes and therefore the management is frequently inadequate. We report a clinical case of a 23-year-old man with diagnosis of type 2 diabetes since 6 months ago, poorly controlled with a sulfonylurea, who initially presented 2 months ago from polyuria, polydipsia, and asthenia and 6 kg weight loss. History of past illness was negative, however, his mother relates exclusive breastfeeding during the first 15 days of life and later (until the 6 months) he was fed with infant formula (S-26). Family history revealed a first-degree relative (father) with diabetes mellitus secondary to steroid administration due to diagnosis of bone marrow hypoplasia. Also presents second-degree family history (uncle and grandfather) of type 2 diabetes mellitus. There were no pathologic findings at the physical examination. Anthropometry and laboratory tests were as follows: body mass index (BMI) = 19.66 kg/m, basal and postprandial glycemia = 108, and 276 mg/dL respectively, glycated haemoglobin = 8.9%, basal and postprandial C-peptide (2 hours) = 1.9, and 3.2 ng/mL, homeostasis model assessment of beta cell function: 87.5%, homeostasis model assessment of insulin resistance: 1.6. LADA presumptive diagnosis was confirmed with presence of autoantibodies anti-tyrosin-phosphatase and GAD65. At the time of diagnosis, individuals with LADA present an onset age <50, BMI <25 kg/m2, low magnitude postprandial and basal hyperglycemia, normal or close to normal C-peptide values, and thus not occur with acute hyperglycemic crises. Insulin therapy preserves pancreatic b-cell function, at the point that eventually prescribed insulin doses need to be reduced.

  2. Clinical Features and Treatment Outcomes of Childhood Autoimmune Hemolytic Anemia: A Retrospective Analysis of 68 Cases.

    Science.gov (United States)

    Fan, Junjie; He, Hailong; Zhao, Wenli; Wang, Yi; Lu, Jun; Li, Jie; Li, Jianqin; Xiao, Peifang; Lu, Ye; Chai, Yihuan; Hu, Shaoyan

    2016-03-01

    Autoimmune hemolytic anemia (AIHA) is a rare disease in children, and its clinical severity varies. To better understand disease manifestation and treatment outcome, we analyzed 68 children diagnosed as AIHA for clinical characteristics, laboratory findings, and treatment outcomes. Data show that primary AIHA accounted for 39.7% of all patients, whereas secondary AIHA accounted for 60.3%. Among them, Evans syndrome (ES) accounted for 20 cases (29.4%). Average hemoglobin was lower in the 1-year or below age group than in the above 1-year age group, combined-antibody group than single-antibody group, and IgM-contained group than non-IgM-contained group (Panemia correlates with age and serologic types of direct antiglobulin test. Glucocorticoid is efficacious for AIHA regardless of whether it is a first attack or relapse in this cohort of young patients. ES needs longer treatment duration. IVIG does not improve the outcome of AIHA.

  3. Immunotherapy Responsive Autoimmune Subacute Encephalitis: A Report of Two Cases

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    Manoj Mittal

    2010-01-01

    Full Text Available Objective. To describe the clinical characteristics and radiological findings in two patients with subacute encephalitis associated with elevated serum voltage-gated potassium channel antibody (VGKCAb and antithyroperoxidase (TPO antibody. Case Reports. Case 1: 63-year-old woman was admitted for altered mental status and possible seizure activity. MRI brain showed hyperintensity in the bilateral hippocampal areas. She was positive for VGKCAb and anti-TPO antibodies. She was treated with steroids, IVIG, plasma exchange and azathioprine. After 8 months, she had marked improvement in her memory and seizures. Case 2: 61-year-old woman was admitted for video EEG monitoring of unclassified seizure and cognitive function decline. MRI of the brain showed mild hyperintensity in bilateral hippocampal areas and significant atrophy in the frontotemporal lesion. Anti-TPO antibody and VGKCAb were positive. She was treated with steroids, plasma exchange and azathioprine. After 9 months, she had marked improvement in her memory and seizures. Conclusion. Autoimmune subacute encephalitis appears to be an underdiagnosed entity. It is important to screen patients with subacute encephalitis for anti-TPO antibody and VGKCAb, particularly in the presence of seizures. Immunosuppressive therapy appears to be effective in treating this entity.

  4. Primary sclerosing cholangitis, autoimmune hepatitis and overlap syndromes in inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    Rebecca Saich; Roger Chapman

    2008-01-01

    Primary sclerosing cholangitis (PSC) is a chronic progressive disorder of unknown aetiology characterised by chronic inflammation and stricture formation of the biliary tree. Symptoms include itch and lethargy and in advanced cases cholangitis and end-stage liver disease, however increasing numbers of asymptomatic individuals are being identified. The disease is rare in the general population but is strongly associated with inflammatory bowel disease (IBD) affecting up to 5% of patients with Ulcerative Colitis, with a slightly lower prevalence (up to 3.6%) in Crohns disease. The strength of this association means that the vast majority (> 90%) of patients with PSC also have IBD, although many may have only mild gastro-intestinal symptoms. Usually IBD presents before PSC, although vice-versa can occur and the onset of both conditions can be separated in some cases by many years. Mean age of diagnosis of PSC is in the fifth decade of life with a strong male predominance.Risk is increased in those with a family history of PSC, suggesting a genetic predisposition and the disease is almost exclusive to non-smokers. The ulcerative colitis associated with PSC is characteristically mild, runs a quiescent course, is associated with rectal sparing, more severe right sided disease, backwash ilieitis and has a high risk of pouchiUs post-colectomy. Most worrisome is the high risk of colorectal malignancy which necessitates routine colonoscopic surveillance. Cholangiocarcinoma is also a frequent complication of PSC with a 10%-15% lifetime risk of developing this condition. Treatment with high dose ursodeoxycholic acid offers some chemoprotective effects against colorectal malignancy and may decrease symptoms, biochemical and histological progression of liver disease. Small duct PSC patients characteristically have normal cholangiography, and liver biopsy is required for diagnosis, it appears to have a more favourable prognosis. Autoimmune Hepatitis (AIH) is also more prevalent

  5. A CASE OF STROKE IN YOUNG ADULT SECONDARY TO ANTIPHOSPHOLIPID ANTIBODY SYNDROME

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    Aravinda

    2013-10-01

    Full Text Available Anti phospholipid antibody syndrome is autoantibody - mediated acquired thromb ophilia characterized by recurrent arterial or venous thrombosis. It may occur alone (Primary or associated with other autoimmune disorders ( secondary. We report a case of ischemic stroke in a young individual caused by anti phospholipid antibody syndrom e

  6. Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.

    Science.gov (United States)

    Magerus-Chatinet, Aude; Neven, Bénédicte; Stolzenberg, Marie-Claude; Daussy, Cécile; Arkwright, Peter D; Lanzarotti, Nina; Schaffner, Catherine; Cluet-Dennetiere, Sophie; Haerynck, Filomeen; Michel, Gérard; Bole-Feysot, Christine; Zarhrate, Mohammed; Radford-Weiss, Isabelle; Romana, Serge P; Picard, Capucine; Fischer, Alain; Rieux-Laucat, Frédéric

    2011-01-01

    Autoimmune diseases develop in approximately 5% of humans. They can arise when self-tolerance checkpoints of the immune system are bypassed as a consequence of inherited mutations of key genes involved in lymphocyte activation, survival, or death. For example, autoimmune lymphoproliferative syndrome (ALPS) results from defects in self-tolerance checkpoints as a consequence of mutations in the death receptor-encoding gene TNF receptor superfamily, member 6 (TNFRSF6; also known as FAS). However, some mutation carriers remain asymptomatic throughout life. We have now demonstrated in 7 ALPS patients that the disease develops as a consequence of an inherited TNFRSF6 heterozygous mutation combined with a somatic genetic event in the second TNFRSF6 allele. Analysis of the patients' CD4(-)CD8(-) (double negative) T cells--accumulation of which is a hallmark of ALPS--revealed that in these cells, 3 patients had somatic mutations in their second TNFRSF6 allele, while 4 patients had loss of heterozygosity by telomeric uniparental disomy of chromosome 10. This observation provides the molecular bases of a nonmalignant autoimmune disease development in humans and may shed light on the mechanism underlying the occurrence of other autoimmune diseases.

  7. Genetic and immunologic aspects of autoimmune poliendocrine syndrome type I: review

    Directory of Open Access Journals (Sweden)

    Alice Rachel Bandeira de Araújo

    2016-10-01

    Full Text Available The autoimmune polyendocrinopathy syndrome type 1 (APS-1, also known as candidiasis ectodermal-autoimmune polyendocrinopathy-dystrophy (APECED, it is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE. Therefore, it is immunologically characterized by cell attack and / or antibodymediated generating the destruction of target organs. Furthermore, it is characterized by the pathognomonic triad chronic candidiasis, hypoparathyroidism and Addison's disease with many other endocrine and non-endocrine events. Soon, the diagnosis is made based on the presence of two of the three classic features and treatment aims to control the numerous deficiencies that patients may present. This literature review was aimed at understanding the involvement of AIRE gene in relation to immunological aspects present and, consequently, clinical manifestations of this disease. Thus, evidence of the need to broaden the discussion about this disease, in order to improve the quality of life of patients by early diagnosis and treatment and are in accordance with the clinical manifestations of each patient. Thereby, qualitative research involved scientific articles from electronic journals LILACS (Latin American and Caribbean, SCIELO (Scientific Electronic Library Online and NCBI (National Center for Biotechnology Information, between the years 2009 and 2016. Pursuant to, there is the relevance of this review, it is noted that, although the authors converge on views on this syndrome, there are still many unclear matters with regard to the mechanisms of the disease. This highlights the need to promote more discussion on this topic.

  8. [A case of steroid resistant autoimmune hemolytic anemia in ulcerative colitis].

    Science.gov (United States)

    Choi, Hyun Jong; Hong, Su Jin; Kim, Young Jee; Ko, Bong Min; Lee, Moon Sung; Shim, Chan Sup; Kim, Hyun Jung; Hong, Dae Sik

    2008-02-01

    Autoimmunity is thought to play a central role in the pathogenesis of inflammatory bowel disease and associated extraintestinal manifestations. Autoimmune hemolytic anemia associated with ulcerative colitis is a rare occurrence. No more than 50 cases have been described in the international literatures, and only 2 cases reported in Korea. A 29-year-old woman who was diagnosed as ulcerative colitis two years ago was complicated with autoimmune hemolytic anemia, and did not respond to steroid therapy. Ultimately, total colectomy and splenectomy were carried out for the treatment of ulcerative colitis and hemolytic anemia. After the operation, anemia was resolved. We present the case with a review of literature.

  9. Autoimmune rheumatic diseases and Klinefelter syndrome Autoimunitné reumatické choroby a Klinefelterov syndróm

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    Lazúrová I.

    2016-12-01

    Full Text Available The article summarizes data on the association of Klinefelter syndrome (KS with autoimmune rheumatic diseases, that is rheumatoid arthritis (RA, systemic lupus erythematosus (SLE, polymyositis/dermatomyositis, systemic sclerosis (SSc, mixed connective tissue diseases (MCTD, Sjogren’s syndrome and antiphospholipid syndrome (APS. Recently, a higher risk for RA, SLE and Sjogren’s syndrome in patients with KS has been clearly demonstrated. However, the association of other autoimmune rheumatic disorders such as dermatomyositis/polymyositis, SSc, MCTD and APS is reported only casually. Based on the hormonal changes in KS, there are suggestions that low androgen and higher estrogen levels might be a predisposing factor for the development of autoimmune diseases, but evidence for the association is poor. Epidemiologic studies on larger cohorts of patients are required.

  10. 自身免疫重叠综合征%Autoimmune overlap syndromes

    Institute of Scientific and Technical Information of China (English)

    王宇明; 陈嵩

    2006-01-01

    @@ 临床上有些患者虽表现自身免疫性肝病的特点,但尚未达到自身免疫性肝炎(autoimmune hepatitis,AIH)、原发性胆汁性肝硬化(primary biliary cirrhosis,PBC)或原发性硬化性胆管炎(primary sclerosing cholangitis,PSC)的诊断标准,这类疾病被命名为自身免疫重叠综合征(autoimmune overlap syndromes).另外,有些患者虽不能诊断AIH,但有提示性发现,包括自身免疫性胆管炎和原因不明的慢性肝炎.

  11. Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation.

    Science.gov (United States)

    Revel-Vilk, Shoshana; Fischer, Ute; Keller, Bärbel; Nabhani, Schafiq; Gámez-Díaz, Laura; Rensing-Ehl, Anne; Gombert, Michael; Hönscheid, Andrea; Saleh, Hani; Shaag, Avraham; Borkhardt, Arndt; Grimbacher, Bodo; Warnatz, Klaus; Elpeleg, Orly; Stepensky, Polina

    2015-07-01

    Mutations in LPS-responsive and beige-like anchor (LRBA) gene were recently described in patients with combined immunodeficiency, enteropathy and autoimmune cytopenia. Here, we extend the clinical and immunological phenotypic spectrum of LRBA associated disorders by reporting on three patients from two unrelated families who presented with splenomegaly and lymphadenopathy, cytopenia, elevated double negative T cells and raised serum Fas ligand levels resembling autoimmune lymphoproliferative syndrome (ALPS) and one asymptomatic patient. Homozygous loss of function mutations in LRBA were identified by whole exome analysis. Similar to ALPS patients, Fas mediated apoptosis was impaired in LRBA deficient patients, while apoptosis in response to stimuli of the intrinsic mitochondria mediated apoptotic pathway was even enhanced. This manuscript illustrates the phenotypic overlap of other primary immunodeficiencies with ALPS-like disorders and strongly underlines the necessity of genetic diagnosis in order to provide early correct diagnosis and subsequent care. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Sheehan's syndrome: a case report

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    Shazia Ashraf Khan

    2016-09-01

    Full Text Available Sheehans syndrome or necrosis of pituitary gland is a rare complication of postpartum haemorrhage, initially described in 1937. Sheehans syndrome though rare is still one of the commonest causes of hypopituitarism in developing countries like ours. We present a case of young lady with this syndrome who presented with classical symptoms of hypopituitarism within 1 year of her delivery which was complicated by postpartum haemorrhage. [Int J Reprod Contracept Obstet Gynecol 2016; 5(9.000: 3221-3222

  13. Gorlin syndrome: A case report

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    Patil K

    2005-01-01

    Full Text Available Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.

  14. Stiff-person syndrome: insights into a complex autoimmune disorder.

    Science.gov (United States)

    Baizabal-Carvallo, José Fidel; Jankovic, Joseph

    2015-08-01

    Stiff-person syndrome (SPS) is characterised by progressive rigidity and muscle spasms affecting the axial and limb muscles. Since its initial description in 1956, marked progress has been made in the clinical characterisation, understanding of pathogenesis and therapy of this disorder. SPS can be classified according to the clinical presentation into classic SPS and SPS variants: focal or segmental-SPS, jerking-SPS and progressive encephalomyelitis with rigidity and myoclonus. Most patients with SPS have antibodies directed against the glutamic acid decarboxylase, the rate-limiting enzyme for the production of the inhibitory neurotransmitter γ-aminobutyric acid (GABA). Antibodies directed against GABA(A) receptor-associated protein, and the glycine-α1 receptor can also be observed. Paraneoplastic SPS is commonly associated with antiamphiphysin antibodies and breast cancer. Treatment of SPS with drugs that increase the GABAergic tone combined with immunotherapy can improve the neurological manifestations of these patients. The prognosis, however, is unpredictable and spontaneous remissions are unlikely.

  15. The autoimmune disease DEAP-hemolytic uremic syndrome.

    Science.gov (United States)

    Skerka, Christine; Zipfel, Peter F; Müller, Dominik; Micklisch, Sven; Riedl, Magdalena; Zimmerhackl, Lothar-Bernd; Hofer, Johannes

    2010-09-01

    DEAP-HUS (deficiency of CFHR plasma proteins and factor H [FH] autoantibody positive hemolytic uremic syndrome [HUS]) is a new form of HUS characterized by a deletion of genes coding for FH-related proteins and the presence of autoantibodies directed to FH. These disease-associated autoantibodies inhibit FH (CFH) surface binding functions, which results in a defective regulation of the alternative pathway and damage of endothelial cells. Here we describe two representative patients with DEAP-HUS who both developed end-stage renal failure with the background of homozygous deletion of CFHR1 and CFHR3 genes and the presence of FH autoantibodies. Based on the retrospective diagnosis of DEAP-HUS 2 to 12 months after the initial clinical presentation, subsequent immunosuppressive therapy was initiated. The autoantibody titers decreased, and the complement status of the patients improved, as indicated by increased C3 levels. Thus early diagnosis of DEAP-HUS and immunosuppressive treatments are important factors to treat this particular type of HUS.

  16. A unique combination of autoimmune limbic encephalitis, type 1 diabetes, and Stiff person syndrome associated with GAD-65 antibody.

    Science.gov (United States)

    Sharma, Chandra Mohan; Pandey, Rajendra Kumar; Kumawat, Banshi Lal; Khandelwal, Dinesh; Gandhi, Pankaj

    2016-01-01

    Antibodies to GAD-65 have been implicated in the pathogenesis of type 1 diabetes, limbic encephalitis and Stiff person syndrome, however these diseases rarely occur concurrently. We intend to present a rare case of 35 year old female who was recently diagnosed as having type 1 diabetes presented with 1½ month history of recurrent seizures, subacute onset gait ataxia, dysathria, psychiatric disturbance and cognitive decline. No tumor was found on imaging and the classic paraneoplastic panel was negative. Cerebrospinal fluid and blood was positive for GAD-65 antibodies. Patient showed significant improvement with immunomodulatory therapy. Association of GAD-65 antibodies has been found with various disorders including type 1 diabetes, limbic encephalitis, Stiff person syndrome, cerebellar ataxia and palatal myoclonus. This case presents with unique combination of type 1 diabetes, Stiff person syndrome and limbic encephalitis associated with GAD-65 antibodies that is responsive to immunotherapy. It also highlights the emerging concept of autoimmunity in the causation of various disorders and there associations.

  17. Gorlin syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Abbas Darjani

    2016-01-01

    Full Text Available Gorlin syndrome is a rare autosomal dominant disorder which characterize by multi-organ abnormities such as odontogenic keratocysts in the jaw, skeletal abnormities and multiple basal cell carcinoma etc. We report a case of this syndrome in a young man with palmar pits, multiple facial BCC, clacifications of the falx cerebri and bifid rib.

  18. Subclinical Sjögren's syndrome and anti-Ro/SSA-positive autoimmune fatigue syndrome in children.

    Science.gov (United States)

    Itoh, Y; Imai, T; Fujino, O; Igarashi, T; Fukunaga, Y

    2002-09-01

    Abstract Although Sjögren's syndrome (SS) is quite rare among children, subclinical conditions without any sicca symptoms have been reported. This condition is characterized by nonspecific rheumatic symptoms and histopathological findings in salivary glands which are equivalent to SS. Many children with subclinical SS are positive for anti-Ro/SSA. On the other hand, autoimmune fatigue syndrome (AIFS) is characterized by chronic nonspecific complaints and positive antinuclear antibodies, with or without fulfilling the criteria for chronic fatigue syndrome. Although a novel autoantibody against a 62 kD nuclear protein (anti-Sa) is detected in about 40% of AIFS patients, few marker antibodies for autoimmune diseases, such as anti-DNA, anti-Sm, anti-U1-ribonucleoprotein (RNP), or anticardiolipin, are found in AIFS patients. In this study, however, anti-Ro/SSA was detected in sera from 8 out of 122 AIFS patients. Seven of the 8 anti-Ro/SSA-positive patients were female. All 8 patients had fatigue and low-grade fever, but none complained of xerosis. Western immunoblot analysis revealed that 7 sera reacted with Ro52, and that none was positive for anti-La/SSB or anti-Sa. Two of the 8 patients had histories of recurrent parotitis. Lip biopsies showed mild chronic inflammation compatible with subclinical SS in these 2 patients, although the other 6 patients had no abnormal histopathology. Thus, at least some anti-Ro/SSA-positive patients could be diagnosed as having SS.

  19. Joubert Syndrome: A Case Report

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    Mürüvet Akın

    2012-10-01

    Full Text Available Joubert Syndrome is a rare autosomal recessive disorder characterized with hypotonia, ataxia, mental and motor retardation, episodic tachypnea-apnea and oculomotor anomalies. Prognosis is poor in patients with hypotonia and severe growth retardation. Its characteristic imaging finding is hypoplasia of cerebellar vermis and ‘molar tooth sign’ in brainstem. Dandy-Walker formation and Down Syndrome take part in differential diagnosis. Clinical findings of Joubert Syndrome are quite heterogenous. Thus determination of radiological findings is essential. In this paper, a case who applied to our clinic with complaint of headache and who had mild mental-motor retardation and diagnosed as Joubert Syndrome radiologically was presented.

  20. A case of Klinefelter's syndrome with type 1 diabetes mellitus

    Institute of Scientific and Technical Information of China (English)

    CAI Xiao-pin; ZHAO Li; MAO Min; YANG Zhao-jun; XING Xiao-yan; LI Guang-wei

    2012-01-01

    Klinefelter's syndrome (KS) is the most common sex chromosome disease in men.Classical features of the syndrome include a eunuchoidal body habitus,small testes and hypergonadotrophic hypogonadism.There has been an increased risk of diabetes mellitus and autoimmune disease for KS patients.This paper reports a case of KS in association with type 1 diabetes mellitus.The patient was a 21-year-old man,who has been confirmed by absolute insulin deficiency and positive IA-2 autoantibody.The hyperinsulinemic euglycemic clamp test indicated his insulin sensitivity in normal range,and his blood glucose was controlled well by the insulin therapy.

  1. Concurrent reactive arthritis, Graves' disease, and warm autoimmune hemolytic anemia: a case report.

    Science.gov (United States)

    Chiang, Elizabeth; Packer, Clifford D

    2009-08-13

    Warm antibody autoimmune hemolytic anemia is due to the presence of warm agglutinins that react with protein antigens on the surface of red blood cells causing premature destruction of circulating red blood cells. We report the first case of concurrent reactive arthritis, Graves' disease, and autoimmune hemolytic anemia. A 40-year-old man with reactive arthritis, Graves' disease, type 2 diabetes mellitus, mitral valve prolapse, and Gilbert's disease presented with a one month history of jaundice, fatigue, and black stools. After diagnosis of warm autoimmune hemolytic anemia, the patient was started on prednisone 1 mg/kg with rapid improvement in his anemia and jaundice. Our subject's mother and possibly his maternal grandmother also had autoimmune hemolytic anemia, which raises the possibility of hereditary autoimmune hemolytic anemia, a rarely reported condition.

  2. Severe autoimmune hemolytic anemia with renal neoplasm.

    Science.gov (United States)

    Rhodes, Emily C; Parikh, Sahil P; Bhattacharyya, Nishith

    2014-02-01

    Autoimmune hemolytic anemia is a type of hemolytic anemia characterized by autoantibodies directed against red blood cells shortening their survival. When autoimmune hemolytic anemia is secondary to a paraneoplastic process, severe anemia can occur leading to significant morbidity and even mortality. Here we discuss the literature and present the case of a child with autoimmune hemolytic anemia from a paraneoplastic syndrome secondary to a renal tumor.

  3. Waardenburg Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Hayrullah Alp

    2010-12-01

    Full Text Available Introduction: Auditory-pigmentary syndromes are a group of diseases that effect the skin, hair, eyes and the cochlea. Waardenburg syndrome is one of the members of these autosomal dominantly inherited diseases. Waardenburg syndrome is characterized by white forelock, congenital sensorineural hearing loss, hypopigmented skin and anomalies of the intraocular tissues. How ever all these diagnostic features may not be seen in all patient. In addition, there are four subtypes of the syndrome in each of which the genetic and clinical findings are different. Case Report: In this article, a-3-year old boy with Waardenburg syndrome Type 1 was described. Also, in some of the family members the same disease was diagnosed. Conclusion: Waardenburg syndrome should be evaluated in the patients with congenital sensorineural hearing loss accompanied with the clinical findings. (Journal of Current Pediatrics 2010; 8: 123-6

  4. Rare case of nephrotic syndrome: Schimke syndrome.

    Science.gov (United States)

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

    2016-01-01

    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  5. Sick sinus syndrome associated with hypopituitarism: a case report and literature review

    Science.gov (United States)

    Zhao, Dongsheng; Zhang, Qing; Lu, Jingping; Zhang, Gang; Lu, Huihe; Huang, Jianfei; Shan, Qijun

    2014-01-01

    Abstract Though an association between autoimmune diseases and sick sinus syndrome has been reported, there has been no report on the association of hypopituitarism and sick sinus syndrome. Herein, we provide the first case report of hypopituitarism accompanying sick sinus syndrome in a 51-year-old woman presented to our hospital with syncope due to cardiac arrest. The patient was successfully managed by pacemaker installation and hormone replacement therapy. PMID:25332716

  6. Carpenter syndrome: a case report.

    Science.gov (United States)

    Begum, S; Khatun, N; Rayhan, S M; Rahman, S A

    2012-07-01

    Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, facial dysmorphism, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, congenital heart disease, cryptorchidism, hypogenitalism, bony abnormalities and umbilical hernia. Carpenter syndrome is autosomal recessive disorder and prenatal diagnosis of this syndrome is possible by ultrasonogram during pregnancy. We reported a case of carpenter syndrome of 2.5 months old female infant of consanguineous parents who was admitted in the paediatric ward of Bangabandhu Sheikh Mujib Medical University (BSMMU) on 30th March 2010. She was diagnosed as a case of Carpenter syndrome having acrocephaly prominent ridge of sagital suture, polydactyly, syndyctyly on history, clinical examination findings and investigation reports.

  7. Primary Sjögren′s syndrome without ocular involvement: A rare case report

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    Tushar Phulambrikar

    2014-01-01

    Full Text Available Sjögren′s Syndrome (SS is a chronic systemic autoimmune disorder, characterized by the lymphocytic infiltration of lacrimal and salivary glands, giving rise to dry eyes (keratoconjunctivitis sicca and dry mouth (xerostomia. Primary Sjögren′s Syndrome commonly presents only with sicca manifestations; whereas, secondary Sjögren′s syndrome occurs in connection with other autoimmune rheumatic diseases. Primary Sjögren′s syndrome without ocular manifestation is rarely reported in the literature. Here we report a case of a 45-year-old female, who presented to us with complaints of dryness of mouth and dysphagia, without any ocular and systemic manifestations. On further evaluation she was diagnosed as a case of Primary Sjögren′s syndrome. With this case report, we intend to emphasize the importance of an early diagnosis of this disorder, along with a brief review of various diagnostic criteria.

  8. Vaccines, adjuvants and autoimmunity.

    Science.gov (United States)

    Guimarães, Luísa Eça; Baker, Britain; Perricone, Carlo; Shoenfeld, Yehuda

    2015-10-01

    Vaccines and autoimmunity are linked fields. Vaccine efficacy is based on whether host immune response against an antigen can elicit a memory T-cell response over time. Although the described side effects thus far have been mostly transient and acute, vaccines are able to elicit the immune system towards an autoimmune reaction. The diagnosis of a definite autoimmune disease and the occurrence of fatal outcome post-vaccination have been less frequently reported. Since vaccines are given to previously healthy hosts, who may have never developed the disease had they not been immunized, adverse events should be carefully accessed and evaluated even if they represent a limited number of occurrences. In this review of the literature, there is evidence of vaccine-induced autoimmunity and adjuvant-induced autoimmunity in both experimental models as well as human patients. Adjuvants and infectious agents may exert their immune-enhancing effects through various functional activities, encompassed by the adjuvant effect. These mechanisms are shared by different conditions triggered by adjuvants leading to the autoimmune/inflammatory syndrome induced by adjuvants (ASIA syndrome). In conclusion, there are several case reports of autoimmune diseases following vaccines, however, due to the limited number of cases, the different classifications of symptoms and the long latency period of the diseases, every attempt for an epidemiological study has so far failed to deliver a connection. Despite this, efforts to unveil the connection between the triggering of the immune system by adjuvants and the development of autoimmune conditions should be undertaken. Vaccinomics is a field that may bring to light novel customized, personalized treatment approaches in the future. Copyright © 2015 Elsevier Ltd. All rights reserved.

  9. Insulin gene polymorphisms in type 1 diabetes, Addison's disease and the polyglandular autoimmune syndrome type II

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    Hahner Stefanie

    2008-07-01

    Full Text Available Abstract Background Polymorphisms within the insulin gene can influence insulin expression in the pancreas and especially in the thymus, where self-antigens are processed, shaping the T cell repertoire into selftolerance, a process that protects from β-cell autoimmunity. Methods We investigated the role of the -2221Msp(C/T and -23HphI(A/T polymorphisms within the insulin gene in patients with a monoglandular autoimmune endocrine disease [patients with isolated type 1 diabetes (T1D, n = 317, Addison's disease (AD, n = 107 or Hashimoto's thyroiditis (HT, n = 61], those with a polyglandular autoimmune syndrome type II (combination of T1D and/or AD with HT or GD, n = 62 as well as in healthy controls (HC, n = 275. Results T1D patients carried significantly more often the homozygous genotype "CC" -2221Msp(C/T and "AA" -23HphI(A/T polymorphisms than the HC (78.5% vs. 66.2%, p = 0.0027 and 75.4% vs. 52.4%, p = 3.7 × 10-8, respectively. The distribution of insulin gene polymorphisms did not show significant differences between patients with AD, HT, or APS-II and HC. Conclusion We demonstrate that the allele "C" of the -2221Msp(C/T and "A" -23HphI(A/T insulin gene polymorphisms confer susceptibility to T1D but not to isolated AD, HT or as a part of the APS-II.

  10. Vincristine for refractory autoimmune thrombocytopenic purpura in pregnancy. A case report.

    Science.gov (United States)

    Gross, Z; Rodriguez, J J; Stalnaker, B L

    1995-10-01

    Autoimmune thrombocytopenic purpura is a common disease during pregnancy. Newborns of affected mothers commonly develop thrombocytopenia. Standard therapy consists of corticosteroids, hyperimmune gamma globulin and splenectomy. Severe autoimmune thrombocytopenic purpura was diagnosed in a 22-year-old woman, gravida 2, para 1, at 28 weeks' gestation. A sufficient response was obtained after vincristine was added to the treatment with corticosteroids, hyperimmune gamma globulin and danazole. A male infant weighing 2,545 g was delivered by cesarean section at 33.5 weeks' gestation. There were no maternal or fetal complications except for severe newborn thrombocytopenia, which resolved with medical therapy. Vincristine has been used in all trimesters of pregnancy, with favorable outcomes in most cases. This is the first reported case of successful vincristine treatment for autoimmune thrombocytopenic purpura in pregnancy. Vincristine, when carefully used, offers an option for unusually refractory cases of autoimmune thrombocytopenic purpura before delivery.

  11. LADA type diabetes, celiac diasease, cerebellar ataxia and stiff person syndrome. A rare association of autoimmune disorders.

    Science.gov (United States)

    Soós, Zsuzsanna; Salamon, Mónika; Erdei, Katalin; Kaszás, Nóra; Folyovich, András; Szücs, Anna; Barcs, Gábor; Arányi, Zsuzsanna; Skaliczkis, József; Vadasdi, Károly; Winkler, Gábor

    2014-05-30

    Celiac disease--in its typical form--is a chronic immune-mediated enteropathy with typical clinical symptoms that develops against gliadin content of cereal grains, and is often associated with other autoimmune diseases. In cases of atypical manifestation classic symptoms may be absent or mild, and extra-intestinal symptoms or associated syndromes dominate clinical picture. The authors present a longitudinal follow-up of such a case. A 63-years old woman was diagnosed with epilepsy at the age of 19, and with progressive limb ataxia at the age of 36, which was initially thought to be caused by cerebellar atrophy, later probably by stiff person syndrome. At the age 59, her diabetes mellitus manifested with type 2 diabetic phenotype, but based on GAD positivity later was reclassified as type 1 diabetes. Only the last check-up discovered the celiac disease, retrospectively explaining the entire disease course and neurological symptoms. By presenting this case, the authors would like to draw attention to the fact that one should think of the possibility of celiac disease when cerebellar ataxia, progressive neurological symptoms and diabetes are present at the same time. An early diagnosis may help to delay the progression of disease and help better treatment.

  12. Concurrent reactive arthritis, Graves’ disease, and warm autoimmune hemolytic anemia: a case report

    OpenAIRE

    Chiang, Elizabeth; Packer, Clifford D

    2009-01-01

    Warm antibody autoimmune hemolytic anemia is due to the presence of warm agglutinins that react with protein antigens on the surface of red blood cells causing premature destruction of circulating red blood cells. We report the first case of concurrent reactive arthritis, Graves’ disease, and autoimmune hemolytic anemia. A 40-year-old man with reactive arthritis, Graves’ disease, type 2 diabetes mellitus, mitral valve prolapse, and Gilbert’s disease presented with a one month history of jaund...

  13. A case of autoimmune hypoglycemia outside Japan: Rare, but in the era of expanding drug-list, important to suspect

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    Krishan Gopal

    2013-01-01

    Full Text Available We are hereby reporting a case of a 72-year-old Indian man, who, in the absence of a detectable tumor, presented with symptomatic hypoglycemia in the postabsorptive state (3-5 h after meal. His serum levels of insulin and C-peptide were very high. He was not taking any hypoglycemic drug. Hypoglycemic episodes completely subsided after withdrawal of pentoprazole and incorporation of small frequent meals in the dietary plan. Six months after the initial presentation, the subject became free of hypoglycemic episodes. Although insulin autoimmune syndrome (IAS is the third leading cause of spontaneous hypoglycemia in Japan, it is extremely uncommon in the Western Countries. Till 2009, more than 200 cases from Japan and as many as 58 cases outside Asia have been reported. To the best of our knowledge, this is the first case of IAS reported from India.

  14. Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens.

    Science.gov (United States)

    Giménez-Barcons, Mireia; Casteràs, Anna; Armengol, Maria del Pilar; Porta, Eduard; Correa, Paula A; Marín, Ana; Pujol-Borrell, Ricardo; Colobran, Roger

    2014-10-15

    Down syndrome (DS), or trisomy of chromosome 21, is the most common genetic disorder associated with autoimmune diseases. Autoimmune regulator protein (AIRE), a transcription factor located on chromosome 21, plays a crucial role in autoimmunity by regulating promiscuous gene expression (pGE). To investigate if autoimmunity in DS is promoted by the reduction of pGE owing to dysregulation of AIRE, we assessed the expression of AIRE and of several peripheral tissue-restricted Ag genes by quantitative PCR in thymus samples from 19 DS subjects and 21 euploid controls. Strikingly, despite the 21 trisomy, AIRE expression was significantly reduced by 2-fold in DS thymuses compared with controls, which was also confirmed by fluorescent microscopy. Allele-specific quantification of intrathymic AIRE showed that despite its lower expression, the three copies are expressed. More importantly, decreased expression of AIRE was accompanied by a reduction of pGE because expression of tissue-restricted Ags, CHRNA1, GAD1, PLP1, KLK3, SAG, TG, and TSHR, was reduced. Of interest, thyroid dysfunction (10 cases of hypothyroidism and 1 of Graves disease) developed in 11 of 19 (57.9%) of the DS individuals and in none of the 21 controls. The thymuses of these DS individuals contained significantly lower levels of AIRE and thyroglobulin, to which tolerance is typically lost in autoimmune thyroiditis leading to hypothyroidism. Our findings provide strong evidence for the fundamental role of AIRE and pGE, namely, central tolerance, in the predisposition to autoimmunity of DS individuals. Copyright © 2014 by The American Association of Immunologists, Inc.

  15. Reactive oxygen species expose cryptic epitopes associated with autoimmune goodpasture syndrome.

    Science.gov (United States)

    Kalluri, R; Cantley, L G; Kerjaschki, D; Neilson, E G

    2000-06-30

    Goodpasture syndrome is an autoimmune disease of the kidneys and lungs mediated by antibodies and T-cells directed to cryptic epitopes hidden within basement membrane hexamers rich in alpha3 non-collagenous globular (NC1) domains of type IV collagen. These epitopes are normally invisible to the immune system, but this privilege can be obviated by chemical modification. Endogenous drivers of immune activation consequent to the loss of privilege have long been suspected. We have examined the ability of reactive oxygen species (ROS) to expose Goodpasture epitopes buried within NC1 hexamers obtained from renal glomeruli abundant in alpha3(IV) NC1 domains. For some hexameric epitopes, like the Goodpasture epitopes, exposure to ROS specifically enhanced recognition by Goodpasture antibodies in a sequential and time-dependent fashion; control binding of epitopes to alpha3(IV) alloantibodies from renal transplant recipients with Alport syndrome was decreased, whereas epitope binding to heterologous antibodies recognizing all alpha3 NC1 epitopes remained the same. Inhibitors of hydrogen peroxide and hydroxyl radical scavengers were capable of attenuating the effects of ROS in cells and kidney by 30-50%, respectively, thereby keeping the Goodpasture epitopes largely concealed when compared with a 70% maximum inhibition by iron chelators. Hydrogen peroxide administration to rodents was sufficient to expose Goodpasture epitope in vivo and initiate autoantibody production. Our findings collectively suggest that ROS can alter the hexameric structure of type IV collagen to expose or destroy selectively immunologic epitopes embedded in basement membrane. The reasons for autoimmunity in Goodpasture syndrome may lie in an age-dependent deterioration in inhibitor function modulating oxidative damage to structural molecules. ROS therefore may play an important role in shaping post-translational epitope diversity or neoantigen formation in organ tissues.

  16. Guillain-Barré Syndrome Animal Model: The First Proof of Molecular Mimicry in Human Autoimmune Disorder

    OpenAIRE

    2010-01-01

    Molecular mimicry between self and microbial components has been proposed as the pathogenic mechanism of autoimmune diseases, and this hypothesis is proven in Guillain-Barré syndrome. Guillain-Barré syndrome, the most frequent cause of acute neuromuscular paralysis, sometimes occurs after Campylobacter jejuni enteritis. Gangliosides are predominantly cell-surface glycolipids highly expressed in nervous tissue, whilst lipo-oligosaccharides are major components of the Gram-negative bacterium C....

