Case Of Rare Disease Research Articles

Cutaneous metastasis from pancreatic cancer: A case report and systematic review of the literature.

Cutaneous metastasis from pancreatic cancer is uncommon, therefore, the outcome of this progression has rarely been investigated. The aim of the present report was to evaluate the clinical characteristics of patients exhibiting cutaneous metastasis from pancreatic cancer. Thus, the current report presents a rare case of cutaneous metastatic disease from pancreatic cancer and describes a systematic review of the literature. A total of 54 articles comprising 63 cases were included for analysis. The relevant clinical and pathological characteristics, as well as the treatment strategies and survival outcomes of this rare disease presentation were reviewed. The average patient was was aged 63.9 years and males constituted a marginally greater proportion of the cohort (61.9%). The predominant manifestation of the cutaneous metastasis was a nodule or mass (73%) and the most common site of the skin lesion was non-umbilicus rather than umbilicus. The majority (66.7%) of the skin lesions were singular, particularly in patients exhibiting Sister Mary Joseph’s nodule (90%). A wide range of histological subtypes presented, with a predominance of adenocarcinoma (84.1%). Of the cases that specified the tumor differentiation grade, 78.2% were moderately or poorly differentiated. Immunohistochemistry revealed that cytokeratin (CK)20-negative, and CK7-, CK19- and carbohydrate antigen (CA)19-9-positive were specific diagnostic markers for pancreatic cancer. Distal metastases, excluding the skin, were observed in 68.3% of patients and the median survival period was 5 months. Treatment strategies including surgery, radiation, chemotherapy or a combination improved survival time from 3.0 to 8.3 months. Cutaneous metastasis from pancreatic cancer is a rare finding, often providing the only external indication of an internal malignancy and, therefore, should be considered in the differential diagnosis of skin lesions. Metastasis to the skin indicates a widespread, general dissemination and a poor prognosis. A combination of surgery, radiotherapy and chemotherapy appears to result in improved survival rates.

Modelling of human herpesvirus infections in humanized mice.

The human herpesviruses (HHVs) are remarkably successful human pathogens, with some members of the family successfully establishing infection in the vast majority of humans worldwide. Although many HHV infections result in asymptomatic infection or mild disease, there are rare cases of severe disease and death found with nearly every HHV. Many of the pathogenic mechanisms of these viruses are poorly understood, and in many cases, effective antiviral drugs are lacking. Only a single vaccine exists for the HHVs and researchers have been unable to develop treatments to cure the persistent infections associated with HHVs. A major hindrance to HHV research has been the lack of suitable animal models, with the notable exception of the herpes simplex viruses. One promising area for HHV research is the use of humanized mouse models, in which human cells or tissues are transplanted into immunodeficient mice. Current humanized mouse models mostly transplant human haematopoietic stem cells (HSCs), resulting in the production of a variety of human immune cells. Although all HHVs are thought to infect human immune cells, the beta- and gammaherpesviruses extensively infect and establish latency in these cells. Thus, mice humanized with HSCs hold great promise to study these herpesviruses. In this review, we provide a historical perspective on the use of both older and newer humanized mouse models to study HHV infections. The focus is on current developments in using humanized mice to study mechanisms of HHV-induced pathogenesis, human immune responses to HHVs and effectiveness of antiviral drugs.

Sacroiliac Joint Hydatidosis Mimicking Ankylosing Spondylitis: A Case Report

Skeletal involvement usually occurs by the dissemination of primary disease from the liver and lungs. Cases of vertebra, femur, tibia, and pelvic involvement have been previously reported.4 Skeletal involvement often presents with sciatica, hip and groin pain. Differential diagnosis is mostly confirmed with imaging modalities. We report a rare case of hydatid disease with sacroiliac joint involvement mimicking ankylosing spondylitis (AS). CASE REPORT

Automated semantic annotation of rare disease cases: a case study.

Motivation: As the number of clinical reports in the peer-reviewed medical literature keeps growing, there is an increasing need for online search tools to find and analyze publications on patients with similar clinical characteristics. This problem is especially critical and challenging for rare diseases, where publications of large series are scarce. Through an applied example, we illustrate how to automatically identify new relevant cases and semantically annotate the relevant literature about patient case reports to capture the phenotype of a rare disease named cerebrotendinous xanthomatosis.Results: Our results confirm that it is possible to automatically identify new relevant case reports with a high precision and to annotate them with a satisfactory quality (74% F-measure). Automated annotation with an emphasis to entirely describe all phenotypic abnormalities found in a disease may facilitate curation efforts by supplying phenotype retrieval and assessment of their frequency.Availability and Supplementary information: http://www.usc.es/keam/Phenotype Annotation/.Database URL: http://www.usc.es/keam/PhenotypeAnnotation/

