Subacute combined degeneration of spinal cord with autoimmune disease in children: a case report / 中华神经科杂志

The clinical manifestations of subacute combined degeneration of spinal cord (SCD) in children are complex and vary greatly. Due to the fact that some patients with SCD may be complicated with autoimmune diseases, the high early misdiagnosis and missed diagnosis rates are observed. One case of 13-year old female with severe anemia, multiple joint swelling and pain in left limbs and paralysis of bilateral lower limbs with the extremely low level of serum vitamin B12 and poly-glandular involvement as well as a variety of positive auto-antibodies (anti-intrinsic factor antibody, anti-parietal cell antibody, thyroid peroxidase antibody, thyroid globulin antibody and perinuclear anti-neutrophil cytoplasmic antibody) was retrospectively analyzed. The patient was diagnosed as SCD with autoimmune disease (undifferentiated connective tissue disease and autoimmune polyglandular syndrome). The patient′s condition gradually alleviated after high-dose intravenous methylprednisolone, immunoglobulin, naproxen (then changed to hydroxychloroquine 1 month later), vitamin B12 and levothyroxine sodium tablets supplementation, blood transfusion and rehabilitation. SCD with autoimmune diseases is rare in children, and the clinical manifestations vary greatly. Early recognition and early treatment can improve the prognosis of SCD. The clinical data of this child were retrospectively analyzed, so as to improve the understanding of the disease by clinicians.

Candidiasis mucocutanea generalizada en una paciente con sindrome poliglandular tipo 1. a proposito de un caso / Generalized mucocutaneous candidiasis in a child with type 1 polygenellular syndrome: a case proposed

Resumen La candidiasis mucocutánea crónica (CMC) es una enfermedad persistente no invasiva que tiene como característica afecciones que incluyen infección por Candida en piel, uñas y membranas mucosas, asociadas a manifestaciones autoinmunes secundarias a alteraciones genéticas en el sistema inmune. La mutación del gen regulador autoinmune AIRE es la principal causa de candidiasis mucocutánea crónica aunque otros genes han estado implicados total o parcialmente con fenotipos clínicos relacionados. Se presenta el caso de una niña de 15 años de edad, que ingresa en nuestra consulta con clínica de inmunosupresión, alteraciones endocrinológicas e infección por Candida Albicans, y que representó un reto diagnóstico.

Abstract Chronic Mucocutaneous Candidiasis is a non invasive persistent disease that has characteristics that include infection by Candida in skin, nails and mucous membranes, associated with several autoimmune diseases to genetic alterations in the immune system. The mutation of the AIRE autoimmune regulatory gene is the main cause of chronic mucocutaneous candidiasis, although other genes have been totally or partially implicated with related clinical phenotypes. We have the case of a 15-year-old girl who entered to our clinic with immunosuppression, endocrinological alterations and Candida Albicans infection, which represented a diagnostic challenge.

Comportamiento del síndrome poliglandular autoinmune tipo III en una cohorte de ocho casos / Behavior of autoimmune polyglandular syndrome type III in a cohort of eight cases

Introducción: el síndrome poliglandular autoinmune es una afección que se caracteriza por la presencia de varias afecciones entre las que destaca la presencia de diabetes insulinodependiente, enfermedad tiroidea y enfermedad autoinmune no tiroidea fundamentalmente. Pueden presentarse otras afecciones específicas como es el caso del vitiligo, la psoriasis, alopecia y anemia perniciosa entre otras. Objetivo: conocer el comportamiento clínico y epidemiológico del síndrome poliglandular autoinmune tipo III en pacientes con enfermedades reumáticas. Método: estudio de tipo descriptivo y retrospectivo, de una serie de 8 casos con presencia de enfermedades que permiten el diagnóstico de síndrome autoinmune tipo III. Se procedió a realizar una revisión exhaustiva de las historias clínicas que posibilitó la recogida de la información mediante un cuestionario creado específicamente para la investigación. La información recogida permitió describir las variables sociodemográficas, clínicas y de laboratorio planteadas para la investigación. Resultados: el promedio de edad fue de 47.34 ± 5 años. El 87.5 por ciento correspondió al sexo femenino y el 75 por ciento de los casos refirió algún hábito nocivo, de los cuales el de mayor representatividad (83,3 por ciento) fue el sedentarismo. El hipotiroidismo (87,5 por ciento) y el síndrome de Sjögren (37,5 por ciento) fueron las enfermedades que con mayor frecuencia se presentaron. Conclusiones: el síndrome poliglandular autoinmune es una afección múltiple que incluye diversas afecciones generando polifarmacia que pude incidir negativamente en la adherencia terapéutica de estos pacientes. La presencia de hábitos nocivos puede ser considerada como un posible agente desencadenante de muchas de las afecciones que componen el síndrome. Existe una tendencia a minimizar la importancia de las afecciones dermatológicas lo que genera un subregistro de las mismas(AU)