  17. [Jerusalem syndrome - a case report].

    Science.gov (United States)

    Poleszczyk, Anna; Swiecicki, Łukasz

    2013-01-01

    The aim of the paper was to present the case of a patient who developed acute psychotic symptoms on her visit to Jerusalem. The analysis of the clinical case and medical history. The presented 62-year-old women with a history of previous psychiatric disorder arrived with her husband to Jerusalem as a part of organised touristic group. She developed acute psychotic reaction through some stages characteristic for the third type of Jerusalem syndrome. Symptoms resolved completely soon after returning to Poland and admission to the hospital where an antipsychotic treatment was performed. Despite the rare occurrence of this phenomenon, it is worth noting that we can divide Jerusalem syndrome into three types depending on its clinical course, patient's history of previous psychiatric disorders and this division has some clinical implications. This syndrome can be also considered in the context of some factors connected with travelling in general which may be responsible for psychiatric disturbances occurring among travelers. The course of psychiatric disturbances in the presented patient resembled the third type of Jerusalem syndrome despite her past psychiatric history and probably travelling caused her decompensations. In clinical practice we have to remember that in case of the patients with a known psychiatric history, clinical evaluation may be useful before travelling. In previously healthy patients developing the third type of the Jerusalem syndrome early intervention and separation from Jerusalem and its holy places and their contact with family are crucial for soon recovery.

  18. A fatal case of bupropion (Zyban hepatotoxicity with autoimmune features: Case report

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    Humayun Fawwaz

    2007-09-01

    Full Text Available Abstract Background Bupropion is approved for the treatment of mood disorders and as an adjuvant medication for smoking cessation. Bupropion is generally well tolerated and considered safe. Two randomized controlled trials of bupropion therapy for smoking cessation did not report any hepatic adverse events. However, there are three reports of severe but non-fatal bupropion hepatotoxicity published in the literature. Case Presentation We present the case of a 55-year old man who presented with jaundice and severe hepatic injury approximately 6 months after starting bupropion for smoking cessation. Laboratory evaluation demonstrated a mixed picture of hepatocellular injury and cholestasis. Liver biopsy demonstrated findings consistent with severe hepatotoxic injury due to drug induced liver injury. Laboratory testing was also notable for positive autoimmune markers. The patient initially had clinical improvement with steroid therapy but eventually died of infectious complications. Conclusion This report represents the first fatal report of bupropion related hepatotoxicity and the second case of bupropion related liver injury demonstrating autoimmune features. The common use of this medication for multiple indications makes it important for physicians to consider this medication as an etiologic agent in patients with otherwise unexplained hepatocellular jaundice.

  19. A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.

    Science.gov (United States)

    Zhang, Junyu; Liu, Hongbin; Liu, Zhiyuan; Liao, Yong; Guo, Luo; Wang, Honglian; He, Lin; Zhang, Xiaodong; Xing, Qinghe

    2013-01-01

    Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disease defined by the presence of two of the three conditions: mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease. Loss-of-function mutations of the autoimmune regulator (AIRE) gene have been linked to APS-1. Here we report mutational analysis and functional characterization of an AIRE mutation in a consanguineous Chinese family with APS-1. All exons of the AIRE gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. We identified a homozygous missense AIRE mutation c.463G>A (p.Gly155Ser) in two siblings with different clinical features of APS-1. In silico splice-site prediction and minigene analysis were carried out to study the potential pathological consequence. Minigene splicing analysis and subsequent cDNA sequencing revealed that the AIRE mutation potentially compromised the recognition of the splice donor of intron 3, causing alternative pre-mRNA splicing by intron 3 retention. Furthermore, the aberrant AIRE transcript was identified in a heterozygous carrier of the c.463G>A mutation. The aberrant intron 3-retaining transcript generated a truncated protein (p.G155fsX203) containing the first 154 AIRE amino acids and followed by 48 aberrant amino acids. Therefore, our study represents the first functional characterization of the alternatively spliced AIRE mutation that may explain the pathogenetic role in APS-1.

  20. Tryptase - PAR2 axis in Experimental Autoimmune Prostatitis, a model for Chronic Pelvic Pain Syndrome

    Science.gov (United States)

    Roman, Kenny; Done, Joseph D.; Schaeffer, Anthony J.; Murphy, Stephen F.; Thumbikat, Praveen

    2014-01-01

    Chronic prostatitis/Chronic pelvic pain syndrome (CP/CPPS) affects up to 15% of the male population and is characterized by pelvic pain. Mast cells are implicated in the murine experimental autoimmune prostatitis (EAP) model as key to chronic pelvic pain development. The mast cell mediator tryptase-β and its cognate receptor protease-activated receptor 2 (PAR2) are involved in mediating pain in other visceral disease models. Prostatic secretions and urines from CP/CPPS patients were examined for the presence of mast cell degranulation products. Tryptase-β and PAR2 expression were examined in murine experimental autoimmune prostatitis (EAP). Pelvic pain and inflammation were assessed in the presence or absence of PAR2 expression and upon PAR2 neutralization. Tryptase-β and carboxypeptidase A3 were elevated in CP/CPPS compared to healthy volunteers. Tryptase-β was capable of inducing pelvic pain and was increased in EAP along with its receptor PAR2. PAR2 was required for the development of chronic pelvic pain in EAP. PAR2 signaling in dorsal root ganglia lead to ERK1/2 phosphorylation and calcium influx. PAR2 neutralization using antibodies attenuated chronic pelvic pain in EAP. The tryptase-PAR2 axis is an important mediator of pelvic pain in EAP and may play a role in the pathogenesis of CP/CPPS. PMID:24726923

  1. A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.

    Directory of Open Access Journals (Sweden)

    Junyu Zhang

    Full Text Available Autoimmune polyendocrine syndrome type 1 (APS-1 is a rare autosomal recessive disease defined by the presence of two of the three conditions: mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease. Loss-of-function mutations of the autoimmune regulator (AIRE gene have been linked to APS-1. Here we report mutational analysis and functional characterization of an AIRE mutation in a consanguineous Chinese family with APS-1. All exons of the AIRE gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. We identified a homozygous missense AIRE mutation c.463G>A (p.Gly155Ser in two siblings with different clinical features of APS-1. In silico splice-site prediction and minigene analysis were carried out to study the potential pathological consequence. Minigene splicing analysis and subsequent cDNA sequencing revealed that the AIRE mutation potentially compromised the recognition of the splice donor of intron 3, causing alternative pre-mRNA splicing by intron 3 retention. Furthermore, the aberrant AIRE transcript was identified in a heterozygous carrier of the c.463G>A mutation. The aberrant intron 3-retaining transcript generated a truncated protein (p.G155fsX203 containing the first 154 AIRE amino acids and followed by 48 aberrant amino acids. Therefore, our study represents the first functional characterization of the alternatively spliced AIRE mutation that may explain the pathogenetic role in APS-1.

  2. Rectal mucosal prolapse syndrome as an unusual gastrointestinal manifestation of Sjögren's syndrome: a case report

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    Koga Hideki

    2009-10-01

    Full Text Available Abstract Introduction Rectal mucosal prolapse syndrome, histologically characterized by fibromuscular obliteration in the lamina propria, hyperplastic glands and thickened muscularis mucosa, causes rectal bleeding. Sjögren's syndrome is an autoimmune exocrinopathy that chiefly destroys the salivary and lacrimal glands by lympho-plasmacytic infiltration. Although various gastrointestinal manifestations have been reported in patients with Sjögren's syndrome, there have not been to our knowledge any case reports to date of rectal mucosal prolapse syndrome in association with Sjögren's syndrome. Case presentation A 68-year-old Japanese woman with Sjögren's syndrome and long-term constipation consulted our hospital because of rectal bleeding. Because of dysphagia and xerostomia, she had consistently refused recommendations to take oral medicines including cathartics. Therefore, she frequently strained excessively during defecation. Colonoscopy and radiological examinations disclosed eroded flat protrusions of the rectum. Microscopic examination demonstrated inflamed mucosa with elongated tortuous glands and fibromuscular obliteration. Based on these findings, a diagnosis of rectal mucosal prolapse syndrome was made. Prohibition of straining during defecation and sulfasalazine suppository use were effective. Conclusion This case highlights the importance of defecation control in patients with Sjögren's syndrome. In the case presented, rectal mucosal prolapse syndrome following long-term excessive straining during defecation caused rectal bleeding. Clinicians should consider rectal mucosal prolapse syndrome as a gastrointestinal manifestation of Sjögren's syndrome.

  3. NOONAN SYNDROMECASE REPORT

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    Milena Vujanović

    2014-06-01

    Full Text Available Noonan Syndrome is a rare, autosomal dominant disorder characterized by short stature, facial abnormalities, congenital heart defects and urogenital malformations. Ocular changes occur in 95% of patients and usually include hypertelorism, ptosis, refractive errors, strabismus, amblyopia, rarely nystagmus, colobomas, cataracts, optic nerve drusen. Case report: We present a case of a boy, 10 months old, referred by the pediatrician because of strabismus. During the general examination of the head and face, we noted that the ears were low-set, and the lower jaw was slightly smaller. Ophthalmological examination revealed hypertelorism, left eye esotropia, hyperopia, and optic disc pit. Other associated malformations were: dilatation of both pyelons, cryptorchidism, pulmonary stenosis. Genetic analysis confirmed the diagnosis of Noonan syndrome. The variety of clinical manifestations of this syndrome indicates that a multidisciplinary approach is necessary for diagnosis, treatment, and follow-up of these patients.

  4. Cohen Syndrome. A Case Report

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    Elayne Esther Santana Hernández

    2014-04-01

    Full Text Available Cohen syndrome is a rare genetic disease that is transmitted in an autosomal recessive pattern. It is characterized by obesity, hypotonia, mental retardation, microcephaly, typical craniofacial dysmorphism, large and prominent central incisors as well as thin, spindle-shaped fingers. The locus for Cohen syndrome has been located on chromosome 8q 22 (COH 1. Few cases have been reported since its description, it is clinically diagnosed through a proper delineation of the phenotype. The case of 14-year-old patient with this syndrome in whom a clinical diagnosis had not been established thus far is presented. An accurate delineation of the phenotype was achieved at this age and consequently, the correct diagnosis was reached, which is critical in order to provide better genetic counseling to the family.

  5. Delleman (Oculocerebrocutaneous Syndrome: Case report

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    Tomás Ortiz-Basso

    2014-01-01

    Full Text Available Delleman syndrome is an unusual entity, characterized by ocular cysts or microphthalmia, focal dermal anomalies and cerebral malformations. In the following article, we carry out a review of the disease and we present the case of a patient with microphthalmos and palpebral coloboma. As we could not put orbital expanders at an early stage, we performed reconstructive surgery.

  6. RECURRENT FETAL LOSS IN THE PRIMARY ANTIPHOSPHOLIPID SYNDROME (CASE REPORT

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    Z S Alekberova

    2000-01-01

    Full Text Available Summary The patient with primary antiphospholipid syndrome (PAPS, who had two out of three pregnancies with intrauterine premature fetus death, was observed. During the last gestation she had corporeal cesarean section, and alive premature girl was extracted. The diagnosis of PAPS was verified basing on relapsing thromboses, repeated premature fetus death and antiphosphilipid antibodies in absence of some autoimmune disease. The peculiarity of this case was late diagnosis of the syndrome, first two episodes of thromboses were not timely diagnosed (diagnoses were as follows: appendicitis, apoplexy of ovary. Only on the background of the third pregnancy the thrombotic genesis of abdominal syndrome was determined. The specter of intensive therapy was suggested which allowed to prevent the development of "catastrophic ” variant of PAPS developing and to keep the child alive.

  7. Stylocarotid syndrome: A case report

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    Petrović Branko

    2008-01-01

    Full Text Available INTRODUCTION The American otolaryngologist Eagle was the first to describe styloid syndrome in 1937 and the syndrome was named after him (Eagle's syndrome. The original description of two separate syndromes is connected with his name: classical syndrome, which almost constantly occurs after tonsillectomy and carotid artery syndrome, which occurs without tonsillectomy and also in cases when stylohyoid complex compresses the carotid segments and perivascular sympathetic fibers. In the following years, two more syndromes were defined: stylohyoid and pseudostylohyoid, which according to their manifestations, correspond to the genuine classical form. CASE OUTLINE A 40-year old male is presented, with a history of 3-year duration of pains in the upper part of the left side of the neck, in the left eye and its surroundings. Pain occurrences were not regular. Throbbing pains were most often provoked by sudden head movements and neck compression. He was healthy until the onset of these problems. The findings of all examinations were normal. The applied prophylactic therapy, typical for cluster headache, was without any effect. On 64-MSCT (multislice computed tomography, the neck arteries did not show any intraluminal pathology. The styloid processes were of normal length. On the left side, the styloid process tip pressed the internal carotid artery disturbing its longitudinal axis. CONCLUSION In our presentation, the defined lengths of the styloid processes were normal. The medial angulation of the left styloid process was more expressed reaching 63.5 degrees (the right side angulation was normal. Persistent and throbbing pain in the region of the left eye with backward projection suggested compression on the internal carotid artery. Pains were most frequently provoked by head turning and neck compression. 64-MSCT diagnostics enabled us to determine the characteristics of styloid processes and their relation to the internal carotid artery. Improvement

  8. A Case of Hepatopulmonary Syndrome.

    Science.gov (United States)

    Sriram, P B; Sindhuja, R; Natarajan, M; Rajamurugan, P S Arul; Palanikumar, B

    2016-03-01

    We report the case of a 52-year-old female, a known case of Chronic Liver Disease with portal hypertension. She presented with dyspnoea, platypnoea, melena, cyanosis, clubbing and orthodeoxia. She had oesophageal varices and splenomegaly indicating portal hypertension. Her arterial blood gas revealed hypoxaemia and orthodeoxia. From this clinical background and investigation, a diagnosis of hepatopulmonary syndrome was made. Patient was managed conservatively as she was not willing for liver transplantation.

  9. Autoimmune diseases in a Nigerian woman - A case report

    African Journals Online (AJOL)

    Hashimoto thyroiditis, Guillian-Barre syndrome, vitiligo, type 1 diabetes ... disturbances and her speech was normal. There v as ... The right knee was swollen with crepitus and reduced range of movements. .... Gene therapy is another area ...

  10. Autoimmunity in visual loss.

    Science.gov (United States)

    Petzold, Axel; Wong, Sui; Plant, Gordon T

    2016-01-01

    There are a number of autoimmune disorders which can affect visual function. There are a very large number of mechanisms in the visual pathway which could potentially be the targets of autoimmune attack. In practice it is the retina and the anterior visual pathway (optic nerve and chiasm) that are recognised as being affected in autoimmune disorders. Multiple Sclerosis is one of the commonest causes of visual loss in young adults because of the frequency of attacks of optic neuritis in that condition, however the basis of the inflammation in Multiple Sclerosis and the confirmation of autoimmunity is lacking. The immune process is known to be highly unusual in that it is not systemic and confined to the CNS compartment. Previously an enigmatic partner to Multiple Sclerosis, Neuromyelitis Optica is now established to be autoimmune and two antibodies - to Aquaporin4 and to Myelin Oligodendrocyte Glycoprotein - have been implicated in the pathogenesis. The term Chronic Relapsing Inflammatory Optic Neuropathy is applied to those cases of optic neuritis which require long term immunosuppression and hence are presumed to be autoimmune but where no autoimmune pathogenesis has been confirmed. Optic neuritis occurring post-infection and post vaccination and conditions such as Systemic Lupus Erythematosus and various vasculitides may cause direct autoimmune attack to visual structures or indirect damage through occlusive vasculopathy. Chronic granulomatous disorders such as Sarcoidosis affect vision commonly by a variety of mechanisms, whether and how these are placed in the autoimmune panoply is unknown. As far as the retina is concerned Cancer Associated Retinopathy and Melanoma Associated Retinopathy are well characterised clinically but a candidate autoantibody (recoverin) is only described in the former disorder. Other, usually monophasic, focal retinal inflammatory disorders (Idiopathic Big Blind Spot Syndrome, Acute Zonal Occult Outer Retinopathy and Acute Macular

  11. [Kartagener's syndrome: a case report].

    Science.gov (United States)

    Thiam, M; Gning, S B; Faye, M B; Fall, P D; Mbaye, A; Charpentier, P

    2002-01-01

    The authors report a rare case of Kartagener's syndrome in 8 years old girl revelated by congenital cardiopathy with chronic bronchitis and severe heart failure. Incomplet endocardial cushion defect with single atrium was found and situs inversus suspected, confirmed by ultrasonography. She undergone cardiac surgery in Europe: atrial septation and mitralvalve repair. Surgery redux was neccessary formitral insufficency and residual shunt. Persistent atelectasia in lower inferior lobe indicated bronchoscopy. Lung biopsy confirmed Kartagener's syndrome. Now, she has no cardiac symptom, but bronchitis and chronic pansinusitis.

  12. Dress Syndrome - A Case Report

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    Kremić Zorana

    2016-06-01

    Full Text Available The drug reaction with eosinophilia and systemic symptoms (DRESS syndrome is an adverse drug-induced reaction that occurs most commonly after exposure to drugs, most frequently anticonvulsants, sulfa derivates, antidepressants, nonsteroidal anti-inflammatory drugs, and antimicrobials. We present a 61-year-old male, with a generalized maculopapular exanthema on the trunk, face, extremities, palms, soles, palate, and fever (38°C. His medical history was notable for generalized epilepsy, treated with carbamazepine during 1 month. The diagnosis of DRESS syndrome was confirmed by specific RegiSCAR criteria. In our case, skin eruptions were successfully treated with oral methylprednisolone, cephalexin, and topical corticosteroid ointment.

  13. Atypical Manifestation of LPS-Responsive beige- like anchor (LRBA Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency.

    Directory of Open Access Journals (Sweden)

    Shahrzad Bakhtiar

    2016-09-01

    Full Text Available Monogenic primary immunodeficiency syndromes can affect one or more endocrine organs by autoimmunity during childhood. Clinical manifestations include type1 diabetes mellitus, hypothyroidism, adrenal insufficiency and vitiligo. LPS-responsive beige-like anchor protein (LRBA deficiency was described in 2012 as a novel primary immunodeficiency, predominantly causing immune dysregulation and early onset enteropathy. We describe the heterogeneous clinical course of LRBA deficiency in two siblings, mimicking an autoimmune polyendocrine disorder in one of them in presence of the same underlying genetic mutation. The third child of consanguineous Egyptian parents (Patient 1 presented at six months of age with intractable enteropathy and failure to thrive. Later on he developed symptoms of adrenal insufficiency, autoimmune haemolytic anaemia, thrombocytopenia, and infectious complications due to immunosuppressive treatment. The severe enteropathy was non-responsive to the standard treatment and led to death at the age of 22 years. His younger sister (Patient 2 presented at the age of 12 to the endocrinology department with decompensated hypothyroidism, perioral vitiligo, delayed pubertal development, and growth failure without enteropathy and immunodeficiency.Using whole-exome sequencing (WES we identified a homozygous frameshift mutation (c.6862delT, p.Y2288MfsX29 in the LRBA gene in both siblings. To our knowledge our patient (patient 2 is the first case of LRBA deficiency described with predominant endocrine phenotype without immunodeficiency and enteropathy. LRBA deficiency should be considered as underlying disease in pediatric patients presenting with autoimmune endocrine symptoms. The same genetic mutation can manifest with a broad phenotypic spectrum without genotype-phenotype correlation. The awareness for disease symptoms among non-immunologists might be a key to early diagnosis. Further functional studies in LRBA deficiency are necessary to

  14. Small duct autoimmune sclerosing cholangitis and Crohn colitis in a 10-year-old child. A case report and review of the literature

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    Larsen Erling

    2012-08-01

    Full Text Available Abstract Autoimmune sclerosing cholangitis is an overlap syndrome characterized by features of both autoimmune hepatitis and primary sclerosing cholangitis, the latter usually involving the large bile ducts. Autoimmune sclerosing cholangitis occurs more often in children than in adults and is frequently associated with inflammatory bowel disease, predominantly ulcerative colitis. We report a unique case of a 10-year-old Danish boy with severe small duct autoimmune sclerosing cholangitis and synchronic Crohn colitis. He was referred with a history of weight loss, abdominal pain, vomiting and diarrhea. Biochemical anomalies included elevated alanine aminotransferase, γ-glutamyl transferase and immunoglobulin G levels and the presence of smooth muscle antibodies and perinuclear antineutrophil cytoplasmic antibodies but normal alkaline phosphatase. Liver biopsy specimen revealed features of both autoimmune hepatitis and sclerosing cholangitis, the latter characterized by acute, hyperplastic and destructive inflammation – granulocytic epithelial lesion – of the small ducts. Magnetic resonance cholangiography was normal. Colonoscopic biopsies showed chronic inflammatory changes of the caecum and the ascending and transverse colon compatible with Crohn disease. Ursodeoxycholic acid and immunosuppressive treatment was initiated and within four weeks of treatment the general condition improved. Normalization of aminotransferase was seen at 21 weeks and γ-glutamyl transferase at 72 weeks after first admittance, while immunoglobulin G remained slightly increased. Virtual slides The virtual slide(s for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1418596609736470

  15. GORDON SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Rita

    2015-03-01

    Full Text Available BACKGROUND: Gordon Syndrome is an extremely rare disorder and it is part of a group of genetic disorders known as Arthrogryposis multiplex congenita. There are congenital contractures in at least two or more areas of body. Gordon Syndrome is characterized by congenital Camptodactyly, Clubfoot and Cleft Palate. CASE CHARACTERISTICS: One month female baby presented with congenital distal contra ctures in hands ( C amptodactyly, talipes equinovarus deformity in both lower limbs ( C lub feet, hyperextension of left leg at knee joint, central cleft palate, oral thrush. INTERVENTION: Treatment of oral thrush, feeding advice and physiotherapy. OUTCOME: Relieved of oral thrush, weight gain started and attached to Plastic Surgery, Orthopedic and Physiotherapy Specialties. MESSAGE: Sporadic cases of this rare disorder do occur and not many cases have been reported from India.

  16. Costello Syndrome. A case report

    Directory of Open Access Journals (Sweden)

    Yadelis Maldonado Martínez

    2014-06-01

    Full Text Available Costello syndrome is an extremely rare multisystem congenital disorder; only about 250 cases have been described in the literature. Its inheritance pattern is considered to be autosomal dominant, although most cases are sporadic, suggesting de novo dominant mutations. The case of a 7-year-old patient from the Frank País municipality in Holguín with clinical manifestations consistent with Costello syndrome is presented. The clinical study and description of his physical characteristics were performed, detecting as main distinctive features: storage disease-like phenotype, failure to thrive, congenital heart disease, coarse facies, mental retardation and humorous personality. Early diagnosis allows early stimulation and intervention, active screening for tumor lesions, as well as provision of genetic counselling to patients.

  17. Glucagonoma syndrome: a case report

    Directory of Open Access Journals (Sweden)

    García Bernardo Carmen M

    2011-08-01

    Full Text Available Abstract Introduction Glucagonoma syndrome is a rare paraneoplastic phenomenon, with an estimated incidence of one in 20 million, characterized by necrolytic migratory erythema, hyperglucagonemia, diabetes mellitus, anemia, weight loss, glossitis, cheilitis, steatorrhea, diarrhea, venous thrombosis and neuropsychiatric disturbances in the setting of a glucagon-producing alpha-cell tumor of the pancreas. Necrolytic migratory erythema is the presenting manifestation in the majority of cases, so its early suspicion and correct diagnosis is a key factor in the management of the patient. Case presentation We present the case of a 70-year-old Caucasian woman with glucagonoma syndrome due to an alpha-cell tumor located in the tail of the pancreas, successfully treated with surgical resection. Conclusion Clinicians should be aware of the unusual initial manifestations of glucagonoma. Early diagnosis allows complete surgical resection of the neoplasm and provides the only chance of a cure.

  18. Primary Sjogren%u2019s Syndrome Associated with Basal Cell Carcinoma: Case Report

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    Tugba Kosker

    2013-04-01

    Full Text Available Sjogren%u2019s syndrome is a chronic autoimmune disease characterized by xerostomia and xerophthalmia, known as the %u2018sicca symptoms%u2019. Patients with Sjogren%u2019s syndrome, characteristically have positive nuclear and cytoplasmic antigens, typically Anti-Ro/SSA and Anti-La/SSB because of lymphocytic infiltration of the exocrine glands. Patients with primary Sjogren%u2019s syndrome, develop systemic complications, non-Hodgkin lymphoma being the most feared of these. We describe here a case of Sjogren%u2019s syndrome with basal cell carcinoma, which presented with an ulcerated lesion on nasal dorsum.

  19. Antiphospholipid syndrome presenting as progressive neuropsychiatric disorders: two case reports

    Directory of Open Access Journals (Sweden)

    Li CH

    2013-05-01

    Full Text Available Chien-Hsun Li,1–3 Mei-Chuan Chou,2,4 Ching-Kuan Liu,2,3 Chiou-Lian Lai2,31Department of Neurology, Fooyin University Hospital, Pingtung, Taiwan; 2Department of Neurology, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan; 3Department of and Master’s Program in Neurology, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; 4Department of Neurology, Kaohsiung Municipal Ta-Tung Hospital, Kaohsiung, TaiwanAbstract: The antiphospholipid syndrome (APS is a rare form of autoimmune coagulopathy. In this syndrome, the most common neurologic abnormality is transient ischemic attack. This can be easily overlooked if a patient presents with progressive neuropsychiatric disorders, such as depression or dementia. We report two cases of young women, aged 35 and 22 years, presenting with progressive depression and mental decline over a certain period. The neuropsychological diagnoses of the two patients were, respectively, dementia with disinhibition and borderline dementia with depression. Brain magnetic resonance imaging showed multiple old infarcts with encephalomalacia in the former case, and only one cortical hemorrhagic infarction, over the right temporoparietal lobe, observed in the latter case. The outcomes of the two cases were also very different. Progressive neuropsychiatric disorders are increasingly observed in the young; therefore, APS and other autoimmune diseases should be considered during the differential diagnosis. Brain imaging examinations may prevent a delay in the detection of a structural lesion and facilitate the early intervention with good prognosis. Careful investigations by experts from different disciplines are always encouraged in complicated cases.Keywords: autoimmune disease, brain imaging, dementia, depression, cerebrovascular disease

  20. Pediatric Sjogren syndrome with distal renal tubular acidosis and autoimmune hypothyroidism: an uncommon association.

    Science.gov (United States)

    Agarwal, Amit; Kumar, Pradeep; Gupta, Nomeeta

    2015-11-01

    A 14-year-old female came with the history of sudden onset weakness; during work up, she was found to have hyperchloremic metabolic acidosis with normal anion gap and normal renal function suggesting the possibility of renal tubular acidosis (RTA). On further evaluation of RTA, she had positive antinuclear antibody, anti-Ro, and anti-La antibodies. On nuclear scan of salivary glands, her left parotid gland was nonfunctional. Her parotid biopsy revealed dilated interlobular ducts engulfed by lymphoid cells. She also had autoimmune hypothyroidism as suggested by raised TSH and positive anti-TPO antibodies. At admission, her serum potassium levels were low and she was treated with intravenous potassium chloride. After she recovered from acute hypokalemic paralysis, she was started on oral potassium citrate along with phosphate supplements, hydroxychloroquine, oral prednisolone and thyroxine supplements. Over the next 6 months, she has significant reduction in the dosage of potassium, bicarbonate and phosphate and gained 3 kg of weight and 3.5 cm of height. As primary Sjogren syndrome itself is rare in pediatric population and its association with renal tubular acidosis is even rarer, we suggest considering Sjogren syndrome as a differential diagnosis during the RTA work-up is worth trying.

  1. The alpha 3 chain of type IV collagen induces autoimmune Goodpasture syndrome.

    Science.gov (United States)

    Kalluri, R; Gattone, V H; Noelken, M E; Hudson, B G

    1994-06-21

    Human Goodpasture syndrome is a lethal form of autoimmune disease that is characterized by pulmonary hemorrhage and glomerulonephritis. The tissue injury is mediated by autoantibodies that bind to glomerular and alveolar basement membrane. The target autoantigen is alpha 3(IV) collagen, one of six genetically distinct chains that comprise type IV collagen, and the epitope is sublocalized to the noncollagenous domain (NC1) of the alpha 3 chain. The present study reports the unique capacity of alpha 3(IV)NC1 dimer from bovine kidney to aberrantly engage the immune system of rabbits to respond to self, mimicking the organ-specific form of the human disease, whereas the other chains of type IV collagen are nonpathogenic. However, alpha 3(IV)NC1 hexamer was nonpathogenic, suggesting the exposure of a pathogenic epitope upon dissociation of hexamer into dimers. Exposure of the pathogenic epitope by infection or organic solvents, events which are thought to precede Goodpasture syndrome, may be the principal factor in the etiology of the disease. The pathogenicity of alpha 3(IV) collagen brings full circle a decade of research that has identified four novel chains (alpha 3-alpha 6) of type IV collagen.

  2. Increased prevalence of autoimmune disorders and autoantibodies in parents of children with opsoclonus-myoclonus syndrome (OMS).

    Science.gov (United States)

    Krasenbrink, I; Fühlhuber, V; Juhasz-Boess, I; Stolz, E; Hahn, A; Kaps, M; Hero, B; Blaes, F

    2007-06-01

    Opsoclonus-myoclonus syndrome (OMS) is a rare neurological disease in childhood which can be associated with neuroblastoma. Since autoantibodies have been detected in some patients with OMS, an autoimmune etiology is suspected. We compared the prevalence of autoimmune disorders and autoantibodies in parents of children with OMS and in a group of controls of same age and sex. Autoimmune diseases were found in 15.8% of the parents of OMS children, but only in 2.0% of the controls (pOMS parents (42.8% vs. 8.0%, pOMS parents also had significantly more autoantibodies against CNS structures than the controls (pOMS and may also hint to a genetic susceptibility for OMS.

  3. Griscelli Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Seyed Ebrahim MANSOURI NEJAD

    2014-12-01

    Full Text Available How to Cite This Article: Mansouri Nejad SE, Yazdan panah MJ, Tayyebi Meibodi N, Ashrafzadeh F, Akhondian J, BeiraghiToosi M, Eslamieh H. Griscelli Syndrome: A Case Report. Iran J Child Neurol. 2014 Autumn;8(4: 72-75.ObjectiveGriscelli syndrome (GS is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the first decade of life. In this article, we report a one-year-old child with type 2 GS who suffers from pigmentation disorder and hypogammaglobulinemia.ReferencesKharkar V, Pande S, Mahajan S, Dwiwedi R, Khopkar U. Griscelli syndrome: a new phenotype with circumscribed pigment loss? Dermatol Online J 2007 1;13(2:17.Sheela SR, Latha M, Susy JI. Griscelli syndrome: Rab 27a mutation. Indian Pediatrics 2004; 41:944-947.González Carretero P, Noguera Julian A, Ricart Campos S, Fortuny Guasch C, Martorell Sampol L. Griscelli-Prunieras syndrome: report of two cases. An Pediatr (Barc 2009 ; 70(2:164-7.Szczawinska-Poplonyk A, Kycler Z, Breborowicz A, Klaudel-Dreszler M, Pac M, Zegadlo-Mylik M, et al. Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. Viral Immunol 2011 Dec;24(6:471-3.Durmaz A, Ozkinay F, Onay H, Tombuloglu M, Atay A, Gursel O, et al. Molecular analysis and clinical findings of Griscelli syndrome patients. J Pediatr Hematol Oncol 2012 Oct;34(7:541-4.Reddy RR, Babu BM, Venkateshwaramma B, Hymavathi Ch. Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. Int J Trichology 2011; 3(2:107-11.Sahana M, Sacchidanand S, Hiremagalore R, Asha G. Silvery grey hair: clue to diagnose immunodeficiency. Int J Trichology 2012;4(2:83-5.Mahalingashetti PB, Krishnappa MH, Kalyan PS

  4. Hemophagocytic Syndrome an Autopsy Case

    Directory of Open Access Journals (Sweden)

    Ferah Karayel

    2003-08-01

    Full Text Available Hemophagocytic Syndrome (HPS is frequently fatal condition accompanied with fever, cytopenia, hepatosplenomegaly, abnormal liver function tests, hypertriglyceridemia and hypofibrinogenemia. The goal of this study is to present HPS which we encountered very often in pediatric autopsies and emphasize the necessity of collecting tissue specimens from bone marrow, spleen and lymph nodes by including this syndrome in differentiating autopsy diagnosis from situations with similar symptômes. This case was a four mounth old male child who was autopsied in The State Institute of Forensic Medicine, Istanbul. The child was presented without external trauma findings, small sized subarachnoidal hemorrages in brain, 0.5 cm in diameter atrial septal defect in the heart, and dappled atelectatic feature in both lungs were observed in gross examination. While liver was 380 gr in weight and showed colour changes to yellow, spleen was 320 gr in weight and showed no evidence of gross changing but severe congestion. No evidence of gross pathologic manifestations was found in other organs. The histopathological examination of the organs showed mononuclear inflammatory cell infiltration with histiocytic dominance in myocardium, lungs, brain, cerebellum, lymph nodes and bone marrow. Particularly in bone marrow specimens, there was phagocytosis of erythrocyte, polymorphonuclear leukocyte and lymphocyte in cytoplasm of some histiocytes. The infiltration showed granulomatous structures in brain and cerebellum. In lung specimens, that infiltration was accompanied with alveolitis, alveolar epithelial damage and hyaline membrane materials, but there was no viral inclusion. Liver, kidneys and spleen were not evaluated in detail because of autolysis. In the evidence of clinical and microscopical findings, the diagnosis was 'Hemophagocytic Syndrome'. Hemophagocytic Syndrome which could be secondary to a viral infection was considered the cause of death in this case showed no

  5. [Autoimmune hepatitis].

    Science.gov (United States)

    Ostojić, Rajko

    2003-01-01

    Autoimmune hepatitis is an unresolving, hepatocellular inflammation of unknown cause that is characterized by the presence of periportal hepatitis on histologic examination, tissue autoantibodies in serum, and hypergammaglobulinemia. By international consensus, the designation autoimmune hepatitis has replaced alternative terms for the condition. Three types of autoimmune hepatitis have been proposed based on immunoserologic findings. Type 1 autoimmune hepatitis is characterized by the presence of antinuclear antibodies (ANA) or smooth muscle antibodies (SMA) (or both) in serum. Seventy percent of patients with type 1 of autoimmune hepatitis are women. This type is the most common form and accounts for at least 80% of cases. Type 2 is characterized by the presence of antibodies to liver-kidney microsome type 1 (anti-LKM1) in serum. Patients with this type of autoimmune hepatitis are predominantly children. Type 3 autoimmune hepatitis is characterized by the presence of antibodies to soluble liver antigen (anti-SLA) in serum. There are no individual features that are pathognomonic of autoimmune hepatitis, and its diagnosis requires the confident exclusion of other conditions. The large majority of patients show satisfactory response to corticosteroid (usually prednisone or prednisolone) therapy. For the past 30 years it has been customary to add azathioprine as a "steroid sparing" agent to allow lower doses of steroids to be used and remission, once achieved, can be sustained in many patients with azathioprine alone after steroid withdrawal. Patients with autoimmune hepatitis who have decompensated during or after corticosteroid therapy are candidates for liver transplantation.

  6. Three Cases of Bronchial Asthma Preceding IgG4-Related Autoimmune Pancreatitis

    Directory of Open Access Journals (Sweden)

    Satoru Ito

    2012-01-01

    Discussion: It is possible that atopy and increased Th2 cell activity are related to a higher coincidence of IgG4-related diseases such as type 1 autoimmune pancreatitis. Because the present cases are few in number, further studies are necessary.

  7. [Sjögren's syndrome - case report].

    Science.gov (United States)

    Ladino, R Mabel; Gasitulli, O Angelina; Campos, M Ximena

    2015-01-01

    Sjögren's syndrome (SS) is a chronic autoimmune disease that primarily affects the lacrimal and salivary exocrine glands. In children, it is a rare condition. To present the case of an adolescent with non-specific symptoms, but with a clinical suspicion of SS. A male 12-year old patient, with history of arthralgias for 3 years and suspicion of xerophthalmia. Physical examination showed mild conjunctival congestion, dry mouth and hypermobility of the knees. Laboratory work: blood count and ESR were normal, antinuclear antibodies (+) > 60, Ro (+) > 60 U, and rheumatoid factor concentration (+) 160 IU / ml. SS was suspected, and a study was carried out: Schirmer test determined mild dry eye, salivary gland scintigraphy showed parotid and submandibular gland dysfunction, and salivary gland biopsy reported focal lymphocytic acinar and periductal infiltration. SS was confirmed and treated with prednisone 7.5mg/day and hydroxychloroquine 200mg/day, and local treatment, with good response. The diagnostic criteria for SS in adults identified only 39% of pediatric patients, due to the low frequency of sicca symptoms. Still there are no validated diagnostic criteria for children. A good diagnosis will alleviate symptoms, prevent complications and detect associated diseases. Copyright © 2015. Publicado por Elsevier España, S.L.U.

