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Sample records for erdheim-chester disease case

  1. Erdheim-Chester disease: A case report

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    Petrović Stanko

    2017-01-01

    Full Text Available Introduction. Erdheim-Chester disease (ECD is a rare non-Langerhans-cell histiocytosis. About 500 cases are published so far. It is multisystemic disease characterised by bilateral symmetric long bones sclerosis. Main histopathological finding is accumulation of big foamy histiocytes, immunohistochemically positive to CD68, and negative to S-100 and CD1a. There are no guidelines that reliably identify population that requires therapy, but symptomatic ECD, organ failure and central nervous system involvement re-quire treatment. Case report. We described a patient with a multisystemic form of ECD affecting long bones, the hypophysis, abdomen, and the peripheral nerves. Five years after initial symptoms ECD was suspected. Prednison was initiated, 60 mg once a day. After obtaining the diagnosis of ECD, interferon alpha 2A was introduced, but soon after stopped due to severe side effects. Considering that histiocytes were positive to platelet derived growth factor receptor alpha (PDGFR alpha imatinib mesylate was started, but after two months stopped due to no clinical and radiological improvement. The disease was worsening and the patient died. Conclusion. We described the patient with intraperitoneal form of ECD, without cardiac and pulmonary involvement. There are several important issues: the diagnosis of ECD could be difficult to make, three treatment regimens were included and the patient died nine years after the initial symptoms due to indolent course of the disease and unsuccessful treatment.

  2. Bone scintigraphy in Erdheim-chester disease: a case report

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    Siqueira, V.L.; Soares, L.M.M.; Ribeiro, V.P.B.; Coura Filho, G.B.; Sapienza, M.T.; Ono, C.R.; Watanabe, T.; Costa, P.L.A.; Hironaka, F.; Buchpiguel, C.A. [Universidade de Sao Paulo (FM/USP), SP (Brazil). Fac. de Medicina. Hospital das Clinicas

    2008-07-01

    Full text: Introduction: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis, of unknown etiology, characterized by infiltration of foamy histiocytes. Clinically, patients usually present with bone pain, and various extraskeletal manifestations. ECD differs from Langerhans cell histiocytosis (LCH) by radiologic and immunohistochemistry features. Case report: A 57-year-old woman presented with a history of intense pain on her left hand, besides eyelid xanthelasmas and xanthoms on frontal area ten years ago. Four years late she presented with pain on hips, legs and feet. Xanthoms spread to perioral area, mento and neck. Radiographs of the hands showed osteolysis of carpal bones bilaterally, osteolysis of fifth left metacarpal bone, osteosclerosis of all metacarpal bones bilaterally, except the fifth, and osteosclerosis of the second and third proximal falanges bilaterally. The legs showed bilateral diaphyseal and metaphyseal osteosclerosis. Bone scintigraphy demonstrated increased uptake on face bone (maxilla), and symmetric intense uptake on elbows, distal radii and ulnae, hands, distal area of femurs, tibias particularly on proximal and distal area, and feet. A tibia biopsy and a biopsy of neck lesion were made. The analysis of histology and immunohistochemistry were consistent with ECD. She has been treated with a-interferon for 1,5 year, and she reports delay in xanthoms progression and bone pain remission. Discussion: ECD is an adult multisystemic xanthogranulomatous infiltrative disease of unknown etiology. It may be confused with LCH, however ECD have distinctive immunohistochemistry and radiologic findings. LCH shows typically lytic bone lesions on axial skeleton, whereas symmetrical long-bone osteosclerosis is the radiologic sign for ECD. LCH stain positive for CD1a and S-100 protein, and the electron microscopy of cytoplasm discloses Biberck granules. ECD stain positive for CD68, negative for CD1a and S-100 protein, shows absent of