Introduction: autoimmune polyglandular syndrome is a condition that is characterized by the presence of several conditions among which the presence of insulin-dependent diabetes, thyroid disease and non-thyroid autoimmune disease is fundamental. There may be other specific conditions such as vitiligo, psoriasis, alopecia and pernicious anemia among others. Objective: to know the clinical and epidemiological behavior of type III autoimmune polyglandular syndrome in patients with rheumatic diseases. Methodo: estudio de tipo descriptivo y retrospectivo, de una serie de 8 casos con presencia de enfermedades que permiten el diagnóstico de síndrome autoinmune tipo III. Se procedió a realizar una revisión exhaustiva de las historias clínicas que posibilitó la recogida de la información mediante un cuestionario creado específicamente para la investigación. La información recogida permitió describir las variables sociodemográficas, clínicas y de laboratorio planteadas para la investigación. Results: the average age was 47.34 ± 5 years. 87.5 percent corresponded to the female sex and 75 percent of the cases reported some harmful habit, of which the one with the highest representation (83.3 percent) was a sedentary lifestyle. Hypothyroidism (87.5 percent) and Sjögren's syndrome (37.5 percent) were the diseases that most frequently occurred. Conclusions: autoimmune polyglandular syndrome is a multiple condition that includes various conditions generating polypharmacy that could negatively affect the therapeutic adherence of these patients. The presence of harmful habits can be considered as a possible triggering agent of many of the conditions that make up the syndrome. There is a tendency to minimize the importance of dermatological conditions, which causes underreporting(AU)

Recurrent petechia and epistaxis in a patient diagnosed as diabetes mellitus for 2 years / 中华实用儿科临床杂志

To analyze respectively a case,presented with recurrent petechial and epistaxis after a 2 years history of diabetes mellitus (DM),who was hospitalized in Beijing Children's Hospital Affiliated to Capital Medical University.The clinical manifestation,examination,diagnosis and treatment were recorded.The patient was diagnosed with immune thrombocytopenia (ITP) and DM at the first admission.The initial therapy with gamma globulin didn't show ideal effect.The pediatric specialists from the department of ENT,Hematology/Oncology,Endocrinology,Pharmacy and Immunodeficiency Clinic were invited to discuss the case.The final diagnosis of autoimmune polyglandular syndrome (APS) was made and supplementary steroid treatment was started.But the response of the steroid therapy was poor.Once again with the multidisciplinary consultation,the patient received several schemes of Rituximab under the informed consent.This treatment reached a stable condition for almost 7 years.APS should be considered when DM patient showed the manifestation of other immune organ damages.Rituximab immunosuppressive therapy should be tried when the response to first-line treatment was poor.