  8. Association of an overlap syndrome of autoimmune hepatitis and primary biliary cirrhosis with cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Toyoda-Akui M

    2011-05-01

    Full Text Available Megumi Toyoda-Akui1,4, Hiroaki Yokomori1, Fumihiko Kaneko1,4, Yuki Shimizu1, Hajime Takeuchi1, Kumiko Tahara1, Hide Yoshida1, Hirobumi Kondo1, Tadashi Motoori2, Makoto Ohbu3, Masaya Oda5, Toshifumi Hibi61Department of Internal Medicine, 2Division of Pathology, Kitasato Medical Center Hospital, Kitasato University, Saitama; 3Department of Pathology, School of Allied Health Sciences, Kitasato University, Sagamihara, Kanagawa; 4Department of Internal Medicine, Saitama Social Insurance Hospital, Saitama; 5Organized Center of Clinical Medicine, International University of Health and Welfare, Tokyo; 6Division of Gastroenterology, Department of Internal Medicine, School of Medicine, Keio University, Tokyo, JapanAbstract: A 63-year-old woman, who presented with severe jaundice and elevated serum conjugated bilirubin level, denied alcohol and drug use and showed no evidence of viral hepatitis. Based on clinical and laboratory features, she was diagnosed with autoimmune hepatitis with primary biliary cirrhosis. Hematological and immunochemical assays, radiographic imaging, clinical examination, and liver biopsy were conducted. Laboratory results were the following: negative for fluorescence antinuclear antibody, negative for antismooth muscle antibodies but positive for antinuclear antibody (enzyme-linked immunosorbent assay and antimitochondrial M2 antibody, high titers of serum globulin, and positive for cytomegalovirus IgM. Liver biopsy showed submassive lobular necrosis, inflammation with broad areas of parenchymal collapse, and chronic nonsuppurative destructive cholangitis. The patient responded well to corticosteroid therapy. This case might illustrate an association between cytomegalovirus infection and the occurrence of autoimmune hepatitis.Keywords: autoimmune hepatitis, fluorescence antinuclear antibody, enzyme linked immuno sorbent assay, primary biliary cirrhosis, cytomegalovirus infection

  9. NEONATAL ABSTINENCE SYNDROME - CASE REPORT

    Directory of Open Access Journals (Sweden)

    Aleksandra Matic

    2008-01-01

    Full Text Available Neonatal abstinence syndrome (NAS refers to the constellation of signs and symptoms exhibited by a newborn of drug-abusing mother. NAS is multisystemic disorder, most frequently involving central nervous and gastrointestinal systems with irritability, high-pitched cry, hyperactive reflexes, increased muscle tone, tremors, generalized convulsions, feeding and sleeping disorders, tachycardia, tachypnea, apnea, termolability and sweating, frequent hiccups, yawning and sneezing, vomiting, diarrhea and dehydration.Intrauterine narcotic disposition can give some other adverse effects beside NAS: fetal distress, premature birth, intrauterine growth retardation, microcephaly, increased incidence of congenital anomalies (cardiac and genitourinary anomalies, cleft palate, biliar atresia. Significantly increased risks of sudden infant’s death syndrome (SIDS, abnormalities in neurocognitive and behavioral development and deficiency in motor functions have also been noticed after the long-term surveys of these children.This paper is a case report of a newborn with developed clinical signs of NAS, but it also discusses diagnostics and management of such cases

  10. Diogenes Syndrome: A Case Report

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    Projna Biswas

    2013-01-01

    Full Text Available Cessation of normal skin cleansing seen in geriatric or self-neglected patients can cause accumulation of keratinous crusts on the skin. In the extreme end of this spectrum is a condition known as Diogenes syndrome (DS. These patients may have psychiatric disorders like paranoid disorders, mood affection, or temporofrontal dementia. Subjects are mainly the elderly but few cases in younger age group of patients have also been reported. Lesions of DS are usually found over upper central chest, back, and groin. In the young, lesions are mainly found over scalp, face, or arms. Absence of normal skin cleaning causes keratin and dirty debris to accumulate and with time form a thick shell. These debris can be secondarily infected by bacteria, fungus, and so forth. These skin lesions are not usually seen in individual with proper hygiene. We report a case of Diogenes syndrome in a 34-year-old young male patient who had associated schizophrenia.

  11. Pediatric Autoimmune Disorders Associated with Streptococcal Infections and Tourette's Syndrome in Preclinical Studies.

    Science.gov (United States)

    Spinello, Chiara; Laviola, Giovanni; Macrì, Simone

    2016-01-01

    Accumulating evidence suggests that Tourette's Syndrome (TS) - a multifactorial pediatric disorder characterized by the recurrent exhibition of motor tics and/or vocal utterances - can partly depend on immune dysregulation provoked by early repeated streptococcal infections. The natural and adaptive antibody-mediated reaction to streptococcus has been proposed to potentially turn into a pathological autoimmune response in vulnerable individuals. Specifically, in conditions of increased permeability of the blood brain barrier (BBB), streptococcus-induced antibodies have been proposed to: (i) reach neuronal targets located in brain areas responsible for motion control; and (ii) contribute to the exhibition of symptoms. This theoretical framework is supported by indirect evidence indicating that a subset of TS patients exhibit elevated streptococcal antibody titers upon tic relapses. A systematic evaluation of this hypothesis entails preclinical studies providing a proof of concept of the aforementioned pathological sequelae. These studies shall rest upon individuals characterized by a vulnerable immune system, repeatedly exposed to streptococcus, and carefully screened for phenotypes isomorphic to the pathological signs of TS observed in patients. Preclinical animal models may thus constitute an informative, useful tool upon which conducting targeted, hypothesis-driven experiments. In the present review we discuss the available evidence in preclinical models in support of the link between TS and pediatric autoimmune neuropsychiatric disorders associated with streptococcus infections (PANDAS), and the existing gaps that future research shall bridge. Specifically, we report recent preclinical evidence indicating that the immune responses to repeated streptococcal immunizations relate to the occurrence of behavioral and neurological phenotypes reminiscent of TS. By the same token, we discuss the limitations of these studies: limited evidence of behavioral phenotypes

  12. Leucine-rich glioma inactivated-1 and voltage gated potassium channel autoimmune encephalitis associated with ischemic stroke; A Case Report

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    Marisa Patryce McGinley

    2016-05-01

    Full Text Available Autoimmune encephalitis is associated with a wide variety of antibodies and clinical presentations. Voltage gated potassium channel (VGKC antibodies are a cause of autoimmune non-paraneoplastic encephalitis characterized by memory impairment, psychiatric symptoms, and seizures. We present a case of VGKC encephalitis likely preceding an ischemic stroke. Reports of autoimmune encephalitis associated with ischemic stroke are rare. Several hypothesizes linking these two disease processes are proposed.

  13. Presumed Isotretinoin-Induced, Concomitant Autoimmune Thyroid Disease and Ocular Myasthenia Gravis: A Case Report

    Directory of Open Access Journals (Sweden)

    Huseyin Gursoy

    2012-11-01

    Full Text Available Introduction: There are many adverse effects that have been described for isotretinoin. To the best of our knowledge, this is the first report of a possible association of oral isotretinoin intake with autoimmune thyroiditis and ocular myasthenia gravis (OMG. Case Presentation: A 19-year-old Caucasian male, who had used oral isotretinoin for severe acne disease for the previous six months, was referred to our clinic. He had a three-week history of diplopia and variable bilateral ptosis. Physical examination showed moderate periorbital edema and limitations of up- and down-gaze in the left eye. Laboratory findings and thyroid ultrasound were consistent with autoimmune thyroiditis. Antithyroid therapy did not relieve the clinical symptoms. Concomitant OMG was suspected. Variable ptosis and a positive response to oral prednisolone of 40 mg/day and pyridostigmine of 360 mg/day supported the diagnosis of concomitant autoimmune thyroiditis and OMG. Conclusion: Autoimmune disorders may be triggered by oral isotretinoin treatment. Clinicians prescribing isotretinoin should be aware of the possible association between isotretinoin intake and concomitant autoimmune thyroiditis and OMG.

  14. 自身免疫重叠综合征%Autoimmune overlap syndromes

    Institute of Scientific and Technical Information of China (English)

    陈嵩; 王宇明

    2005-01-01

    自身免疫性肝病(autoimmune liver diseases)是指由于机体的自身免疫反应攻击肝组织而非病毒感染所致肝病,主要包括自身免疫性肝炎(autoimmune hepatitis,AIH)、原发性胆汁性肝硬化(primary biliary cirrhosis,PBC)及原发性硬化性胆管炎(primary sclerosing cholangitis,PSC),前者主要表现为肝细胞炎症坏死、后二者主要表现为肝内胆汁淤积.自身免疫性肝病的表现有时不典型或相互重叠,给临床诊断和治疗带来困难,称为自身免疫重叠综合征(autoimmuneoverlap syndromes),是指AIH、PBC、PSC相互重叠.自身免疫重叠综合征诊断应包括对临床、血清学、影像学及组织学等的综合分析.目前对自身免疫重叠综合征的解释:(1)当综合标准提示三种自身免疫性肝病,单项指标缺乏特异性时,提示重叠综合征;(2)自身免疫性胆管炎(autoimmune cholangitis,AIC)为AIH加胆汁淤积,他不是一个独立疾病,应考虑为抗线粒体抗体(AMA)阴性的PBC,宜按PBC治疗;(3)部分重叠综合征仅系疾病早期表现,以后可呈现某一种自身免疫性肝病;(4)伴有界面性肝炎的PBC或PSC可用免疫抑制剂加熊去氧胆酸治疗,前者无效则应撤除,以免产生骨骼脱钙.

  15. Polyglandular autoimmune syndromes: immunogenetics and long-term follow-up.

    Science.gov (United States)

    Dittmar, Manuela; Kahaly, George J

    2003-07-01

    Polyglandular autoimmune syndromes (PAS) are rare polyendocrinopathies characterized by the failure of several endocrine glands as well as nonendocrine organs, caused by an immune-mediated destruction of endocrine tissues. This article summarizes extensive clinical, epidemiological, serological, and genetic data of a large collective of patients with PAS (n = 360). Since 1988, more than 15,000 adult patients with endocrine diseases have been screened at the endocrine center of the Mainz University, and 151 of 360 patients with PAS have regularly been followed. Type 1 diabetes, Graves' disease, Hashimoto thyroiditis, Addison's disease, vitiligo, alopecia, hypogonadism, and pernicious anemia were observed in 61%, 33%, 33%, 19%, 20%, 6%, 5%, and 5%, respectively. The most common disease combination was type 1 diabetes and autoimmune thyroid disease. In most patients, type 1 diabetes was the first manifestation of PAS (48%). The longest time intervals between manifestations of the first and second immune endocrinopathies occurred between type 1 diabetes and thyroid disease (13.3 +/- 11.8 yr) and between vitiligo and thyroid disease (16.3 +/- 13.3 yr), but a shorter time interval was observed between Addison's and thyroid diseases. Of the 471 patients with type 1 diabetes screened, 83 (17.6%) were positive for PAS. Subsequently, sera of 126 patients with PAS, 287 with type 1 diabetes, and 303 matched controls were compared for human leukocyte antigens. Patients with PAS had significantly higher frequencies of the human leukocyte antigens A24, A31, B8, B51, B62, DR3, and DR4 (relative risk, 2.35, 2.74, 2.47, 7.17, 2.22, 1.94, and 2.46) vs. controls, and for A31, B15, B52, B55, DR2, DR11, and DR13 (relative risk, 2.51, 7.96, 3.99, 5.36, 4.46, 2.89, and 3.26) vs. type 1 diabetes patients without PAS. In conclusion, patients with autoimmune endocrine disease should be followed on a regular basis. In subjects at risk for PAS, functional screening every 3 yr is warranted. If

  16. Plummer Vinson syndrome: case report.

    Science.gov (United States)

    Jani, P G

    2001-06-01

    Plummer Vinson syndrome is characterised by dysphagia, iron deficiency, anaemia and oesophageal web or webs. This is a case report of a 33 year old Asian female who presented with slowly progressive dysphagia and a long history of iron deficiency anaemia. The anaemia was confirmed on repeated haemograms and a barium swallow revealed an upper oesophageal web. Upper gastrointestinal endoscopy and forceful dilatation were necessary to effect relief of dysphagia.

  17. Progeria syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Rastogi Rajul

    2008-01-01

    Full Text Available Progeria is a rare and peculiar combination of dwarfism and premature aging. The incidence is one in several million births. It occurs sporadically and is probably an autosomal recessive syndrome. Though the clinical presentation is usually typical, conventional radiological and biochemical investigations help in confirming the diagnosis. We present a rare case of progeria with most of the radiological features as a pictorial essay.

  18. Eagle syndrome: a case report

    OpenAIRE

    Nilüfer Ersan; Mehmet İlgüy; Dilhan İlgüy

    2016-01-01

    INTRODUCTION: Eagle syndrome, an uncommon sequela of elongation of the styloid process or calcification of the stylohyoid ligament, can manifest as pain in the face and the anterolateral neck, often with referred pain to the ear and the temporomandibular joint area. CASE REPORT: A 43-year-old female patient presented to the Dentomaxillofacial Radiology Department with complaints of unremitting unilateral facial and neck pain, limitation in the movement of the neck, sensation of foreign bo...

  19. Rett syndrome: A rare case

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    Deepika Verma

    2016-01-01

    Full Text Available Rett syndrome (RTT is rare, affects predominantly female children. It presents as a pervasive developmental disorder with a remarkable behavioral phenotype. The discovery that mutation in methyl-C-phosphate-G-binding protein 2 causes RTT has focused attention to the importance of epigenetic modifications in neuronal function. We report a case of RTT in a 7-year-old female child and use of behavioral techniques and social skill training to control the behavioral symptoms.

  20. Macrophage activation syndrome triggered by coeliac disease: a unique case report.

    Science.gov (United States)

    Palman, J; May, J; Pilkington, C

    2016-12-09

    Macrophage activation syndrome is described as a "clinical syndrome of hyperinflammation resulting in an uncontrolled and ineffective immune response" in the context of an autoinflammatory or rheumatic disease. Current associations of macrophage activation syndrome with autoimmune disease most notably include a host of rheumatological conditions and inflammatory bowel disease. Epidemiological studies have shown that macrophage activation syndrome is precipitated by autoimmune disease more commonly than previously thought. Diagnosing the precipitating factor is essential for effective treatment and prognosis. We report a case of a six year old girl with coeliac disease diagnosed after two episodes of secondary haemophagocytic lymphohistiocytosis. Her condition only responded to treatment once the patient was placed on a gluten free diet. Further immunological testing confirmed anti-transglutaminase and anti-endomysial antibodies, however histological biopsy was deemed inappropriate due to the severity of her condition. She has remained stable with no further episodes of macrophage activation syndrome since commencing a gluten free diet. This case report is the first literature that links macrophage activation syndrome to coeliac disease and highlights the challenge of diagnosing coeliac disease with unusual features such as associated prolonged fever. Clinicians should have a low threshold for screening children with other autoimmune diseases for coeliac disease.

  1. A Case of Non-Swelling Autoimmune Pancreatitis with Multiple Pancreatic Pseudocysts

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    Hirotsugu Maruyama

    2016-09-01

    Full Text Available Non-swelling autoimmune pancreatitis with multiple pancreatic pseudocysts is very rare. Case report A Seventy-five-year-old man was referred to our hospital for further examination of multiple pancreatic cysts with nodules detected by computed tomography. Endoscopic ultrasound examination showed a pancreatic cyst with a nodule (6.3 mm in diameter in the pancreatic head and another pancreatic cyst with a nodule (8.7 mm in diameter in the pancreatic tail, and these cysts were connected to the main pancreatic duct. The patient was clinically diagnosed with branch duct type intraductal papillary mucinous neoplasm of the pancreas. The recent international consensus guidelines indicate that a mural nodule indicates high risk for malignancy and recommend surgical resection of branch duct type intraductal papillary mucinous neoplasm with mural nodule. Therefore, pancreatoduodenectomy and pancreatic body tail resection were performed in our hospital. Histopathological findings showed IgG4-positive plasma cells and obstructive phlebitis. Autoimmune pancreatitis associated with multiple pancreatic pseudocysts was the final diagnosis. Conclusions We encountered a rare case of autoimmune pancreatitis with pseudocyst but not swollen pancreas nor an increase in serum IgG4 level. The correct diagnosis was very difficult before surgical treatment. In clinical cases with various pancreatic cystic lesions, it is necessary to consider autoimmune pancreatitis in the differential diagnosis.

  2. Association of autoimmune hepatitis and systemic lupus erythematodes: a case series and review of the literature.

    Science.gov (United States)

    Beisel, Claudia; Weiler-Normann, Christina; Teufel, Andreas; Lohse, Ansgar W

    2014-09-21

    Liver test abnormalities have been described in up to 60% of patients with systemic lupus erythematodes (SLE) at some point during the course of their disease. Prior treatment with potentially hepatotoxic drugs or viral hepatitis is commonly considered to be the main cause of liver disease in SLE patients. However, in rare cases elevated liver enzymes may be due to concurrent autoimmune hepatitis (AIH). To distinguish whether the patient has primary liver disease with associated autoimmune clinical and laboratory features resembling SLE - such as AIH - or the elevation of liver enzymes is a manifestation of SLE remains a difficult challenge for the treating physician. Here, we present six female patients with complex autoimmune disorders and hepatitis. Patient charts were reviewed in order to investigate the complex relationship between SLE and AIH. All patients had coexisting autoimmune disease in their medical history. At the time of diagnosis of AIH, patients presented with arthralgia, abdominal complaints, cutaneous involvement and fatigue as common symptoms. All patients fulfilled the current diagnostic criteria of both, AIH and SLE. Remission of acute hepatitis was achieved in all cases after the initiation of immunosuppressive therapy. In addition to this case study a literature review was conducted.

  3. A case of autoimmune cholangitis misdiagnosed for cholangiocarcinoma: How to avoid unnecessary surgical intervention?

    Directory of Open Access Journals (Sweden)

    Ignjatović Igor I.

    2015-01-01

    Full Text Available Introduction. Autoimmune cholangitis or immunoglobulin G4-associated cholangitis (IAC has been recently regarded as a new clinical and histopathological entity and is a part of a complex autoimmune disorder - IgG4-related systemic disease (ISD. ISD is an autoimmune disease with multi-organic involvement, characterized with IgG4-positive plasmocytic infiltration of various tissues and organs with a consequent sclerosis, which responds well to steroid therapy. Most commonly affected organs are the pancreas (autoimmune pancreatitis, [AIP] and the common bile duct (IAC. IAC and cholangiocarcinoma (CCA share many clinical, laboratory and imaging findings. Case Outline. We present a case of a 60-year-old male with a biliary stricture of a common bile duct, which was clinically considered as a bile duct carcinoma and treated surgically. Definite histopathological findings and immunohistochemistry revealed profound chronic inflammation, showing lymphoplasmacytic IgG-positive infiltration of a resected part of a common bile duct, highly suggestive for the diagnosis of IAC. In addition, postoperative IgG4 serum levels were also increased. Conclusion. It is of primary clinical importance to make a difference between IAC and CCA, in order to avoid unnecessary surgical intervention. Therefore, IAC should be considered in differential diagnosis in similar cases.

  4. A Case of Pancreatic Cancer in the Setting of Autoimmune Pancreatitis with Nondiagnostic Serum Markers

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    Manju D. Chandrasegaram

    2013-01-01

    Full Text Available Background. Autoimmune pancreatitis (AIP often mimics pancreatic cancer. The diagnosis of both conditions is difficult preoperatively let alone when they coexist. Several reports have been published describing pancreatic cancer in the setting of AIP. Case Report. The case of a 53-year-old man who presented with abdominal pain, jaundice, and radiological features of autoimmune pancreatitis, with a “sausage-shaped” pancreas and bulky pancreatic head with portal vein impingement, is presented. He had a normal serum IgG4 and only mildly elevated Ca-19.9. Initial endoscopic ultrasound-(EUS- guided fine-needle aspiration (FNA of the pancreas revealed an inflammatory sclerosing process only. A repeat EUS guided biopsy following biliary decompression demonstrated both malignancy and features of autoimmune pancreatitis. At laparotomy, a uniformly hard, bulky pancreas was found with no sonographically definable mass. A total pancreatectomy with portal vein resection and reconstruction was performed. Histology revealed adenosquamous carcinoma of the pancreatic head and autoimmune pancreatitis and squamous metaplasia in the remaining pancreas. Conclusion. This case highlights the diagnostic and management difficulties in a patient with pancreatic cancer in the setting of serum IgG4-negative, Type 2 AIP.

  5. Pediatric Autoimmune Hepatitis in a Patient Who Presented With Erythema Nodosum: A Case Report

    Directory of Open Access Journals (Sweden)

    Zohreh Kavehmanesh

    2012-01-01

    Full Text Available Background: Autoimmune hepatitis (AIH is a form of chronic hepatitis with unclear causative factors and is characterized by immunological and auto-immunological manifestations. Several extrahepatic manifestations, such as other autoimmune disorders, are associated with AIH. AIH with dermatological conditions as the initial manifestation is rare. We report the case of AIH in which erythema nodosum (EN was the first manifestation.Case Presentation: An 8-year-old girl with several persistent dermatological lesions was referred to our hospital several months ago. Her skin had nodular, painful, dry, and erythematous lesions, predominantly on the extensor areas of both the legs, with some erythematous patches on her face. Physical examination revealed that she had hepatosplenomegaly as well. Skin biopsy indicated EN. The results of the laboratory tests showed increased levels of several liver enzymes. The patient's International Autoimmune Hepatitis Group (IAIHG score was a definite indicator of AIH. The results of liver biopsy indicated AIH. Other causes of EN and abnormal liver function were ruled out. The only obvious cause of skin lesions was chronic inflammation due to an autoimmune response. The patient was treated for AIH, and her skin lesions along with other signs and symptoms resolved.Conclusions: AIH can present with protean clinical manifestations, and is thus associated with the risk of delayed diagnosis. Dermatological manifestations, including EN, could indicate a serious disease, and further investigation might be required. AIH should be considered as the possible diagnosis in such cases.

  6. A Case of Blau Syndrome

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    Krati Chauhan

    2014-01-01

    Full Text Available We present a case of systemic granulomatous disorder/Blau syndrome. A patient was seen at our clinic with a diagnosis of Juvenile Idiopathic Arthritis (JIA. He was diagnosed with polyarticular JIA when he was two years old, at that time primary manifestations included inflammation of the hand and wrist joints bilaterally, later he developed ocular symptoms, which were attributed to JIA. He had liver, skin, pulmonary manifestations, and diagnostic workup including biopsy revealed granulomatous inflammation of these sites. During the diagnostic workup, he had worsening of ocular complaints, retinal exam showed panuveitis with multifocal choroiditis. These ocular findings are not seen in JIA, this, along with his other systemic manifestations, led us to revisit the diagnosis. Laboratory testing for genetic mutation for Blau syndrome was done and came back positive. Now all of his systemic findings were placed under one umbrella of systemic granulomatous syndrome/Blau syndrome. Due to worsening of ocular manifestations, he was started on Adalimumab with marked improvement of ocular and systemic manifestations and is followed by team that consists of Rheumatologist, Ophthalmologist, and Gastroenterologist.

  7. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop

    OpenAIRE

    Oliveira, Joao B.; Bleesing, Jack J.; Dianzani, Umberto; Fleisher, Thomas A.; Jaffe, Elaine S.; Lenardo, Michael J.; Rieux-Laucat, Frederic; Siegel, Richard M.; Su, Helen C.; Teachey, David T.; Rao, V. Koneti

    2010-01-01

    Lymphadenopathy in children for which no infectious or malignant cause can be ascertained constitutes a challenging diagnostic dilemma. Autoimmune lymphoproliferative syndrome (ALPS) is a human genetic disorder of lymphocyte apoptosis resulting in an accumulation of lymphocytes and childhood onset chronic lymphadenopathy, splenomegaly, multilineage cytopenias, and an increased risk of B-cell lymphoma. In 1999, investigators at the National Institutes of Health (NIH) suggested criteria to esta...

  8. The insulin autoimmune syndrome (IAS) as a cause of hypoglycaemia: an update on the pathophysiology, biochemical investigations and diagnosis.

    Science.gov (United States)

    Ismail, Adel A A

    2016-11-01

    Insulin autoimmune syndrome (IAS) is considered to be very rare in Caucasians. Understanding its pathophysiology is paramount in (a) appreciating its potential impact on analyses of pancreatic hormones and (b) explaining its highly variable clinical manifestations in non-diabetic, non-acutely ill patients with indeterminate hypoglycaemia. The underlying aetiology of IAS is the presence of variable affinity/avidity endogenous insulin antibodies in significant amounts. The two types of insulin antibodies namely antibodies which bind insulin and/or proinsulin(s) and receptor antibodies (insulin mimetic) will be discussed. Their biochemical and immunological roles in causing hypoglycaemia will be highlighted. Clinical manifestations of IAS can vary from mild and transient to spontaneous, severe and protracted hypoglycaemia necessitating in extreme cases plasmapheresis for glycaemic control. Antibodies of IAS can interfere in pancreatic immunoassay tests causing erroneous and potentially misleading results. Thorough testing for endogenous insulin antibodies must be considered in the investigations of non-diabetic, non-acutely ill patients with indeterminate and/or unexplained hypoglycaemia.

  9. Giant Splenorenal Shunt in a Young Patient with Autoimmune Hepatitis/Primary Biliary Cholangitis Overlap Syndrome and Portal Vein Thrombosis

    Directory of Open Access Journals (Sweden)

    F. Chegai

    2017-01-01

    Full Text Available We present a case of giant Splenorenal Shunt (SRS associated with portal vein thrombosis in a 37-year-old woman with a twelve-year history of autoimmune hepatitis/primary biliary cholangitis overlap syndrome. At the moment of the CT examination laboratory tests showed creatinine 1.5 mg/dl, bilirubin 1.5 mg/dl, INR 3, and Na 145 mmol/l and the Model End-Stage Liver Disease score was 24. Extensive calcified thrombosis causing complete occlusion of the portal vein lumen and partially occluding the origin of the superior mesenteric vein was present and a small calcified thrombus in the Splenic Vein lumen was also evident. SRS was located among the spleen hilum and the left kidney with a maximum diameter of 3.25 cm and was associated with dilatation of left renal vein and inferior vena cava. After a multidisciplinary evaluation the patient was put on the Regional Liver Transplant waiting list and liver transplantation was performed successfully. Although portal vein thrombosis and SRS are common occurrences in cirrhotic patients, the impact in the natural history of the disease is still unclear. Careful management and accurate imaging protocols are essential in the evaluation of those patients.

  10. Chronic anconeus compartment syndrome: A case report.

    Science.gov (United States)

    Steinmann, S P; Bishop, A T

    2000-09-01

    Compartment syndrome of the forearm is commonly associated with the volar compartment. We present a case of compartment syndrome of the anconeus muscle. Release of the anconeus muscle fascia provided relief of symptoms.

  11. Clinical analysis of 36 cases of autoimmune pancreatitis in China.

    Directory of Open Access Journals (Sweden)

    Xingang Zhang

    Full Text Available BACKGROUND: To improve the early identification of autoimmune pancreatitis in China by a retrospective analysis of clinical data from AIP patients. METHODOLOGY/PRINCIPAL FINDINGS: The analysis included 36 patients admitted by the surgery department of our hospital from January 2003 to October 2011 whose postoperative pathological confirmations were consistent with the histological criteria of Honolulu Consensus Document. The clinical phenotypes associated with the histopathologic patterns of LPSP and IDCP were referred to as type 1 and type 2 of AIP, respectively. A retrospective analysis of clinical features, serological data, pathological findings and imageological records was performed in line with the subtypes of AIP. Type 1 showing a sex predilection (males was commonly more dominant than type 2 in all AIP. Type 2 without a gender predilection was, on average, a decade younger than type 1. Type 1 was inferior to type 2 in ALT, ALP and γ-GT with statistical significance (P = 0.044, 0.025 and 0.013. Type 1 was inferior to type 2 in AST with difference close to statistical significance (P = 0.072. Histopathology revealed frequent lymphoplasmacytic infiltration with less frequent infiltration of neutrophils, eosinophils and fibroblasts. Diffuse and intensive interstitial fibrosis could be seen. The changes of pancreatic head were more frequently seen in type 2 than in type 1 (P = 0.05. Plasma cells staining of IgG4 at a density of over 30 or more cells per high-power field appeared to be a specific finding in China with type 1. Imageology found a diffusely or focally enlarged pancreas, most frequently a mass or enlargement in the pancreatic head, characteristic capsule-like rim, calcification or pancreatic calculus and cystic degeneration. CONCLUSIONS/SIGNIFICANCE: AIP is a unique type of chronic pancreatitis and has distinctive serological, pathological and imageological characteristics, which should be used for differentiation

  12. Stiff-person syndrome (SPS) and anti-GAD-related CNS degenerations: protean additions to the autoimmune central neuropathies.

    Science.gov (United States)

    Ali, Fatima; Rowley, Merrill; Jayakrishnan, Bindu; Teuber, Suzanne; Gershwin, M Eric; Mackay, Ian R

    2011-09-01

    Stiff Person Syndrome (SPS) is a rare autoimmune neurological disease attributable to autoantibodies to glutamic acid decarboxylase (anti-GAD) more usually associated with the islet beta cell destruction of autoimmune type 1 diabetes (T1D). SPS is characterized by interference in neurons with the synthesis/activity of the inhibitory neurotransmitter gamma amino butyric acid (GABA) resulting in the prototypic progressive spasmodic muscular rigidity of SPS, or diverse neurological syndromes, cerebellar ataxia, intractable epilepsy, myoclonus and several others. Remarkably, a single autoantibody, anti-GAD, can be common to widely different disease expressions, i.e. T1D and SPS. One explanation for these data is the differences in epitope engagement between the anti-GAD reactivity in SPS and T1D: in both diseases, anti-GAD antibody reactivity is predominantly to a conformational epitope region in the PLP- and C-terminal domains of the 65 kDa isoform but, additionally in SPS, there is reactivity to conformational epitope(s) on GAD67, and short linear epitopes in the C-terminal region and at the N-terminus of GAD65. Another explanation for disease expressions in SPS includes ready access of anti-GAD to antigen sites due to immune responsiveness within the CNS itself according to intrathecal anti-GAD-specific B cells and autoantibody. Closer study of the mysterious stiff-person syndrome should enhance the understanding of this disease itself, and autoimmunity in general.

  13. Guillain-Barré Syndrome after Coronary Artery Bypass Graft Surgery: a Case Report.

    Science.gov (United States)

    Hekmat, Manouchehr; Ghaderi, Hamid; Foroughi, Mahnoosh; Mirjafari, S Adeleh

    2016-01-01

    Guillain-Barre syndrome is a neurologic disorder that may appear after infection or major surgery. Guillain-Barré syndrome following cardiac surgery is rare and only based on case reports, and we review all of the published cases. A 52-year-old man after 5 months suffering from chest pain was referred to our hospital and underwent coronary artery bypass graft for 3 vessel disease. The patient was discharged without complication on the 5th postoperative day. He presented Guillain-Barré syndrome after 12 months. He has not completely recovered weakness of upper extremities grade 4/5 with atrophy of both upper extremities remains after 18 months. This disorder is similar to classic GBS. It is important to be alert to de novo autoimmune neurological disorders after cardiac surgery. These disorders are similar to classic autoimmune disease and treated with standard therapies.

  14. Guillain–Barré Syndrome after Coronary Artery Bypass Graft Surgery:a Case Report

    Directory of Open Access Journals (Sweden)

    Manouchehr Hekmat

    2016-01-01

    Full Text Available Guillain-Barre syndrome is a neurologic disorder that may appear after infection or major surgery.  Guillian-Barre syndrome following cardiac surgery is rare and only based on case reports, and we review all of the published cases. A 52-year-old man after 5 months suffering from chest pain was referred to our hospital and underwent coronary artery bypass graft for 3 vessel disease. The patient was discharged without complication on the 5th postoperative day. He presented Guillain- Barre syndrome after 12 months. He has not completely recovered weakness of upper extremities grade 4/5 with atrophy of both upper extremities remains after 18 months. This disorder is similar to classic GBS. It is important to be alert to de novo autoimmune neurological disorders after cardiac surgery. These disorders are similar to classic autoimmune disease and treated with standard therapies.

  15. Eagle syndrome: a case report

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    Nilüfer Ersan

    2016-01-01

    Full Text Available INTRODUCTION: Eagle syndrome, an uncommon sequela of elongation of the styloid process or calcification of the stylohyoid ligament, can manifest as pain in the face and the anterolateral neck, often with referred pain to the ear and the temporomandibular joint area. CASE REPORT: A 43-year-old female patient presented to the Dentomaxillofacial Radiology Department with complaints of unremitting unilateral facial and neck pain, limitation in the movement of the neck, sensation of foreign body in the throat, dysphagia, and otalgia for a year. Systemic anamnesis of the patient was unremarkable. In the clinical examination, digital palpation of the tonsillar fossa aggravated the pain. The patient was being treated for temporomandibular joint disorder. A panoramic radiograph taken after the clinical examination revealed bilateral styloid process elongation. Cone-beam computed tomography also revealed bilateral ossification of the stylohyoid ligament which was measured as 71.5 mm and 69.6 mm on the right and the left side, respectively; and the patient was diagnosed as having Eagle syndrome. The patient was referred to the otolaryngology clinic for surgical treatment. Surgical shortening of the structure provided definitive relief in the patient's symptoms. CONCLUSION: In cases of unexplained complaints in the head and neck region Eagle syndrome should be considered in the differential diagnosis as it may change the treatment approach.

  16. Autoimmune sialadenitis

    NARCIS (Netherlands)

    Guntinas-Lichius, O.; Vissink, A.; Ihrler, S.

    2010-01-01

    Using the European-American classification criteria the diagnosis of autoimmune sialadenitis in Sjogren's syndrome can generally be easily established or excluded. In addition, sonography performed by the ENT physician is helpful in diagnosing and especially in follow-up screening for MALT lymphomas

  17. Sturge-Weber syndrome: a case report

    OpenAIRE

    Luiz Felipe G. dos Santos; Joanna G. da Conceição; Thaís Pimentel de Sá Bahia; Vanessa de A. S. Silva; Maria Eliza Barbosa Ramos; Mônica Israel

    2011-01-01

    Introduction: The Sturge-Weber Syndrome, also known as encephalotrigeminal angiomatosis, is a rare vascular neurocutaneous alteration. The main clinical features of this syndrome are facial vascular cutaneous naevus, usually unilateral, which often follows the outline distribution of trigeminal nerve. Objective: To report a clinical case of Sturge-Weber Syndrome in a 29-yeral-old male patient who presented oral manifestations related to the syndrome. Case report and conclusion: The patient re...

  18. Weber-Christian panniculitis and auto-immune disease: a case report.

    Science.gov (United States)

    Allen-Mersh, T G

    1976-02-01

    A case is described of Weber-Christian panniculitis accompanied by a gammaglobulin disturbance which preceded by five years the diagnosis of an autoimmune hepatitis and pancytopenia. Also associated was the onset of diabetes mellitus, found at necropsy to be related to pancreatic islet amyloid deposition. This case reinforces the view that Weber-Christian panniculitis may be an adipose response to a variety of immunological stimuli.

  19. Gitelman Syndrome: A Case Report

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    F Tabatabaei

    2012-10-01

    Full Text Available Background: Gitelman syndrome is a rare autosomal recessive disorder that typically presents with recurrent muscle cramps, carpopedal spasms, hypokalemic metabolic alkalosis, hypocalciuria and hypomagnesemia and high urine magnesium during adolescence. Mutation in the gene encoding for sodium chloride co-transporter in distal convoluted tubule causes electrolyte imbalance.Case presentation: We present a 10-year-old boy complaining of carpopedal spasms, tingling of fingers and facial parestesia for three years prior to his admission in endocrinology clinic of H. Ali-Asghar Pediatric Hospital. The patient had metabolic alkalosis, hypokalemia, hypocalciuria, increased urine fraction excretion of Mg, serum magnesium of 1.8 mg/dl, normal serum calcium and phosphorus and normal blood pressure. His clinical manifestations recovered after potassium and magnesium administration.Conclusion: A patient with Gitelman syndrome with normal serum Mg. is presented.

  20. Autoimmune diseases in parents of children with infantile autism: a case-control study

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben;

    2007-01-01

    This register study compared the rates and types of autoimmune disease in the parents of 111 patients (82 males, 29 females; mean age at diagnosis 5y 5mo [SD 2y 6mo]) with infantile autism (IA) with a matched control group of parents of 330 children from the general population. All parents were s...... colitis in mothers (p=0.05) and type 1 diabetes in fathers (p=0.02). Additional studies are required to determine whether there is a true association between a parental history of autoimmune disease and pervasive developmental disorder in their offspring.......This register study compared the rates and types of autoimmune disease in the parents of 111 patients (82 males, 29 females; mean age at diagnosis 5y 5mo [SD 2y 6mo]) with infantile autism (IA) with a matched control group of parents of 330 children from the general population. All parents were...... screened through the nationwide Danish National Hospital Register. We inquired about 35 autoimmune diseases during an observation period of 27 years. At follow-up the case and control mothers were identical in age (65y 7mo [SDs 9y 7mo and 9y respectively]). For case and control fathers the figures were 70...

  1. A case of autoimmune hemolytic anemia associated with an ovarian teratoma.

    Science.gov (United States)

    Kim, Ickkeun; Lee, Jue Yong; Kwon, Jung Hye; Jung, Joo Young; Song, Hun Ho; Park, Young Iee; Ro, Eusun; Choi, Kyung Chan

    2006-04-01

    Autoimmune hemolytic anemia associated with an ovarian teratoma is a very rare disease. However, treating teratoma is the only method to cure the hemolytic anemia, so it is necessary to include ovarian teratoma in the differential diagnosis of autoimmune hemolytic anemia. We report herein on a case of a young adult patient who had severe autoimmune hemolytic anemia that was induced by an ovarian teratoma. A 25-yr-old woman complained of general weakness and dizziness for 1 week. The hemoglobin level was 4.2 g/dL, and the direct and indirect antiglobulin tests were all positive. The abdominal computed tomography scan revealed a huge left ovarian mass, and this indicated a teratoma. She was refractory to corticosteroid therapy; however, after surgical resection of the ovarian mass, the hemoglobin level and the reticulocyte count were gradually normalized. The mass was well encapsulated and contained hair and teeth. She was diagnosed as having autoimmune hemolytic anemia associated with an ovarian teratoma. To the best of our knowledge, this is the first such a case to be reported in Korea.

