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.

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.

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.