Mitral valve Replacement in a 4 yrs old Child: First Time in Bangladesh

Congenital mitral valve incompetence is a rare and complex congenital heart disease in children. We report, a case of a 4-year-old child admitted to hospital with fever, dyspnea on exertion or feeding and repeated respiratory infection for last 3 years. The transthoracic echocardiogram revealed grossly dilated left atrium and left ventricle and severe mitral regurgitation due to cleft in anterior mitral leaflet. Per-operatively mitral valve annulus was found very much dilated; leaflet thinned out and rudimentary posterior mitral leaflet. Morphology of mitral valve was totally distorted, leaflets were diminutive and beyond repairable. Mitral valve replacement was done with 25 mm Edward Life Science porcine tissue heart valve with total preservation of subvalvular structure and the patient showed dramatic symptomatic improvement and later follow up revealed good LV function with alleviation of symptoms. This is a rare and unusual case of congenital mitral valve disease with better prognosis after surgical replacement with tissue valve. DOI: http://dx.doi.org/10.3329/cardio.v6i2.18362 Cardiovasc. j. 2014; 6(2): 167-169

KIKUCHI-FUJIMOTO DISEASE: A CASE REPORT AND REVIEW OF HISTOPATHOLOGICAL AND CLINICAL

Kikuchi-Fujimoto disease (KFD) or histiocytic necrotizing lymphadenitis is an idiopathic, benign, self-limited, rare disease. This disease is mostly encountered in Asia and in young adult. Cervical lymph node involvement is the most common symptom. In addition, fever, fatigue, increase in erythrocyte sedimentation rate, and leukocytopenia may also occur. A specific diagnosis and treatment for this disease has not been defined. The diagnosis of this disease however can be diagnosed with excision of lymph node and histopathological examination. KFD can often resolve spontaneously. If there is no spontaneous regression, oral corticosteroid therapy can be applied. In this case report, we were referred a rare case of Kikuchi-Fujimoto disease, presented with the cervical lymphadenopathy, increased erythrocyte sedimentation rate, and fever.

English

Castleman's disease is a benign lymphoproliferative disorder of an unknown etiology, occurring rarely in the pediatric population. It primarily occurs at the sites like chest, abdomen and rarely in the neck. We report a very rare case of Castleman's disease in an 8-year-old boy presenting with a localized mass in the right neck region. The child complained of vague clinical symptoms and local examination revealed a soft, non-tender and immobile mass in the neck. Laboratory studies were non-contributory. Ultrasonography of the head and neck helped in defining the neck mass, though the findings were non-specific. The mass was surgically excised and subjected to pathological examination. Histopathological assessment was consistent with Castleman's Disease, hyaline- vascular type. Follow up studies for a period of 6-months showed no evidence of recurrence of the lesion.

Polycystic Parotid Disease: A Rare Case Report

Polycystic (dysgenetic) parotid disease is a benign cystic condition of parotid gland arising from distal ductal system, commonly involving the parotid gland. It is commonly seen in females and is seen mostly involving the parotid gland bilaterally. Clinically it manifests as a slowly progressive, non tender fluctuant swelling of parotid gland with no defects in the salivary gland function. Here we report a rare case of polycystic parotid disease diagnosed in an 83 year old male patient.

Acute ST elevation myocardial infarction in an adult patient with anomalous origin of the left coronary artery from the pulmonary artery

Anomalous origin of the left coronary artery from the pulmonary artery is rare but causes myocardial ischemia and sudden death. A few patients with this anomaly can survive to adulthood without sufficient collateral coronary flow or surgical intervention. We present here a case of acute inferior myocardial infarction, which may occur due to thrombotic occlusion of the right coronary artery, in a 63-year-old woman with anomalous origin of the left coronary artery from the pulmonary artery, providing specific coronary angiographic findings.<Learning objective: In this manuscript, we present a rare case of coronary heart disease. The coronary angiography and the multidetector computed tomographic coronary angiography provided specific findings for the diagnosis.>

A Case of Castleman's Disease with Myasthenia Gravis

A rare case of Castleman's disease with myasthenia gravis is reported. A 55-year-old woman with bilateral ptosis, speech impairment, and severe dyspnea had been previously diagnosed with myasthenia gravis. Computed tomography showed a 5 cm × 3 cm paratracheal mass in the mediastinum, thought to be an ectopic thymoma. Two days after surgical resection, the patient suddenly developed dyspnea. Postoperative myasthenic crisis was diagnosed, and plasmapheresis was performed. Her general condition improved, and her subsequent course was uneventful. The final pathological diagnosis was mediastinal solitary Castleman's disease, hyaline vascular type. Castleman's disease with myasthenia gravis is especially rare. One of the serious complications is postoperative myasthenic crisis. For patients with myasthenia gravis, the rate of postoperative myasthenic crisis seems significantly higher in Castleman's disease patients than in patients with thymic epithelial tumors. Castleman's disease with myasthenia gravis is discussed along with a review of the literature.