  2. Metamorphic thyroid autoimmunity in Down Syndrome: from Hashimoto's thyroiditis to Graves' disease and beyond.

    Science.gov (United States)

    Aversa, Tommaso; Valenzise, Mariella; Salerno, Mariacarolina; Corrias, Andrea; Iughetti, Lorenzo; Radetti, Giorgio; De Luca, Filippo; Wasniewska, Malgorzata

    2015-11-11

    It is known that Hashimoto's thyroiditis (HT) may progress to Graves' disease (GD) and that this phenomenon may be more frequent in the patients with Down syndrome (DS). To shed light on the relationships between Down syndrome (DS) and metamorphic thyroid autoimmunity. We reconstructed the conversion process from HT to GD in 12 DS children. All the data recorded at HT diagnosis and throughout the time interval from entry to GD presentation were retrospectively taken from patients' files, as well as those recorded at GD diagnosis and during the subsequent evolution. From GD diagnosis all patients underwent methimazole treatment, at a dose that was adjusted on the basis of clinical findings and thyroid tests. Time interval between HT and GD was not different in the seven patients who received during that time a L-thyroxine (L-T4) treatment than in those who were not treated. After methimazole onset all patients exhibited a prolonged remission of hyperthyroidism. In 8/12 patients this treatment is still being continued 2-7 years after its initiation. The mean methimazole dosage needed to maintain euthyroidism in these eight patients was 0.12 ± 0.02 mg/kg/day. In the remaining four patients methimazole was withdrawn from 1.9 to 7 years after its initiation and no relapses were recorded 2.0-2.1 years after its withdrawal. These patients developed, 0.1-0.3 years after methimazole withdrawal, a picture of overt hypothyroidism and needed treatment with L-T4, that is now being continued. No patients needed non-pharmacological therapies. 1) DS children might be incline to manifest over time a phenotypic metamorphosis from HT to GD and to subsequently fluctuate from hyperthyroidism to hypothyroidism; 2) in DS GD may have a mild biochemical and clinical course.

  3. Six year old with autoimmune polyglandular syndrome: can genetics tell us the story?

    Science.gov (United States)

    Ghanny, Steven; Wallerstein, Robert; Chartoff, Amy; Post, Janet; Aisenberg, Javier; Auyeung, Valerie

    2010-07-01

    Children who have diabetes mellitus type 1 (DMT1) are at increased risk of developing other autoimmune diseases. These associated diseases include Hashimoto's thyroiditis, Graves' disease, Celiac disease, and Addison's disease. Since Addison's disease is potentially fatal if undiagnosed and untreated, it would be prudent to effectively screen individuals to determine if they are at risk of developing this disease. We present a case of a 6 year old male with a history of DMT1, who presented in adrenal crisis and was subsequently diagnosed with Addison's disease. HLA-DRB1 404/DR4 is one of the genes involved in the development of Addison's disease in children with DMT1. Our patient later tested positive for this haplotype. Genetic testing is not routinely done in patients with (DMT1) to determine if they will potentially develop other associated conditions. We propose using genetic testing of associated HLA haplotypes to screen children with DMT1 for Addison's disease.

  4. Fibromatosis of the hand associated with EMO syndrome: A Case report

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    Altmeyer Peter

    2004-11-01

    Full Text Available Abstract Background EMO syndrome, defined as a triad including exophthalmus, pretibial myxedema and osteoarthropathia, is a rare condition in patients suffering from hyperthyreosis. Case presentation We here describe an interesting case of EMO syndrome associated with unilateral fibromatosis of the hand and an initial stage of generalized myxedema of the skin. To our knowledge a similar case has not yet been described in literature though reports about associated fibromatosis, e.g. located retroperitoneally, already exist. Familiar explanations include its initiation by autoimmune processes or aberrant T-cell cytokine stimulation leading to an overwhelming production of glycosaminoglycans. Conclusion Interpreting our case in context with previous reports we conclude that associated fibromatosis induced by autoimmune processes may affect a variety of different localizations and therefore requires careful monitoring. A therapeutical attempt by using UVA1 irridation for pretibial myxedema remained without a satisfying regression.

  5. Poland syndrome with dextrocardia: case report.

    Science.gov (United States)

    Galiwango, G W; Swan, M C; Nyende, R; Hodges, A M

    2010-11-01

    Poland syndrome is a rare congenital condition presentingwith typical features including an absent costosternal head of pectoralis major andipsilateral brachysyndactyly. There are many clinical variations of the syndrome including rib defects, absence of shoulder girdle muscle and breast hypoplasia or agenesis. Dextrocardia is rarely associated with Poland Syndrome with only 22 cases being previously reported in the worldwide literature. Whereas 'classical' Poland syndrome is predominantly right sided, all cases associated with dextrocardia have been left sided. We report a further case of left sided Poland syndrome with dextrocardia which might have important implications for the understanding of the pathogenesis of this unusual condition.

  6. Tryptase-PAR2 axis in experimental autoimmune prostatitis, a model for chronic pelvic pain syndrome.

    Science.gov (United States)

    Roman, Kenny; Done, Joseph D; Schaeffer, Anthony J; Murphy, Stephen F; Thumbikat, Praveen

    2014-07-01

    Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) affects up to 15% of the male population and is characterized by pelvic pain. Mast cells are implicated in the murine experimental autoimmune prostatitis (EAP) model as key to chronic pelvic pain development. The mast cell mediator tryptase-β and its cognate receptor protease-activated receptor 2 (PAR2) are involved in mediating pain in other visceral disease models. Prostatic secretions and urines from CP/CPPS patients were examined for the presence of mast cell degranulation products. Tryptase-β and PAR2 expression were examined in murine EAP. Pelvic pain and inflammation were assessed in the presence or absence of PAR2 expression and upon PAR2 neutralization. Tryptase-β and carboxypeptidase A3 were elevated in CP/CPPS compared to healthy volunteers. Tryptase-β was capable of inducing pelvic pain and was increased in EAP along with its receptor PAR2. PAR2 was required for the development of chronic pelvic pain in EAP. PAR2 signaling in dorsal root ganglia led to extracellular signal-regulated kinase (ERK)1/2 phosphorylation and calcium influx. PAR2 neutralization using antibodies attenuated chronic pelvic pain in EAP. The tryptase-PAR2 axis is an important mediator of pelvic pain in EAP and may play a role in the pathogenesis of CP/CPPS.

  7. Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.

    Science.gov (United States)

    Völkl, Simon; Rensing-Ehl, Anne; Allgäuer, Andrea; Schreiner, Elisabeth; Lorenz, Myriam Ricarda; Rohr, Jan; Klemann, Christian; Fuchs, Ilka; Schuster, Volker; von Bueren, André O; Naumann-Bartsch, Nora; Gambineri, Eleonora; Siepermann, Kathrin; Kobbe, Robin; Nathrath, Michaela; Arkwright, Peter D; Miano, Maurizio; Stachel, Klaus-Daniel; Metzler, Markus; Schwarz, Klaus; Kremer, Anita N; Speckmann, Carsten; Ehl, Stephan; Mackensen, Andreas

    2016-07-14

    Autoimmune lymphoproliferative syndrome (ALPS) is a human disorder characterized by defective Fas signaling, resulting in chronic benign lymphoproliferation and accumulation of TCRαβ(+) CD4(-) CD8(-) double-negative T (DNT) cells. Although their phenotype resembles that of terminally differentiated or exhausted T cells, lack of KLRG1, high eomesodermin, and marginal T-bet expression point instead to a long-lived memory state with potent proliferative capacity. Here we show that despite their terminally differentiated phenotype, human ALPS DNT cells exhibit substantial mitotic activity in vivo. Notably, hyperproliferation of ALPS DNT cells is associated with increased basal and activation-induced phosphorylation of serine-threonine kinases Akt and mechanistic target of rapamycin (mTOR). The mTOR inhibitor rapamycin abrogated survival and proliferation of ALPS DNT cells, but not of CD4(+) or CD8(+) T cells in vitro. In vivo, mTOR inhibition reduced proliferation and abnormal differentiation by DNT cells. Importantly, increased mitotic activity and hyperactive mTOR signaling was also observed in recently defined CD4(+) or CD8(+) precursor DNT cells, and mTOR inhibition specifically reduced these cells in vivo, indicating abnormal programming of Fas-deficient T cells before the DNT stage. Thus, our results identify the mTOR pathway as a major regulator of lymphoproliferation and aberrant differentiation in ALPS.

  8. A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats.

    Science.gov (United States)

    Aberdein, Danielle; Munday, John S; Gandolfi, Barbara; Dittmer, Keren E; Malik, Richard; Garrick, Dorian J; Lyons, Leslie A

    2017-02-01

    British shorthair (BSH) kittens in multiple litters died as a result of a severe non-neoplastic lymphoproliferative disease that showed many similarities with human autoimmune lymphoproliferative syndrome (ALPS). Human ALPS is caused by inherited defects in FAS-mediated lymphocyte apoptosis and the possibility of similar defects was investigated in BSH cats. The whole genomes of two affected kittens were sequenced and compared to 82 existing cat genomes. Both BSH kittens had homozygous insertions of an adenine within exon 3 of the FAS-ligand gene. The resultant frameshift and premature stop codon were predicted to result in a severely truncated protein that is unlikely to be able to activate FAS. Three additional affected BSH kittens were homozygous for the variant, while 11 of 16 unaffected, but closely related, BSH cats were heterozygous for the variant. All BSH cats in the study were from a population with significant inbreeding. The variant was not identified in a further survey of 510 non-BSH cats. Identification of a genetic defect in the FAS-mediated apoptosis pathway confirms that the lymphoproliferative disease in BSH cats fulfills the diagnostic criteria for ALPS in humans. These results will enable the development of a genetic test to detect BSH carrier animals.

  9. Relationship between autoantibodies combination, metabolic syndrome components and diabetic complications in autoimmune diabetes in adults.

    Science.gov (United States)

    Blaslov, Kristina; Bulum, Tomislav; Knežević-Ćuća, Jadranka; Duvnjak, Lea

    2015-03-01

    The aim of our study was to establish the possible association between double or triple antibody positivity and latent autoimmune diabetes (LADA) phenotype in the context of metabolic syndrome (MS) prevalence and its individual components. This cross-sectional study population comprised 69 islet cell antibody-positive patients coming for their comprehensive annual review. They were divided into three groups according to antibody positivity. Twenty-five (36.2 %) were male, mean age of 51 years with disease duration of 8 years. Twenty-eight (40.58 %) were positive only for GAD Abs, 26 (37.68 %) were positive for ICA and GAD Abs and 15 (21.74 %) were positive for GAD, ICA, and IA2 Abs. The lowest value of waist circumference, MS, and artherial hypertension prevalence was found in the group positive for all three antibodies. In the multinomial multivariate logistic regression model, MS was negatively associated with triple Abs positivity compared to single Ab positivity and double Abs positivity. Our results highlight the importance of inverse association between simultaneous Abs positivity for ICA, GAD, and IA2 with the MS and its components present in LADA patients. This inverse relationship might implicate that LADA patients are phenotypically closer to T1DM. The contribution of IA2 Ab positivity merits is to be considered in the determination of LADA phenotypes, while its diagnostic value needs to be clarified in future follow-up studies.

  10. Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation.

    Science.gov (United States)

    Martínez-Feito, Ana; Melero, Josefa; Mora-Díaz, Sergio; Rodríguez-Vigil, Carmen; Elduayen, Ramón; González-Granado, Luis I; Pérez-Méndez, Dolores; Sánchez-Zapardiel, Elena; Ruiz-García, Raquel; Menchén, Miguela; Díaz-Madroñero, Josefa; Paz-Artal, Estela; Del Orbe-Barreto, Rafael; Riñón, Marta; Allende, Luis M

    2016-01-01

    Autoimmune lymphoproliferative syndrome (ALPS) is a primary immunodeficiency caused by impaired Fas/FasL-mediated apoptosis of lymphocytes and is characterized by chronic nonmalignant or benign lymphoproliferation, autoimmune manifestations and expansion of double negative (DN) T-cells (TCRαβ+CD4-CD8-). Most cases of ALPS are associated with germline (ALPS-FAS) or somatic (ALPS-sFAS) heterozygous FAS mutations or a combination of both. Here we report three unrelated patients with ALPS-sFAS. Only one of them showed impaired Fas function in PHA-activated T-cells. In this patient, the genetic analysis of the caspase-10 gene (CASP10) identified a heterozygous germline change in exon 9 (c.1337A>G) causing Y446C substitution in the caspase-10 protein. In addition, this patient had a dysregulated T- and B-cell phenotype; circulating lymphocytes showed expansion of T effector memory CD45RA+ (TEMRA) CD4 T-cells, effector memory CD8 T-cells, CD21(low) B-cells and reduced memory switched B-cells. Additionally, this patient showed altered expression in T-cells of several molecules that change during differentiation from naïve to effector cells (CD27, CD95, CD57 and perforin). Molecular alterations in genes of the Fas pathway are necessary for the development of ALPS and this syndrome could be influenced by the concurrent effect of other mutations hitting different genes involved in Fas or related pathways.

  11. A CASE OF FAHR'S SYNDROME

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    Ishan

    2015-08-01

    Full Text Available Fahr's disease , also known as familial cerebral ferrocalcinosis disorder characterized by abnormal calcium deposition the disease was first noted by German neurologist. Karl Theodre Fahr . [1] in 1930 It is a rare genetically . [2] dominant neurological disorder with less than 20 families had been reported . We present a case of a 50 year old Male a resident of Akurli , New panvel , Raigad with history of trauma 12 years back and history of loss of consciousness on two occasions with an interval of four years each to trauma , no other significant history of metabolic disease , infection or toxic diseases . KEYWORDS: Fahr's Syndrome .

  12. Case of acute hepatitis E with concomitant signs of autoimmunity

    OpenAIRE

    Vieira, Catarina Lima; Baldaia, Cilénia; Fatela, Narcisa; Ramalho,Fernando; Cardoso, Carlos

    2013-01-01

    Sporadic cases of acute viral hepatitis E have been described in developed countries, despite the more common occurrence in endemic areas and developing countries. We present the case of a 58 years old Portuguese female, with no epidemiological relevant factors, admitted with acute hepatitis with positive anti-nuclear antibodies, anti-smooth muscle antibody and high serum gamma globulin (> 1.5 fold increase). Serologies for hepatitis A virus, hepatitis B virus, hepatitis C virus, Epstein-Barr...

  13. Anetoderma: Is It a Sign of Autoimmunity?

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    Hessa Al Buainain

    2009-12-01

    Full Text Available Anetoderma is a rare elastolytic disorder characterized by circumscribed areas of flaccid skin due to the loss of elastic tissue in the dermis. Primary anetoderma is frequently observed in patients with autoimmune diseases or abnormalities especially with antiphospholipid antibodies with or without antiphospholipid syndrome. In this case report we discuss a patient with primary anetoderma with positive antithyroid peroxidase antibodies, which is consistent with autoimmune thyroiditis.

  14. Autoimmune hepatitis.

    Science.gov (United States)

    Strassburg, Christian P

    2010-10-01

    Autoimmune hepatitis is a chronic inflammatory disease of the liver with a dismal prognosis when left untreated. Key for the improvement of prognosis is a timely diagnosis before cirrhosis has developed. This is reached by the exclusion of other causes of hepatitis, elevated immunoglobulin G, autoantibody profile and histological assessment. Treatment achieves remission rates in 80% of individuals and consists of immunosuppression with corticosteroids and azathioprine. A recent randomised controlled multicenter trial has added budesonide to the effective treatment options in non-cirrhotic patients and leads to a reduction of unwanted steroid side effects. Autoimmune hepatitis is an autoimmune disease of unknown aetiology. Association studies of major histocompatibility complex and other genes demonstrate an influence of immunogenetics. However, apart from the autoimmune polyglandular syndrome type 1, in which 10% of patients suffer from an autoantibody-positive autoimmune hepatitis linked to mutations of the autoimmune regulator gene, there is no clear evidence for a hereditary aetiology of this disease. Copyright © 2010 Elsevier Ltd. All rights reserved.

  15. Digeorge syndrome: A case report

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    Popović-Deušić Smiljka

    2011-01-01

    Full Text Available Introduction. DiGeorge syndrome is a genetic disorder caused by deletion of chromosome 22. The main features are congenital heart disease, absence or hypoplasia of thymus (with consecutive immunodeficiency and infections, hypoparathyroidism with consecutive hypocalcaemia, gastrointestinal problems, Delayed psychomotor development, abnormalities of head and face, tendency to develop seizures and psychiatric disorders. Syndrome can be detected prenatally, or during early development, which is of great importance for preventive and therapeutic measures. Death rate is high during the first year of life, mostly because of congenital heart disease. With prompt diagnosis and treatment most of the children can survive to adulthood, but they are children with special needs requiring continual care and supervision (because of metal retardation, seizures, neurological and psychiatric disorders. Case Outline. A seven-year-old boy underwent surgical correction of congenital heart disease soon after the birth. Since the age of four years he developed seizures, partially controlled by antiepileptic therapy. Entering the seventh year of age he displayed severe auto and heteroaggressive behaviour. His condition has improved by the introduction of intensive psychiatric and defectological treatment, and daily counselling with his mother the child improved in the sense of calming down, better social communication and acquiring some self-help specific skills. Conclusion. Symptoms of DiGeorge syndrome can be detected soon after the birth, especially that concerning congenital hearth disease. A prompt diagnosis and surgical intervention can save the child’s life. Because of many other symptoms, many diagnostic procedures focused on this syndrome are to be performed, followed by long lasting stimulative treatment and treatment of seizures and psychiatric disorders.

  16. Uveal effusion syndrome (clinical case

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    Yu. A. Belyy

    2015-01-01

    Full Text Available The purpose — to evaluate the effectiveness of the posterior sclerectomy with the corneal trepan in a uveal effusion syndrome.Patients and methods. Patient 1. The man, 61 years, complained about a blindness of the right eye and the progressing decrease in vision of the left eye. According to data of examinations the diagnosis was: uveal effusion syndrome, detachment of the choroid, exudative retinal detachment, the complicated cataract of both eyes. Patient 2. The man, 62 years, with complaints to low vision of the right eye and a blindness of the left-hand eye. Diagnosis: uveal effusion syndrome, detachment of the choroid, exudative retinal detachment, the initial complicated cataract of the right eye. Subatrophy operated retinal detachment, complicated cataract, silicone into the vitreal cavity of the left eye. Both patients underwent trepanation posterior sclera. Results. The patient 1noted significant improvement of vision in both eyes at the last examination. Мisual acuity with correction was OD — 0,2, OS — 0.3. Intraocular pressure was normal, improvement of electrical sensitivity and lability was diagnosed. On ultrasound examination of the retina belonged, moderate swelling of the choroid remained. Patient 2. Visual acuity was 0,1 + 3,0 D at the time of the last inspection. According to the ultrasonic B-scan of the right eye retinal detachment decreased to 3,8 mm, moderate swelling of the choroid remained. The OСT has showed detachment of the neuroepithelium in the macula to 60 μm. In ultrasonic biomicroscopy circular, ciliochoroidal detachment to 0,15 mm was diagnised.Conclusion. Described clinical cases confirmed the almost complete recovery of patients with the uveal effusion syndrome. Sclerectomy with the use of corneal trepan is a technically simple procedure and helps to define the path of the outflow suprachoroidal fluid subtenon space.

  17. Antiphospholipid Syndrome: primary or secondary to Systemic Lupus Erythematosus? Description of a clinical case of avitaminosis D in premenopausal woman with pseudo-Cushing syndrome

    OpenAIRE

    2014-01-01

    Low vitamin D levels have been described in obese individuals and in some autoimmune diseases, such as Systemic Lupus Erythematosus (SLE) and primary antiphospholipid syndrome (pAPS). In particular, more than 50% of premenopausal women with pAPS have hypovitaminosis D. In this issue we report a case of an obese, premenopausal, and hypertensive woman with pseudo-Cushing syndrome, affected by deep venous thrombosis associated with pulmonary embolism after rib fracture who presented hypovitamino...

  18. Harlequin Syndrome in a Case of Toxic Goitre: A Rare Association

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    P. V. Pradeep

    2011-01-01

    Full Text Available Harlequin syndrome (HS is known to be associated with conditions like brain stem infarcts and superior mediastinal neurinoma. However, it has not been reported in association with autoimmune hyperthyroidism. We report a case of exacerbation of unilateral sweating in a patient with HS following the onset of toxic goitre. Previous reports have suggested that a tortuous inferior thyroid artery can produce neurovascular compression of the sympathetic chain which was not observed in our patient. Autoimmune aetiology for HS needs to be explored. Increased sweating in hyperthyroid patients needs to be assessed properly so as to prognosticate appropriately.

  19. Autoimmune Hepatitis and Celiac Disease: Case Report Showing an Entero-Hepatic Link

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    Francesco Tovoli

    2010-10-01

    Full Text Available Celiac disease is an autoimmune disorder primarily targeting the small bowel, although extraintestinal extensions have been reported. The autoimmune processes can affect the liver with manifestations such as primary biliary cirrhosis and autoimmune hepatitis. We describe a 61-year-old woman with celiac disease and an increased levels of aminotransferases. The persistence of increased levels of aminotransferases after 1 year of gluten-free diet and the positivity for an anti-nuclear and anti-double-strand DNA antibodies led to a misdiagnosis of systemic lupus erythematosus-related hepatitis. Based on these findings the patient was placed on steroids, which after a few months were stopped because of the onset of diabetes mellitus. Soon after steroid withdrawal, the patient had a marked increase in aminotransferases and γ-globulins, and a liver biopsy revealed chronic active hepatitis. A course of three months of steroids and azathioprine normalized both biochemical and clinical parameters. Currently the patient is symptom-free and doing well. In conclusion, a hypertransaminasemia persisting after a gluten-free diet should be interpreted as a sign of coexisting autoimmune liver disease. Any autoantibody positivity (in this case to ANA and anti-dsDNA should be carefully considered in order to avoid misdiagnosis delaying appropriate clinical management.

  20. ANTISYNTHETASE SYNDROME IS THE MOST SEVERE SUBTYPE OF POLYMYOSITIS/DERMATOMYOSITIS:DESCRIPTION OF CASES

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    Olga Alekseyevna Antelava

    2009-01-01

    Full Text Available Polymyositis (PM and dermatomyositis (DM are autoimmune skeletal muscle diseases of unknown etiology, which are referred to as systemic connective tissue diseases and united under the common term Tidiopathic inflammatory myopathiesy. The most severe subtype of PM/DM is the antisynthetase syndrome that is characterized by a certain sympathocomplex, including interstitial lung lesion that is one of the most common visceral changes. Of interest are the specific features of the antisynthetase syndrome, its onset, the course and pulmonary manifestations of fibrosing alveolitis, unlike the classical course of PM/DM. Two clinical cases of the antisynthetase syndrome are given.

  1. Complications of Evans' syndrome in an infant with hereditary spherocytosis: a case report

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    Kuwana Masataka

    2009-09-01

    Full Text Available Abstract Hereditary spherocytosis (HS is a genetic disorder of the red blood cell membrane clinically characterized by anemia, jaundice and splenomegaly. Evans' syndrome is a clinical syndrome characterized by autoimmune hemolytic anemia (AIHA accompanied by immune thrombocytopenic purpura (ITP. It results from a malfunction of the immune system that produces multiple autoantibodies targeting at least red blood cells and platelets. HS and Evans' syndrome have different mechanisms of pathophysiology one another. We reported the quite rare case of an infant who had these diseases concurrently. Possible explanations of the unexpected complication are discussed.

  2. Neuroleptic malignant syndrome (a case report.

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    Patkar A

    1991-07-01

    Full Text Available An adult schizophrenic patient developed neuroleptic malignant syndrome following treatment with parenteral haloperidol. An early recognition of the syndrome, immediate discontinuation of the offending agent and prompt treatment with bromocriptine and lorazepam produced a good recovery. The various features of the case are discussed in view of the potential lethality of the syndrome.

  3. [Meckel Gruber syndrome: about a rare case].

    Science.gov (United States)

    Itchimouh, Sanaa; Khabtou, Karima; Mahdaoui, Sakher; Boufettal, Houssine; Samouh, Naima

    2016-01-01

    Meckel Gruber syndrome is a rare autosomal recessive polymalformation syndrome characterized by occipital encephalocele, polydactyly and cystic renal dysplasia. Ultrasound is, at present, the best tool for prenatal screening of this lethal polymalformation and diagnosys is confirmed by karyotyping. We here report a case of Meckel Gruber syndrome detected by ultrasound. Abortion was performed at 25 weeks of amenorrhoea.

  4. Autoimmune hemolytic anemia after nivolumab treatment in Hodgkin lymphoma responsive to immunosuppressive treatment. A case report.

    Science.gov (United States)

    Tardy, Magalie P; Gastaud, Lauris; Boscagli, Annick; Peyrade, Frederic; Gallamini, Andrea; Thyss, Antoine

    2016-08-19

    The patients with refractory Hodgkin lymphoma have a poor prognosis. The nivolumab, an IgG4 monoclonal antibody inhibiting the program death 1 pathway has recently demonstrated its efficacy and its safety in patients with heavily pretreated refractory Hodgkin lymphoma. The side effects of this immunotherapy include autoimmune-like syndromes. A 75-year-old woman with no significant comorbidities was treated by nivolumab (3 mg/kg every 2 wk) as a third-line treatment for refractory Hodgkin lymphoma. A clinical response was observed with the first injection of nivolumab, with a reduction in superficial lymph nodes. After the second injection, the patient presented an authentic autoimmune hemolytic anemia with a profound anemia at 64 g/L and biologic characteristics of hemolysis (elevated unconjugated bilirubin, lactate dehydrogenase, and reticulocytes). The direct antiglobulin test was strongly positive for IgG antibodies, and the indirect antiglobulin test became positive with a very high level of autoantibodies. After 2 injections of nivolumab, the patient underwent a fluodeoxyglucose F 18 positron emission tomography-computed tomography, showing a partial response according to modified Cheson criteria. A treatment with prednisone (2 mg/kg), initiated after transfusion of 2 units of red blood cells, permitted the complete resolution of this autoimmune reaction after 3 months of corticotherapy. The fluodeoxyglucose F 18 positron emission tomography-computed tomography performed at the end of the corticotherapy showed a clear disease progression. Considering the very good response achieved after only 2 injections of nivolumab, the limited therapeutic resources for this old woman, and the complete resolution of the autoimmune hemolytic anemia, nivolumab was reintroduced at the same dose, with close clinical and biological monitoring. She received 6 more injections of nivolumab without recurrence of hemolysis.

  5. Postural Orthostatic Tachycardia With Chronic Fatigue After HPV Vaccination as Part of the “Autoimmune/Auto-inflammatory Syndrome Induced by Adjuvants”

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    Lucija Tomljenovic PhD

    2014-03-01

    Full Text Available We report the case of a 14-year-old girl who developed postural orthostatic tachycardia syndrome (POTS with chronic fatigue 2 months following Gardasil vaccination. The patient suffered from persistent headaches, dizziness, recurrent syncope, poor motor coordination, weakness, fatigue, myalgias, numbness, tachycardia, dyspnea, visual disturbances, phonophobia, cognitive impairment, insomnia, gastrointestinal disturbances, and a weight loss of 20 pounds. The psychiatric evaluation ruled out the possibility that her symptoms were psychogenic or related to anxiety disorders. Furthermore, the patient tested positive for ANA (1:1280, lupus anticoagulant, and antiphospholipid. On clinical examination she presented livedo reticularis and was diagnosed with Raynaud’s syndrome. This case fulfills the criteria for the autoimmune/auto-inflammatory syndrome induced by adjuvants (ASIA. Because human papillomavirus vaccination is universally recommended to teenagers and because POTS frequently results in long-term disabilities (as was the case in our patient, a thorough follow-up of patients who present with relevant complaints after vaccination is strongly recommended.

  6. Laugier-Hunziker syndrome - Case report*

    Science.gov (United States)

    Lalosevic, Jovan; Zivanovic, Dubravka; Skiljevic, Dusan; Medenica, Ljiljana

    2015-01-01

    Laugier-Hunziker syndrome is a rare, acquired disorder characterized by lenticular hyperpigmentation of the oral mucosa and longitudinal melanonychia. We present the case of a 63-year-old female with progressive, asymptomatic hyperpigmentation of buccal mucosa and a 7-year history of hyperpigmentation in several fingernails. Laugier-Hunziker syndrome was diagnosed based on the clinical features presented, dermoscopic findings and exclusion of underlying systemic diseases. Laugier-Hunziker syndrome is regarded as a diagnosis of exclusion. By identifying Laugier-Hunziker syndrome, other, more severe syndromes associated with hyperpigmentations can be excluded, namely Addison’s disease and Peutz-Jeghers syndrome. PMID:26312723

  7. Laugier-Hunziker syndrome--Case report.

    Science.gov (United States)

    Lalosevic, Jovan; Zivanovic, Dubravka; Skiljevic, Dusan; Medenica, Ljiljana

    2015-01-01

    Laugier-Hunziker syndrome is a rare, acquired disorder characterized by lenticular hyperpigmentation of the oral mucosa and longitudinal melanonychia. We present the case of a 63-year-old female with progressive, asymptomatic hyperpigmentation of buccal mucosa and a 7-year history of hyperpigmentation in several fingernails. Laugier-Hunziker syndrome was diagnosed based on the clinical features presented, dermoscopic findings and exclusion of underlying systemic diseases. Laugier-Hunziker syndrome is regarded as a diagnosis of exclusion. By identifying Laugier-Hunziker syndrome, other, more severe syndromes associated with hyperpigmentations can be excluded, namely Addison's disease and Peutz-Jeghers syndrome.

  8. Successful treatment of life-threatening Evans syndrome due to antiphospholipid antibody syndrome by rituximab-based regimen: a case with long-term follow-up.

    Science.gov (United States)

    Rückert, A; Glimm, H; Lübbert, M; Grüllich, C

    2008-08-01

    An association of antiphospholipid antibody syndrome with antibodies directed against either phospholipids or plasma proteins strongly suggest that B-cell dysfunction may be involved in its pathogenesis. Antiphospholipid antibody syndrome with autoimmune cytopenias shows a poor response rate to conventional treatment with anticoagulants, glucocorticosteroids, immunosuppressive agents, intravenous immunoglobulin or plasmapheresis. We report a case of life-threatening antiphospholipid antibody syndrome with Evans syndrome receiving successful multimodal treatment including anti-CD20 monoclonal antibody rituximab with long-term follow-up.

  9. Autoimmune pancreatitis

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    Davorin Dajčman

    2007-05-01

    Full Text Available Background: Autoimmune pancreatitis is a recently described type of pancreatitis of presumed autoimmune etiology. Autoimmune pancreatitis is often misdiagnosed as pancreatic cancer difficult, since their clinical presentations are often similar. The concept of autoimmune pancreatitis was first published in 1961. Since then, autoimmune pancreatitis has often been treated not as an independent clinical entity but rather as a manifestation of systemic disease. The overall prevalence and incidence of the disease have yet to be determined, but three series have reported the prevalence as between 5 and 6 % of all patients with chronic pancreatitis. Patient vary widely in age, but most are older than 50 years. Patients with autoimmune pancreatitis usually complain of the painless jaundice, mild abdominal pain and weight loss. There is no laboratory hallmark of the disease, even if cholestatic profiles of liver dysfunction with only mild elevation of amylase and lipase levels have been reported.Conclusions: Proposed diagnostic criteria contains: (1 radiologic imaging, diffuse enlargement of the pancreas and diffusely irregular narrowing of the main pancreatic duct, (2 laboratory data, elevated levels of serum ã-globulin and/or IgG, specially IgG4, or the presence of autoantibodies and (3 histopathologic examination, fibrotic change with dense lymphoplasmacytic infiltration in the pancreas. For correct diagnosis of autoimmune pancreatitis, criterion 1 must be present with criterion 2 and/or 3. Autoimmune pancreatitis is frequently associated with rheumatoid arthritis, Sjogren’s syndrome, inflammatory bowel disease, tubulointersticial nephritis, primary sclerosing cholangitis and idiopathic retroperitoneal fibrosis. Pancreatic biopsy using an endoscopic ultrasound-guided fine needle aspiration biopsy is the most important diagnostic method today. Treatment with corticosteroids leads to the and resolution of pancreatic inflamation, obstruction and

  10. Therapeutic apheresis in autoimmune diseases

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    Bambauer R

    2013-11-01

    Full Text Available Rolf Bambauer,1 Reinhard Latza,2 Carolin Bambauer,3 Daniel Burgard,4 Ralf Schiel5 1Institute for Blood Purification, Homburg, 2Laboratorium of Medicine, St Ingbert, 3Main Hospital Darmstadt, Darmstadt, 4Herz Zentrum, Cardiology, Völklingen, 5Inselklinik Heringsdorf GmbH, Seeheilbad Heringsdorf, Germany Abstract: Systemic autoimmune diseases based on an immune pathogenesis produce autoantibodies and circulating immune complexes, which cause inflammation in the tissues of various organs. In most cases, these diseases have a bad prognosis without treatment. Therapeutic apheresis in combination with immunosuppressive therapies has led to a steady increase in survival rates over the last 35 years. Here we provide an overview of the most important pathogenic aspects indicating that therapeutic apheresis can be a supportive therapy in some systemic autoimmune diseases, such as systemic lupus erythematosus, antiphospholipid syndrome, rheumatoid arthritis, and inflammatory eye disease. With the introduction of novel and effective biologic agents, therapeutic apheresis is indicated only in severe cases, such as in rapid progression despite immunosuppressive therapy and/or biologic agents, and in patients with renal involvement, acute generalized vasculitis, thrombocytopenia, leucopenia, pulmonary, cardiac, or cerebral involvement. In mild forms of autoimmune disease, treatment with immunosuppressive therapies and/or biologic agents seems to be sufficient. The prognosis of autoimmune diseases with varying organ manifestations has improved considerably in recent years, due in part to very aggressive therapy schemes. Keywords: therapeutic apheresis, autoimmune diseases, systemic lupus erythematosus, antiphospholipid syndrome, rheumatoid arthritis, inflammatory eye disease

  11. Pertussis Syndrome. A Case Report

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    Alina Esther González Hermida

    2014-10-01

    Full Text Available Pertussis-like syndrome and whooping cough-like illness are the terms used to refer to the indistinguishable signs and symptoms of whooping cough in the absence of laboratory tests to confirm the presence of the bacteria that causes it. Although there are no reported cases in Cuba, it is important to keep paying attention to the most representative symptoms of this disease, since there has recently been a resurgence of whooping cough in the world. Therefore, it is relevant to present the case of a patient with a two-week history of upper respiratory symptoms and dry cough. These symptoms intensified, so she attended the emergency service of her health area.

  12. Meckel Gruber Syndrome: A Case Report

    OpenAIRE

    Celal Devecioglu; Hakkı Özdogan; Bernan Yokus

    2004-01-01

    Meckel-Gruber syndrome is an autosomal recessive disordercharacterized by a combination of renal cysts and variably associatedfeatures including developmental anomalies of the central nervous system(typically encephalocele), hepatic ductal dysplasia and cysts, andpolydactyly. n this cases AFP levels are increases. Alternative names areMeckel Syndrome, Dysencephalia Splanchnocystica, Gruber Syndrome andMeckel – Gruber Syndrome. This study is presented to draw attention to theMeckel Gruber Synd...

  13. [Gerstmann's syndrome: report of a case].

    Science.gov (United States)

    Rosati, G; de Bastiani, P; Pinna, L

    1979-01-01

    In recent years, several authors have questioned the reliaty of Gerstmann syndrome and have claimed that "aphasia might be regarded as the true Grundstörung of the Gerstmann symptoms". This paper describes a case of Gerstmann syndrome ictally risen with aphasia in a patient suffering from a tumour of the left PTO region. After the remission of aphasia, the syndromic association typical of the Gerstmann syndrome lasted up the exitus.

  14. Pernicious Anemia with Autoimmune Hemolytic Anemia: A Case Report and Literature Review

    OpenAIRE

    Sri Lakshmi Hyndavi Yeruva; Raj Pal Manchandani; Patricia Oneal

    2016-01-01

    Pernicious anemia is a common cause of vitamin B12 deficiency. Here, we discuss a case of a young woman who presented with severe anemia along with a history of iron deficiency anemia. After a review of her clinical presentation and laboratory data, we identified an autoimmune hemolytic anemia and a concomitant pernicious anemia. The concurrence of both these hematological diagnoses in a patient is rare.

  15. Pernicious Anemia with Autoimmune Hemolytic Anemia: A Case Report and Literature Review

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    Sri Lakshmi Hyndavi Yeruva

    2016-01-01

    Full Text Available Pernicious anemia is a common cause of vitamin B12 deficiency. Here, we discuss a case of a young woman who presented with severe anemia along with a history of iron deficiency anemia. After a review of her clinical presentation and laboratory data, we identified an autoimmune hemolytic anemia and a concomitant pernicious anemia. The concurrence of both these hematological diagnoses in a patient is rare.

  16. The role of mycophenolate mofetil in the management of autoimmune hepatitis and overlap syndromes

    NARCIS (Netherlands)

    Baven-Pronk, A. M. C.; Coenraad, M. J.; van Buuren, H. R.; de Man, R. A.; van Erpecum, K. J.; Lamers, M. M. H.; Drenth, J. P. H.; van den Berg, A. P.; Beuers, U. H.; den Ouden, J.; Koek, G. H.; van Nieuwkerk, C. M. J.; Bouma, G.; van Hoek, B.; T. Brouwer, J.

