Cases reported "Autoimmune Diseases"

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11/67. Aplasia cutis congenita after methimazole exposure in utero.

    We describe a patient who was exposed to the antithyroid drug methimazole during the first 6 weeks of gestation and was born prematurely with scalp and skull defects associated with facial asymmetry. A review of the literature seems to support the hypothesis that methimazole is a potential teratogen. Although the risk of birth defects is low with clinically applied doses of the drug, it cannot be regarded as safe and should therefore be avoided in the treatment of pregnant women.
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ranking = 1
keywords = gestation
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12/67. Preoperative diagnosis of lymphocytic hypophysitis (adenohypophysitis) unresponsive to short course dexamethasone: case report.

    Lymphocytic hypophysitis (adenohypophysitis) is a rare lymphocytic infiltration of the pituitary gland that usually occurs during pregnancy. Because of its rarity, it has seldom been diagnosed preoperatively, and no trials of therapeutic treatment have been reported to date. We describe a 29-year-old woman with a pituitary mass and visual-field defects during pregnancy. The patient's pituitary profile revealed an abnormal thyroid axis and relatively low prolactin for her stage of pregnancy. This finding suggested adenohypophysitis, and the patient was given a trial course of dexamethasone. The progression of the visual-field defects, however, indicated that the steroids, both in dosage and duration, were not effective. Thus, the patient underwent a partial hypophysectomy for decompression. The pathology report confirmed adenohypophysitis, and steroids were continued for the remainder of the pregnancy, with slow resolution of the visual-field defects to normal. This report is the first case of adenohypophysitis where the diagnosis was suspected preoperatively, and a trial course of steroids was given. The steroids at the dosage and duration used were not effective. Further evaluation of the use of steroids in this disease is warranted.
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ranking = 24.879328125648
keywords = pregnancy
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13/67. Autoimmune progesterone dermatitis in a parturient for emergency caesarean section.

    A parturient with a 14-year history of autoimmune progesterone dermatitis presented in labour at 36 weeks' gestation. She had suffered recurrent episodes of angioedema over a long period and had been scheduled for elective caesarean hysterectomy and bilateral oophorectomy at 37 weeks' gestation. In most cases surgical oophorectomy provides prolonged relief from the recurrent angioedema and dermatological manifestations that are typical of autoimmune progesterone dermatitis. Spinal anaesthesia was chosen in order to avoid airway manipulation, a factor frequently implicated in the development of angioedema. Delivery was uneventful and the obstetricians proceeded to hysterectomy and oophorectomy. Forty minutes after delivery the patient experienced an attack of angioedema, she was markedly hypotensive and was given fluids, ephedrine and phenylephrine with good effect. As she remained normotensive, she was given intramuscular rather than intravenous epinephrine to provide a slower release. She recovered well and stabilised without the need for intubation or ventilation. This case reinforces the rationale for regional anaesthesia in these patients and demonstrates how intramuscular epinephrine contributed towards a positive outcome.
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ranking = 2
keywords = gestation
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14/67. Lymphocytic hypophysitis: late recurrence following successful transsphenoidal surgery.

    Lymphocytic hypophysitis (LH) is an inflammatory dis-ease of the anterior pituitary. The varying clinical presentation and the short-term outcome of LH have been extensively described in several case reports or small cohort studies. However, little is known about the long-term outcome of this disease. It is currently believed that if left untreated it may run a self-limited course followed by full resolution of the mass with or without persisting pituitary failure. We describe a 29-yr-old female who presented with secondary amenorrhea, headaches, visual defects, and a pituitary mass, which was removed by transsphenoidal surgery. histology was consistent with the diagnosis of LH. Following surgery the patient demonstrated a gradual recovery of gonadotroph function with restoration of menses and a successful pregnancy. However, 3 yr after delivery and 6 yr following her initial presentation she developed amenorrhea, headaches, and a pituitary mass. Institution of steroid therapy resulted in resolution of the pituitary mass. In summary, this case illustrates that similarly to many other disorders of autoimmune origin LH may run a fluctuating course and late recurrence is possible even after the successful removal of the inflammatory mass, thus necessitating long-term follow-up of these patients.
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ranking = 6.2198320314119
keywords = pregnancy
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15/67. Hypothyroidism and autism spectrum disorders.

    Five children (three boys and two girls) with autism or autistic-like conditions are described. Three of them had congenital hypothyroidism and two had mothers who had probably been hypothyroid in pregnancy. It is suggested that hypothyroid hormone deficiency in early development might cause central nervous system damage such that autistic symptoms are likely to ensue. An alternative explanation might be autoimmune factors linking hypothyroidism and autism.
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ranking = 6.2198320314119
keywords = pregnancy
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16/67. Autoimmune-associated congenital heart block: treatment of the mother with immunoadsorption.