EPA-1489 – Which atypical signs of schizophrenia may trigger us to treatable neuro metabolic diseases?

Organic schizophrenia, or schizophrenia-like syndrome is an important concern in psychiatry and various medical conditions and substances may be associated with it. Among them, Inborn Errors of Metabolism (IEM) are rare disease with interesting features : (i) some of them could be (or seems to be) presenting with schizophrenic psychiatric symptoms; (ii) when they are treatable, treatment leads to decrease schizophrenic symptoms; (iii) treatment is more efficient when beginning at early stage (i.e. before neurological or physical signs) and (iv) most psychiatrists have no specific knowledge about IEM. Moreover, IEM is a growing field in medicine because of improvement of biochemical and genetic techniques and new treatments are approved. Incidence is underestimated and psychiatric patients may be an at risk population. We propose a brief and comprehensive review of the literature focuses on treatable IEM with possible presenting psychiatric signs (Cerebrotendinous- Xanthomatosis, Wilson Disease, homocysteimia due to MTHFR deficiency, homocystinuria due to cystathionine beta-synthase deficiency, urea cycle disorders and Niemann Pick type C). We also present a simple diagnosis tool helping psychiatrist and caregivers in this field. The key objective is to devise a simple means of identifying patients with atypical psychiatric symptoms and to: (i) know when schizophrenic symptoms may be atypical and should draw our attention to organic disease, and IEM and (ii) learn which physical and neurological signs may trigger for each of the specific IEM. Looking for atypical signs of psychosis or minor physical signs may be extremely useful in rare cases of treatable disease.

Unicentric Castleman disease at an unusual site

We report a rare case of unicentric Castleman disease (UCD) in a 56-year-old lady, presenting as a soft-tissue mass in an unusual site - mid-dorsal aspect of the arm. She was otherwise asymptomatic. Excision biopsy confirmed the diagnosis. The probable etiological factors, clinical and morphological types, and histological diagnosis are discussed.

Rosai-dorfman disease in thoracic spine: a rare case of compression fracture.

Sinus histiocytosis with massive lymphadenopathy known as Rosai-Dorfman disease is characterized by painless bilateral cervical lymphadenopathy. Extranodal manifestations are uncommon and spinal involvement is rare. A 15-year-old man presented with intermittent midthoracic back pain only. He had no specific findings on neurologic examinations, hematologic and biochemical laboratory tests. Radiological examination of thoracic spine revealed collapse of T6 vertebrae with thoracic kyphosis and osteolytic lesion of T12 vertebra body. He underwent a removal of bone tumor, anterior reconstruction with mesh and pedicle screw fixation via posterior approach for pathologic confirmation and stabilization. Histopathologic study of the lesion revealed focal infiltration of large histiocytes showing emperipolesis. Immunochemistry stain of histiocytes was positive for CD68 and S-100 but negative for CD1a. This report presents a rare case and literature review of extranodal Rosai-dorfman disease in thoracic spine.

A rare case of occupational lung disease – talcosis

Talcosis/ Talcpneumoconiosis is one of the rarer forms of magnesium silicate induced lung disease, It usually occurs in the fourth decade and affects people working in talc related industries like roof, shingle, pharmaceutical companies, talcum powder industries, electric ceramics, rubber industry etc. We report a case of talc pneumoconiosis/talcosis in a 51yr old male who presented with breathlessness and dry cough for the past 5 yrs and progressively worsening for the past 5 days. Who was working in a talcum powder manufacturing company for >28yrs in the packaging section. The diagnosis was possible by history, clinical examination, Chest X-ray, PFT/DLCO, HRCT chest, Bronchoscopy & Trans bronchial lung biopsy showing interstitial fibrosis.