    Background Treatment failure occurs in 20% of autoimmune hepatitis patients on prednisolone and azathioprine (AZA). There is no established second line treatment. Aim To assess the efficacy of mycophenolate mofetil as second line treatment after AZA-intolerance or AZA-nonresponse in autoimmune

  17. A Unique Case of Autoimmune Retinopathy Associated with Anti-Alpha-Enolase Antibodies

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    Paul A. Kurz

    2011-01-01

    Full Text Available Background. We report a case of autoimmune retinopathy associated with anti-alpha-enolase antibodies with unique manifestations. Methods. A case report. Results. A 30-year-old male experienced recurrent, primarily peripheral visual field disturbances and minimal photopsia, with interval symptom resolution. Fundus changes subsequently developed in areas corresponding to the previous visual field symptoms. Electroretinogram showed bilaterally symmetric abnormalities of light-adapted responses and suggested loss of photoreceptor function. Only anti-alpha-enolase antibodies were detected on Western blot. Our patient noted cutaneous symptoms at the time of both episodes of visual symptoms, but not in the interim. Biomicroscopy revealed subtle small reddish spots in areas of the peripheral retina corresponding to the areas of the patient’s visual field where he noted symptoms. To our knowledge these reddish spots have not been reported in autoimmune retinopathy and may clinically support in vitro and in vivo evidence that anti-alpha-enolase antibodies may target photoreceptors. Conclusions. Our patient demonstrates some unique features adding to the known characteristics of autoimmune retinopathy associated with anti-alpha-enolase antibodies. As more cases are reported, further understanding of the features and pathophysiology of this rare condition will hopefully be elucidated.

  18. Severe Renal Hemorrhage in a Pregnant Woman Complicated with Antiphospholipid Syndrome: A Case Report

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    Shohei Kawaguchi

    2011-01-01

    Full Text Available Antiphospholipid syndrome is a systemic autoimmune disease with thrombotic tendency. Consensus guidelines for pregnancy with antiphospholipid syndrome recommend low-dose aspirin combined with unfractionated or low-molecular-weight heparin because antiphospholipid syndrome causes habitual abortion. We report a 36-year-old pregnant woman diagnosed with antiphospholipid syndrome receiving anticoagulation treatment. The patient developed left abdominal pain and gross hematuria at week 20 of pregnancy. An initial diagnosis of left ureteral calculus was made. Subsequently abdominal-pelvic computed tomography was required for diagnosis because of the appearance of severe contralateral pain. Computed tomography revealed serious renal hemorrhage, and ureteral stent placement and pain control by patient-controlled analgesia were required. After treatment, continuance of pregnancy was possible and vaginal delivery was performed safely. This is the first case report of serious renal hemorrhage in a pregnant woman with antiphospholipid syndrome receiving anticoagulation treatment and is an instructive case for urological and obstetrical practitioners.

  19. CASE REPORT OF HETEROTAXY SYNDROME

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    Rakesh Kumar

    2015-03-01

    Full Text Available Heterotaxy is defined as abnormality where the internal organs demonstrate abnormal arrangement across the left - right axis of the body. This broad term includes patient with a wide variety of very complex cardiac lesions. Patients with hetrotaxy can be stratified into the subset of asplenia syndrome and polyasplenia syndrome, or the subset of heterotaxy with isomerism of the right atrial appendages and hetrotaxy with isomerism of left atrial appendages. Malposition of internal organs is a rare condition in clinical practice. Situs ambiguous is characterized by multiple congenital anomally relevant to intra - abdominal organs and cardiovascular surgery. Situs ambiguous with asplenia is associated with severe congenital heart disease and detected early , usually in the first year of lif e, while situs ambiguous polyasplenia is associated with less severe or no congenital heart disease and would be detected more often later in life. In this report, we present an adolescent case of situs ambiguous anomally which was diagnosed incidentally. The patient had left sided liver, multiple splenicule and interrupted inferior vena cava (IVC. Furthermore she had a history of genu valgum which was diagnosed as rickets, and corrective surgery for this was done at the age of 11 years.

  20. Primary Sjogren Syndrome: Case report

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    Eylem Yaman Pinarci

    2013-08-01

    Full Text Available The importance of systemic evaluation of dry eye patients and choosing appropriate treatment based on the severity of disease were emphasized with this case. 48 years old woman complained about decreased vision, burning, itching in both eyes which got worse over the years, for about 20 years. Schirmer I test value was 0 mm/5min in both eyes. Slit lamp examination revealed filamentary keratitis in both eyes. Anti-Ro/ SSA, anti-La/ SS-B antibodies and salivary gland biopsy for Sjogren syndrome were positive. Temporary punctal occlusion and oral hydroxychloroquine were added to her treatment. After 10 days, her overall dry eye condition improved and permanent punctual plugs were inserted in both lower puctums.Dry eye patients should be evaluated systemically and severity of disease should be considered before treatment is started. Addition to topical application of artificial tears, punctal occlusion may be a proper option in dry eye patients with Sjogren syndrome. [Cukurova Med J 2013; 38(4.000: 818-822

  1. Pierre Robin syndrome: a case report

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    Richa Gupta

    2015-11-01

    Full Text Available Pierre Robin syndrome is characterized by micrognathia, glossoptosis and palatal malformation. We report a case of a 6 day neonate who presented with complaints of feeding and respiratory difficulty and was later diagnosed as case of Pierre Robin syndrome. [Int J Res Med Sci 2015; 3(11.000: 3432-3434

  2. POST PANCREATITIS SMA SYNDROME : A CASE REPORT

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    Ritesh M

    2015-05-01

    Full Text Available Superior mesenteric artery (SMA syndrome is a rare acquired disorder in which acute angulation of SMA causes compression of the third part of the duodenum between the SMA and the aorta, leading to obstruction. Loss of fatty tissue as a result of a variet y of debilitating conditions is believed to be the etiologic factor causing the acute angulation. Conditions like increased spinal lordosis, application of a body cast, short ligament of Treitz or unusually low origin of SMA may also precipitate this syndr ome. The diagnosis of SMA syndrome is based on clinical symptoms and radiologic evidence of obstruction. SMA syndrome has been described after rapid or severe weight loss in conditions such as cancer or extensive burn injuries, prolonged bed rest, anorexia , or malabsorption syndromes. Herewith we are reporting a case of post pancreatitis SMA syndrome. KEYWORDS: Post pancreatitis SMA syndrome; superior mesenteric artery syndrome; SMA syndrome.

  3. Anesthetic management of patient with Sjogren's syndrome who underwent cesarean section: a case report

    Science.gov (United States)

    Kim, Na Eun; Lee, Jae Hyuk; Lee, Jun Yong

    2016-01-01

    Sjogren's syndrome is one of the most common autoimmune disorders and has a female predominance. Maternal circulating autoantibodies such as anti-Ro/SSA and anti-La/SSB antibodies can cause congenital heart block of fetus, and in severe case, emergency pacemaker implantation may be needed for neonate. Therefore, it is very important to understand maternal and fetal condition and pay attention to the status of the neonate during delivery. In this paper, we present a case of patient with Sjogren's syndrome who underwent cesarean section under spinal anesthesia. PMID:27274376

  4. Multiple autoimmune antibody limbic encephalitis: a case in a pregnant woman

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    Meha Goyal

    2015-03-01

    Full Text Available Autoimmune limbic encephalitis is most commonly associated with antibodies against the N-methyl-D-aspartate receptor (NMDAR, among other neuronal cell surface receptors. Here, a case of a pregnant female with limbic encephalitis in the presence of multiple additional autoimmune antibodies is described. The patient was a 36-year-old female who presented with 4 days of confusion, hallucinations, hypersexuality, disinhibition, and pressured speech. The patient's work-up detected the presence of anti-NMDAR antibodies, anti-glutamic acid decarboxylase antibodies, and a yet uncharacterized neuronal autoantibody. The patient was also found to be pregnant. No evidence of ovarian or other pelvic malignancy was discovered. Symptomatic control was achieved with plasma exchange.

  5. First case of IgG4-related sclerosing cholangitis associated with autoimmune hemolytic anemia.

    Science.gov (United States)

    Masutani, Hironori; Okuwaki, Kosuke; Kida, Mitsuhiro; Yamauchi, Hiroshi; Imaizumi, Hiroshi; Miyazawa, Shiro; Iwai, Tomohisa; Takezawa, Miyoko; Koizumi, Wasaburo

    2014-07-14

    To our knowledge, patients with immunoglobulin G4-related sclerosing cholangitis (IgG4-SC) associated with autoimmune hemolytic anemia (AIHA) have not been reported previously. Many patients with IgG4-SC have autoimmune pancreatitis (AIP) and respond to steroid treatment. However, isolated cases of IgG4-SC are difficult to diagnose. We describe our experience with a patient who had IgG4-SC without AIP in whom the presence of AIHA led to diagnosis. The patient was a 73-year-old man who was being treated for dementia. Liver dysfunction was diagnosed on blood tests at another hospital. Imaging studies suggested the presence of carcinoma of the hepatic hilus and primary sclerosing cholangitis, but a rapidly progressing anemia developed simultaneously. After the diagnosis of AIHA, steroid treatment was begun, and the biliary stricture improved. IgG4-SC without AIP was thus diagnosed.

  6. Autoimmune hypophysitis.

    Science.gov (United States)

    Ezzat, S; Josse, R G

    1997-03-01

    Autoimmune (lymphocytic) hypophysitis has emerged as a distinct and specific clinical and pathological disease entity. Although relatively rare compared with other autoimmune endocrine diseases, nearly a hundred cases have been described. The condition is much more common in females (9:1) and appears to have a particular predilection for the pregnant and postpartum states. The anterior pituitary, and less often the neurohypophysis, appear to be the target for inflammatory autoimmune destruction. During the evolution of the disease process, pituitary hyperfunction (usually hyperprolactinemia) has been noted. This disease should now be included in the differential diagnosis of pituitary disorders, especially in females presenting with pituitary enlargement, particularly if symptoms occur in temporal relationship to pregnancy. The disease may form part of the spectrum of the polyglandular autoimmune endocrine disorders. (Trends Endocrinol Metab 1997;8:74-80). (c) 1997, Elsevier Science Inc.

  7. Bruck syndrome: a case report

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    Дмитрий Степанович Буклаев

    2015-09-01

    Full Text Available The article describes the clinical case of an infant with Bruck syndrome. The clinical and radiological analyses showed the presence of systemic osteoporosis with pathological fractures; contractures of the elbow, knee, and ankle joints; delay of physical and motor development; and signs of hypoplasia in some of the muscle groups. There was also a right-sided congenital muscular torticollis. X-ray analysis revealed a moderate antecurvation deformity of the lower legs and femurs, with cortical thinning. Laboratory data detected an abnormal beta-cross lap increase.Treatment of osteoporosis by inhibitors of osteoclastic resorption (pamidronate had a positive effect, and the elimination of flexion contractures at the elbow using plaster bandages with the distraction device also resulted in a positive effect.

  8. Goldbloom's syndrome - a case report.

    Science.gov (United States)

    Santos, Sónia; Estanqueiro, Paula; Salgado, Manuel

    2013-01-01

    The Goldbloom's syndrome (GS) is a rare clinical condition of unknown aetiology, occurring exclusively in the pediatric population. It consists in an idiopathic periosteal hyperostosis with dysproteinemia, whose symptoms can mimic a neoplastic disease. We present a case report illustrating the diagnostic challenge of this condition. The exclusion of the common causes of bone pain, associated with generalized periostitis and increased gammaglobulins suggested the diagnosis of GS. The self-limited symptoms, the resolution of radiological findings in four months and the normalization of laboratory abnormalities within ten months, allowed to establish definitely the diagnosis of GS. GS must be considered when diffuse bone pain, prolonged fever and weight loss are present after exclusion of malignant disease with bone involvement.

  9. Meckel Gruber Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Celal Devecioglu

    2004-01-01

    Full Text Available Meckel-Gruber syndrome is an autosomal recessive disordercharacterized by a combination of renal cysts and variably associatedfeatures including developmental anomalies of the central nervous system(typically encephalocele, hepatic ductal dysplasia and cysts, andpolydactyly. n this cases AFP levels are increases. Alternative names areMeckel Syndrome, Dysencephalia Splanchnocystica, Gruber Syndrome andMeckel – Gruber Syndrome. This study is presented to draw attention to theMeckel Gruber Syndrome which seen rarely, have high risk of reccurenceand antenathal determination of AFP levels and early diagnosis byultrasonographic screening can be confident.

  10. Autoimmune myelofibrosis accompanied by Sjögren's syndrome in a 47, XXX/46, XX mosaic woman.

    Science.gov (United States)

    Takahashi, Tohru

    2014-01-01

    This report describes a patient with autoimmune myelofibrosis accompanied by Sjögren's syndrome (SS). A 36-year-old woman was admitted due to petechiae, purpura, gingival bleeding, dyspnea on exertion, and a lack of concentration. She had pancytopenia and was diagnosed with SS. A bone marrow study showed hypercellular marrow with reticulin fibrosis. Lymphocytic infiltrates and aggregates composed of a mixture of T and B cells in the marrow were also observed. A chromosomal analysis of the marrow cells showed 47, XXX and an analysis of peripheral lymphocytes revealed 47, XXX/46, XX mosaic results. The patient's cytopenia resolved following treatment with oral prednisolone.

  11. [Autoimmune channelopathies].

    Science.gov (United States)

    Michaud, M; Delrieu, J; Astudillo, L

    2011-12-01

    Autoimmune channelopathies are rare neuromuscular diseases that have been characterized clinically for several decades but for which the evidence of associated antibodies has only been recently demonstrated. Ion channels have an important role of activation, inhibition and regulation in neuromuscular transmission. Myasthenia gravis, generally associated with the presence of anti-acetylcholine receptor antibody, is the best-known channelopathy. Other anti-channel antibodies, including voltage-dependent, are associated with several neurological diseases, as illustrated by anti-voltage-gated calcium channels found in Lambert-Eaton myasthenic syndrome and paraneoplastic cerebellar ataxia, and anti-voltage-gated potassium channels found in neuromyotonia, Morvan's syndrome and limbic encephalitis. The treatment of autoimmune channelopathies is logically based on corticosteroids, immunosuppressant drugs, intravenous immunoglobulins and plasmapheresis. Copyright © 2011 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  12. 8th International Congress on Autoimmunity: new perspectives for refractory catastrophic antiphospholipid syndrome.

    Science.gov (United States)

    Cervera, Ricard

    2012-09-01

    The 8th edition of the International Congress on Autoimmunity took place in the beautiful and historical city of Granada, Spain, from 9 to 13 March 2012. It gathered more than 2350 participants from 71 different countries, including internists, immunologists, rheumatologists, basic researchers and many other clinicians and laboratory people interested in autoimmune diseases who were updated with the latest available diagnostic tools and new therapeutic avenues. This top international autoimmunity meeting put together an international faculty of more than 100 experts to present a high-level scientific program under the leadership of Professor Yehuda Shoenfeld (Zabludowicz Center for Autoimmune Diseases, Tel-Hashomer, Israel) who chaired the congress together with Ricard Cervera (Hospital Clínic, Barcelona, Catalonia, Spain), Angela Tincani (University of Brescia, Italy) and Carlos Vasconcelos (Hospital S. António, Porto, Portugal) as co-chairpersons.

  13. Autoimmune Thrombotic Thrombocytopenic Purpura: Two Rare Cases Associated with Juvenile Idiopathic Arthritis and Multiple Sclerosis.

    Science.gov (United States)

    Dimopoulou, Despoina; Dimosiari, Athina; Mandala, Eudokia; Dimitroulas, Theodoros; Garyfallos, Alaxandros

    2017-01-01

    Secondary thrombotic microangiopathies are associated with several underlying conditions, with most of them being resolved after the treatment of background disease. Thrombotic thrombocytopenic purpura (TTP) is a rare microangiopathy presenting with anemia, thrombocytopenia, and neurological deficits, occurring most often in various autoimmune diseases due to inhibition of ADAMTS13 by autoantibodies, as well as in pregnant women with or without an autoimmune substrate. In this article, we report two newly diagnosed TTP cases, who have not been published so far. The first is a 27-year-old woman with a history of polyarticular rheumatoid factor negative juvenile idiopathic arthritis, who presented with thrombocytopenia, anemia, schistocytes on blood smear, headache, and active arthritis. Originally she was treated successfully with plasma exchange, intravenous prednisone, and vincristine, and a few months after the TTP episode, she was commenced on rituximab, resulting in remission of primary disease and no relapse of TTP. The second case refers to a 29-year-old pregnant woman complaining of dizziness and fatigue with microangiopathic hemolytic anemia. She was treated with plasma exchanges, intravenous prednisolone, and INN human normal immunoglobulin with full remission of the TTP episode. Six and half years later, she was diagnosed with multiple sclerosis and was commenced on interferon beta-1 alpha, with no recurrent episode of TTP. These cases broaden the spectrum of autoimmune disorders manifested or complicated clinically by TTP. Furthermore, biological agents such as rituximab appear to be an effective treatment option for refractory cases of TTP related to systemic rheumatic disease, indicating an alternative therapeutic solution in persistent cases of this disorder.

  14. Autoimmune Thrombotic Thrombocytopenic Purpura: Two Rare Cases Associated with Juvenile Idiopathic Arthritis and Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Despoina Dimopoulou

    2017-07-01

    Full Text Available Secondary thrombotic microangiopathies are associated with several underlying conditions, with most of them being resolved after the treatment of background disease. Thrombotic thrombocytopenic purpura (TTP is a rare microangiopathy presenting with anemia, thrombocytopenia, and neurological deficits, occurring most often in various autoimmune diseases due to inhibition of ADAMTS13 by autoantibodies, as well as in pregnant women with or without an autoimmune substrate. In this article, we report two newly diagnosed TTP cases, who have not been published so far. The first is a 27-year-old woman with a history of polyarticular rheumatoid factor negative juvenile idiopathic arthritis, who presented with thrombocytopenia, anemia, schistocytes on blood smear, headache, and active arthritis. Originally she was treated successfully with plasma exchange, intravenous prednisone, and vincristine, and a few months after the TTP episode, she was commenced on rituximab, resulting in remission of primary disease and no relapse of TTP. The second case refers to a 29-year-old pregnant woman complaining of dizziness and fatigue with microangiopathic hemolytic anemia. She was treated with plasma exchanges, intravenous prednisolone, and INN human normal immunoglobulin with full remission of the TTP episode. Six and half years later, she was diagnosed with multiple sclerosis and was commenced on interferon beta-1 alpha, with no recurrent episode of TTP. These cases broaden the spectrum of autoimmune disorders manifested or complicated clinically by TTP. Furthermore, biological agents such as rituximab appear to be an effective treatment option for refractory cases of TTP related to systemic rheumatic disease, indicating an alternative therapeutic solution in persistent cases of this disorder.

  15. Serotonin Syndrome With Fluoxetine: Two Case Reports

    Science.gov (United States)

    Patel, Dipen Dineshkumar

    2016-01-01

    Background: Serotonin syndrome is a rare but serious complication of treatment with serotonergic agents. In its severe manifestations, death can ensue. Early recognition and aggressive management are crucial to mitigating the syndrome. Often the presentation can be subtle and easy to miss. Case Reports: We present 2 cases of serotonin syndrome seen in the psychiatric consultation service of a busy academic hospital. Both patients had favorable outcomes because of early recognition and aggressive management. Conclusion: Physicians should carefully consider and rule out the clinical diagnosis of serotonin syndrome when presented with an agitated or confused patient who is taking serotonergic agents. PMID:27999518

  16. A Rare case of Guillain-Barré syndrome in pregnancy treated with plasma exchange

    Directory of Open Access Journals (Sweden)

    Rahul Vasudev

    2014-01-01

    Full Text Available Guillain-Barre syndromé (GBS is an autoimmune disorder. It is rare in pregnancy as there is a decrease in cell-mediated immunity. A case of 28-year-old pregnant woman who presented with acute flaccid quadriplegia suffering from GBS is discussed in this study. She was treated with plasma exchange in her immediate post-partum period. The management of GBS in pregnancy has been discussed.

  17. Inpatient Physiotherapy Management for Stiff-Person Syndrome: A Case Report

    OpenAIRE

    Kahraman; Balci,; Sukru Sengun

    2016-01-01

    Introduction Stiff-person syndrome (SPS) is a rare autoimmune neurological disorder presenting with inability to perform daily activities independently. Because SPS is a rare disorder, the efficacy of physiotherapy in the management of SPS is not yet known. Case Presentation The patient was a 65-year-old female with SPS diagnosed 1 year before. Assessments were performed, such as range of motion, muscle strength, pain, balance, an...

  18. Cornelia De Lange Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Hojatollah Mortezaian

    2009-12-01

    Full Text Available Cornelia de Lange syndrome (CdLS is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological problems. The diagnosis of this syndrome is clinical. The patient of the present case report was the second case of CdLS from Iran; only a few cases of CdLS have thus far been reported from countries outside Europe and North America. Reporting CdLS cases of different ethnic backgrounds can add nuances to the phenotypic description of the syndrome and be helpful in diagnosis. Furthermore, an increased awareness of this syndrome may result in an early diagnosis and a decrease in morbidity.

  19. Deciphering Autoimmune Pancreatitis, a Great Mimicker: Case Report and Review of the Literature

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    Satya Allaparthi

    2015-01-01

    Full Text Available Background. Autoimmune pancreatitis (AIP is an atypical chronic inflammatory pancreatic disease that appears to involve autoimmune mechanisms. In recent years, AIP has presented as a new clinical entity with its protean pancreaticobiliary and systemic presentations. Its unique pathology and overlap of clinical and radiological features and absence of serological markers foster the disease’s unique position. We report a case of diffuse type 1 autoimmune pancreatitis with obstructive jaundice managed with biliary sphincterotomy, stent placement, and corticosteroids. A 50-year-old Caucasian woman presented to our hospital with epigastric pain, nausea, vomiting, and jaundice. Workup showed elevated liver function tests (LFT suggestive of obstructive jaundice, MRCP done showed diffusely enlarged abnormal appearing pancreas with loss of normal lobulated contours, and IgG4 antibody level was 765 mg/dL. EUS revealed a diffusely hypoechoic and rounded pancreatic parenchyma with distal common bile duct (CBD stricture and dilated proximal CBD and common hepatic duct (CHD. ERCP showed tight mid to distal CBD stricture that needed dilatation, sphincterotomy, and placement of stent that led to significant improvement in the symptoms and bilirubin level. Based on clinical, radiological, and immunological findings, a definitive diagnosis of AIP was made. Patient was started on prednisone 40 mg/day and she clinically responded in 4 weeks.

  20. Autoimmune sensorineural hearing loss as presenting manifestation of paediatric Behçet disease responding to adalimumab: a case report

    OpenAIRE

    Marsili, Manuela; Marzetti, Valentina; Lucantoni, Marta; Lapergola, Giuseppe; Gattorno, Marco; Chiarelli, Francesco; Breda, Luciana

    2016-01-01

    Background Autoimmune sensorineural hearing loss, also known as autoimmune inner ear disease (AIED) is a rare clinical entity characterized by progressive and bilateral sensorineural hearing loss often accompanied by vestibular symptoms. Diagnosis is essential as a consistent number of patients show a positive response to steroids alone or in association with other immunosuppressive drugs. AIED is defined as primary when the disease is limited to the ear, whereas in up to a third of cases it ...

  1. Gorlin-Goltz syndrome: A rare case

    Directory of Open Access Journals (Sweden)

    Satyaki Ganguly

    2015-01-01

    Full Text Available Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

  2. Gorlin-goltz syndrome: a rare case.

    Science.gov (United States)

    Ganguly, Satyaki; Jaykar, Kranti C; Kumar, Rajesh; Jha, Abhijeet Kumar; Banerjee, P K

    2015-01-01

    Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

  3. Hermansky-Pudlak syndrome; a Case Report

    Directory of Open Access Journals (Sweden)

    Abbas Bagheri

    2010-01-01

    Full Text Available Purpose: To report a case of Hermansky-Pudlak syndrome. Case Report: A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosphate deficiency and abnormal aggregation compatible with Hermansky-Pudlak syndrome. The patient underwent strabismus surgery taking necessary precautions such as reserving platelet concentrates in case of a hemorrhagic event. Conclusion: Patients with albinism should be evaluated for Hermansky-Pudlak syndrome especially before surgery to prevent life-threatening complications.

  4. Williams-Beuren's Syndrome: A Case Report

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    Hassan Zamani

    2012-01-01

    Full Text Available Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD, skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6 in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH was performed and the result was: 46.XX, ish del (7q11.2 (ELN X1 (7q22 X2 ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

  5. Williams-Beuren's Syndrome: A Case Report.

    Science.gov (United States)

    Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

    2012-01-01

    Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

  6. [Autoimmune syndrome in the tropical spastic paraparesis/myelopathy associated with human T-lymphotropic virus infections].

    Science.gov (United States)

    Domínguez, Martha C; Torres, Miyerlandi; Tamayo, Oscar; Criollo, William; Quintana, Milton; Sánchez, Adalberto; García, Felipe

    2008-12-01

    Previous reports have given evidence that in tropical spastic paraparesis (TSP)/human T-lymphotrophic virus (HTLV-I)-associated myelopathy (HAM), an autoimmune process occurs as part of its pathogenesis. The roles of autoimmunity and the molecular mimicry was evaluated in TSP/HAM patients. Plasma samples were characterized from patients in the Pacific coastal region of Colombia. Thirty-seven were identified as TSP/HAM, 10 were diagnosed with adult T-cell leukemia virus, 22 were asymptomatic carriers but seropositive for HTLV-I and 20 were seronegative and served as negative controls. Plasmatic levels of the following were determined: antinuclear antibody (ANA) levels, anticardiolipine-2 (ACL-2), interferon- (IFN-gamma) and interleukin-4 (IL-4). Using Western blot, the crossreactivity of the seropositive and seronegative samples was evaluated against proteins extracted from several central nervous system components of non infected Wistar rats. The HTLV-I seropositive plasmas were crossreacted with a monoclonal tax (LT4 anti-taxp40) from spinal cord neurons of non infected Wistar rats. Of the TSP/HAM patients, 70.2% were reactive against ANA and 83.8% against ACL-2, in contrast with those ATL and asymptomatic seropositives subjects that were not reactive (P<0.001). Moreover, 70.3% had detectable levels of IFN and 43.2% had detectable IL-4. LT4 anti-taxp40 and plasma of TSP/HAM exhibited cross reactivity with a MW 33-35 kDa protein from the rat spinal cord nuclei. Support was provided for the existence of an autoimmune syndrome mediated by molecular mimicry; the syndrome was responsible for some of the axonal degeneration observed in TSP/HAM patients.

  7. Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis.

    Science.gov (United States)

    Caso, Francesco; Costa, Luisa; Rigante, Donato; Vitale, Antonio; Cimaz, Rolando; Lucherini, Orso Maria; Sfriso, Paolo; Verrecchia, Elena; Tognon, Sofia; Bascherini, Vittoria; Galeazzi, Mauro; Punzi, Leonardo; Cantarini, Luca

    2014-12-01

    Blau syndrome (BS) and early onset sarcoidosis (EOS) are, respectively, the familial and sporadic forms of the pediatric granulomatous autoinflammatory disease, which belong to the group of monogenic autoinflammatory syndromes. Both of these conditions are caused by mutations in the NOD2 gene, which encodes the cytosolic NOD2 protein, one of the pivotal molecules in the regulation of innate immunity, primarily expressed in the antigen-presenting cells. Clinical onset of BS and EOS is usually in the first years of life with noncaseating epithelioid granulomas mainly affecting joints, skin, and uveal tract, variably associated with heterogeneous systemic features. The dividing line between autoinflammatory and autoimmune mechanisms is probably not so clear-cut, and the relationship existing between BS or EOS and autoimmune phenomena remains unclear. There is no established therapy for the management of BS and EOS, and the main treatment aim is to prevent ocular manifestations entailing the risk of potential blindness and to avoid joint deformities. Nonsteroidal anti-inflammatory drugs, corticosteroids and immunosuppressive drugs, such as methotrexate or azathioprine, may be helpful; when patients are unresponsive to the combination of corticosteroids and immunosuppressant agents, the tumor necrosis factor-α inhibitor infliximab should be considered. Data on anti-interleukin-1 inhibition with anakinra and canakinumab is still limited and further corroboration is required. The aim of this paper is to describe BS and EOS, focusing on their genetic, clinical, and therapeutic issues, with the ultimate goal of increasing clinicians' awareness of both of these rare but serious disorders.

  8. Alopecia universalis, hypothyroidism and pituitary hyperplasia: polyglandular autoimmune syndrome III in a patient in remission from treated Hodgkin lymphoma.

    LENUS (Irish Health Repository)

    Quintyne, K I

    2010-10-01

    We herein report a case of a 33-year-old man in remission from Hodgkin lymphoma, who presented with reduced potency and hair loss. Initial endocrine tests revealed autoimmune hypothyroidism. An MRI of his pituitary gland at onset revealed hyperplasia. He tolerated replacement endocrine therapy with good response, but with no improvement in his alopecia universalis. A repeat MRI, 6 months after his initial endocrine manipulation, showed resolution of his pituitary hyperplasia.

  9. Treacher Collins syndrome: a case report.

    Science.gov (United States)

    Mohan, Ravi Prakash Sasankoti; Verma, Sankalp; Agarwal, Neha; Singh, Udita

    2013-05-24

    Treacher Collins syndrome is a rare autosomal dominant disorder of craniofacial development. The fully expressed phenotype exhibits characteristic dysmorphic features involving the face, eyes, mandible and ears. We report a case of a 17-year-old woman presenting with the typical orofacial implications of this syndrome.

  10. Gorlin's Syndrome-A case report

    OpenAIRE

    Arun Gupta ,Vijay Suri,Yudhvir Gupta

    2000-01-01

    Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. Most commonphenotypic expression of this syndrome is a basal cell carcinoma (BCC). It is characterized bymultiple skin lesions on head and neck region. We present a case of49 year old male who presentedwith basal cell carcinoma at multiple sites simultaneously.

  11. Papillon-Lefevre syndrome: A case report

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    Subramaniam P

    2008-01-01

    Full Text Available Papillon-Lefevre syndrome is a rare autosomal recessive genetic disorder. The clinical manifestations include palmer planter hyperkeratosis with precocious progressive periodontal disease that results in premature exfoliation of primary and permanent dentitions. Patients are often edentulous at an early age. This is a case report of prosthodontic rehabilitation of a 15-year-old girl with Papillon-Lefevre syndrome.

  12. A new case of MOMO syndrome.

    Science.gov (United States)

    Wallerstein, Robert; Sugalski, Rachel D

    2010-01-01

    MOMO syndrome, a condition described in three earlier patients, is a constellation of macrosomia, obesity, macrocephaly, and ocular abnormalities as the main findings. We report a 6-year-old child with these findings as well as significant developmental issues, delayed bone age, clavicular pseudoarthrosis, and straight femurs. We believe that this child should be considered as having MOMO syndrome. Careful consideration of his facial features shows some overlap with Kabuki syndrome. Description of this case may help to better elucidate the clinical features of MOMO syndrome.

  13. Groenblad Strandberg syndrome-A case report

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    Harikrishnan S

    1991-01-01

    Full Text Available A rare case of Groenblad Strandberg syndrome in which angioid streaks are associated with pseudoxanthoma elasticum is being reported. The pathology, clinical features, complications and treatment of angioid streaks are discussed in detail.

  14. Goldenhar Syndrome: A Case Report with Review

    Science.gov (United States)

    Goswami, Mridula; Jangra, Babita

    2016-01-01

    Goldenhar syndrome is a rare condition which is characterized by a multitude of anomalies involving craniofacial structures, vertebrae, internal organs and usually occurs unilaterally. The etiology of this syndrome is unclear since it varies genetically and is linked to a plethora of reasons. Herein, we report a case of Goldenhar syndrome with hemifacial microsomia and microtia along with systemic involvement which was clinically and radio-graphically assessed. Many classical signs of the syndrome were present in the patient along with few rare ones. The various aspects of this rare disease have been discussed with emphasis on timely diagnosis and multidisciplinary approach to manage it. How to cite this article Goswami M, Bhushan U, Jangra B. Goldenhar Syndrome: A Case Report with Review. Int J Clin Pediatr Dent 2016;9(3):278-280. PMID:27843263

  15. Ovarian hyper stimulation syndrome: a case report

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    Arti Patidar

    2016-07-01

    Full Text Available We present here a rare case ovarian hyper stimulation syndrome. In the case patient came with complain of abdominal pain, distension, nausea, vomiting with known case of secondary infertility. [Int J Reprod Contracept Obstet Gynecol 2016; 5(7.000: 2418-2420

  16. Mouth and Genital Ulcers with Inflamed Cartilage Syndrome: Case Report and Review of the Published Work.

    Science.gov (United States)

    Kaneko, Yuka; Nakai, Noriaki; Kida, Takashi; Kawahito, Yutaka; Katoh, Norito

    2016-01-01

    Mouth and genital ulcers with inflamed cartilage (MAGIC) syndrome are disease that fulfilled criteria for diagnosis of Behcet's disease (BD) and relapsing polychondritis (RP). We report a 22-year-old Japanese woman presented with MAGIC syndrome and we described the clinicopathological characteristics of MAGIC syndrome based on a review of published cases from July 1985 to December 2015. In our case, the patient with oral aphthae, erythema nodosum, acne-like eruptions, uveitis, and polyarthritis fulfilled criteria for diagnosis of incomplete form of BD. The patient with uveitis, polyarthritis, and histological confirmation of chondritis also fulfilled criteria for diagnosis of RP. The patient was successfully treated with oral colchicine followed by prednisolone. The symptoms of MAGIC syndrome gradually disappeared, and the prednisolone dosage was gradually decreased and stopped. She has been in remission without active medication for a further 8 months. In the previous reports, some authors suggested that MAGIC syndrome was not a disease entity and might be RP occurring secondary to BD, another association of an autoimmune disease, or vasculitis with RP. However, the pathogenic association between MAGIC syndrome, BD, and RP is still unclear, and the number of reported cases of MAGIC syndrome is insufficient to establish a clear explanation. Therefore, further accumulation of data and careful observation of the clinical course are required to improve the understanding of MAGIC syndrome.

  17. Mouth and genital ulcers with inflamed cartilage syndrome: Case report and review of the published work

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    Yuka Kaneko

    2016-01-01

    Full Text Available Mouth and genital ulcers with inflamed cartilage (MAGIC syndrome are disease that fulfilled criteria for diagnosis of Behcet's disease (BD and relapsing polychondritis (RP. We report a 22-year-old Japanese woman presented with MAGIC syndrome and we described the clinicopathological characteristics of MAGIC syndrome based on a review of published cases from July 1985 to December 2015. In our case, the patient with oral aphthae, erythema nodosum, acne-like eruptions, uveitis, and polyarthritis fulfilled criteria for diagnosis of incomplete form of BD. The patient with uveitis, polyarthritis, and histological confirmation of chondritis also fulfilled criteria for diagnosis of RP. The patient was successfully treated with oral colchicine followed by prednisolone. The symptoms of MAGIC syndrome gradually disappeared, and the prednisolone dosage was gradually decreased and stopped. She has been in remission without active medication for a further 8 months. In the previous reports, some authors suggested that MAGIC syndrome was not a disease entity and might be RP occurring secondary to BD, another association of an autoimmune disease, or vasculitis with RP. However, the pathogenic association between MAGIC syndrome, BD, and RP is still unclear, and the number of reported cases of MAGIC syndrome is insufficient to establish a clear explanation. Therefore, further accumulation of data and careful observation of the clinical course are required to improve the understanding of MAGIC syndrome.

  18. A new case of Okamoto syndrome.

    Science.gov (United States)

    Wallerstein, Robert; Shih, Ling-yu; Fong, Mei-Heung; Zheng, Sharon; Poon, Eric

    2005-04-01

    We report a 6 month old boy with congenital hydronephrosis, cleft palate, severe hypotonia, congenital heart defect, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of Okamoto syndrome. Okamoto syndrome is a recently described distinctive multiple congenital anomaly syndrome encompassing the above features for which an etiologic factor has not yet been identified. Our patient also had idiopathic splenomegaly and non-specific MRI changes in the brain, not reported in the first two cases.

  19. Hemophagocytic Syndrome: A Case Report

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    Derya Ozturk

    2014-12-01

    Full Text Available Hemophagocytic syndrome, a serious clinical condition accompanying systemic inflammatory disorders, is characterized by massive hypercytokinemia as a result of excessive activation and proliferation of T-lymphocytes and macrophages. This article aims to remind clinicians of the hemophagocytic syndrome in the differential diagnosis of patients with fever, pancytopenia, and hepatosplenomegaly. This condition can be highly fatal despite the administration of appropriate therapy. Early diagnosis of hemophagocytic syndrome is of utmost importance, as a delay in diagnosis significantly worsens the prognosis, and treatment should be tailored to the underlying pathology.

  20. Deep vein thrombosis in a patient of Sheehan′s syndrome: Autoimmunity or hypercoagulabilty

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    Shahnaz Ahmad Mir

    2013-01-01

    Full Text Available Introduction: Literature is inconsistent whether patients with hypopituitarism have increased risk of thrombosis. Recent data has shown problems with the coagulation system in Sheehan′s syndrome (SS. Here, we describe a case of SS which presented with deep vein thrombosis. Objective: To describe a case of SS presenting as deep vein thrombosis. Case Report: A 30-year-old female was admitted to the general medicine ward with 1 month history of gradual onset swelling and pain in the left leg. The left calf diameter was 5 cm greater than the right. Doppler of the lower limbs revealed thrombosis in the left popliteal vein. Patient′s coagulation profile revealed a normal prothrombin time of 12 sec, activated partial thromboplastin time of 30 sec, positive D-dimer, negative protein C and protein S and normal titres of antinuclear antibodies. Echocardiography showed an ejection fraction of 52 percent. Endocrinology consultation was sought in view of clinical suspicion of hypothyroidism. Endocrinology review revealed a significant past history of primary postpartum hemorrhage, lactation failure and secondary amenorrhea since the delivery of the last child 6 years back. She had clinical features of growth hormone, thyroid hormone and adrenocorticotropic hormone deficiency. Hormonal analysis showed features of central hypothyroidism, secondary adrenal insufficiency and growth hormone deficiency which was subsequently confirmed by insulin tolerance test. Conclusion: SS patients may have increased risk of thrombosis

  1. Steroid Responsive Xanthomatous Hypophysitis Associated with Autoimmune Thyroiditis: A Case Report

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    Ji Young Joung

    2013-03-01

    Full Text Available We report the case of a 36-year-old woman who presented with headache, fever, and amenorrhea. Laboratory analysis revealed hypopituitarism and autoimmune thyroiditis, while a cerebrospinal fluid study suggested concurrent aseptic meningitis. A magnetic resonance image (MRI scan revealed a 1.0×0.9 cm cystic mass enlarging the sella turcica. Surgical resection via an endoscopic transsphenoidal route was performed. The histological finding of the excised tissue revealed foamy histiocytes with vacuolated cytoplasm, supporting the diagnosis of xanthomatous hypophysitis. Although a residual soft lesion was observed on the MRI image postoperatively, the patient's headache and fever improved. Ten months after surgery, the patient complained of visual impairment and headache, and the residual mass had enlarged into the suprasellar area. High dose (500 mg intravenous methylprednisolone was administered for 3 days. During the methylprednisolone pulse therapy, the patient's visual acuity and headache improved. A follow-up MRI taken after methylprednisolone therapy showed a marked mass reduction. Our case supports an autoimmune pathophysiology for xanthomatous hypophysitis and suggests that high dose glucocorticoid therapy as a treatment option.

