A case report of Turner's syndrome with ring X chromosome.

A case of Turner's syndrome with short stature and 45, XO/46, XXr mosaicism in chromosome study was presented. With special emphasis on endocrinological study, the size of the breasts was normal in contrast to the poor development of the breasts in most of types of Turner's syndrome. She showed normal thyroid function, slightly low level of urinary 17-OHCS, decreased 17-KS, poor response in metopirone test and poor response of HGH to insulin.     

A case of Turner's syndrome with hyperthyroidism

A female patient with classical gonadal dysgenesis associated with Graves' disease is reported. The karyotype was mosaicism of 45,X/46,X,i(Xq). The relationship among Graves' disease, Hashimoto's thyroiditis and Turner's syndrome is discussed along with a review of the reported cases.     

少见贪铜菌感染1例

目的 报道1例由罕见细菌导致的感染病例,并分析其易感因素及药敏情况,为罕见细菌感染治疗提供临床经验。方法 收集该患者临床信息,包括症状、治疗过程、药敏试验结果等。结果 药敏试验显示该少见贪铜菌对大部分头孢类、碳青霉烯类等抗生素均敏感。结论 少见贪铜菌是比较罕见的条件致病菌之一,感染多发生于免疫力低下患者。     

Clinical, hormonal and sonographic features of the identical twins with Klinefelter syndrome--a case report

A rare case of Klinefelter syndrome in identical twins is reported. Hormonal levels before and after hCG administration and testicular artery Doppler flow measurements are presented.     

Primary hyperparathyroidism: a rare endocrinopathy in children. Two case reports

Primary hyperparathyroidism (PHPT) is thought to be a common disease in adults. However, it is a rare endocrine disorder in children and adolescents. We report two cases of primary hyperparathyroidism in children diagnosed at the Department of Endocrinology and Diabetes (EU and D) in the Children's Hospital (ChH), Kielce. The clinical course of the disease in these cases was fundamentally dissimilar, which confirms the observation that this rare endocrinopathy in children presents various clinical profiles, leading to diagnostic difficulties. In the first case, the severe course of PHPT was observed with signs suggesting a hypercalcemic crisis. In the second case, the patient was in a good condition with a mild hypercalcemia and symptoms limited to the skeleton, due to early identification of the disease. We believe these cases indicate the significant role of calcemia determination as a screening test in the diagnosis of PHPT, including in children.     

Primary squamous cell carcinoma of the breast: A rare case report

BackgroundSquamous cells are normally not found inside the breast. Therefore, a primary squamous cell carcinoma of the breast is an exceptional phenomenon and the management of this type of disease is still debated.AimClinical outcome assessment of a patient with squamous cell carcinoma of the breast.Materials and methodsWe report a case of primary squamous cell carcinoma of the breast (T1cN0M0) in a 51-years-old woman who underwent breast conserving surgery plus adjuvant chemotherapy and radiation therapy (RT).ResultsWith a follow up of 43 months, the patient is alive with no evidence of local or distant recurrence. The patient had Grade 2 acute skin toxicity. No late skin or respiratory toxicity was observed.ConclusionsPure primary squamous cell carcinoma of the breast is a rare and aggressive disease, often treatment-refractory. Our case shows that the addition of RT after breast conserving surgery, allows to achieve a high local control without adding severe toxicity. A multidisciplinary approach seems to be the optimal management for early stages in this rare disease.     

Retroperitoneal and metachronous testicular germ cell tumors with different histology and teratoma growing syndrome--a case report

It is presented a case of a 32-year-old male with the three primary tumors diagnosed within a time period of 3 years; retroperitoneal nonseminoma in 2002, retroperitoneal mature teratoma in 2004, and metachronous testicular seminoma in 2005. We discuss the unusual presentation of these three rare events occurring in the same patient without known risk factors.     

A rare localization in right-sided endocarditis diagnosed by echocardiography: A case report

Background

Right-sided endocarditis occurs predominantly in intravenous drug users, patients with pacemakers or central venous lines and with congenital heart diseases. The vast majority of cases involve the tricuspid valve.

Case presentation

A case of a 31-year-old woman with intravenous drug abuse who had a right-sided vegetation attached to the muscular bundle of the right ventricle is presented. Transthoracic echocardiography revealed a vegetation in the right ventricular outflow tract. Transesophageal echocardiography clearly showed that the 1.8 cm vegetation was not adherent to the pulmonary valve but attached to a muscular bundle.

Conclusions

Our case points to an unusual location of right-sided endocarditis in intravenous drug users. It confirms that TTE remains an easy and highly sensitive first-line examination for the diagnosis of right-sided endocarditis.     

A case of normocalcemic primary hyperparathyroidism with osteomalacia

A 59 year-old patient had lumbago and pain in hip joints, knees, and ribs of long duration. Severe hypophosphatemia and high serum ionized calcium were found in spite of normal level of total serum calcium. The serum parathyroid hormone and alkaline phosphatase levels were elevated, and diffuse demineralization of the bones and renal stones were found by x-ray examination. Parathyroid adenoma was diagnosed from the subtraction image of the 99mTc O-4 and 201Tl-Cl2 scintigrams. Osteomalacia was demonstrated by bone biopsy at the right iliac crest. A right lower parathyroid adenoma of 2.0 X 1.8 cm, weighing 4.0 g was removed. The long standing phosphate depletion and hypophosphatemia, due to hyperparathyroidism causing renal damage with nephrocalcinosis and reduced synthesis of active vitamin D, and milk tolerance due to gastroduodenostomy were probably responsible for producing the clinical picture of normocalcemic hyperparathyroidism complicated with osteomalacia.     