German approach of coding rare diseases with ICD-10-GM and Orpha numbers in routine settings

In Germany all physicians are compelled to code according to the International Statistical Classification of Diseases and Related Health Problems, 10th revision, German Modification (ICD-10-GM), according to the Statutory Health Insurance. The classification is in use since 2004 in the same Version for inpatient and outpatient care. Special coding guidelines are to be used for inpatient care. DIMDI provides an Index to the ICD-10-GM, which contains approx. 80.000 terms. For electronic use the index is published with a unique identifier (so called Alpha-ID). This enables electronic communication of diagnosis on a more granular level than the broad categories of ICD-10. In the German project “Coding of Rare diseases” (July 2013 – June 2016) all rare diseases from Orphanet will be coded according to ICD-10-GM and missing terms will be added to the ICD-10-GM-Index-Database. On a regular basis an Alpha-ID file with all indexed diagnostic terms together with the relevant codes from both systems will be published. Coders in Rare diseases Centers in Germany will be encouraged to use the two coding systems by implementing the file in their IT-systems. An evaluation of possible additional use of the file in existing IT-systems will be performed at the end of the project. The file could e.g. help to enable easy access to Orphanet for Users at the time of diagnosis, treatment, or when advising patient/family or coding from routine IT-applications in all kinds of healthcare settings. Two main goals are targeted with the project. First of all it is important to standardize coding of rare diseases in Germany by providing electronic files for easy implementation, which will result in standardized code pairs from the two systems. Selecting codes manually from the two different systems is a potential for errors in patient documentation and might lead to incorrect statistical evaluation of rare disease cases. Secondly the aim of DIMDI is to reduce the administrative burden on the health care system in Germany whenever possible. By providing two coding systems in one file the coder will have to perform the coding just once, a significant reduction of time.

Flow cytometric identification of 76 patients with biclonal disease among 5523 patients with chronic lymphocytic leukaemia (B‐CLL) and its genetic characterization

Multiparameter flow cytometry (MFC) identifies rare cases of biclonal disease in chronic lymphocytic leukaemia (CLL). By MFC, we identified 76 patients with biclonal disease in a cohort of 5523 CLL patients (1·4%). Fluorescence in situ hybridization and chromosome banding analysis revealed five and six cases, respectively, with two different cytogenetic aberrations due to clonal evolution. Two different B-cell receptor rearrangements and IGHV subtypes were more frequent in biclonal than in monoclonal CLL by MFC (37·1% vs. 2·7%; P < 0·001). Patients with biclonal CLL by MFC showed a trend to a shorter time to treatment than monoclonal CLL (P = 0·080).

Cushing's disease presenting with gastrointestinal perforation: a case report

Gastrointestinal perforation is a complication associated with steroid therapy or hypercortisolism, but it is rarely observed in patients with Cushing's disease in clinical practice, and only one case has been reported as a presenting symptom. Herein, we report a rare case of Cushing's disease in which a patient presented with gastrointestinal perforation as a symptom. A 79-year-old man complained of discomfort in the lower abdomen for 6 months. Based on the endocrinological and gastroenterological examinations, he was diagnosed with Cushing's disease with a perforation of the descending colon. After consultation with a gastroenterological surgeon, it was decided that colonic perforation could be conservatively observed without any oral intake and treated with parenteral administration of antibiotics because of the mild systemic inflammation and lack of abdominal guarding. Despite the marked elevated levels of serum cortisol, oral medication was not an option because of colonic perforation. Therefore, the patient was submitted to endonasal adenomectomy to normalize the levels of serum cortisol. Subsequently, a colostomy was successfully performed. Despite its rarity, physicians should be aware that gastrointestinal perforation may be associated with hypercortisolism, especially in elderly patients, and immediate diagnosis and treatment of this life-threatening condition are essential. If a perforation can be conservatively observed, endonasal adenomectomy prior to laparotomy is an alternative treatment option for hypercortisolism.Learning points Thus far, only one case of gastrointestinal perforation as a presenting clinical symptom of Cushing's disease has been reported.Physicians should be aware that gastrointestinal perforation might be associated with hypercortisolism in elderly patients because elevated levels of serum cortisol may mask the clinical signs of perforation. Because of this masking effect, the diagnosis of the perforation also tends to be delayed.Although parenteral administration of etomidate is a standard treatment option for decreasing the elevated levels of serum cortisol, endonasal adenomectomy prior to laparotomy is an alternative treatment option if etomidate therapy is unavailable.