  2. Heterotaxy syndrome: a case report

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    Daniel de Souza Carneiro

    2013-06-01

    Full Text Available The present report describes the findings at chest computed tomography angiography of a 28-year-old female patient with heterotaxy syndrome. This syndrome consists of a variety of anomalies of position and morphology of thoracoabdominal organs which do not follow the situs solitus or situs inversus arrangement. Imaging studies play a fundamental role in the individualization of the approach to the patient.

  3. Case report 509: Proteus syndrome

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    Burnstein, M.I.; Kottamasu, S.R.; Katz, M.E.; Weiss, L.

    1988-10-01

    Radiographic features of Proteus syndrome include asymmetry of limbs, partial gigantism of the hands or feet, and hemihypertrophy. The patient described (a 16-year-old male) manifested features of Proteus syndrome which is another entity in the gamut of conditions associated with localized gigantism. This entity should be suggested particularly when localized gigantism is associated with diffuse intra-abdominal lipomatosis and extensive lipomas involving the chest wall and back.

  4. Eagle's syndrome: a case report

    OpenAIRE

    Moon, Chang-Sig; Lee, Baek-Soo; Kwon, Yong-Dae; Choi, Byung-Jun; Lee, Jung-Woo; Lee, Hyun-Woo; Yun, Sun-Ung; Ohe, Joo-Young

    2014-01-01

    Eagle's syndrome is a disease caused by an elongated styloid process or calcified stylohyoid ligament. Eagle defined the disorder in 1937 by describing clinical findings related to an elongated styloid process, which is one of the numerous causes of pain in the craniofacial and cervical region. The prevalence of individuals with this anatomic abnormality in the adult population is estimated to be 4% with 0.16% of these individuals reported to be symptomatic. Eagle's syndrome is usually charac...

  5. A Case with Cowden Syndrome

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    Nehir Parlak

    2015-06-01

    Full Text Available Cowden syndrome is an autosomal dominant rare inherited disorder characterized by multiple hamartomas in variety of tissues from all three embryonic layers. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules, also macrocephaly and malignancies including breast, tyhroid and endometrial carcinoma are hallmark of the disease. Here we report a 47-year-old male patient with mucucutaneous lesions, gastrointestinal polyposis and macrocephaly diagnosed as Cowden syndrome.

  6. Síndrome de Turner y tiroiditis autoinmune Turner´s syndrome and autoimmune thyroiditis

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    Tamara Fernández Teruel

    2003-12-01

    ´s maneuver, no pubic hair, external feminine genitalia and stage I breast development (Tanner I. Supplementary studies performed: TSH 32,6 mU/L, positive anti-michrosomal antibodies, positive anti-pancreatic islets antibodies, oral chromatin of 12%, FSH 68,8 UI/L (high, LH of 12,5 UI/L (high, estrogen value of 18 pmol/L (reduced, prolactin value of 72 mU/L (reduced. In conclusion, this was a patient with a diagnosis of Turner´s syndrome and autoimmune thyroid disease together with clinical hypothyroidism.

  7. COEXISTENCE YELLOW NAIL SYNDROME WITH SYSTEMIC SYMPTOMS - PRESENTATION OF CASES

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    Brzeziński Piotr

    2010-10-01

    Full Text Available Nail changes can accompany many systemic diseases and very often indicate the ongoing systemic process of illness. The yellow nail syndrome (YNS is very rare clinical entity characterized by marked thickening and yellow to yellow-green discoloration of the nails. Congenitally hypoplastic lymphostasis plays a major role in the clinical manifestation of that disease. Syndrome includes pleural effusions, lymphedema and yellow dystrophic nails. The pathogenesis stays still unknown.Aim: Presentation the coexistence of YNS with the systemic symptoms by analyzing cases of 3 patients.Material and methods: The analysis involved 3 patients with YNS (2 women and 1 man aged from 43 to 48 years.Results: We confirmed 3 cases of YNS, with the characteristic nails changes (yellow-greenish discoloration, absence of lunula, etc.. None of the patients had a family history of YNS. All suffered from chronic diseases: the first patient suffered from lymphedema and diabetes mellitus, second - from rheumatoid arthritis and the third complained of a chronic caught and sinusitis. All YNS`s symptoms occurred in the patients` forties. We observed fingers and toes involvement on 7-8 nails in each patient.Conclusions: The YNS offen associated with systemic disease, most commonly lymphedema and bronchiectasis. However, the literature describes some connections with carcinoma and autoimmune diseases. Therefore, each patient with YNS should be examined for cancer detection and stay under periodic medical control.

  8. A Bad Case of Good's Syndrome.

    Science.gov (United States)

    Tachdjian, Raffi; Keller, Janet J; Pfeffer, Michael

    2014-12-01

    Good's syndrome is a relatively rare immunodeficiency condition that presents in the fourth or fifth decade of life and is defined by hypogammaglobulinemia in the setting of a thymoma. The humoral defect may be severe enough to cause an absence in B cells, with a consequent recurrence of sinopulmonary disease, chronic non-infectious diarrhea and opportunistic infections. The prognosis in patients with Good's syndrome appears to be worse than in those with X-linked agammaglobulinemia (XLA) and common variable immune deficiency (CVID). There have only been three cases of Good's syndrome associated with mycobacterium, and only one case with a cavitary lesion in the lungs. We present here a unique case of Good's syndrome with a non-mycobacterial cavitary lesion.

  9. Development of central nervous system autoimmunity is impaired in the absence of Wiskott-Aldrich syndrome protein.

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    Marita Bosticardo

    Full Text Available Wiskott-Aldrich Syndrome protein (WASP is a key regulator of the actin cytoskeleton in hematopoietic cells. Defective expression of WASP leads to multiple abnormalities in different hematopoietic cells. Despite severe impairment of T cell function, WAS patients exhibit a high prevalence of autoimmune disorders. We attempted to induce EAE, an animal model of organ-specific autoimmunity affecting the CNS that mimics human MS, in Was(-/- mice. We describe here that Was(-/- mice are markedly resistant against EAE, showing lower incidence and milder score, reduced CNS inflammation and demyelination as compared to WT mice. Microglia was only poorly activated in Was(-/- mice. Antigen-induced T-cell proliferation, Th-1 and -17 cytokine production and integrin-dependent adhesion were increased in Was(-/- mice. However, adoptive transfer of MOG-activated T cells from Was(-/- mice in WT mice failed to induce EAE. Was(-/- mice were resistant against EAE also when induced by adoptive transfer of MOG-activated T cells from WT mice. Was(+/- heterozygous mice developed an intermediate clinical phenotype between WT and Was(-/- mice, and they displayed a mixed population of WASP-positive and -negative T cells in the periphery but not in their CNS parenchyma, where the large majority of inflammatory cells expressed WASP. In conclusion, in absence of WASP, T-cell responses against a CNS autoantigen are increased, but the ability of autoreactive T cells to induce CNS autoimmunity is impaired, most probably because of an inefficient T-cell transmigration into the CNS and defective CNS resident microglial function.

  10. Voltage-gated potassium channel-complex autoimmunity and associated clinical syndromes.

    Science.gov (United States)

    Irani, Sarosh R; Vincent, Angela

    2016-01-01

    Voltage-gated potassium channel (VGKC)-complex antibodies are defined by the radioimmunoprecipitation of Kv1 potassium channel subunits from brain tissue extracts and were initially discovered in patients with peripheral nerve hyperexcitability (PNH). Subsequently, they were found in patients with PNH plus psychosis, insomnia, and dysautonomia, collectively termed Morvan's syndrome (MoS), and in a limbic encephalopathy (LE) with prominent amnesia and frequent seizures. Most recently, they have been described in patients with pure epilepsies, especially in patients with the novel and distinctive semiology termed faciobrachial dystonic seizures (FBDS). In each of these conditions, there is a close correlation between clinical measures and antibody levels. The VGKC-complex is a group of proteins that are strongly associated in situ and after extraction in mild detergent. Two major targets of the autoantibodies are leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein 2 (CASPR2). The patients with PNH or MoS are most likely to have CASPR2 antibodies, whereas LGI1 antibodies are found characteristically in patients with FBDS and LE. Crucially, each of these conditions has a good response to immunotherapies, often corticosteroids and plasma exchange, although optimal regimes require further study. VGKC-complex antibodies have also been described in neuropathic pain syndromes, chronic epilepsies, a polyradiculopathy in porcine abattoir workers, and some children with status epilepticus. Increasingly, however, the antigenic targets in these patients are not defined and in some cases the antibodies may be secondary rather than the primary cause. Future serologic studies should define all the antigenic components of the VGKC-complex, and further inform mechanisms of antibody pathogenicity and related inflammation.

  11. Fatal atypical reversible posterior leukoencephalopathy syndrome: a case report

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    Golombeck Stefanie Kristin

    2013-01-01

    Full Text Available Abstract Introduction Reversible posterior leukoencephalopathy syndrome – a reversible subacute global encephalopathy clinically presenting with headache, altered mental status, visual symptoms such as hemianopsia or cortical blindness, motor symptoms, and focal or generalized seizures – is characterized by a subcortical vasogenic edema symmetrically affecting posterior brain regions. Complete reversibility of both clinical signs and magnetic resonance imaging lesions is regarded as a defining feature of reversible posterior leukoencephalopathy syndrome. Reversible posterior leukoencephalopathy syndrome is almost exclusively seen in the setting of a predisposing clinical condition, such as pre-eclampsia, systemic infections, sepsis and shock, certain autoimmune diseases, various malignancies and cytotoxic chemotherapy, transplantation and concomitant immunosuppression (especially with calcineurin inhibitors as well as episodes of abrupt hypertension. We describe for the first time clinical, radiological and histological findings in a case of reversible posterior leukoencephalopathy syndrome with an irreversible and fatal outcome occurring in the absence of any of the known predisposing clinical conditions except for a hypertensive episode. Case presentation A 58-year-old Caucasian woman presented with a two-week history of subacute and progressive occipital headache, blurred vision and imbalance of gait and with no evidence for raised arterial blood pressure during the two weeks previous to admission. Her past medical history was unremarkable except for controlled arterial hypertension. Cerebral magnetic resonance imaging demonstrated cortical and subcortical lesions with combined vasogenic and cytotoxic edema atypical for both venous congestion and arterial infarction. Routine laboratory and cerebrospinal fluid parameters were normal. The diagnosis of reversible posterior leukoencephalopathy syndrome was established. Within hours after

  12. Successful Pregnancy Outcome in Women with Recurrent IVF Failure and Anti-hCG Autoimmunity: A Report of Three Cases

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    Valeria Muller

    2016-01-01

    Full Text Available We report three cases of effective management of infertility in women with a history of repeated unsuccessful IVF attempts, who have developed antibodies to hCG. A novel approach to conservative treatment of immunologic reproductive failure, suggested for selected patients, included membrane plasmapheresis, combined prednisolone, and intravenous immunoglobulin therapy. No adverse side effects were observed; all cases resulted in pregnancy and subsequent life births. In order to be given an adequate efficient treatment, women with recurrent implantation failure should be suspected for autoimmune factor of infertility and its possible association with anti-hCG autoimmunity.

  13. Introducing Polyautoimmunity: Secondary Autoimmune Diseases No Longer Exist

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    Adriana Rojas-Villarraga

    2012-01-01

    Full Text Available Similar pathophysiological mechanisms within autoimmune diseases have stimulated searches for common genetic roots. Polyautoimmunity is defined as the presence of more than one autoimmune disease in a single patient. When three or more autoimmune diseases coexist, this condition is called multiple autoimmune syndrome (MAS. We analyzed the presence of polyautoimmunity in 1,083 patients belonging to four autoimmune disease cohorts. Polyautoimmunity was observed in 373 patients (34.4%. Autoimmune thyroid disease (AITD and Sjögren's syndrome (SS were the most frequent diseases encountered. Factors significantly associated with polyautoimmunity were female gender and familial autoimmunity. Through a systematic literature review, an updated search was done for all MAS cases (January 2006–September 2011. There were 142 articles retrieved corresponding to 226 cases. Next, we performed a clustering analysis in which AITD followed by systemic lupus erythematosus and SS were the most hierarchical diseases encountered. Our results indicate that coexistence of autoimmune diseases is not uncommon and follows a grouping pattern. Polyautoimmunity is the term proposed for this association of disorders, which encompasses the concept of a common origin for these diseases.

  14. Autoimmune thyroid disease in patients of thyroid hormone insensitivity syndrome:5 cases report and literature re-view%甲状腺激素不敏感综合征合并自身免疫性甲状腺疾病5例报道并文献复习

    Institute of Scientific and Technical Information of China (English)

    汪宁; 陈欢; 赵真真; 贾会晓; 崔巍; 施秉银

    2016-01-01

    目的:分析甲状腺激素不敏感综合征(THIS)合并自身免疫性甲状腺疾病(AITD)的临床特点。方法回顾性分析2011年9月—2014年4月西安交通大学第一附属医院诊断的5例THIS合并AITD的临床资料,所有患者均进行甲状腺功能、垂体核磁共振、T3抑制试验,明确THIS诊断,并对1例提取外周血DNA进行了TRβ基因突变分析。结果3例患者临床表现为全身代谢缓慢,甲状腺功能检查提示游离T3、T4以及TSH水平明显升高,T3抑制试验提示垂体及外周均对TH抵抗,甲状腺穿刺活检示大量淋巴细胞浸润,滤泡上皮细胞嗜酸性变,吸碘率降低,提示为全身型THIS合并桥本甲状腺炎( HT),给予不同剂量的甲状腺激素治疗后,乏力、畏寒及甲状腺肿大症状均好转;2例患者临床表现为全身代谢加快,游离T3、T4以及TSH水平轻微升高,T3抑制试验提示垂体对TH抵抗,甲状腺穿刺活检活检示滤泡上皮过度增生并淋巴细胞浸润,吸碘率正常,提示垂体型THIS合并HT和GD,仅对症处理后均好转。结论 THIS随病程延长更容易合并AITD,随着患者年龄的增长临床表现及甲状腺功能可能发生变化,临床诊治THIS应考虑合并AITD的可能。%Objective To analyze the clinical features of thyroid hormone insensitive syndrome ( THIS) with autoim-mune thyroid disease ( AITD) .Methods Retrospective analysis of the clinical data of 5 cases of AITD from September 2011 to April 2014 at Xi'an Jiaotong University First Affiliated Hospital, all patients were performed function of thyroid and pituitary magnetic resonance, T 3 inhibition test.DNA beta gene mutation analysis was performed in 1 patients with TR from peripheral blood.Results The clinical manifestations of 3 patients with systemic slow metabolism and thyroid function tests suggest that free T3, T4 and TSH levels were significantly increased, suggesting that the pituitary

  15. Mirizzi Syndrome Type 2: A Case Report

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    Aydemir Ölmez

    2009-01-01

    Full Text Available Mirizzi syndrome is an unusual complication of gallstone disease and occurs in approximately 1% of these pa-tients. Some cases can not be identified preoperatively; despite modern imaging techniques. Today; treatment of Mirizzi syndrome is surgical. If Mirizzi syndrome is pre-sent; the risk of bile duct injury increases; particularly during laparoscopic surgery. Therefore; preoperative or intraoperative diagnosis is important. Here; we pre-sented a 29 year-old woman with obstructive jaundice who diagnosed as cholelithiasis and choledocholithiasis. Preoperative endoscopic retrograde cholangiography re-lieved the common bile duct stone but cound not diag-nosed the Mirizzi syndrome preoperatively. During lapa-roscopy; the diagnosis of Mirizzi syndrome was sus-pected early and the procedure was converted to open cholecystectomy and T-tube to common bile duct. There was no bile duct injury and postoperative course was uneventful.

  16. Treacher Collins syndrome: a case review.

    Science.gov (United States)

    Jensen-Steed, Ginger

    2011-12-01

    Treacher Collins syndrome is named after the English surgeon Edward Treacher Collins, who initially described the syndrome's traits in 1900. This rare autosomal dominant disorder affects approximately 1:50 000 live births. It primarily affects the development of facial structures through a mutation in the TCOF1 gene found at the 5q32-33.1 loci. While common facies and phenotype can be described with this syndrome, the gene has a wide variation of expressivity, thus making the diagnosis of mild cases challenging. This study involves a term female diagnosed with Treacher Collins syndrome, who was also diagnosed with Tracheal Esophageal Fistula. She is expected to be of normal intelligence but, as is typical for Treacher Collins syndrome, has conductive hearing loss and therefore is at risk for developmental delay. This article describes her hospital course and outcomes thus far and is intended to guide the bedside practitioner in recognition and guidance of families in the future.

  17. Anti-Factor V inhibitor in patients with autoimmune diseases: case report and literature review

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    Imashuku S

    2011-04-01

    Full Text Available Shinsaku Imashuku1, Takeshi Hasegawa2, Kagekatsu Kubo2, Masaki Nakato2, Midori Shima31Division of Pediatrics and Hematology, 2Division of Internal Medicine, Takasago-Seibu Hospital, Takasago, Hyogo; 3Department of Pediatrics, Nara Medical University, Kashihara, Nara, JapanAbstract: Acquired anti-Factor V deficiency caused by inhibitor production is a rare coagulation disorder. Although this is a well known entity in the literature, choice of optimal treatment for an individual patient is difficult, given that no standard therapeutic measures are available because of rare incidence and various underlying diseases occurring in the elderly. An 88 year-old man treated for Hashimoto's disease was found to exhibit prolongation of both prothrombin time and activated partial thromboplastin time. Detailed study of coagulation factors revealed a deficiency of Factor V. Our patient's coagulation disorder resolved in two weeks with intravenous administration of prednisolone 20 mg/day. Clinical features of autoimmune disease-related Factor V deficiency are discussed, along with eight previously reported cases over the past 20 years.Keywords: anti-Factor V inhibitor, Hashimoto's thyroiditis, autoimmune disease

  18. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop.

    Science.gov (United States)

    Oliveira, Joao B; Bleesing, Jack J; Dianzani, Umberto; Fleisher, Thomas A; Jaffe, Elaine S; Lenardo, Michael J; Rieux-Laucat, Frederic; Siegel, Richard M; Su, Helen C; Teachey, David T; Rao, V Koneti

    2010-10-07

    Lymphadenopathy in children for which no infectious or malignant cause can be ascertained constitutes a challenging diagnostic dilemma. Autoimmune lymphoproliferative syndrome (ALPS) is a human genetic disorder of lymphocyte apoptosis resulting in an accumulation of lymphocytes and childhood onset chronic lymphadenopathy, splenomegaly, multilineage cytopenias, and an increased risk of B-cell lymphoma. In 1999, investigators at the National Institutes of Health (NIH) suggested criteria to establish the diagnosis of ALPS. Since then, with approximately 500 patients with ALPS studied worldwide, significant advances in our understanding of the disease have prompted the need for revisions to the existing diagnostic criteria and classification scheme. The rationale and recommendations outlined here stem from an international workshop held at NIH on September 21 and 22, 2009, attended by investigators from the United States, Europe, and Australia engaged in clinical and basic science research on ALPS and related disorders. It is hoped that harmonizing the diagnosis and classification of ALPS will foster collaborative research and better understanding of the pathogenesis of autoimmune cytopenias and B-cell lymphomas.

  19. Coffee consumption and the risk of latent autoimmune diabetes in adults--results from a Swedish case-control study.

    Science.gov (United States)

    Löfvenborg, J E; Andersson, T; Carlsson, P-O; Dorkhan, M; Groop, L; Martinell, M; Rasouli, B; Storm, P; Tuomi, T; Carlsson, S

    2014-07-01

    Coffee consumption is associated with a reduced risk of Type 2 diabetes. Our aim was to investigate if coffee intake may also reduce the risk of latent autoimmune diabetes in adults, an autoimmune form of diabetes with features of Type 2 diabetes. We used data from a population-based case-control study with incident cases of adult onset (≥ 35 years) diabetes, including 245 cases of latent autoimmune diabetes in adults (glutamic acid decarboxylase antibody positive), 759 cases of Type 2 diabetes (glutamic acid decarboxylase antibody negative), together with 990 control subjects without diabetes, randomly selected from the population. Using questionnaire information on coffee consumption, we estimated the odds ratio of latent autoimmune diabetes in adults and Type 2 diabetes adjusted for age, sex, BMI, smoking, physical activity, alcohol, education and family history of diabetes. Coffee intake was inversely associated with Type 2 diabetes (odds ratio 0.92, 95% CI 0.87-0.98 per cup/day). With regard to latent autoimmune diabetes in adults, the general trend was weak (odds ratio 1.04, 95% CI 0.96-1.13), but stratification by degree of autoimmunity (median glutamic acid decarboxylase antibody levels) suggested that coffee intake may be associated with an increased risk of high glutamic acid decarboxylase antibody latent autoimmune diabetes in adults (odds ratio 1.11, 95% CI 1.00-1.23 per cup/day). Furthermore, for every additional cup of coffee consumed per day, there was a 15.2% (P = 0.0268) increase in glutamic acid decarboxylase antibody levels. Our findings confirm that coffee consumption is associated with a reduced risk of Type 2 diabetes. Interestingly, the findings suggest that coffee may be associated with development of autoimmunity and possibly an increased risk of more Type 1-like latent autoimmune diabetes in adults. © 2014 The Authors. Diabetic Medicine © 2014 Diabetes UK.

  20. Autoinflammatory syndromes: report on three cases

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    Thais Cunha Matos

    Full Text Available CONTEXT: Autoinflammatory syndromes are diseases manifested by recurrent episodes of fever and inflammation in multiple organs. There is no production of autoantibodies, but interleukins play an important role and acute-phase reactants show abnormalities. Our aim was to report on three cases of autoinflammatory syndromes that are considered to be rare entities. CASE REPORTS: The authors describe the clinical features of three patients whose diagnosis were the following: tumor necrosis factor receptor-associated periodic syndrome (TRAPS, chronic infantile neurological cutaneous articular (CINCA syndrome and familial Mediterranean fever (FMF. All of the patients presented fever, joint or bone involvement and increased acute phase reactants. The genetic analysis confirmed the diagnoses of two patients. The great diversity of manifestations and the difficulties in genetic analyses make the diagnosing of these diseases a challenge.

  1. Cerebral salt wasting syndrome: a case report.

    Science.gov (United States)

    Hegde, R M

    1999-06-01

    A case of hyponatraemia associated with subarachnoid haemorrhage is presented. The provisional diagnosis of an inappropriate antidiuresis was made and treatment with fluid restriction was instituted. However the patient continued to deteriorate as the diuresis continued and the hyponatraemia worsened, resulting in hypovolaema. The salt wasting syndrome was subsequently diagnosed and saline and fludrocortisone (0.2 mg/day) was initiated, reducing the renal salt loss, increasing the plasma sodium and improving the neurological status of the patient. Cerebral salt wasting syndrome is an important and under-recognised cause of hyponatraemia in neurosurgical patients, particularly in patients with subarachnoid hemorrhage. It is essential to differentiate it from the syndrome of inappropriate antidiuretic hormone secretion to avoid complications of hypovolaemia and reduced cerebral perfusion as illustrated by this case. Brain natriuretic peptide may be responsible for this syndrome although this requires further investigation.

  2. Case series on tropical diabetic hand syndrome.

    Science.gov (United States)

    Ezeani, I U; Edo, A E

    2014-01-01

    Tropical diabetic hand syndrome is a term used to describe diabetes complication of the hand affecting people in the tropics. It consists of localized cellulitis with variable swelling and ulceration of the hands, progressive, fulminant hand sepsis and gangrene in extreme cases. This syndrome is not well-recognized and is therefore less frequently reported. The authors describe three different female patients who were known diabetics of varying duration presenting with this syndrome at our tertiary health center and who were successfully managed by both the surgical and medical units. The need for early diagnosis and aggressive management is emphasized.

  3. Three Cases With Inappropriate TSH Syndrome

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    Hatice Sebila Dökmetaş

    2012-12-01

    Full Text Available Inappropriate thyroid-stimulating hormone (TSH syndrome or central hyperthyroidism is a rare disorder characterized by inappropriately normal or elevated levels of TSH and elevated levels of T3 and T4. The syndrome is associated with TSH-secreting pituitary adenoma (TSHoma or thyroid hormone resistance (THR. Thyroid-releasing hormone stimulation test and T3 suppression test can be useful for the differential diagnosis of central hyperthyroidism. In the present study, we report three cases of inappropriate TSH syndrome diagnosed after TRH stimulation and T3 suppression tests. Turk Jem 2012; 16: 105-8

  4. Ohtahara syndrome and IVF: A case report

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    Ashrafi NR

    2000-08-01

    Full Text Available Ohtahara syndrome or ealy infantile epileptic encephalopathy is a rare cause of epileptic seizures during infancy and represents the earliest type of age related symptomatic generalized epilepsies. The main etiologic factor associated with ohtahara syndrome is cerebran dysgenesis. This case was the product of in vitro fertilization (IVF after 18 years of infertility . Neuroimaging findings consisted of diffuse white matter abnormalities, cortical atrophy and hemimegalencephaly. There is a previous report of this syndrome from Canada that was conceived throught IVF. A relation between IVF and the occurrence of Ohtahara synforme needs further observations.

  5. Papillon-Lefevre Syndrome: A Case Report

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    Sanchita Kundu Shabnam Zahir

    2012-07-01

    Full Text Available Papillon-Lefevre Syndrome is a very rare syndrome of autosomal recessiveinheritance characterized by palmer-planter hyperkeratosis and early onset of a severedestructive periodontitis., leading to premature loss of both primary and permanentdentitions.Genetic studies have shown that mutations in the major gene locus ofchromosome 11q14 with loss of function of cathepsin C gene are responsible for thissyndrome. An early diagnosis and intervention can help to preserve teeth and preventtheir premature exfoliation. A clinical case of Papillon- Lefevre syndrome isdiscussed herewith having all of the characteristic features.

  6. An unusual case of nephrotic syndrome

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    M Sahay

    2016-01-01

    Full Text Available Nephrotic syndrome can be rarely due to inherited disorders of enzymes. One such variety is lecithin cholesterol acyltransferase deficiency. It leads to accumulation of unesterified cholesterol in the eye and other organs. We report a case of nephrotic syndrome with cloudy cornea and hypocholesterolemia with foam cells and lipid deposits on renal biopsy. Awareness about this rare disease may help in the early institution of specific measures to prevent progression to end-stage renal disease.

  7. A rare case of the lenz syndrome.

    Science.gov (United States)

    T, Sohil; K, Ketki; M S, Rukmini; K, Nutan; M, Poornima

    2013-02-01

    We are reporting here, a case of the Lenz syndrome in a neonate who was brought to the Paediatric OPD, Kasturba Medical College Hospital, Attavar, Mangalore India, with the complaints of poor suckling since birth and abnormal facial features. Altogether, the characteristic congenital abnormal findings in Lenz syndrome, which comprise of microophthalmia, ear anomalies, microcephaly, skeletal and digital deformities, and urogenital malformations were observed, with an exception of a dental anomaly. Dental abnormalities were not pertinent, as the patient was a neonate.

  8. Primary Antiphospholipid Antibody Syndrome: A Case Report.

    Science.gov (United States)

    Kadeli, Deepak K; Hanjagi, Siddaraya Y

    2015-10-01

    Primary Antiphospholipid antibody syndrome is a rare disease associated with thromboembolic events which may affect either the arterial or the venous vasculature. It presents with an increased risk of thrombosis in pregnant woman leading to repeated fetal losses. We present here a case of primary antiphospholipid antibody syndrome in young women who had previous event of gangrene of toes leading to their amputation and repeated fetal losses.

  9. Marshall-Smith syndrome: case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jin Yong; Lee, Shi Kyung; Cho, In Chul; Han, Chun Hwan [Kangnam General Hosital Public Corporation, Seoul (Korea, Republic of)

    2002-12-01

    Marshall-Smith syndrome is a rare disease, with about 29 cases reported to date. It is characterized by accelerated bony growth and maturation, phalangeal abnormalities (wide middle and narrow distal phalanges), unusual facial features (prominent eyes, bluish sclerae, coarse eyebrows, an upturned nose, hypoplastic facial bones, and shallow orbits), failure to thrive, respiratory difficulties, and psychomotor retardation. This report of the radiologic findings of Marshall-Smith syndrome is, as for as we know, the first to be published in Korea.

  10. Bouveret’s Syndrome: a Case Report

    Directory of Open Access Journals (Sweden)

    Daniel J Warren

    2008-10-01

    Full Text Available

    Bouveret's syndrome is a well known clinical entity; its incidence however, is uncommon.  An unusual complication of cholelithiasis, Bouveret's syndrome should be considered in an elderly patient presenting with acute gastric outlet obstruction.   
    We describe a case of an elderly female patient presenting with acute gastric outlet obstruction secondary to a massive gallstone and discuss the imaging appearances and therapeutic options for this rare condition.

  11. Joubert Syndrome - A Case Report

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    Bandichhode S. T.

    2013-07-01

    Full Text Available Joubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns.Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypoto-nia, oculomotor apraxia, neonatal breathingproblems and mental retardation.

  12. A CASE OF KARTAGENER SYNDROME

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    Pagadpally

    2013-03-01

    Full Text Available INTRODUCTION: Kartagener syndrome is a inherited disorder chara cterised by impaired ciliary dysfunction due to primary ciliary dyskinesi a(PCD along with situs inversus, leading to diverse clinical manifestations like chronic sinopul monary infection, persistent middle ear infection and infertility. We report a young male ch ild with chronic sinopulmonary infection and situs inversus

  13. A Case of Classic Raymond Syndrome

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    Nicholas George Zaorsky

    2012-01-01

    Full Text Available Classic Raymond syndrome consists of ipsilateral abducens impairment, contralateral central facial paresis, and contralateral hemiparesis. However, subsequent clinical observations argued on the presentation of facial involvement. To validate this entity, we present a case of classic Raymond syndrome with contralateral facial paresis. A 50 year-old man experienced acute onset of horizontal diplopia, left mouth drooling and left-sided weakness. Neurological examination showed he had right abducens nerve palsy, left-sided paresis of the lower part of the face and limbs, and left hyperreflexia. A brain MRI showed a subacute infarct in the right mid-pons. The findings were consistent with those of classic Raymond syndrome. To date, only a few cases of Raymond syndrome, commonly without facial involvement, have been reported. Our case is a validation of classic Raymond syndrome with contralateral facial paresis. We propose the concept of two types of Raymond syndrome: (1 the classic type, which may be produced by a lesion in the mid-pons involving the ipsilateral abducens fascicle and undecussated corticofacial and corticospinal fibers; and (2 the common type, which may be produced by a lesion involving the ipsilateral abducens fascicle and undecussated corticospinal fibers but sparing the corticofacial fibers.

  14. Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome

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    Preetha Balaji

    2017-01-01

    Full Text Available Gingival fibromatosis with hypertrichosis syndrome is an extremely rare genetic condition characterized by profound overgrowth of hair and gums, as well as other variable features. Gingival fibromatosis is characterized by a large increase in the gingival dimension which extends above the dental crowns, covering them partially or completely. They were found to have a genetic origin, may also occur in isolation or be part of a syndrome, or acquired origin, due to specific drugs administered systemically. Congenital generalized hypertrichosis is a heterogeneous group of diseases with continuing excessive growth of terminal hair without androgenic stimulation. It has informally been called werewolf syndrome because the appearance is similar to that of a werewolf. Various syndromes have been associated with these features such as epilepsy, mental retardation, cardiomegaly, or osteochondrodysplasia. As so far very few cases have been reported in literature, we are reporting a series of three cases with management of the same. The excess gingival tissues, in these cases, were removed by conventional gingivectomy under general anesthesia. The postoperative result was uneventful and the patient's appearance improved significantly. Good esthetic result was achieved to allow patient to practice oral hygiene measures. Though this is not a serious condition clinically, psychosocial trauma cannot be neglected owing to the cosmetic disfigurement it produces.

  15. [An autopsy case of Goodpasture syndrome preceded with membranous glomerulonephritis].

    Science.gov (United States)

    Takeuchi, K; Takeda, T; Sakai, I; Taneichi, K; Shibaki, H

    1997-12-01

    Goodpasture syndrome (GS) is an autoimmune disorder characterized by the association of pulmonary hemorrhage and rapidly progressive glomerulonephritis. The pathogenesis of GS is still unknown, but was shown to be the result that antibodies directed against glomerular basement membrane (GBM) antigens could injure both glomerular and pulmonary alveolar basement membrane. And membranous glomerulonephritis (MGN) is a glomerular disease characterized by epimembranous immune deposits and basement membrane thickening. MGN typically presents with the onset of nephrotic syndrome, but it often presents with only asymptomatic proteinuria. We reported an autopsy case of GS preceded with MGN. A 70-year-old man was admitted to our hospital with acute renal failure in May 2, 1996. Percutaneous renal biopsy demonstrated a crescentic glomerulonephritis associated with MGN and linear immunofluorescent staining of the basement membrane with antibodies to IgG. Two weeks later on admission he began to develop slight hemoptysis and chest X-ray showed pulmonary hemorrhage, Furthermore, his serum anti-GBM antibodies titer was very high. He was diagnosed as GS associated with MGN and treated with plasma exchange, glucocorticoid, and cyclophosphamide. Though his symptom was improved for intensive support, he suddenly died on June 22. Autopsied lungs showed focal pulmonary hemorrhage, but were not considered to be life-threatening. The cause of the death remained unclear.

  16. Autoimmune pancreatitis complicated by gastric varices: A report of 3 cases

    Institute of Scientific and Technical Information of China (English)

    Norihiro Goto; Jun Mimura; Toshinao Itani; Motohito Hayashi; Yukari Shimada; Tomoaki Matsumori

    2012-01-01

    We present three cases of autoimmune pancreatitis (AIP) complicated by gastric varices.Case 1:A 57-yearold man was diagnosed with AIP complicated by gastric varices and splenic vein obstruction.Splenomegaly was not detected at the time of the diagnosis.The AIP improved using steroid therapy,the splenic vein was reperfused,and the gastric varices disappeared; case 2:A 55-year-old man was diagnosed with AIP complicated by gastric varices,splenic vein obstruction,and splenomegaly.Although the AIP improved using steroid therapy,the gastric varices and splenic vein obstruction did not resolve; case 3:A 68-year-old man was diagnosed with AIP complicated by gastric varices,splenic vein obstruction,and splenomegaly.The gastric varices,splenic vein obstruction,and AIP did not improve using steroid therapy.These three cases suggest that gastric varices or splenic vein obstruction without splenomegaly may be an indication for steroid therapy in patients with AIP because the complications will likely become irreversible over time.

  17. Characterization of direct antiglobulin test-negative autoimmune hemolytic anemia: a study of 154 cases.

    Science.gov (United States)

    Kamesaki, Toyomi; Toyotsuji, Tomonori; Kajii, Eiji

    2013-02-01

    Direct antiglobulin test (DAT)-negative (DAT-)autoimmune hemolytic anemia (AIHA) is empirically thought to show the same clinical conditions as DAT-positive (DAT+)AIHA, with the exception of an adequate amount of red blood cell (RBC)-bound immunoglobulin (Ig)G. We investigated the clinical characteristics of DAT-AIHA in comparison with DAT+AIHA. Of the 582 patients referred to our laboratory with undiagnosed hemolytic anemia, AIHA was clinically diagnosed in 216 patients (DAT-AIHA, n = 154; DAT+AIHA, n = 62). The percentage of reticulocytes, mean corpuscular volume, RBC-IgG levels, white blood cell count, and total protein (TP) levels were significantly higher in patients with DAT+AIHA than patients with DAT-AIHA. The hemoglobin level was significantly lower in patients with DAT+AIHA. No significant differences between patients with DAT-AIHA and DAT+AIHA existed with respect to age, gender, idiopathic/secondary nature, complications such as Evans syndrome, effectiveness of steroid treatment, or survival rate at 1 year following diagnosis. Patients with DAT-AIHA required significantly lower doses of steroids for maintenance therapy. Based on multivariate analysis of idiopathic DAT-AIHA (n = 110), TP and Evans syndrome were associated with the effectiveness of steroids (adjusted odds ratio [aOR], 1.36/[0.1 g/dl]; 95% confidence interval [CI], 1.01-1.84) and survival at the 1-year follow-up (aOR, 0.1; 95% CI, 0.01-0.88). Our results indicate that patients with DAT-AIHA generally suffer milder anemia and hemolysis than patients with DAT+AIHA, respond equally well to steroids, and have comparable survival at 1-year.

