Rare deseases

This is a case report of a Chinese adolescent boy who had multiple autoimmune syndrome (MAS) of a rare combination comprising type 1 diabetes, Hashimoto thyroiditis and childhood-onset systemic lupus erythematosus (SLE). He developed SLE within one year of symptom onset, presenting with necrotising histiocytic lymphadenitis and hepatitis. We highlight the importance for physicians to be aware of the need for continued surveillance for developing new autoimmune diseases in patients with multiple autoimmune diseases...

Genital tuberculosis is a rare and unexpected disease in European countries including Croatia. Diagnosis of female genital tract tuberculosis is challenging and is rarely pin-pointed by clinical symptoms because of their low specificity. The authors decided to present a case of genitourinary tuberculosis in a young, immunocompetent fertile woman with high clinical suspicion of abdominal tumor mass. Although considered a desease of the past, rare clinical presentation of genital tuberculosis should be expected and taken into account...

BACKGROUND: Chronic venous disease (CVD), comprising impaired lower limb venous return, will lead to chronic distal venous pressure overload manifested by various clinical signs and symptoms and resulting in diminished quality of life. The CEAP (Clinical, Etiology, Anatomy, and Pathophysiology) classification of CVD distinguishes six stages (C0-C6) using clinical, etiologic, anatomic, and pathophysiologic parameters. In the present study, we analyzed the effects of adapted physical activity (APA) and patient-oriented therapeutic education (PTE) programs on the clinical signs, symptoms, and quality of life of patients with CVD...

Purpose: The effect of chronic limb threatening ischemia (CLTI) on advanced cardiac disease, which requires surgical treatment, has rarely been reported. The purpose of this study was to review the outcomes of cardiac surgery in patients with CLTI and determine the risk factors, with a particular focus on the severity of CLTI. Patients: The baseline characteristics and outcomes of 33 patients who were treated for CLTI and underwent cardiac surgery were retrospectively analyzed...

Carcinoid heart disease is a rare condition affecting mostly tricuspid and pulmonary valves causing right-sided heart failure. Surgical valve replacement is the mainstay of treatment when patients become symptomatic and/or in the presence of right heart remodeling. We present a case of severe pulmonary valve regurgitation secondary to carcinoid heart disease occurring 4 years after a surgical tricuspid replacement, successfully treated with direct transcatheter pulmonary valve implantation without pre-stenting...

Sitosterolemia is an inherited metabolic disorder characterized by increased levels of plant sterols, such as sitosterol. This disease is caused by loss-of-function genetic mutations in ATP-binding cassette (ABC) subfamily G member 5 or member 8 (ABCG5 or ABCG8, respectively), both of which play important roles in selective excretion of plant sterols from the liver and intestine, leading to failure to prevent absorption of food plant sterols. This disorder has been considered to be extremely rare. However, accumulated clinical data as well as genetics suggest the possibility of a much higher prevalence...

Tuberculosisis is a serious desease, causing high morbidity and mortality. It includes frequent extra-pulmonary forms, polymorphic in their clinico-radiological presentation, resultsing in a delayed diagnosis. We report the case of a rare association of renal tuberculosis and Pott's disease. It is the case of a 19-year-old patient. He has two brothers on chronic hemodialysis. He is hospitalized for exploration of a lumbar mass and a cachectic state. Radiological imaging (MRI, scanner) suggests osteosarcoma...

Introduction: Gestational trophoblastic desease (GTD) is disease typical for reproductive period of women and is extremly rare in postmenopausal period of woman's life. Aim: To present a rare case of mollar pregnancy in 57 years of age postmenopausal woman. Case report: A multiparous woman aged 57 years, and two yars after last menstrual bleeding, was admitted at Clinic, due to hyperplastic endometrium findings and moderate prolonged postmenopausal uterine bleeding...

Dermoid cysts are rare benign intracranial neoplasms derived from embryonal remnant tissues. Here, we describe a case of dermoid cyst located in the right frontal lobe, which showed repeated changes on CT. An 11-year-old girl was referred to our hospital to treat a brain neoplasm. Brain CT and MRI revealed a cystic tumor in the right frontal lobe. Incidentally, brain CT had been performed 6, 2, and 1 year before the presentation, which demonstrated repeated changes in the tumor over the clinical course. Gross total resection of the tumor was achieved through right frontal craniotomy...

INTRODUCTION: Contralateral axillary lymph node metastases (CAMs) in patients with breast cancer are rare (Daoud et al., 1998); however, CAMs may be already detected at the time of primary breast cancer diagnosis (synchronous CAM) or after a previous treatment of breast cancer as a recurrence if not as an ipsilateral breast recurrence (IBR) (metasynchronous CAM) (Zhou and Richir, 2013). The involvement of the contralateral axilla could be caused by a systemic disease (stage IV), a regional metastasis from a new occult primary tumor (T0N1, stage II) or a breast cancer recurrence It may also arise from a locally advanced disease in a patient who has suffered from a primary breast cancer...