Primary amenorrhea associated with hyperprolactinemia in polyglandular autoimmune syndrome type II: A case report / Amenorreia primária associada com hiperprolactinemia em síndrome poliglandular autoimune tipo 2: relato de caso

Abstract Polyglandular autoimmune syndrome type II (PGA-II) is a rare immunoendocrinopathy syndrome characterized by the occurrence of autoimmune Addison disease along with diabetes mellitus type 1 and/or autoimmune thyroid disease. Here, we report the case of a 23-year-old female with PGA-II who was followed up at the dermatology and endocrinology clinics of the Universidade Federal do Triângulo Mineiro, located in the state of Minas Gerais, Brazil. First, the patient presented diffuse skin hyperpigmentation, vitiligo; and in sequence, due to vomiting, appetite and weight loss, hypoglycemia, amenorrhea, and galactorrhea, the patient was then diagnosed with PGA-II. The patient also presented intense hyperprolactinemia due to primary hypothyroidism. The late diagnosis of PGA-II is frequent because the disorder is uncommon and has non-specific clinical manifestations. This report emphasizes the significance of a timely diagnosis and appropriate treatment to reduce morbidity and mortality associated with these diseases, especially Addison disease. The present study reports a rare case of a patient with PGA-II with primary amenorrhea associated with hyperprolactinemia.

Resumo A síndrome poliglandular autoimune tipo 2 (SPGA-2) é uma síndrome de imunoendocrinopatia rara caracterizada por doença de Addison autoimune associada à diabetes mellitus tipo 1 e/ou doenças tireoidianas autoimunes. Relatamos aqui o caso de uma paciente de 23 anos de idade com SPGA-2 que foi acompanhada nos ambulatórios de dermatologia e endocrinologia da Universidade Federal do Triângulo Mineiro, localizada no estado de Minas Gerais, Brasil. Primeiramente, a paciente apresentou hiperpigmentação cutânea difusa e vitiligo; posteriormente, por apresentar vômitos, hiporexia, perda ponderal, hipoglicemia, amenorreia e galactorreia, foi diagnosticada com SPGA-2. A paciente apresentou também intensa hiperprolactinemia secundária apenas ao hipotireoidismo primário. É comum o diagnóstico tardio da SPGA-2, pois a doença é rara e apresenta manifestações clínicas inespecíficas. Este relato de caso enfatiza a importância do diagnóstico e tratamento precoces como objetivo de reduzir a morbimortalidade associada a essas doenças, especialmente à doença de Addison. O presente estudo descreve um caso raro de uma paciente com SPGA-2 com amenorreia primária associada a hiperprolactinemia.

Síndrome poliglandular autoinmune tipo iii c: reporte de caso / Autoimmune polyglandular syndrome type iiic: case report

El síndrome poliglandular autoinmune comprende un grupo de enfermedades autoinmunes de las glándulas endócrinas, y que afecta órganos no endócrinos, puede ser de tipo I, II y III. Paciente masculino de 26 años presenta palpitaciones, debilidad, y disnea de esfuerzos de 2 meses de evolución. Al examen físico, índice de masa corporal 29,6 kg/m², obesidad central, con acromía en cara, axilas y cuello. Los estudios muestran TSH 0,01 uUl/ml,T4 libre 3,67 ng/dl, antitiroperoxidasa 505,70 Ul/ml, insulina en ayunas 32,77 U/l, y a las 2 horas 77 U/l, glicemia en ayunas 101 mg/dl, curva tolerancia oral a la glucosa a las 2 horas de 140 mg/dl. La ecografía tiroidea revela bocio multinodular. Diagnósticos: tiroiditis autoinmune, vitíligo, prediabetes, sobrepeso. Manejo con metimazol 5 mg c/12 h, y metformina 850 mg en la noche. El paciente baja de peso y la glicemia mejora. El diagnóstico definitivo fue Tiroiditis autoinmune y vitíligo compatible con síndrome poliglandular tipo IIIC.

Autoimmune Polyglandular Syndrome comprises a group of autoimmune diseases of the endocrine glands, and affecting non-endocrine organs, there are type I, II and III. Male patient, aged 26 years old has palpitations, weakness, and exertional dyspnea for 2 months. The physical examination found body mass index 29,6 kg/m², central obesity, with acromia on face, armpits and neck. Studies show TSH 0,01 uUl/ml, freeT4 3,67 ng/dl, antithyroperoxidase 505,70 U/ml, fasting insulin 32,77 U/l, after 2 hours 77 U/l, fasting glycemia 101 mg/dl, glucose tolerance at 2 hours 140 mg/dl. Thyroid ultrasound reveals multinodular goiter. Diagnoses: autoimmune thyroiditis, vitiligo, prediabetes, overweight. It prescribed metimazole 5 mg every 12 hours, and metformin 850 mg at night. Patient with weight reduction and glucose improvement. Definitive diagnoses patient with autoimmune thyroiditis and vitiligo, compatible with polyglandular syndrome type IIIC.