  18. Autoimmune progesterone dermatitis in a patient with endometriosis: case report and review of the literature

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    Baldwin James L

    2004-08-01

    Full Text Available Abstract Autoimmune progesterone dermatitis (APD is a condition in which the menstrual cycle is associated with a number of skin findings such as urticaria, eczema, angioedema, and others. In affected women, it occurs 3–10 days prior to the onset of menstrual flow, and resolves 2 days into menses. Women with irregular menses may not have this clear correlation, and therefore may be missed. We present a case of APD in a woman with irregular menses and urticaria/angioedema for over 20 years, who had not been diagnosed or correctly treated due to the variable timing of skin manifestations and menses. In addition, we review the medical literature in regards to clinical features, pathogenesis, diagnosis, and treatment options.

  19. [Coexistence of Celiac Disease and autoimmune hepatitis case study and literature review].

    Science.gov (United States)

    Tagle, Martín; Nolte, Cecilia; Luna, Eduardo; Scavino, Yolanda

    2006-01-01

    The case of a patient who was initially diagnosed with Systemic Lupus Erythematosus, with subsequent documentation of Celiac Disease histologically and serologically is reported. The patient presented elevation of the aminotransferases, upon detection of the Celiac Disease which was initially attributed to the underlying disease. However, despite the complete resolution of her articular symptoms with a gluten-free diet, the liver chemistry abnormalities persisted. This led to consider an autoimmune hepatitis as the cause which was documented with a liver biopsy three months after the diagnosis of the celiac disease and under a strict gluten-free diet. Treatment with prednisone and azathioprine was initiated with complete normalization of aminotransferase levels. We present the sequence of events with the results and a review of the literature.

  20. A Case of Autoimmune Hepatitis and Bisphosphonate-Related Osteonecrosis of the Jaw

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    Y.S. de Boer

    2012-05-01

    Full Text Available Autoimmune hepatitis (AIH is a chronic inflammatory liver disease of unknown aetiology usually requiring long-term immunosuppressive therapy. We present the case of an AIH patient who received long-term corticosteroids and azathioprine. As treatment for concomitant osteoporosis she was also treated with potent intravenous bisphosphonate (BP. This treatment was complicated by the development of BP-related osteonecrosis of the jaw (BRONJ. BRONJ is an uncommon complication of BP treatment regimes that occurs at increased frequency in the presence of other risk factors, including chronic inflammatory conditions. Our patient suffered from a severe and complicated clinical course of BRONJ which, despite adequate therapy, resulted in death of the patient. Here we discuss the risk factors for the development and clinical course of BRONJ in AIH and the implications for management of these patients.

  1. Development of autoimmune hepatitis type I after pulsed methylprednisolone therapy for multiple sclerosis: A case report

    Institute of Scientific and Technical Information of China (English)

    Atsushi Takahashi; Hirornasa Ohira; Yukiko Kanno; Yuta Takahashi; Natsumi Sakamoto; Kyoko Monoe; Hironobu Saito; Kazumichi Abe; Junko Yokokawa; Atsushi Irisawa

    2008-01-01

    A 43-year-old woman with multiple sclerosis (MS) was treated with pulsed methylprednisolone and interferon β at a hospital.Four weeks after initiating treatment,liver dysfunction occurred and she was referred and admitted to our hospital.Clinical and laboratory findings were consistent with and fulfilled the criteria for drug-induced hepatitis,but not for autoimmune hepatitis (AIH).She was successfully treated with corticosteroids.As ataxia developed after 1 year,she was treated with pulsed methylprednisolone for 3 days,then readmitted to our hospital when liver dysfunction occurred.Clinical and laboratory findings led to the diagnosis of A[H.To the best of our knowledge,this is the second case of AIH developed after pulsed methylprednisolone for MS.

  2. Autoimmune/Inflammatory Arthritis Associated Lymphomas: Who Is at Risk?

    OpenAIRE

    2016-01-01

    Specific autoimmune and inflammatory rheumatic diseases have been associated with an increased risk of malignant lymphomas. Conditions such as rheumatoid arthritis (RA), primary Sjögren’s syndrome (pSS), systemic lupus erythematosus (SLE), dermatomyositis, and celiac disease have been consistently linked to malignant lymphomas. Isolated cases of lymphomas associated with spondyloarthropathies and autoinflammatory diseases have also been reported. Direct association between autoimmunity and ly...

  3. Cutaneous anthrax cases leading compartment syndrome

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    Emine Parlak

    2013-12-01

    Full Text Available Bacillus anthracis is the causative agent of anthrax. Anthrax is a zoonotic disease with three clinical forms. Clinical forms are skin, gastrointestinal and inhalational anthrax. Cutaneous anthrax is 95% of the cases. Cutaneous anthrax frequently defines itself. Clinical presentation of anthrax may be severe and complicated in some cases. There may seem complications like meningitis, septic shock and compartment syndrome. Compartment Syndrome is a rare complication of cutaneous anthrax and it is life threatening. Physicians working in the endemic area should be aware of this form. In this study, three cases were shown which developed compartment syndrome following cutaneous anthrax. J Microbiol Infect Dis 2013;3(4: 214-217

  4. Autoimmune hepatitis in children: progression of 20 cases in northern Mexico.

    Science.gov (United States)

    Nares-Cisneros, J; Jaramillo-Rodríguez, Y

    2014-01-01

    Autoimmune hepatitis (AIH) is a chronic inflammatory disease of the liver with nonspecific clinical manifestations that causes greater liver damage in children than in adults. To analyze the clinical progression, biochemical profiles, histopathologic changes, and treatment response in 20 children with AIH. A retrospective study was carried out on the variables associated with clinical progression, diagnosis, and treatment response in children seen at the the Unidad Médica de Alta Especialidad (UMAE) No. 71 IMSS in Torreón, Coahuila, Mexico, from 1992 to 2012. Twenty patients were analyzed, 75% with type 1 AIH (AIH-1) and 25% with type 2 AIH (AIH-2). Girls predominated with a 3:1 ratio of girls to boys. The mean age was 10.07 ± 6.53 years for the AIH-1 cases and 6.75 ± 3.77 years for the AIH-2 cases. There was an association with immunologic diseases in 40% of the patients. The patients in the AIH-2 group had greater biochemical profile alterations and IgA deficiency. Anti-nuclear antibody and anti-smooth muscle antibody were positive in 100% of the patients with AIH-1, and anti-liver kidney microsomal type 1 antibody was positive in 100% of the AIH-2 patients. Liver biopsy revealed interface hepatitis in both groups. The AIH-2 group responded more quickly to treatment, but had a higher recurrence rate. Autoimmune hepatitis in the pediatric patient should be suspected in order to make an early diagnosis and thereby establish opportune treatment. Determining the type of AIH is necessary for making adequate diagnosis and for achieving a better outcome in relation to recurrence and complication rates. Copyright © 2014 Asociación Mexicana de Gastroenterología. Published by Masson Doyma México S.A. All rights reserved.

  5. HAGLUND SYNDROME: A CASE REPORT

    OpenAIRE

    Indira; Prakash; Venkateshwaran,; Shivashankar,; Gowrish

    2015-01-01

    Haglund Syndrome is one of the causes of posterior heel pain. It is the inflammation of the tendoachilles at the calcaneal insertional site and the regional soft tissues. It comprises of insertional Achilles tendinopathy, retrocalcaneal & retroachilles bursitis and posterior calcaneal bony spur. Imaging plays a very important role in the diagnosis as it can be mimicked by several other conditions like isolated retrocalcaneal bursitis, enthesopathies and accessory soleu...

  6. Heerfordt Syndrome: A Case Report

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    Füsun Mayda Domaç

    2010-09-01

    Full Text Available Heerfordt syndrome is a form of neurosarcoidosis with the combination of fever, enlargement of the parotid gland, anterior uveitis, and facial nerve paralysis. We present a 38-year-old female patient who had a solid and painful swelling behind each ear 20 days after the complaints of redness of both eyes, fatigue, night sweat, and weight loss. Three weeks later, right facial paralysis developed, and the patient was seen in our outpatient clinic. On physical examination, bilateral solid and painful masses were observed on the parotid glands. Neurological examination was normal except for the right facial nerve paralysis. Ophthalmologic examination revealed bilateral anterior uveitis. Cranial magnetic resonance imaging was normal. On parotid gland magnetic resonance imaging, enlargement, lobulation and cystic lesions on both parotid glands with heterogeneous contrast involvement were observed. Parotid biopsy showed non-necrotizing granulomatous sialadenitis. There were multiple nodules on both lungs on mediastinum computerized tomography. Laboratory tests revealed: C-reactive protein 0.75 mg/dL, erythrocyte sedimentation rate 26 mm/hour and angiotensin-converting enzyme 83 U/L (N: 8-52 U/L Though the patient, diagnosed as Heerfordt syndrome, had phase 1 sarcoidosis, she was treated with 45 mg/day steroid because of the multiple organ involvement. In conclusion, Heerfordt syndrome, a rare manifestation of neurosarcoidosis, must be kept in mind in the differential diagnosis of facial nerve paralysis.

  7. Antiphospholipid syndrome: A case study

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    Davies, T. [Royal Adelaide Hospital, Adelaide, SA (Australia). Department of Nuclear Medicine

    1998-03-01

    Full text: A forty-two-year-old male presented to the Royal Adelaide Hospital with symptoms of increasing shortness of breath, swelling in both ankles, petechial rash and blood in his sputum. Initial investigations showed cardiomegaly, right ventricular hypertrophy, patchy lung infiltrates, a platelet count of 1500 and a clotting time of 60 seconds. A V/Q scan indicated a high probability of pulmonary embolism. Further investigations showed that the patient was positive for lupus anticoagulant and cardiolipin antibodies. A diagnosis of primary antiphospholipid syndrome was made. The patient``s high risk of strokes and hemorrhaging prompted investigation by a {sup 99}mTc-HMPAO brain scan. Further V/Q scans were performed to follow up the initial finding of multiple pulmonary embolism and a R-L shunt study was performed to investigate a left subclavian murmur. The patient was admitted for four weeks and began treatment which included cyclaphosphamide, corticosteroids and plasmaphoresis and was discharged when stable. Over the next six months he was re admitted three times for relapse of antiphospholipid syndrome. On his fourth admission he collapsed and died five hours after admission. Cause of death was due to cardiac arrhythmia secondary to severe right ventricular hypertrophy and dilation. The effects of antiphospholipid syndrome was believed to be responsible for this outcome.

  8. Prune belly syndrome (sequenze: a case report

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    A. Vani

    2013-04-01

    Full Text Available The Prune Belly syndrome (PBS also known as Eagle Barret syndrome is a rare disorder. It is an abdominal muscles deficiency syndrome characterized by a Triad syndrome i.e. deficiency of abdominal wall muscles, failure of testicular descent and dilation of the urinary tract. This syndrome has derived its name from the wrinkled prune appearance of the abdominal wall. Prune Belly syndrome is a rare anomaly seen in one in 35,000-50,000 live births. It occurs in all races. Prune Belly syndrome almost exclusively occurs in males (M:F, 20:1. The diagnosis can be made in utero by ultrasonography at 21 weeks of gestation or in the Neonate with characteristic clinical findings. The present case was a dead male fetus of 20 weeks of gestation sent to Anatomy department after Medical termination of pregnancy, due to congenital anomalies identified in routine ultrasound examination during antenatal checkup. [Int J Res Med Sci 2013; 1(2.000: 148-152

  9. MOMO syndrome: a possible third case.

    Science.gov (United States)

    Zannolli, R; Mostardini, R; Hadjistilianou, T; Rosi, A; Berardi, R; Morgese, G

    2000-10-01

    This report describes a 5-year-old girl, mildly mentally retarded, with the following characteristics: macrocephaly; severe obesity; ocular abnormalities (right optic disk coloboma and left choroidal coloboma); short stature; and recurvation of the femur. The case is sporadic with no consanguinity between the parents. The condition was diagnosed tentatively as MOMO syndrome (Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities) (MIM, 157980), because of the presence of short stature, in contrast with the large stature of the only two previously described cases. It is the third possible example of this rare syndrome to be described in the literature, with some new clinical findings presented.

  10. [Personage-Turner syndrome--case report].

    Science.gov (United States)

    Tomczykiewicz, Kazimierz; Stepień, Adam; Staszewski, Jacek

    2011-08-01

    Personage-Turner syndrome or acute brachial radiculitis is rare syndrome. In typical cases it was manifested by strong pain of shoulder region and the weakness of muscles which are supplies by individual nerves or part of brachial plexus and in longer time with atrophy. Aetiology of this disease is unknown, probably on the autoimmuno-inflammatory background. Diagnosis is made on the typical clinical picture and in exclusion many illness with impairment brachial plexus. In presented case the course of disease as well as executed investigations suggested that discopathy could be the reason of paresis, however renewed estimation caused the change of the diagnosis.

  11. Secondary silent sinus syndrome:case report

    Institute of Scientific and Technical Information of China (English)

    王绪锐; 赵小冬

    2004-01-01

    @@ Silent sinus syndrome (SSS) is characterized by spontaneous and progressive unilateral enophthalmos with no other symptoms. Maxillary sinus atelectasis displayed on CT will be helpful for clinical diagnosis. The operation for better maxillary sinus ventilation shows good therapeutic effects and prognosis. In 1964, Montgometry1 described the first case of patient whose enophthalmos was caused by mucocele of the maxillary sinus. Since then, all otolaryngologists have taken more and more attention to this syndrome. And by June 2000, a total of 45 cases had been reported worldwide.

  12. Delirious Mania Associated with Autoimmune Gastrothyroidal Syndrome of a Mid-Life Female: The Role of Hashimoto Encephalopathy and a 3-Year Follow-Up including Serum Autoantibody Levels

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    Udo Bonnet

    2016-01-01

    Full Text Available We report the case study of a 57-year-old Caucasian female with steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT, commonly termed Hashimoto encephalopathy (HE. This presentation includes one of the longest lasting follow-up studies of HE considering the neuropsychiatric symptoms (here delirium, mania, and EEG-slowing and their relation to serum autoantibody levels. Antithyroid-peroxidase autoantibodies, the hallmark of autoimmune thyroiditis, were found in the serum and also in the cerebrospinal fluid. Diagnostic analyses found no evidence of limbic encephalopathies characterized by serum antibodies against intracellular, synaptic, or further cell surface antigenic targets, neoplasm, and connective tissue or vasculitis diseases. A potential contribution of bipolar disorder and metabolic encephalopathies due to severe hypothyroidism, glucocorticoid treatment, accelerated thyroid hormone replacement therapy, or vitamin B deficiency is critically discussed. Another special feature of this case report is the linkage of HE to an autoimmune polyendocrine syndrome (type 3B affecting the gastroduodenum in addition to the thyroid gland.

  13. Leucine-Rich Glioma Inactivated-1 and Voltage-Gated Potassium Channel Autoimmune Encephalitis Associated with Ischemic Stroke: A Case Report.

    Science.gov (United States)

    McGinley, Marisa; Morales-Vidal, Sarkis; Ruland, Sean

    2016-01-01

    Autoimmune encephalitis is associated with a wide variety of antibodies and clinical presentations. Voltage-gated potassium channel (VGKC) antibodies are a cause of autoimmune non-paraneoplastic encephalitis characterized by memory impairment, psychiatric symptoms, and seizures. We present a case of VGKC encephalitis likely preceding an ischemic stroke. Reports of autoimmune encephalitis associated with ischemic stroke are rare. Several hypotheses linking these two disease processes are proposed.

  14. Therapeutic apheresis in autoimmune diseases

    Science.gov (United States)

    Bambauer, Rolf; Latza, Reinhard; Bambauer, Carolin; Burgard, Daniel; Schiel, Ralf

    2013-01-01

    Systemic autoimmune diseases based on an immune pathogenesis produce autoantibodies and circulating immune complexes, which cause inflammation in the tissues of various organs. In most cases, these diseases have a bad prognosis without treatment. Therapeutic apheresis in combination with immunosuppressive therapies has led to a steady increase in survival rates over the last 35 years. Here we provide an overview of the most important pathogenic aspects indicating that therapeutic apheresis can be a supportive therapy in some systemic autoimmune diseases, such as systemic lupus erythematosus, antiphospholipid syndrome, rheumatoid arthritis, and inflammatory eye disease. With the introduction of novel and effective biologic agents, therapeutic apheresis is indicated only in severe cases, such as in rapid progression despite immunosuppressive therapy and/or biologic agents, and in patients with renal involvement, acute generalized vasculitis, thrombocytopenia, leucopenia, pulmonary, cardiac, or cerebral involvement. In mild forms of autoimmune disease, treatment with immunosuppressive therapies and/or biologic agents seems to be sufficient. The prognosis of autoimmune diseases with varying organ manifestations has improved considerably in recent years, due in part to very aggressive therapy schemes.

  15. A Case with Cramp-Fasciculation Syndrome

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    Pinar Yalinay Dikmen

    2014-12-01

    Full Text Available Cramp-fasciculation syndrome is one of the peripheral nerve hyperexcitability disorders and presents muscle aching, cramps, stiffness and exercise intolerance. Fasciculation and cramps can be seen both in healthy individuals and in those with fatal diseases, such as Amyotrophic Lateral Sclerosis. We present a 27-year-old male patient, professional soccer player with fasciculations and cramps in  bilateral gastrocnemius-soleus complex. The patient complained about having to stop playing soccer because of muscle cramps and twitches in both calves, which had started 3 years earlier. After completing all laboratory and electrophysiological examinations, the patient was diagnosed as cramp-fasciculation syndrome. The aim of this paper was to present a rare case of cramp-fasiculation syndrome and discuss if the syndrome is benign or pioneer of a severe pathological process.

  16. Rapunzel Syndrome: A Rare Postpartum Case

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    Teshome Tegene

    2013-01-01

    Full Text Available The Rapunzel syndrome describes a disorder in which a significant amount of hair is swallowed, forming a trichobezoar that extends past the stomach into the small intestines. Given the indigestible nature of hair, it subsequently leads to obstruction within the gastrointestinal system. Clinically, patients may present with symptoms of gastrointestinal obstruction, including abdominal complaints such as pain, nausea, vomiting, and diarrhea. However, due to its broad and nonspecific presenting symptoms, the diagnosis of Rapunzel syndrome warrants consideration once other common etiologies have been excluded. Surgical intervention is often required to remove the abdominal mass. This unusual syndrome is often associated with psychiatric disorders, affecting young women most commonly. In this report, we will discuss a unique case of Rapunzel syndrome in a one-month postpartum woman.

  17. Rapunzel syndrome: a rare postpartum case.

    Science.gov (United States)

    Tegene, Teshome; Foda, Yahia; Hussain, Omar; Oloniyo, Kolawole; Ha, Ngoc-Tram; Manikonda, Geeta

    2013-01-01

    The Rapunzel syndrome describes a disorder in which a significant amount of hair is swallowed, forming a trichobezoar that extends past the stomach into the small intestines. Given the indigestible nature of hair, it subsequently leads to obstruction within the gastrointestinal system. Clinically, patients may present with symptoms of gastrointestinal obstruction, including abdominal complaints such as pain, nausea, vomiting, and diarrhea. However, due to its broad and nonspecific presenting symptoms, the diagnosis of Rapunzel syndrome warrants consideration once other common etiologies have been excluded. Surgical intervention is often required to remove the abdominal mass. This unusual syndrome is often associated with psychiatric disorders, affecting young women most commonly. In this report, we will discuss a unique case of Rapunzel syndrome in a one-month postpartum woman.

  18. Autoimmune thyroid disease and other non-endocrine autoimmune diseases

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    Todorović-Đilas Ljiljana

    2011-01-01

    Full Text Available Introduction, Autoimmune diseases are chronic conditions initiated by the loss of immunological tolerance to self-antigens. They constitute heterogeneous group of disorders, in which multiple alterations in the immune system result in a spectrum of syndromes that either target specific organs or affect the body systematically. Recent epidemiological studies have shown a possible shift of one autoimmune disease to another or the fact that more than one autoimmune disease may coexist in a single patient or in the same family. Numerous autoimmune diseases have been shown to coexist frequently with thyroid autoimmune diseases. Autoimmune thyroid disease and other organ specific non-endocrine autoimmune diseases. This part of the study reviews the prevalence of autoimmune thyroid disease coexisting with: pernicious anaemia, vitiligo, celiac disease, autoimmune liver disease, miastenia gravis, alopecia areata and sclerosis multiplex, and several recommendations for screening have been given. Autoimmune thyroid disease and other organ non-specific non-endocrine autoimmune diseases. Special attention is given to the correlation between autoimmune thyroid disease and rheumatoid arthritis, systemic lupus erythematosus, syndrome Sjögren, systemic sclerosis and mixed connective tissue disease. Conclusions. Screening for autoimmune thyroid diseases should be recommended in everyday clinical practice, in patients with primary organ-specific or organ non-specific autoimmune disease. Other­wise, in patients with primary thyroid autoimmune disease, there is no good reason of seeking for all other autoimmune diseases, although these patients have a greater risk of developing other autoimmune disease. Economic aspects of medicine require further analyzing of these data, from cost/benefit point of view to justified either mandatory screening or medical practitioner judgment.

  19. MLASA SYNDROME: A CASE REPORT

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    R. Fallah

    2007-02-01

    Full Text Available AbstractMitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA syndrome is a rare autosomal recessive disorder of oxidative phosphorylation and iron metabolism. The association between myopathy and sideroblastic anemia was initially reported in 1974. Here we report an 8.5 year old boy with normal cognitive function, suffering from chronic progressive weakness in his lower extremities, inability to walk and palor. Microcytic sideroblastic anemia, mild lactic acidosis and inflammatory myopathy (myositis in muscle biopsy was detected and treated; the response to corticosteroid therapy and rehabilitation was excellent and the patient was ambulatory after four months.

  20. MLASA SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    R. Fallah

    2008-11-01

    Full Text Available Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA syndrome is a rare autosomal recessive disorder of oxidative phosphorylation and iron metabolism. The association between myopathy and sideroblastic anemia was initially reported in 1974. Here we report an 8.5 year old boy with normal cognitive function, suffering from chronic progressive weakness in his lower extremities, inability to walk and palor. Microcytic sideroblastic anemia, mild lactic acidosis and inflammatory myopathy (myositis in muscle biopsy was detected and treated; the response to corticosteroid therapy and rehabilitation was excellent and the patient was ambulatory after four months.Keywords:Sideroblastic anemia, Mitochondrial myopathy, Lactic acidosis

  1. HAGLUND SYNDROME: A CASE REPORT

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    Indira

    2015-07-01

    Full Text Available Haglund Syndrome is one of the causes of posterior heel pain. It is the inflammation of the tendoachilles at the calcaneal insertional site and the regional soft tissues. It comprises of insertional Achilles tendinopathy, retrocalcaneal & retroachilles bursitis and posterior calcaneal bony spur. Imaging plays a very important role in the diagnosis as it can be mimicked by several other conditions like isolated retrocalcaneal bursitis, enthesopathies and accessory soleus muscle. Though plain radiograph is the initial modality of investigation, MRI is preferred as it offers superior soft tissue contrast resolution and accurate diagnosis.

  2. Premature Ovarian Failure Syndrome May Be Induced by Autoimmune Reactions to Zona Pellucida Proteins

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    Koyama K

    2006-01-01

    Full Text Available Autoimmunity is thought to be involved in pathogenesis of the premature ovarian failure (POF causing infertility. The zona pellucida (ZP, an extracellular matrix surrounding the oocyte, is considered to be pathogenic among autoantigens, because many contraceptive vaccine research has shown that anti-ZP antibodies impair ovarian function in animal experiments. In this article we describe the importance of ZP in oocyte growth and the possible effects of anti-ZP antibodies on ovarian failure. Clinical experiments were conducted to detect anti-ZP antibodies in POF patients by dot immunoassay and immunofluorescent staining method. Also, as an animal model experiment, we examined whether or not peptide ZP antigens of same-species amino acid sequences could produce autoantibodies reactive to ZP. The results showed that antibodies were produced by immunisation with the antigens and histological examination revealed that the number of growing follicles was considerably reduced. These results conclusively indicated that self-ZP protein is a possible pathogenic antigen for autoimmunity causing POF.

  3. [Pharmacological Tests for Horner Syndrome - Case Report].

    Science.gov (United States)

    Skorkovská, K

    2016-01-01

    The case report presents a patient, who was examined at our department due to anisocoria that was present for more than one year. Besides the anisocoria the patient had no other pathological symptoms. The pupil on the right eye was larger than on the left eye by more than 1mm. Photoreaction was present on both eyes with a dilatation deficit on the left eye. There was also a slight ptosis on the left. The anterior and posterior eye segment was normal, only the iris of the left eye was slightly decoloured. The ophthalmological finding was pointing to Horner syndrome on the left side. The cause of the syndrome was not found. The case report discusses current problems of pharmacological pupillary tests used in Horner syndrome. Alternatives to the standard cocaine test are proposed, with respect to substances currently available in the Czech Republic.

  4. Rett’s syndrome: a case report

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    Soumitra Ghosh

    2015-01-01

    Full Text Available Rett’s syndrome is a neurodevelopmental disorder that occurs almost exclusively in females and has a typically deteriorating course. We describe a case of Rett’s syndrome in a girl of three years. She had normal development till two years of age. She was presented to Psychiatry outpatient department (OPD, Assam Medical College and Hospital (AMCH with loss of her acquired hand skills and speech since last one year. She also developed purposeless stereotypic movements of hands and unable to hold objects in her hands. Gradually she has developed broad based gait and teeth grinding. This has been the first case of Rett’s syndrome reported in North East India and West Bengal.

  5. Chanarin Dorfman Syndrome: A Case Report

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    Yasemin Ozkale

    2015-09-01

    Full Text Available Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in varios types of cells. Observation of lipid vacuoles in neutrophils (Jordan's anomaly in peirpheral blood smears in patients with ichthyosis is diagnostic for Chanarin Dorfman Syndrome. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported in the literature, and the majority were from Middle East countries. In this report we presented a 5 year old patient who admitted to our hospital for creatine kinase elevation and diagnosed as Chanarin Dorfman Syndrome with clinical and laboratory findings. [Cukurova Med J 2015; 40(3.000: 614-618

  6. KLIPPEL TRENAUNAY SYNDROME : A CASE REPORT

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    Sonali

    2015-04-01

    Full Text Available INTRODUCTION: Klippel Trenaunay Syndrome is a rare congenital disorder, but it is the most common condition involving combined vascular malformation. KTS was first described by two French Physicians, Klippel and Trenaunay in 1900. (1 Incidence of KTS reported is approximately 2 to 5 cases per 100, 000 live births. ( 2,3 KTS generally affects a single extremity, although cases of multiple affected limbs have been reported. The leg is most common site followed by the arms, the trunk, and rarely the head and neck. The original description of KTS included limb hypertrophy, varicose veins and vascular (Port wine nevus, which were characterised as a clinical triad. Hemangiomatosis is the most frequent finding in these patients and is usually present at birth . ( 4 KTS is also known as angio - osteohypertrophy syndrome, congenital dysplastic angiopathy or klippel trenaunay weber syndrome.

  7. A case of focal autoimmune pancreatitis (AIP) mimicking an intraductal papillary mucinous neoplasm (IPMN).

    Science.gov (United States)

    Nakaji, So; Hirata, Nobuto; Fujii, Hiroyuki; Iwaki, Kosuke; Shiratori, Toshiyasu; Kobayashi, Masayoshi; Wakasugi, Satoshi; Ishii, Eiji; Takeyama, Hiroyuki; Hoshi, Kazuei

    2013-08-01

    The present case involved a 76-year-old man with a cystic mass in the head of his pancreas. The cystic lesion, which measured 17.7 × 9.8 mm, was first detected by ultrasonography (US) at the age of 72 years. Follow-up endoscopic ultrasonography (EUS) performed at 4 years after the lesion had first been detected revealed a mural nodule measuring 14.0 × 8.4 mm in the cyst. Endoscopic retrograde pancreatography (ERP) imaging revealed that the main pancreatic duct was in communication with the cyst and that there was no irregular narrowing of the main pancreatic duct. On the basis of these results, the patient was diagnosed with an intraductal papillary mucinous neoplasm (IPMN), and stomach-preserving pancreaticoduodenectomy was performed. A histopathological examination revealed that the interior of the cystic part of the lesion was lined by a pancreatic ductal epithelium. A pathological examination of the nodular lesion detected storiform fibrosis, severe lymphoplasmacytic infiltration, and hyperplasia in the pancreatic duct epithelium together with a small amount of mucus. On immunohistological staining, the infiltrating lymphoplasmacytes were found to be positive for IgG4. Accordingly, the patient was diagnosed with focal autoimmune pancreatitis (AIP). In conclusion, we reported a case of focal AIP mimicking IPMN. This case showed neither enlargement of the pancreas nor irregular narrowing of the main pancreatic duct.

  8. Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1

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    Øyvind Bruserud

    2017-09-01

    Full Text Available ObjectiveAutoimmune polyendocrine syndrome type 1 (APS-1 is a rare, childhood onset disease caused by mutations in the autoimmune regulator (AIRE gene. Chronic mucocutaneous candidiasis (CMC is one of the three major disease components and is, to date, mainly explained by the presence of neutralizing auto-antibodies against cytokines [interleukin (IL-17A, IL-17F, and IL-22] from T helper 17 cells, which are critical for the protection against fungal infections. However, patients without current auto-antibodies also present CMC and we, therefore, hypothesized that other immune mechanisms contribute to CMC in APS-1.MethodsWhole blood was stimulated with Candida albicans (C. albicans in a standardized assay, and immune activation was investigated by analyzing 46 secreted immune mediators. Then, peripheral blood mononuclear cells were stimulated with curdlan, a Dectin-1 agonist and IL-23 inducer, and the IL-23p19 response in monocytes was analyzed by flow cytometry.ResultsWe found an altered immune response in APS-1 patients compared with healthy controls. Patients fail to increase the essential ILs, such as IL-2, IL-17A, IL-22, and IL-23, when stimulating whole blood with C. albicans. A significantly altered IL-23p19 response was detected in patients’ monocytes upon stimulation with curdlan.ConclusionAPS-1 patients have an altered immune response to C. albicans including a dysregulation of IL-23p19 production in monocytes. This probably contributes to the selective susceptibility to CMC found in the majority of patients.

  9. [Kearns-Sayre syndrome: two case reports].

    Science.gov (United States)

    Zago Filho, Luiz Alberto; Shiokawa, Naoye

    2009-01-01

    Two cases in which patients had progressive loss of visual acuity in four years and eight months respectively are described. Clinical examination revealed fundoscopic alterations of the retina, pigment epithelium and choriocapillaris showing marked atrophy. The clinical picture resembles Kearns-Sayre syndrome. Etiological investigation is fundamental, because most of time this condition is associated with more serious systemic complications which need specific care.

  10. Hermansky-Pudlak syndrome: A case report

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    R Vani

    2014-01-01

    Full Text Available Hermansky-Pudlak syndrome (HPS is a rare autosomal recessive disorder, which results in oculocutaneous albinism, bleeding disorders, and storage of abnormal fat protein compound (liposomal accumulation of ceroid lipofuscin. The major complications of this disorder are pulmonary fibrosis (PF and colitis. This is a case report of an HPS patient with PF.

  11. Dyke Davidoff Masson Syndrome: A case report

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    More Sumeet S, Jadhav Aravinash L, Garkal Shailendra M, Tewari Suresh C

    2013-04-01

    Full Text Available Dyke-Davidoff-Masson syndrome (DDMS is characterized by seizures, facial asymmetry, contralateral hemiplegia and mental retardation. The characteristic radiologic features are cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses. We report a case of DDMS in an 18years old girl who presented with a history of generalized tonic – clonic seizures, hemiparesis and hemiatrophy of right side.

  12. [Plummer-Vinson syndrome: a case report].

    Science.gov (United States)

    Dias, Iana Silva; Costa, Francisco Assis; Borges, Alana Costa; Correia, Edenilce Evangelista; Macedo, Márcio Falcão

    2013-01-01

    We present a case of Plummer-Vinson syndrome, which is a rare condition nowadays. The diagnosis was made after years of the disease, many doctors having attended the patient. The treatment consisted of oral supplementation of iron and endoscopic dilatations. The patient is asymptomatic.

  13. Anesthesic Management for Escobar Syndrome: Case Report

    OpenAIRE

    Ayse Hande Arpaci; Fusun Bozkirli; Onur Konuk

    2011-01-01

    Escobar syndrome is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, cleft palate, decreased lung capacity, genital abnormalities, and spinal deformity. In this case, we presented the anesthesic management of a 2-year-old child undergoing frontal sling operation for ptosis and amblyopia etiology exploration.

  14. Anesthesic management for escobar syndrome: case report.

    Science.gov (United States)

    Arpaci, Ayse Hande; Bozkirli, Fusun; Konuk, Onur

    2011-01-01

    Escobar syndrome is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, cleft palate, decreased lung capacity, genital abnormalities, and spinal deformity. In this case, we presented the anesthesic management of a 2-year-old child undergoing frontal sling operation for ptosis and amblyopia etiology exploration.

  15. ALPORT’S SYNDROME: A CASE REPORT

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    Vishal

    2013-01-01

    Full Text Available ABSTRACT: Alport's syndrome is considered to be a widespread di sorder of basement membrane, clinically characterised by haematuric ne phritis, sensorineural deafness and ocular manifestations. Here we report a case of Alport’s syn drome with all the characteristic features

  16. Unusual case of adult hemophagocytic syndrome

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    Babak Tamizifar

    2014-01-01

    Full Text Available Hemophagocytic syndrome (HPS is an uncommon manifestation in systemic lupus erythematosus (SLE. Clinical features of HPS include fever, pancytopenia, abnormal liver enzyme, hepatosplenomegaly, lymphadenopathy, and coagulation disorder. HPS comprises primary and reactive forms. Herein, we describe a case of untreated SLE with HPS as one of the first manifestations of systemic Lupus.

  17. A Case of Bardet-Biedl Syndrome

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    katayon Etemadi

    2007-09-01

    Full Text Available Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnormalities and hypogonadism. Renal failure is the major cause of death in homozygote patients, with chronic glomerolopathy that cause chronic renal disease. Secondary features are: speech disorder delay, developmental delay, polyuria, diabetes mellitus and hypertension. The diagnosis of Bardet- Biedl syndrome is established by clinical findings. Twelve genes are known to be associated with Bardet Biedl syndromes: BBS1, BBS2… BBS12. Case presentation: In this article we report a four and half year old boy that have Bardet Biedl syndrome as a result of a consanguine marriage (third degree. Conclusion: A monogenic syndrome such as Bardet Biedl has a lot of symptoms. These symptoms are out put of a mutation in locus of a recessive allel. Therefore people like to marry consanguinly have to do genetic counseling before marriage. Because analysis of family history will reduced the risk of such syndromes.

  18. Neuropsychiatric autoimmune encephalitis without VGKC-complex, NMDAR, and GAD autoantibodies: case report and literature review.

    Science.gov (United States)

    Najjar, Souhel; Pearlman, Daniel; Devinsky, Orrin; Najjar, Amanda; Nadkarni, Siddhartha; Butler, Tracy; Zagzag, David

    2013-03-01

    We report a patient with a seronegative autoimmune panencephalitis, adding a subtype to the emerging spectrum of seronegative autoimmune encephalitis, and we review the sparse literature on isolated psychiatric presentations of autoimmune encephalitis. (A PubMed search for "seronegative autoimmune encephalitis," "nonvasculitic autoimmune inflammatory meningoencephalitis," and related terms revealed VGKC)-complex, N-methyl-D-aspartate receptor (NMDAR), and glutamic acid decarboxylase (GAD) autoantibodies. We excluded genetic, metabolic, paraneoplastic, degenerative, and infectious etiologies. The patient's symptoms remitted fully with immune therapy, but recurred in association with widespread bihemispheric brain lesions. Brain biopsy revealed mild nonvasculitic inflammation and prominent vascular hyalinization. Immune therapy with plasma exchanges cleared the MRI abnormalities but, 10 years after onset, the patient still suffers neuropsychiatric sequelae. We conclude that autoimmune panencephalitis seronegative for VGKC-complex, NMDAR, and GAD autoantibodies is a subtype of autoimmune encephalitis that can present with pure neuropsychiatric features and a normal brain MRI. Immunologic mechanisms may account for psychiatric symptoms in a subset of patients now diagnosed with classical psychotic disorders. Delay in starting immune therapy can lead to permanent neuropsychiatric sequelae. We propose a standardized classification system for the autoimmune encephalitides, integrating earlier pathology-oriented terms with more recently defined serologic and clinical phenotypes.

  19. Paedatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infection in an Indian Adolescent--A Case Report

    Science.gov (United States)

    Sharma, Sachin; Vaish, Supriya; Chopra, Saurabh; Singh, Vindyaprakash; Sharma, Priyanka

    2012-01-01

    Pediatric Autoimmune Neuropsychiatric Disorders associated with Streptococcal infection (PANDAS) is a unique constellation of signs and symptoms that exist in a subset of children with rapid onset or exacerbation of obsessive-compulsive disorder (OCD) and/or tic disorders due to an initial autoimmune reaction to a Group A Beta Hemolytic…

  20. Ambras syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    A Ishita

    2016-01-01

    Full Text Available Congenital generalized hypertrichosis associated with gingival hyperplasia are rare cases published in literature. The frequency incidence of generalized congenital hypertrichosis is about one to billions of people. Hypertrichosis and gingival hyperplasia are termed as Ambras syndrome (AS, which can be noticed at birth or soon after. Here, is a rare case report of 4-year-old male child who presented with generalized hypertrichosis with gingival fibromatosis and dysmorphic facial features.