    Autoimmune-associated congenital heart block (CHB) is a rare complication of pregnancy in mothers with Anti-Ro/SSA antibodies (SSA-abs), resulting in fetal myocarditis, atrioventricular block, hydrops fetalis and/or intrauterine fetal death. As these antibodies are supposed to be directly involved in the pathogenesis of CHB, their removal should be associated with an improved clinical course. Extracorporeal immunoadsorption (IA) is the most efficient method to remove IgG-immunoglobulins like SSA-abs selectively. Two women with high titers of those auto-antibodies [mothers serum 615 and 612, respectively (normal range <3.0 IU/mL)] were treated with IA two to three times per gestation week in the outpatient department of the University of Rostock. In both patients, the mean removal of IgG (65 /- 6%) to a target near 2.0 g/L after IA was successful. The SSA-abs were reduced from mean 328 /- 138 and 247 /- 105 pre IA to 88 /- 124 and 98 /- 42 post IA, respectively. One child received a pacemaker due to the persisting atrioventricular block grade III after birth. The second was unaffected. The removal of highly elevated SSA-antibodies by immunoadsorption is a possible treatment option in pregnant woman with high titers of those antibodies and/or a positive history of clinical complications. Further clinical studies are necessary.
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ranking = 7.2198320314119
keywords = pregnancy, gestation
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17/67. Managing passively acquired autoimmune neonatal neutropenia: a case study.

    pregnant women with autoimmune neutropenia (AIN) and circulating neutrophil-specific autoantibodies can deliver neutropenic neonates at risk of sepsis. We report the case of a woman who had two such pregnancies. The woman had been on prophylactic granulocyte colony-stimulating factor (G-CSF) treatment, but this was ceased prior to conception in both pregnancies. In the first pregnancy, there was no monitoring or interventions, and the neonate was neutropenic and required intensive care treatment. In the second pregnancy, the maternal neutrophil autoantibody level was monitored, and G-CSF treatment was introduced in the third trimester. The second infant had no neutropenia at delivery and an excellent apgar score. We discuss the management strategy in the second pregnancy that included monitoring of serial titres of the maternal autoantibody and the introduction of G-CSF in the third trimester, which may have contributed to a more favourable clinical outcome. This may assist other clinicians faced with similar dilemmas in the future.
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ranking = 18.659496094236
keywords = pregnancy
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18/67. Lymphocytic hypophysitis.

    Lymphocytic hypophysitis (LH) is a rare but increasingly recognized inflammatory disorder of the pituitary, usually associated with pregnancy. knowledge of this condition is largely anecdotal; the cause, incidence, and natural history are unknown. Cases are usually discovered at biopsy and surgical intervention for a presumptive pituitary neoplasm. Here we describe two cases of lymphocytic hypophysitis. In the first case the patient underwent surgery for presumptive adenoma, and pathology at resection established the diagnosis of lymphocytic hypophysitis. The second case was strongly suspicious for LH by history, endocrine profile, and imaging, and was managed nonoperatively. Though magnetic resonance imaging (MRI) features are not diagnostic, knowledge of imaging features together with clinical history may permit avoidance of surgery.
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ranking = 6.2198320314119
keywords = pregnancy
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19/67. Steroid-responsive idiopathic glomerular capillary endotheliosis: case report and literature review.

    Glomerular capillary endotheliosis is a lesion of endothelial cell injury. Morphological characteristics are endothelial swelling with glomerular hypertrophy and a reduction in capillary lumen size. This lesion commonly is found in patients with thrombotic microangiopathy, but similar histopathologic characteristics have been reported in patients with other diseases. A previously healthy 39-year-old woman presented with progressive lower-extremity swelling and arthralgias for 1 week. She had no other symptoms and denied prior illness. Her examination was remarkable for hypertension and pitting edema. urine showed dysmorphic red blood cells and proteinuria. serum creatinine level increased from 1.1 to 2.0 mg/dL (97 to 177 micromol/L) during several weeks. She did not meet criteria for systemic lupus erythematosus. Other test results included a negative pregnancy test and normal complement levels. Additional workup was negative for other causes of glomerular capillary endotheliosis. She underwent 2 renal biopsies. The first showed marked endothelial cell swelling, and the second biopsy 2 months later showed disease progression. Both were consistent with glomerular capillary endotheliosis. proteinuria and serum creatinine level elevation responded to methylprednisolone therapy within 1 week, recurred after steroid doses were tapered, and responded again after restarting steroid therapy with monthly cyclophosphamide infusions. The differential diagnosis for glomerular capillary endotheliosis is limited. Various causes have been implicated, such as dysregulation of vascular endothelial growth factor, abnormal collagen production, and endothelial abnormalities. We did not identify prior cases of idiopathic glomerular capillary endotheliosis in the literature. Idiopathic glomerular capillary endotheliosis may be a newly recognized entity potentially responsive to steroid and cytotoxic regimens.
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ranking = 6.2198320314119
keywords = pregnancy
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20/67. Neonatal alloimmune thrombocytopenia caused by human leucocyte antigen-B27 antibody.

    Neonatal alloimmune thrombocytopenia (NAIT) occurs when maternal alloantibodies to antigens presented on foetal platelets cause their immune destruction. Whether human leucocyte antigen (HLA) antibodies can cause NAIT is controversial. Here, a patient was described who suffered from a NAIT caused by an HLA-B27 antibody. Sera from the mother and the newborn were tested for human platelet antigen antibodies and HLA antibodies by monoclonal antibody-specific immobilization of platelet antigens (MAIPA) assay, solid phase-linked immunosorbent assay (ELISA), lymphocytotoxicity assay (LCT) and flow cytometric analysis. No antibodies against cluster designation (CD)109 and platelet glycoproteins of the father were found in patient's and mother's serum. However, HLA ELISA was used to identify HLA antibody in both sera. The antibody was specified as HLA-B27 antibody. Typing results showed that the father descended hla-b27 antigen on patient and his brother. The mother was HLA-B27 negative. It is most conceivable that the previous pregnancy of the mother induced the production of anti-HLA-B27 antibody, which crossed the placenta and subsequently caused an NAIT in the case presented.
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ranking = 6.2198320314119
keywords = pregnancy
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