BACKGROUND: Transient paraplegia of the lower limbs is a rare condition and, when has a vascular etiology, is usually associated with thromboembolic events, aortic dissection, aortic aneurysms, or as a complication of the surgical correction of those diseases. There is no case reported of acute paraplegia caused by a segmental thrombotic subocclusion of the descending thoracic aorta. CASE REPORT: We report a not yet described clinical situation of a young patient (51 years) admitted to the emergency care department for treatment of systemic arterial hypertension of difficult control with 4 antihypertensive medication classes...

OBJECTIVE: Adult liver Langerhans cell histiocytosis (LCH) is an extremely rare desease. This paper reports a 40 years old male patient who was diagnosed as liver LCH though ultrasound-guided liver biopsy. The initial Fluorrine-18- fluorodeoxyglucose positron emission tomography/ computed tomography (18 F-FDG PET/CT) showed multiple nodular low-density lesions in liver without obvious elevated 18 F-FDG uptake. Four years later, the follow-up 18 F-FDG PET/CT showed the liver multiple lesions with slightly elevated 18 F-FDG uptake...

BACKGROUND: The increased use of laparoscopy has resulted in certain complications specifically associated with the laparoscopic approach, such as port-site incisional hernia (PIH). Until today, it is not finally clarified if port-site closure should be performed by fascia suture or not. Furthermore, the optimal treatment strategy in PIH (suture vs. mesh) is still widely unclear. The aim of this study was to present our experience with PIH in two independent departments and to derive possible treatment strategies from these results...

INTRODUCTION: The annular pancreas is a congenital anomaly in which pancreatic tissue partially or completely surrounds the second portion of the duodenum. Its often located above of papilla of Vater (85%), rarely below (15%). This pancreatic tissue is often easily dissociable to the duodenum but there is same cases where it the tissue is into the muscolaris wall of the duodenum. MATERIAL AND METHODS: We describe three case of annular pancreas hospitalized in our facility between January 2004 and January 2009...

The rare combination of intestinal lymphangiectasia with malrotation of the duodenum in a child of three months of life is described. Basing on the literature review only 3 similar cases were described in the world practice. The boy with protein-losing enteropathy was examined at Moscow Scientific Centre of Children's Health. The child had vomiting, diarrhea, loss in body weight, hypoproteinemia, lymphopenia. The infectious nature of the disease was excluded. It had been suggested the Waldman desease (primary intestinal lymphangiectasia)...

UNLABELLED: Endometriosis represent the presence and proliferation of functional endometrial-like tissue outside the uterine cavity, and is a chronic, recurrent, debilitating desease, in which kidney implications are rare, but complex. OBJECTIVE: Evaluation of clinical, imagistic and surgical implications of uretero-hydronephrosis secondary to recurrent pelvic endometriosis. MATERIAL AND METHODS: 30 year old patient diagnosed with primary infertility and left ovarian endometriosis (treated with classically conservative surgical procedure), presented acute onset of obstructive urinary symptoms, requiring internal drainage of the upper urinary straight path (Cook probe) for uretero-hydronephrosis grade III...

Langerhans cell histiocytosis is a rare, clinically heterogeneous disease. Since there is considerable clinical overlap among the four described variants (Hand-Schüller-Christian, eosinophilic granuloma, Letterer-Siwe and Hashimoto-Pritzker), the concept of spectral disease applies to this entity. The Hashimoto-Pritzker variant was first described in 1973. Characteristically, it is present at birth or during the first days of life, impairment is limited to the skin and prognosis is favorable with spontaneous resolution...

BACKGROUND: Cholecystoduodenal fistula (CD) is a rare complication of gallstone disease. Laparoscopic stapling techniques have been reported as feasible methods for treating this fistula, however these procedures are not always performed successfully. We have reported five cases of CD diagnosed intraoperatively, managed successfully by laparoscopic approach. MATERIALS AND METHODS: During the 3-year period, from 2007 to 2009, 1500 patients underwent LC for gallstone desease, five of them (3...

The Hydatid desease of the liver is without exactly pointed pathological syndrome. Frequently this disease is promoting with some kinds of masks: allergies, hyperpirexis without suppuration of the cyst bile duct pathological motilities, portal hypertension, icterus, abdominal mass, neuroses than all of those make medic difficulted at the diagnostic process. Some cases of diagnostic lapse are note rare or correct discover getting just on the surgical table. Because of this it is very imported to recognize those masks and always look for hydatid disease...