Autoimmune polyglandular syndrome type Ⅳ: thymoma, vitiligo, myasthenia gravis, systemic lupus erythematosus, pemphigus vulgaris and alopecia universalis successively occurred in a patient / 中华皮肤科杂志

On November 30th,2017,a 62-year-old female patient was admitted to the hospital because of multiple depigmented patches all over the body for 16 years,as well as erythema and blisters on the scalp,trunk and upper extremities for more than 8 years,which had been aggravated for 1 year.The patient underwent surgical resection of thymoma in 1996,and developed myasthenia gravis in 2004.Skin examination showed scattered erythemas of various sizes on the scalp,face,chest and upper extremities,with crusts on the surface of some erythemas and positive Nikolsky's sign.Hypopigmented macules mingled with depigmentated macules of various sizes were scattered all over the body.A large area of depigmentation was observed on both hands,and the nail plates were atrophic.Hairs,eyebrows,eyelashes,axillary and pubic hairs were abscent.Laboratory examination showed the presence of homogeneous IgG antinuclear antibody with a titer of 1:640,anti-double stranded DNA antibody (276 IU/ml),lupus anticoagulant (1.62),anti-Dsg1 antibody (＞ 150 U/ml) and anti-Dsg3 antibody (91 U/ml).Histopathological examination of dorsal blister tissues and hematoxylin-eosin staining showed fissured blisters and acantholytic cells in the epidermis,monolayer basal cells on the basilar membrane,and perivascular infiltration of a few lymphocytes in the superficial dermis.The patient successively developed thymoma,vitiligo,myasthenia gravis,systemic lupus erythematosus,pemphigus vulgaris and alopecia universalis,so a diagnosis of autoimmune polyglandular syndrome type Ⅳ was made.Since autoimmune-mediated endocrinopathies are prone to occur successively,changes of related hormones and antibodies in the patient should be monitored for early diagnosis and treatment of newly emerging autoimmune diseases.

Type 1 diabetes mellitus and autoimmune polyglandular syndrome / 中华实用儿科临床杂志

Type 1 diabetes mellitus and autoimmune polyglandular syndrome diseases are autoimmune disea-ses. There is a close correlation between them. The autoimmune pathogenesis is the genetic basis of susceptibility to en-vironmental factor and other factors,resulting in immune imbalance between cellular and humoral immunity. There are inflammatory cells infiltration in affected organs and antibodies against target organs. Eventually,affected organs have dysfunction and show corresponding symptoms.

A Case of Alopecia Areata Associated with Autoimmune Polyglandular Syndrome Type III / 대한피부과학회지

Autoimmune polyglandular syndrome (APGS) is characterized by the association of two or more endocrine disorders that are mediated by autoimmune mechanism. We herein report a case of alopecia areata associated with APGS type III. This particular case involved autoimmune Hashimoto thyroiditis, systemic lupus erythematosus (SLE), and vitiligo, and so met the criteria of APGS type III.

Association with Autoimmune Disease in Patients with Premature Ovarian Failure / 대한불임학회지