A rare cause of chronic mesenteric ischemia from fibromuscular dysplasia: a case report

Introduction

Chronic mesenteric ischemia is a condition that is classically associated with significant atherosclerosis of the abdominal arteries, causing postprandial abdominal pain out of proportion to physical examination. The abdominal pain is exacerbated after meals due to the shunting of blood away from the intestines to the stomach, causing relative ischemia. More than 95% of chronic mesenteric ischemia cases are due to atherosclerosis. We report the first known case of chronic mesenteric ischemia from fibromuscular dysplasia. To the best of our knowledge, this is also the first known case in the literature where postprandial abdominal pain was the presenting symptom of fibromuscular dysplasia.

Case presentation

A 44-year-old Caucasian woman with a history of hypertension and preeclampsia, who had taken oral contraceptive pills for 15 years, presented with an intractable, colicky abdominal pain of two weeks duration. This abdominal pain worsened with oral intake. It was also associated with diarrhea and vomiting. Physical examination revealed stage III hypertension out of proportion to her risk factors and diffuse abdominal pain without peritoneal signs. An abdominal computed tomography scan, completed in the emergency room, revealed nonspecific colitis. Laboratory work revealed leukocytosis with a left shift, an erythrocyte sedimentation rate of 79 and a C-reactive protein level of 100. She was started on intravenous flagyl and intravenous ciprofloxacin. However, all microbial cultures were negative including three cultures for clostridium difficile. Urine analysis revealed nephritic range proteinuria. The laboratory profile was within normal limits for perinuclear-anti-neutrophil cytoplasmic antibody, cytoplasmic-anti-neutrophil cytoplasmic antibody, anti-saccharomyces cerevisiae antibody, antinuclear antibody test, celiac profile, lactate, carbohydrate antigen-125 and thyroid stimulating hormone. A colonoscopy was completed, which revealed diffuse colonic lymphoid reactive hyperplasia. A small bowel series was negative for any inflammation. An indium scan, pan-computed tomography scan and transvaginal ultrasound were also negative. Magnetic resonance angiography of her abdomen revealed proximal superior mesenteric artery stenosis, which was confirmed by computed tomography angiogram findings of severe proximal and distal superior mesenteric artery stenosis, consistent with the appearance of fibromuscular dysplasia on angiography in the absence of vasculitis or atherosclerotic disease. The patient's superior mesenteric artery stenosis was subsequently angioplastied suboptimally and had to be stented with an Angioplus stent. One month after she was admitted, her abdominal pain and tolerance to oral feeds improved tremendously.

Conclusion

Fibromuscular dysplasia most commonly presents with renal artery stenosis, which rarely causes abdominal pain. This case illustrates how fibromuscular dysplasia can present as a rare cause of chronic mesenteric ischemia, similar to chronic mesenteric ischemia from atherosclerosis.     

A rare case report of polyangiitis overlap syndrome: granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis

Background

Granulomatosis with polyangiitis (GPA) is a systemic ANCA-associated vasculitis characterized by necrotizing granulomatous inflammation and a predilection for the upper and lower respiratory tract. Eosinophilic granulomatosis with polyangiitis (EGPA) is also a systemic ANCA-associated vasculitis, but EGPA is characterized by eosinophilic as well as granulomatous inflammation and is more commonly associated with asthma and eosinophilia.Polyangiitis overlap syndrome is defined as systemic vasculitis that does not fit precisely into a single category of classical vasculitis classification and/or overlaps with more than one category. Several polyangiitis overlap syndromes have been identified, however, there are very few case reports of an overlap syndrome involving both GPA and EGPA in the medical literature.

Case presentation

We conducted a PUBMED literature review using key words ‘granulomatosis with polyangiitis,’ ‘Wegener’s,’ ‘GPA,’ ‘eosinophilic granulomatosis with polyangiitis,’ ‘Churg-Strauss,’ ‘EGPA,’ ‘overlap syndrome,’ ‘Wegener’s with eosinophilia,’ and ‘GPA with eosinophilia’ in English only journals from 1986 to 2017. Relevant case reports and review articles of overlap syndromes of GPA and EGPA were identified. We aim to report a unique case of GPA and EGPA overlap syndrome and review the cases that have been previously described.Between 1986 and 2017, we identified 15 cases that represent an overlap syndrome with compelling features of both GPA and EGPA. Patients ranged in age between 21 and 78. Of those whose gender was identified, 80 % of the patients were female. All cases described involved the lungs, 60 % reported sinus involvement, and more than 50 % displayed renal involvement. An overwhelming majority of patients were positive for c-ANCA and demonstrated eosinophilia (peripheral blood or tissue eosinophilia). A preponderance of the cases described were treated with systemic corticosteroids combined with an immunosuppressive/cytotoxic agents.

Conclusion

To our knowledge, there have been very few cases reported of an overlap syndrome of GPA and EGPA. Identification of patients with a polyangiitis overlap syndrome of GPA and EGPA is imperative as prognosis, longitudinal management and treatment modalities may differ between these entities.

     

Hydatid disease of the parotid gland: a rare case report

A 40-year-old female suffering from hydatid disease located in the parotid gland is presented. Although Greece remains an endemic area for echinococcosis, this presentation of the disease is rare. Total excision of the cyst with partial parotidectomy was performed. The patient refused to receive general anesthesia and the operation was carried out under local anesthesia. Perioperative adjuvant medical therapy with albendazole was administered. In a two-year follow-up no recurrence has occurred.