Immune cell subtyping in the cerebrospinal fluid of patients with neurological diseases

The analysis of cerebrospinal fluid (CSF) with the assessment of CSF cell counts and proteins is an important method in the diagnostic workup of neurological diseases. As an addition to this standard approach, we here present data on the distribution of CSF immune cell subsets in common neurological diseases, and provide reference values along with cases of rare neurological diseases. CD4+ and CD8+ T cells, the CD4/CD8 ratio, B cells, plasmablasts, monocytes and NK cells in the CSF of 319 patients with inflammatory or non-inflammatory neurological diseases were analysed by seven-color flow cytometry. Diagnoses included headache, idiopathic intracranial hypertension, Guillain-Barré syndrome, multiple sclerosis, Lyme neuroborreliosis, bacterial and viral meningitis, human immunodeficiency virus (HIV) infection, stroke, and CNS malignancies, among others. T cells were the predominant population in the CSF with CD4+ T cells being more prevalent than CD8+ T cells. Mostly in HIV patients, and under other conditions of immunosuppression, CD4+ and CD8+ T cells were significantly altered and the CD4/CD8 ratio reduced. B cells and plasmablasts could hardly be detected in non-inflammatory diseases but were consistently elevated in inflammatory diseases. Monocytes were reduced in neuroinflammation and showed a negative correlation with B cells. NK cells were slightly elevated in neuroinflammation. Both monocytes and NK cells were slightly elevated in CNS malignancies. The analysis of immune cell subsets in the CSF adds valuable information to clinicians and is a promising tool for the differential diagnosis of neurological diseases.

Hypercalcemia in Chronic Liver Disease: A Rare Entity

Purpose: Chronic liver disease is usually associated with hypocalcemia as a result of hypoalbuminemia. We present a rare case of chronic liver disease associated with hypercalcemia. Hypercalcemia in chronic liver disease, in absence of hepatoma, is an extremely rare and a poorly understood entity, with only 17 cases reported in the literature. Methods: We present a 50-year-old female with hemochromatosis-induced liver cirrhosis who was admitted with abdominal pain following peritoneal tap. She had an expanding anterior wall hematoma confirmed by CT scan. On examination, she was grossly icteric, but not encephalopathic. Labs revealed worsening liver enzymes. Total bilirubin peaked around 10 days, at 31.6, before starting to trend down. She also had new onset hypercalcemia (serum calcium 12) during this admission. Extensive evaluation of hypercalcemia was pursued. Her PTH was appropriately suppressed, and vitamin D was low, ruling out parathyroid adenoma or vitamin D toxicity. PTH-rP and AFP were normal, as was TSH and T4, ruling out malignancy and hyperthyroidism as etiology. Normal BUN and low-to-normal bicarbonate ruled out renal etiology for hypercalcemia. Imaging was negative for granulomatous disease process. No family history or personal history of colon cancer or familial hypocalciuric hypercalcemia. She had not been bed-bound for a long period. After extensive work-up for usual causes, hypercalcemia was thought to be secondary to chronic liver disease, worsened by acute illness. Interestingly, her hypercalcemia gradually resolved later as her bilirubin improved, confirming our suspicion. Results: Hypercalcemia induced by advanced chronic liver disease is a poorly understood phenomenon, and a diagnosis of exclusion. It is associated with high bilirubin levels, and the serum calcium can reach very high levels. With elevated total bilirubin, there is direct effect and indirect effect, with down regulation of osteogenic factors like RUNX2, and upregulation of osteoclastogenesis factors like RANKL/OPG gene expression. This causes increased bone turnover and loss of calcium, causing hypercalcemia. Also, with development of renal failure or hepatorenal syndrome, patients have decreased renal excretion and may develop hypercalcemia. Calcium level improves with improvement of bilirubin, and is responsive to bisphosphonate treatment. Conclusion: Hypercalcemia induced by advanced chronic liver disease without hepatoma is an exquisitely rare condition, with only 17 cases described to date in the literature. Clinician awareness is essential to pick this rare entity, as early bisphophonate treatment leads to resolution of hypercalcemia and better outcome.

Immunoglobulin G4-Related Disease of the Heart Causing Aortic Regurgitation and Heart Block

Immunoglobulin (Ig) G4-related disease is a novel disease entity characterized by diffuse lymphoplasmacytic infiltrates and the presence of abundant IgG4-positive plasma cells in extensive fibrosis, frequently associated with tumorous swelling lesion and elevated serum IgG4 concentrations. Immunoglobulin G4-related disease has been described in almost every organ system but rarely affects the heart. We describe a rare case of IgG4-related disease of the heart causing aortic regurgitation and heart block in a 59-year-old woman. The excised lesion revealed a high ratio of IgG4-positive to IgG-positive plasma cells, providing a definite diagnosis of IgG4-related disease. The aortic valve was replaced using Manouguian technique, resulting in a favorable outcome.