OBJECTIVE: To assess the association with autoimmune endocrine diseases and detection rate of autoimmune antibodies and its clinical significance in patients with premature ovarian failure. METHODS: Twenty eight patients with primary or secondary amenorrhea manifesting hormonal and clinical features of premature ovarian failure (primary POF: 7, secondary POF: 21) were investigated. We tested them TFT, 75 g OGTT, ACTH and S-cortisol for thyroiditis, IDDM, Addison's disease, and antithyoglobulin antibody, antimicrosomal antibody, antinuclear antibody, rheumatic factor, anti-smooth muscle antibody, anti-acetylcholine receptor antibody for non-organ specific autoimmune disorders. RESULTS: Only one patient was diagnosed as IDDM and no patients had abnormal TFT or adrenal function test. More than one kind of autoantibody was detected in 11 patients of all (39.2%): 5 patients (71.4%) of primary POF group and 6 patients (21.4%) of secondary POF group. Eleven patients (39.3%) had antithyroglobulin antibody, 4 (14.3%) had antimicrosomal antibody, 2 (7.1%) had antinuclear antibody, 2 (7.1%) had rheumatic factor, 1 (3.6%) had anti-smooth muscle antibody, 1 (3.6%) had anti-acetylcholine receptor antibody. CONCLUSIONS: Premature ovarian failure may occur as a component of an autoimmune polyglandular syndrome, so patients should be measured with free thyroxine, thyroid-stimulating hormone, fasting glucose and electrolytes. Measurement of thyroid autoantibodies in POF patients may be important in identifying patients at risk of developing overt hypothyoidism, but other autoantibodies may not be suitable for screening test.

Clinical observations of idiopathic hypoparathyroidism / 대한내과학회지

BACKGROUND: Idiopathic hypoparathyroidism is a relatively rare disease characterized by hypocalcemia and hyperphosphatemia due to parathyroid hormone deficiency of unknown cause. It usually develop at young age and various clinical symptoms and signs accompanied with hypocalcemia develop at late period. And rarely associated with polyglandular autoimmune syndrome during follow-up. So we reviewed retrospectively our clinical experiences in diagnosis and management. METHODS: We observed the 6 cases with idiopathic hypoparathyroidism from 1986 to 2002. Four female and two male patients were examined demographic characteristics, clinical manifestations, laboratory findings, radiologic finding, and occurrence of polyglandular autoimmune syndrome. RESULTS: All patients aged from 18 to 51 years and had no familial history. The most frequent two symptoms of idiopathic hypoparathyroidism were paresthesia (67%) and tetany (67%). The incidence of Chvostek's and Trousseau's sign were 83% and 67%, respectively. From the history taking, patient who had psychotic problem was two, ocular lesion was two, and Graves's disease was one before admission. One patient had transient hypogonadism because of acute illness but recovered during follow-up. One patient developed primary adrenal insufficiency after 2 years. Neuroimaging study revealed bilateral calcification and ECG showed Q-T interval prolong. CONCLUSION: Idiopathic hypoparathyroidism may be suspected in patients with various neurologic symptoms and signs associated with hypocalcemia. It was difficult to predict other endocrine dysfunction at diagnosis. Therefore, we need to follow-up laboratory examinations for early detection of accompanied autoimmune disease in idiopathic hypoparathyroidism patient.

A Case of Type II Autoimmune Polyglandular Syndrome: Acute adrenal crisis presented as the first manifestation of Addison's disease in a patient with diabetic ketoacidosis and hypgonadism / 대한내분비학회지

Type II autoimmune polyglandular syndrome typically presents in adulthood. Insulin dependent diabetes mellitus and thyroid dysfunction are the most frequent manifestations. Addison's disease is the third major endocrine component of this disorder. In this report, we described a thirty-two year-old male patient who had hypogonadism, insulin dependent diabetes mellitus, and mild Addison's disease presenting its first manifestation as an acute adrenal crisis due to diabetic ketoacidosis. The ACTH concentration will be elevated early in the course of Addisons disease even before a significant reduction in the basal cortisol level or its response to exogenous ACTH occurs. Therefore, plasma ACTH measurements serve as a valuable screening study for Addisons disease.

A Case of Alopecia Universalis Associated with Autoimmune Poly Glandular Syndrome type II / 대한피부과학회지

Autoimmune polyglandular syndrome (APGS) is characterized by the association of two or more endocrine disorders that are mediated by autoimmune mechanism. We report herein a case of alopecia universalis associated with APGS manifesting autoimmune Addison's disease, insulin-dependent diabetes mellitus, Hashimoto's thyroiditis, primary gonadal failure, which met the criteria of APGS type II. Alopecia is less commonly associated PGA type II.