  1. Posterior reversible encephalopathy syndrome (PRES, an acute neurological syndrome due to reversible multifactorial brain edema: a case report

    Directory of Open Access Journals (Sweden)

    Camilla Cicognani

    2013-04-01

    Full Text Available Background: The essential features of Posterior Reversible Encephalopathy Syndrome (PRES are headache, mental changes, seizures, visual symptoms and often arterial hypertension. Brain RMN typically shows cortico-sottocortical parieto-occipital edema, with a bilateral and symmetric distribution. PRES develops in clinical conditions as hypertensive encephalopathy, preeclampsia/ eclampsia, autoimmune diseases, after transplantation, infections and as an adverse effect of immunosuppressive drugs or chemotherapy. It usually completely reverses with treatment, although permanent sequelae are possible in case of delayed or missed diagnosis. Case report: We describe the case of a transsexual (M!F and tetraplegic patient, admitted for neck and low back pain. She suddenly developed headache, confusion, seizures and severe hypertension with normal blood tests. RMN showed multiple cortico-sottocortical areas of vasogenic and citotoxic edema in temporo-occipital, parietal, frontal, and cerebellar regions. Soon after the beginning of the antihypertensive therapy, clinical recovery was observed, as well as the disappearance of edema at RMN. Discussion and conclusions: Although PRES is usually associated with definite pathological conditions, it is not always the case, as was for the patient here described, who had no predisposing factors in her past clinical history, and presented hypertension only in the acute phase of the syndrome. Since, moreover, PRES usually presents with acute non specific features and it can be misdiagnosed with other serious diseases, the clinician will be helped by the knowledge of this syndrome to promptly start diagnostic workup and treatments, and avoid permanent neurological deficits.

  2. Familial Mediterranean fever (FMF) and Sjögren’s syndrome: A case responding to azathioprine treatment

    OpenAIRE

    Şahin, Ali; Erten, Şükran; Şahin, Mehtap; Koçarslan, Sezen; Türesin, Ahmet

    2015-01-01

    SUMMARYSjögren’s syndrome (SS) is a chronic, autoimmune, systemic exocrinopathy and extraglandular manifestations can be seen in the course of the disease. Vasculitic skin lesions can rarely be seen in patients. Familial Mediterranean fever (FMF) is a familial, recurrent, autoinflammatory disease which is seen mostly in young people and characterized by self-limiting attacks responding to colchicine treatment. However, resistance to colchicine might be seen in some cases. Coexistence of FMF a...

  3. Neuropsychiatric Symptoms as The First Manifestation of Juvenile Systemic Lupus Erythematosus: A Complicated Case with Klinefelter’s Syndrome

    OpenAIRE

    Reza SHIARI; HASSASE YEGANE, Mehrnoush; Farivar, Shirin; JAVADI PARVANEH, Vadood; Seyed Alireza MIRJAVADI

    2014-01-01

    How to Cite This Article: Shiari R, Hassase Yegane M, Farivar S, Javadi Parvaneh V, Mirjavadi SA. Neuropsychiatric symptoms as the first manifestation of Juvenile Systemic Lupus Erythematosus: A complicated case with Klinefelter’s syndrome. Iran J Child Neurol. 2014 Winter; 8(1):62-65.AbstractSystemic Lupus Erythematosus (SLE) is an autoimmune, multisystem disorder with various manifestations. There are limited reports on the neuropsychiatric findings as the first manifestation of SLE in chil...

  4. [Autoimmune thyroid disease and other non-endocrine autoimmune diseases].

    Science.gov (United States)

    Dilas, Ljiljana Todorović; Icin, Tijana; Paro, Jovanka Novaković; Bajkin, Ivana

    2011-01-01

    Autoimmune diseases are chronic conditions initiated by the loss of immunological tolerance to self-antigens. They constitute heterogeneous group of disorders, in which multiple alterations in the immune system result in a spectrum of syndromes that either target specific organs or affect the body systematically. Recent epidemiological studies have shown a possible shift of one autoimmune disease to another or the fact that more than one autoimmune disease may coexist in a single patient or in the same family. Numerous autoimmune diseases have been shown to coexist frequently with thyroid autoimmune diseases. AUTOIMMNUNE THYROID DISEASE AND OTHER ORGAN SPECIFIC NON-ENDOCRINE AUTOIMMUNE DISEASES: This part of the study reviews the prevalence of autoimmune thyroid disease coexisting with: pernicious anaemia, vitiligo, celiac disease, autoimmune liver disease, miastenia gravis, alopecia areata and sclerosis multiplex, and several recommendations for screening have been given. AUTOIMMUNE THYROID DISEASE AND OTHER ORGAN NON-SPECIFIC NON-ENDOCRINE AUTOIMMUNE DISEASES: Special attention is given to the correlation between autoimmune thyroid disease and rheumatoid arthritis, systemic lupus erythematosus, syndrome Sjögren, systemic sclerosis and mixed connective tissue disease. Screening for autoimmune thyroid diseases should be recommended in everyday clinical practice, in patients with primary organ-specific or organ non-specific autoimmune disease. Otherwise, in patients with primary thyroid autoimmune disease, there is no good reason of seeking for all other autoimmune diseases, although these patients have a greater risk of developing other autoimmune disease. Economic aspects of medicine require further analyzing of these data, from cost/benefit point of view to justified either mandatory screening or medical practitioner judgment.

  5. Delusional Misidentification Syndromes and Paranoid Schizophrenia: Case Report

    OpenAIRE

    Teresa Sousa-Ferreira; Tânia Moreira; Márcia Mendes; Sérgio Ferreira

    2016-01-01

    Background: Delusional misindentification syndromes are divided into Capgras syndrome, Fregoli syndrome, subjective double syndrome and intermetamorphosis syndrome. The main feature is a failure to identify itself  and/or others. These phenomena are relatively rare, etiologically heterogeneous and occur mainly in the setting of schizophrenic disorder, affective disorders and organic diseases. Aims: Present a case report of a patient with three delusional misindentification syndromes and r...

  6. [One case report of SAPHO syndrome and literature review].

    Science.gov (United States)

    Liu, Rui; Liu, Xiang Yuan

    2008-12-18

    To study the clinical features and diagnosis of synovitis, acne, pustulosis, hyperostosis, osteitis syndrome (SAPHO) syndrome. One case of SAPHO syndrome was reported and the related data of SAPHO syndrome were reviewed. The main clinical features of the patient were articulatio carpi synovitis, acne, cervical rib hyperostosis, articulatio sternoclavicularis and osteitis, So the diagnosis of SAPHO syndrome was made. Though SAPHO syndrome is rare with yet unknown prevalence, it still can be seen in clinical practice, and can be diagnosed by careful examination.

  7. Parry Romberg syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Raj Kumar Badam

    2014-01-01

    Full Text Available The Parry Romberg syndrome (PRS is a rare neurocutaneous disorder characterized by progressive facial hemiatrophy. Parry Romberg syndrome is characterized by a slow progressive atrophy that appears in the early stages of life, primarily affecting the subcutaneous tissue and subjacent fat on one side of the face. Dental findings include delayed tooth eruption, retarded root formation, root resorption, oligodontia, microdontia, dilacerations, pulp stones, reduction in the height and width of the ramus and body of the mandible, and delayed mandibular angular development. We describe the case of a 24-year-old female patient with stabilized, moderate, facial hemiatrophy on the right side of her face with a varied presentation.

  8. Ascher's syndrome: A rare case report.

    Science.gov (United States)

    Chandravanshi, Shivcharan Lal; Mishra, Vinay

    2015-03-01

    An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, bifid uvula, sensorineural deafness and double upper lip. Clinical examination of the thyroid, thyroid hormone assay and ultrasonography revealed normal thyroid gland structure and function. Ascher's syndrome was diagnosed. To our knowledge, this is the first reported case of Ascher's syndrome associated with iris coloboma, heterochromia iridum, and narrowing of horizontal palpebral fissure and decreased outer intercanthal distance secondary to lengthening of lateral canthal ligament.

  9. Sturge-Weber syndrome: A case study.

    Science.gov (United States)

    Welty, Linda D

    2006-01-01

    Sturge-Weber syndrome (SWS) is a rare, sporadic, progressive, congenital syndrome. In its complete trisymptomatic form, SWS is physically characterized by port-wine stains over the trigeminal area, leptomeningeal angiomas usually over the parieto-occipital region, and eye abnormalities. Clinical manifestation for infants with SWS depends on the affected organs, but can include seizures, mental retardation, and glaucoma. This article begins with a case presentation of an infant with SWS and then presents the etiology, embryology, pathophysiology, clinical presentation, management, and prognosis of SWS.

  10. Gorlin’s syndrome: Atypical case report

    Directory of Open Access Journals (Sweden)

    Sanjay N. Agrawal

    2014-10-01

    Full Text Available Gorlin syndrome or basal cell nevus syndrome (BCNS is a rare autosomal dominant disorder. The condition appears to have complete penetrance and variable expressivity, which makes clinilcal presentation among families variable. All known BCNS carry mutations in PATCHED gene. A 65 years old male patient presented with complaints of characteristic skin lesions on his face, back, palms since early adulthood. The lesions were pigmented nodules with characteristic border. The histopathology showed characteristic features suggestive of Basal Cell Carcinoma (BCC. This case was atypical due to appearance of lesions quite later in life.

  11. Nicolau Syndrome after Intramuscular Injection: 3 Cases

    Directory of Open Access Journals (Sweden)

    Seok-Kwun Kim

    2012-05-01

    Full Text Available Nicolau syndrome is a rare complication of intramuscular injection consisting of ischemic necrosis of skin, soft tissue, and muscular tissue that arises locoregionally. The characteristic pattern is pain around the injection site, developing into erythema, a livedoid dermatitis patch, and necrosis of the skin, subcutaneous fat, and muscle tissue. Three patients were injected with drugs (diclofenac sodium, ketoprofen, meperidine for pain relief. Three patients complained of pain, and a skin lesion was observed, after which necrosis developed on their buttocks. Each patient underwent debridement and coverage. The wound healed uneventfully. We report three cases of Nicolau syndrome in the buttocks following diclofenac intramuscular injection.

  12. Ascher's syndrome: A rare case report

    Science.gov (United States)

    Chandravanshi, Shivcharan Lal; Mishra, Vinay

    2015-01-01

    An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, bifid uvula, sensorineural deafness and double upper lip. Clinical examination of the thyroid, thyroid hormone assay and ultrasonography revealed normal thyroid gland structure and function. Ascher's syndrome was diagnosed. To our knowledge, this is the first reported case of Ascher's syndrome associated with iris coloboma, heterochromia iridum, and narrowing of horizontal palpebral fissure and decreased outer intercanthal distance secondary to lengthening of lateral canthal ligament. PMID:25971175

  13. Recurrent Miller fisher syndrome : a case report.

    Directory of Open Access Journals (Sweden)

    Sitajayalakshmi S

    2002-07-01

    Full Text Available Miller fisher syndrome (MFS is a variant of Guillain-Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with MFS. A case with two episodes of MFS within four years is reported. He presented with findings of ophthalmoplegia, ataxia, areflexia, and oropharyngeal weakness and mild distal sensory impairment during both episodes. Electrophysiological findings showed reduced compound muscle action potentials and sensory nerve action potentials with no evidence of conduction blocks. Nerve biopsy showed segmental demyelination. MRI of brain was normal. He responded well to immunoglobulins during both episodes suggesting that immunomodulating drugs have a role in the treatment of MFS.

  14. A Milk-Free Diet Downregulates Folate Receptor Autoimmunity in Cerebral Folate Deficiency Syndrome

    Science.gov (United States)

    Ramaekers, Vincent T.; Sequeira, Jeffrey M.; Blau, Nenad; Quadros, Edward V.

    2008-01-01

    In cerebral folate deficiency syndrome, the presence of autoantibodies against the folate receptor (FR) explains decreased folate transport to the central nervous system and the clinical response to folinic acid. Autoantibody crossreactivity with milk FR from different species prompted us to test the effect of a milk-free diet. Intervention with a…

  15. Aquaporin-4 IgG autoimmune syndrome and immunoreactivity associated with thyroid cancer

    DEFF Research Database (Denmark)

    Soelberg, Kerstin; Larsen, Stine Rosenkilde; Mørch, Marlene

    2016-01-01

    Tumor cells can express so-called onconeural antigens, which are normally restricted to mature neurons and glial cells in the CNS.1 The detection of neural-reactive immunoglobulin G (IgG) aids the diagnosis of paraneoplastic neurologic syndromes (PNS)1; however, the diagnostic utility and potenti...

  16. A Milk-Free Diet Downregulates Folate Receptor Autoimmunity in Cerebral Folate Deficiency Syndrome

    Science.gov (United States)

    Ramaekers, Vincent T.; Sequeira, Jeffrey M.; Blau, Nenad; Quadros, Edward V.

    2008-01-01

    In cerebral folate deficiency syndrome, the presence of autoantibodies against the folate receptor (FR) explains decreased folate transport to the central nervous system and the clinical response to folinic acid. Autoantibody crossreactivity with milk FR from different species prompted us to test the effect of a milk-free diet. Intervention with a…

  17. Stewart-Treves syndrome: case report

    Energy Technology Data Exchange (ETDEWEB)

    Andrade, Wesley Pereira [Hospital A.C. Camargo, Sao Paulo, SP (Brazil). Mastology Dept.], e-mail: wesley.andrade@hotmail.com; Aguiar Junior, Samuel; Lopes, Ademar [Hospital A.C. Camargo, Sao Paulo, SP (Brazil). Pelvic Surgery Dept.; Batista, Ranyell Matheus Spencer S.; Ribeiro, Marcio Ventura [Hospital A.C. Camargo, Sao Paulo, SP (Brazil)

    2008-07-01

    In 1948 Stewart and Treves described a syndrome related to the association between lymphangiosarcoma and chronic lymphedema due to radical mastectomy and radiotherapy. Currently, literature data reveals around 400 published cases. However, this pathology is becoming each time rarer due to the growing indication of conservative breast surgery and sentinel lymphonode research, thus reducing the need of axillary lymph node dissection with subsequent lymphedema. Described will be the case of a woman that developed angiosarcoma in shoulder 17 years after mastectomy with adjuvant radiotherapy.Stewart-Treves syndrome is related to the rise of angiosarcoma in patients with chronic lymphedema. It is currently treated as a rare disease. We describe the case of a woman who developed angiosarcoma in shoulder 17 years after mastectomy with adjuvant radiotherapy. (author)

  18. Cerebral Venous Thrombosis Revealing Primary Sjögren Syndrome: Report of 2 Cases

    Directory of Open Access Journals (Sweden)

    A. Mercurio

    2013-01-01

    Full Text Available Sjögren syndrome (SS is an autoimmune disease of the exocrine glands, characterized by focal lymphocytic infiltration and destruction of these glands. Neurologic complications are quite common, mainly involving the peripheral nervous system (PNS. The most common central nervous system (CNS manifestations are myelopathy and microcirculation vasculitis. However, specific diagnostic criteria for CNS SS are still lacking. We report two cases of primary SS in which the revealing symptom was cerebral venous thrombosis (CVT in the absence of genetic or acquired thrombophilias.

  19. EDWARDS SYNDROME: AUTOPSY REPORT OF TWO CASES

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    Arpitha Chinnarappa

    2016-03-01

    Full Text Available BACKGROUND The Trisomy 18 syndrome (Edwards syndrome is an autosomal disorder due to the presence of an extra chromosome on chromosome 18. It is a rare genetic disorder involving multiple organ systems. The recognizable features of syndrome include prenatal and postnatal growth retardation, characteristic craniofacial features, distinctive hand posture, short sternum and major malformations of heart & kidney. Ultrasound is useful in the early antenatal detection and helps to minimize the trauma related to the termination of pregnancy at advanced gestation. Autopsy is useful in finding new anomalies and confirming antenatal ultrasonographic findings. Here we illustrate two case reports with phenotypic features, autopsy findings and brief review of literature. Genetic counselling regarding the risk of recurrence in future pregnancies is essential.

  20. Kinsbourne syndrome: Report of a case

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    Paredes-Ebratt, Ángela María

    2017-01-01

    Full Text Available Kinsbourne syndrome, also known as “Opsoclonus-myoclonus syndrome” or “Dancing eyes syndrome” is a rare condition characterized by rapid, irregular, multi-directional eye movements (opsoclonus, myoclonic movements in the trunk, face and/or limbs and ataxia. It occurs in children aged between 6 and 36 months. Its etiology may be paraneoplasic (neuroblastoma, non-paraneoplasic (infectious processes or idiopathic. Regardless of its etiology, immunosuppressive drugs have been used in order to reduce the formation of antibodies possibly involved in the pathophysiology. We report the case of a 21 month-old girl with this syndrome secondary to an infectious respiratory illness. She had ataxia, opsoclonus, upper limbs myoclonus, irritability and altered sleep pattern. Neuroblastoma was ruled out. Initial management was done with methylprednisolone pulses, followed by oral prednisolone. She had progressive clinical improvement, and is currently asymptomatic with no sequelae. In these patients a paraneoplasic syndrome should always be ruled out.

  1. A case of Lenz microphthalmia syndrome.

    Science.gov (United States)

    Ozkinay, F F; Ozkinay, C; Yüksel, H; Yenigun, A; Sapmaz, G; Aksu, O

    1997-07-01

    Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinal features of the syndrome are microphthalmia or anophthalmos, narrow shoulders, other skeletal anomalies, and dental and urogenital malformations. Here we present a case of Lenz microphthalmia syndrome who shows the typical characteristics and, additionally, dysgenesis of the corpus callosum associated with dilatation of the lateral ventricles. The patient, a 13 year old male, was referred to our hospital by a dental hospital for genetic counselling. On physical examination, height, weight, and head circumference were below the 3rd centile and he had brachymicrocephaly, a preauricular tag, microphthalmia, missing teeth, narrow shoulders, long, proximally placed thumbs, hypospadias, cryptorchidism, and a normal IQ. Ophthalmological examination showed microcornea, sclerocornea, absence of the pupil, no vision in the left eye and decreased vision and a small pupil in the right eye in addition to his bilateral microphthalmia. Cranial MRI showed dilatation of the lateral ventricles and dysgenesis of the corpus callosum.

  2. A Case of Laugier-Hunziker Syndrome.

    Science.gov (United States)

    Kim, Eun Jung; Cho, Sang Hyun; Lee, Jeong Deuk

    2008-09-01

    Laugier-Hunziker syndrome is a rare idiopathic acquired hyperpigmentation of oral mucosa and lips which is often associated with longitudinal melanonychia. This condition is known to be an entirely benign disease with no systemic manifestations. Herein we report a case of a 54-year-old woman presenting with a 7-year history of asymptomatic oral pigmentation and linear pigmented streaks of several fingernails. Histological examination taken from the mucosal lesion of tongue revealed increased pigmentation at the epithelial basal layer and a few melanophages in the submucosa. The lack of a family history coupled with the absence of any polyps on the endoscopic examinations of upper and lower bowel as well as the clinical features with late onset were all in favor of a diagnosis of Laugier-Hunziker syndrome. The significance of this disease is due to the need to differentiate this disorder from other pigmentary disorders of the oral mucosa, especially Peutz-Jeghers syndrome.

  3. Gorlin Goltz syndrome: A clinicopathological case report

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    Shobha C Bijjaragi

    2014-01-01

    Full Text Available The Gorlin-Goltz syndrome is an infrequent multisystemic disease, which is inherited in an autosomal dominant manner. This shows a high level of penetrance and variable expressiveness, characterized by multiple basal cell nevi or carcinomas, odontogenic keratocysts, palmar and / or plantar pits, calcification of the falx cerebri, and is occasionally associated with internal malignancies. It is fundamental to know the major and minor criteria for the diagnosis and early preventive treatment of this syndrome. Here we report a case of a 30-year-old male with major and minor features of the Gorlin-Goltz syndrome, such as, strabismus, barrel-shaped chest, with drooping shoulders and mild kyphosis, polydactyly, hypertelorism, multiple basal cell carcinomas, calcification of the falx cerebri, C5-C7 bifida spine, and fusion of T1 and T2.

  4. An unusual association of three autoimmune disorders: celiac disease, systemic lupus erythematosus and Hashimoto's thyroiditis.

    Science.gov (United States)

    Boccuti, Viera; Perrone, Antonio; D'Introno, Alessia; Campobasso, Anna; Sangineto, Moris; Sabbà, Carlo

    2016-12-01

    Autoimmune disorders are known to be more frequent in women and often associated each others, but it is rare to see multiple autoimmune diseases in a single patient. Recently, the concept of multiple autoimmune syndrome has been introduced to describe patients with at least three autoimmune diseases. We describe a case of a young man with a clinical history of psychiatric symptoms and celiac disease (CD) who was diagnosed to have other two autoimmune disorders: systemic lupus erythematosus (SLE) and Hashimoto's thyroiditis. This case is unusual upon different patterns: the rare combination of the three autoimmune diseases, their appearance in a man and the atypical onset of the diseases with psychiatric symptoms likely to be related either to CD or to SLE.

  5. Autoimmune disease and risk for Parkinson disease A population-based case-control study

    DEFF Research Database (Denmark)

    Rugbjerg, K.; Friis, S.; Ritz, B.

    2009-01-01

    Objective: Inflammatory mediators are increased in autoimmune diseases and may activate microglia and might cause an inflammatory state and degeneration of dopaminergic neurons in the brain. Thus, we evaluated whether having an autoimmune disease increases the risk for developing Parkinson disease...... do not support the hypothesis that autoimmune diseases increase the risk for Parkinson disease. The decreased risk observed among patients with rheumatoid arthritis might be explained by underdiagnosis of movement disorders such as Parkinson disease in this patient group or by a protective effect...

  6. A case of Plasmodium vivax malaria associated with severe autoimmune hemolytic anaemia

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    Dinesh Singh

    2012-01-01

    Full Text Available Anemia in malaria is multifactorial. Autoimmune hemolysis is an extremely rare cause of anemia in malaria and more so in vivax malaria. A 35-year-old female presented to us with fever and anemia. She was diagnosed as vivax malaria with autoimmune hemolytc anemia by a positive Direct Coomb′s test. We treated her with antimalarial durgs, corticosteroids, and transfused her with the least incompatible blood. The patient recovered and was discharged. Hence, we suggest that autoimmune hemolysis be considered an important cause of anemia in Plasmodium vivax (P. vivax malaria.

  7. Wernicke-Korsakoff syndrome in the course of thyrotoxicosis - a case report.

    Science.gov (United States)

    Wierzbicka-Chmiel, Joanna; Wierzbicki, Krzysztof; Kajdaniuk, Dariusz; Sędziak, Ryszard; Marek, Bogdan

    2011-01-01

    Wernicke-Korsakoff syndrome (also called Wernicke's encephalopathy) is a potentially fatal, neuropsychiatric syndrome caused most frequently by thiamine deficiency. The three classic symptoms found together are confusion, ataxia and eyeball manifestations. Memory disturbances can also be symptoms. Wernicke's encephalopathy mainly results from alcohol abuse, but also from malnutrition, cancer, chronic dialysis, thyrotoxicosis and, in well-founded cases, encephalopathy associated with autoimmune thyroid disease (EAATD). The coexistence of many factors makes a proper diagnosis difficult, delays appropriate treatment and consequently reduces the chance of complete recovery. We present the case of a 53 year-old female with Wernicke's encephalopathy caused by chronic malnutrition, surgical operation, as well as thyrotoxicosis. She received treatment with intravenous thiamine administration and also anti-thyroid treatment which caused satisfactory regression of her neurological symptoms.

  8. A case of Plummer-Vinson syndrome in childhood.

    Science.gov (United States)

    Anthony, R; Sood, S; Strachan, D R; Fenwick, J D

    1999-10-01

    The Plummer-Vinson syndrome is characterized by an association of dysphagia, iron-deficiency anemia, and esophageal webs. The authors report the case of a 6 year old with Plummer-Vinson syndrome. Plummer-Vinson syndrome usually occurs in adults, rarely in adolescents, however, there have been no previous reports in the English-language literature of the syndrome occurring in childhood.

  9. Liddle′s syndrome: A case report

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    Pranav Patel

    2015-01-01

    Full Text Available Liddle′s syndrome or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset hypertension, hypokalemia and hypoaldosteronism, caused by excessive salt and water reabsorption in the distal nephron. As of 2008, there are <30 pedigrees or isolated cases that have been reported worldwide. We present an isolated case of a Liddle′s syndrome in a 48-year-old female. A 48-year-old female presented to the clinic with palpitation and a three to four-year history of low potassium level and hypertension. She was initially treated with a high potassium diet and potassium supplements. Her cardiac work-up including echocardiography, stress test and Holter monitoring were all negative. After a few months, she was admitted to the hospital with an acute hypertensive episode and hypokalemia. On evaluation, she was found to have low renin and aldosterone levels. Liddle′s syndrome was considered with the clinical picture of hypokalemia, hypertension and low renin/ aldosterone level. The patient was successfully treated with a high potassium diet, triamterene and atenolol. Liddle′s syndrome should be considered as the differential diagnosis in patients presenting with the clinical picture of hypokalemia, hypertension and low renin/aldosterone level.

  10. Apheresis in high risk antiphospholipid syndrome pregnancy and autoimmune congenital heart block.

    Science.gov (United States)

    Ruffatti, Amelia; Favaro, Maria; Brucato, Antonio; Ramoni, Veronique; Facchinetti, Myriam; Tonello, Marta; Del Ross, Teresa; Calligaro, Antonia; Hoxha, Ariela; Grava, Chiara; De Silvestro, Giustina

    2015-12-01

    In the first part a prospective cohort study was reported to evaluate the efficacy and safety of a treatment protocol including plasma exchange (PE) or PE plus intravenous immunoglobulins (IVIG) or immunoadsorption (IA) plus IVIG administered in addition to conventional therapy to 22 pregnant women with high-risk APS. The results indicate that PE or IA treatments administered along with IVIG and conventional antithrombotic therapy could be a valuable and safe therapeutic option in pregnant APS women with triple antiphospholipid antibody positivity along with a history of thrombosis and/or one or more severe pregnancy complications. In the second part the efficacy and safety of PE combined with IVIG and steroids were evaluated for the treatment of 10 patients with autoimmune congenital heart block (CHB) by comparing maternal features, pregnancy outcome and side effects with those of 24 CHB patients treated with steroids only. The patients treated with the combined therapy showed a statistically significant regression of 2nd degree blocks, an increase in heart rate at birth and a significantly lower prevalence of pacing in the first year of life. Moreover, no side effects were observed except for a few steroid-related events. If these results are confirmed by large-scale studies, the apheretic procedures could lead to improved outcomes in the treatment of these devastating diseases.

  11. Tubulointerstitial Nephritis Complicated by Fanconi Syndrome and Renal Tubular Acidosis Associated with three autoimmune diseases

    OpenAIRE

    Io, Kumiko; Obata, Yoko; Nishino, Tomoya; Hirose, Misaki; Yamashita, Hiroshi; Uramatsu, Tadashi; Ichikawa, Tatsuki; Hayashi, Tomayoshi; Kawakami, Atsushi; Taguchi, Takashi; Kohno, Shigeru

    2013-01-01

    A 45-year-old woman experiencing back pain showed signs of metabolic acidosis and electrolyte imbalances. The results of blood and urine tests indicated Fanconi syndrome and renal tubular acidosis. An x-ray showed vertebral fractures, which were thought to responsible for the back pain. In addition, the patient had proteinuria and renal dysfunction; therefore, renal biopsy was performed, and tubulointerstitial nephritis (TIN) was diagnosed. While investigating TIN, primary biliary cirrhosis a...

  12. 355 Ocular Muscles Myopathy Associated with Autoimmune Thyroiditis. Case Reports

    Science.gov (United States)

    Vargas-Camaño, Eugenia; Castrejon-Vázquez, Isabel; Plazola-Hernández, Sara I.; Moguel-Ancheita, Silvia

    2012-01-01

    Background Thyroid-associated orbitopathy is commonly associated with Graves' disease with lid retraction, exophthalmos, and periorbital swelling, but rarely with autoimmune thyroiditis or euthyroid state. We reviewed 3 cases from our hospital whose antibodies to anti-receptor of TSH were normal. Methods Case 1: 60 year-old non-diabetic woman with bilateral glaucoma in treatment, recurrent media otitis and euthyroidism, acute onset of painless diplopia, and lid ptosis in the left eye. MRI of orbit showed increased size of the III right cranial pair and high levels of thyroid autoantibodies (Tab) anti-tiroglobulin (ATG) 115.1, anti-thyroid peroxidase (ATPO) 1751 U/mL. She started oral deflazacort 30 mg each 3 days. Sixty days later, complete remission of eye symptoms correlated with lower auto-antibodies level (ATG 19 ATPO 117). Case 2: 10 year-old girl. At age 8, she had diplopia, lid ptosis and limitations of upper gaze in the left eye. The neurological study discarded ocular myasthenia; with thyroid goitier, and hypothyrodism, she started oral levothyroxin. At age 10 with normal IRM Botulinic toxin was injected, without change. High levels of Tab were found, ATG 2723, ATPO 10.7. She started oral deflazacort 30 mg each 3 days, azathioprin 100 mg, daily. Actually, Tab levels are almost normal, but she remains with ocular alterations. Case 3: 56 year-old woman, Grave´s disease with exophtalmos in 1990, treated with I131 and immunosupression, with good outcome; obesity, hypertension and bilateral glaucoma in treatment. She suddenly presented diplopia and IV pair paresia of the right eye. A year later, ATb were found slightly elevated, ATG 100 years ATPO 227; despite prednisone 50 mg, each 3 days and azathioprin 150 mg/daily treatment, a surgical procedure was required for relieve the ocular symptoms. Results We found only 3 cases previously reported with this type of eye thyroid disease. Is important to note that awareness of this atypical form of orbitopathy

  13. [Serological characteristics and transfusion efficacy evaluation in 61 cases of autoimmune hemolytic anemia].

    Science.gov (United States)

    Yu, Yang; Sun, Xiao-Lin; Ma, Chun-Ya; Guan, Xiao-Zhen; Zhang, Xiao-Juan; Chen, Lin-Fen; Wang, Ke; Luo, Yuan-Yuan; Wang, Yi; Li, Ming-Wei; Feng, Yan-Nan; Tong, Shan; Yu, Shuai; Yang, Lu; Wu, Yue-Qing; Zhuang, Yuan; Pan, Ji-Chun; Fen, Qian; Zhang, Ting; Wang, De-Qing

    2013-10-01

    This study was aimed to analyze the serological characteristics, efficacy and safety of incompatible RBC transfusion in patients with autoimmune hemolytic anemia (AIHA). The patients with idiopathic or secondary AIHA were analyzed retrospectively, then the serological characteristics and the incidence of adverse transfusion reactions were investigated, and the efficacy and safety of incompatible RBC transfusion were evaluated according to the different autoantibody type and infused different RBC components. The results showed that out of 61 cases of AIHA, 21 cases were idiopathic, and 40 cases were secondary. 8 cases (13.1%) had IgM cold autoantibody, 50 cases (82.0%) had IgG warm autoantibody, and 3 cases (4.9%) had IgM and IgG autoantibodies simultaneously. There were 18 cases (29.5%) combined with alloantibodies. After the exclusion of alloantibodies interference, 113 incompatible RBC transfusions were performed for 36 patients with AIHA, total efficiency rate, total partial efficiency rate and total inefficiency rate were 56.6%, 15.1% and 28.3%, respectively. Incompatible RBC transfusions were divided into non-washed RBC group and washed RBC group. The efficiency rate, partial efficiency rate and inefficiency rate in non-washed RBC group were 57.6%, 13.0% and 29.4%, respectively. The efficiency rate, partial efficiency rate and inefficiency rate in washed RBC group were 53.6%, 21.4% and 25.0%, respectively. There was no significant difference of transfusion efficacy (P > 0.05) in two groups. Incompatible RBC transfusions were also divided into IgM cold autoantibody group and IgG warm autoantibody group. The efficiency rate, partial efficiency rate and inefficiency rate in IgM cold autoantibody group were 46.2%, 30.8% and 29.4%, respectively. The efficiency rate, partial efficiency rate and inefficiency rate in IgG warm autoantibody group were 56.7%, 13.4% and 29.9%, respectively. There was no significant difference of transfusion efficacy (P > 0.05 ) in two

  14. Rapidly Developed Multiple Face and Neck Skin Cancers in a Patient with Sjögren’s Syndrome: A Case Report

    Science.gov (United States)

    Teh, Lean San; Lai, Ji-Ching; Lian, Je Chuan

    2017-01-01

    Patient: Male, 76 Final Diagnosis: Skin cancer Symptoms: Skin Medication: — Clinical Procedure: — Specialty: Surgery Objective: Unknown ethiology Background: Sjögren’s syndrome is a chronic, systemic disorder of an autoimmune nature, and its primary etiopathogenetic events are not known. Previous studies have found elevated incidence of malignancies in patients with primary Sjögren’s syndrome. However, there are few reports regarding the association of Sjögren’s syndrome with skin cancers, especially with multiple skin cancers developed within a short time. Case Report: We reported an unusual case of a patient with primary Sjögren’s syndrome who suffered from rapidly developed facial and neck skin cancers within two years. Conclusions: Sjögren’s syndrome associated with skin cancer is rare. Our case report suggests that Sjögren’s syndrome patients require continuous follow-up with conventional cancer examination, including skin biopsy for suspected skin lesions. PMID:28373638

  15. [Autoimmune pancreatitis].

    Science.gov (United States)

    Beyer, G; Menzel, J; Krüger, P-C; Ribback, S; Lerch, M M; Mayerle, J

    2013-11-01

    Autoimmune pancreatitis is a relatively rare form of chronic pancreatitis which is characterized by a lymphoplasmatic infiltrate with a storiform fibrosis and often goes along with painless jaundice and discrete discomfort of the upper abdomen. Clinically we distinguish between two subtypes, which differ in terms of their histology, clinical picture and prognosis. Type 1 autoimmune pancreatitis is the pancreatic manifestation of the IgG4-associated syndrome which also involves other organs. About one third of the patients can only be diagnosed after either histological prove or a successful steroid trail. Type 2 is IgG4-negative with the histological picture of an idiopathic duct centric pancreatitis and is to higher degree associated with inflammatory bowel disease. A definitive diagnosis can only be made using biopsy. Usually both forms show response to steroid treatment, but in type 1 up to 50 % of the patients might develop a relapse. The biggest challenge and most important differential diagnosis remains the discrimination of AIP from pancreatic cancer, because also AIP can cause mass of the pancreatic head, lymphadenopathy and ductal obstruction. This article summarizes recent advances on epidemiology, clinical presentation, diagnostic strategy, therapy and differential diagnosis in this relatively unknown disease.

  16. An elderly 'kawara' craftsman with acute kidney injury and haemoptysis: a case of silica-induced autoimmunity.

    Science.gov (United States)

    Matsui, Satoshi; Tsuji, Hiroko; Ono, Shinji

    2011-02-01

    A 62-year-old Japanese 'kawara' (ceramic roof tile) craftsman presented with acute kidney injury and haemoptysis. This case met the systemic lupus erythematosus and microscopic polyangiitis criteria, with high titres of myeloperoxidase-antineutrophil cytoplasmic antibody (570 EU). Results showed the presence of antinuclear antibody at a high titre (1:2560), but detection of rheumatoid factor, anti-dsDNA, anti-SSA and anti-SSB antibodies was not apparent. This serology was similar to drug-induced, silicon-induced or silica-induced autoimmunity. The patient had been exposed to silica for > 40 years. The environmental aetiology of autoimmune diseases should be considered in cases that show atypical epidemiology and serology.

  17. Transient Bone Marrow Edema Syndrome (Case Report

    Directory of Open Access Journals (Sweden)

    Nilnur Konuralp

    2003-09-01

    Full Text Available Transient bone marrow edema syndrome (BMES is accepted as a possible cause of acute disabling hip pain. This syndrome is defined as local osteoporosis in hip in radiographies, BME in MRI which can be rarely seen and has a self-limiting course. Although the disease generally has a self-limiting course, surgical treatment by early core decompression of the femoral head has proven effective in rapidly relieving the symptoms. Although BMES is relatively rare and probably underdiagnosed when compared to nontraumatic osteonecrosis, both conditions are associated with known osteonecrosis risk factors in middle aged men and especially with late (thirdhad trimester pregnancy in women. We have reported three cases with BMES that had different etiology and followed up presented the differential diagnosis to nontraumatic avascular osteonecrosis. These three cases were treated in early stage very succesfully.

  18. Hermansky-Pudlak Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Ilhami Berber

    2014-01-01

    Full Text Available Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems.

  19. A Case Report of Maffucci Syndrome

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    Gh. Eshghi

    2013-01-01

    Full Text Available Introduction: Maffucci syndrome is a rare clinical entity (approximately 200 cases have been reported in the medical literature with a combination occurrence of multiple enchodroma and vascular tumors. Case Report: Our patient was an 18 year old girl born in a non-consanguineous marriage with finger and toe bones disorders (enchondroma causing deformity of fingers and toes with multiple vascular tumors (cavernous hemangioma in the distal upper and lower limbs. Entire laboratory investigations including thyroid function tests were normal. Cardiovascular ex-amination including EKG and echocardiography were also normal. The abnormal findings on brain CT SCAN with contrast were not observed. Angiographic and histologic stud-ies confirmed the cavernous hemangioma and radiography of fingers and toes approved bone lesions (enchondroma. Conclusion: A diagnosis of Maffucci syndrome was made by the above mentioned measures.(Sci J Hamadan Univ Med Sci 2013; 19 (4:82-85

  20. A case of recurrent neuroleptic malignant syndrome

    Institute of Scientific and Technical Information of China (English)

    Zexiang OUYANG; Li CHU

    2013-01-01

    Summary:Neuroleptic malignant syndrome (NMS) is a life-threatening neurologic complication associated with the use of neuroleptic agents and characterized by a distinctive clinical syndrome of fever, rigidity, autonomic nervous system dysfunction and mental status change. This report discusses the clinical presentation, possible etiology, pathogenesis and treatment of one case of recurrent NMS in a middle-aged woman with schizophrenia. NMS occurred after combined treatment with haloperidol and aripiprazole (the first episode) and, four years later, after combined treatment with haloperidol and clozapine (the second episode). This case highlights the need to be particularly cautious in the use of antipsychotic medications in patients with a history of NMS and, whenever possible, to avoid combined treatment with multiple antipsychotic medications in these patients.