  3. An unusual Erdheim-Chester disease with orbital involvement: a case report

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    Giuseppe Brunori

    2016-11-01

    Full Text Available Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis with multiorgan involvement and a specific tropism for perivascular and fatty connective tissue, of unclear origin, with poor response to therapy. Its identification is difficult because of the variable clinical presentation and its lack of knowledge. We report the case of a 63-years-old woman, with a history of bilateral orbital pseudotumor, who comes to our attention because of progressively worsening asthenia, vomiting and systemic inflammation. Total body computerized tomography scan showed a volumetric increase of choroid plexus of the temporal horn of the left lateral ventricle, presence of solid retrobulbar tissue at the level of both maxillary sinuses, lung fibrosis, and retroperitoneal and peri-aortic infiltration. The association of these signs addressed to a diagnosis of Erdheim-Chester disease. Thus, although extremely rare, the diagnosis of Erdheim-Chester disease must be considered in the case of bilateral retro-orbital tumors and multisystemic involvement.

  4. Erdheim Chester disease with appendicular skeletal, renal and pleural involvement responding to Zelboraf (BRAF inhibitor) treatment: case report

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    Borys, Dariusz [Loyola University Medical Center Chicago, Department of Pathology, Maywood, IL (United States); Loyola University Medical Center Chicago, Departmet of Orthopaedic Surgery, Maywood, IL (United States); Loyola University Medical Center, Maywood, IL (United States); Nystrom, Lucas [Loyola University Medical Center Chicago, Departmet of Orthopaedic Surgery, Maywood, IL (United States); Song, Albert [Loyola University Medical Center Chicago, Department of Radiology, Maywood, IL (United States); Lomasney, Laurie M. [Loyola University Medical Center Chicago, Departmet of Orthopaedic Surgery, Maywood, IL (United States); Loyola University Medical Center Chicago, Department of Radiology, Maywood, IL (United States)

    2016-10-15

    Erdheim Chester disease is a rare non-Langerhans cell histiocytosis which may involve multiple organs including bone, soft tissue, lungs, cardiovascular system, kidneys (retroperitoneum), skin, and central nervous system. Bone involvement is most common followed by other organs. This case report describes a 58-year-old man who presented with progressive renal dysfunction presumed due to obstruction. The patient failed multiple urinary tract interventions, and clinical course was complicated by recurrent low-grade fevers, and bilateral knee pain. Advanced imaging and histopathological features on bone biopsy were consistent with Erdheim Chester disease. Molecular studies of tissue showed BRAF V600 mutation. This patient was treated with Zelboraf (vemurafenib) BRAF inhibitor with subsequent improvement in renal and pleural dysfunction as well as decreased histiocytic soft tissue masses on CT. (orig.)

  5. A Case of Cerebral Erdheim-Chester Disease With Progressive Cerebellar Syndrome

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    Na, Sang-Jun; Lee, Kee Ook; Kim, Jung Eun; Kim, Yong-Duk

    2008-01-01

    Erdheim-Chester disease (ECD) is a rare non-Langerhans form of histiocytosis. Cerebellar involvement is rare in this syndrome. We report a 37-year-old woman with slowly progressive cerebellar ataxia, dysmetria of limbs, nystagmus, and dysarthria, bilateral painful axillary masses, and generalized arthralgia. Brain MRI revealed cerebellar atrophy with focal lesions in the pons, middle cerebellar peduncle, and the cerebellum. She underwent incisional biopsy of her axillary masses which showed f...

  6. [Erdheim-Chester disease, an incredible simulator. Cases reports and review of literature].

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    Rascón-Ramírez, Fernando J; Avecillas-Chasín, Josué M; Rodríguez-Boto, Gregorio; Subhi-Issa, Issa; Salazar A, Osman A; Sallabanda D, Kita

    Erdheim-Chester disease is a non-Langerhans histiocytosis. Until 2014 at least 550 cases have been reported. According to European Rare Disease Organization and National Organization for Rare Disorders it is a rare disease. The most common symptom is bone pain in the lower extremities and it usually appears between the 5th and 7th decades of life. The diagnostic is based on immunohistochemical results: S100(+/-), CD68(+), and CD1a(-), the latter 2 are mandatory. The best treatment nowadays is alpha-interferon or pegylated alpha-2. The overall survival is 96% at one year and 68% at 5 years. Central nervous system involvement is associated with a worse outcome. Two cases are presentedwith central nervous system lesions in the absence of lesions in other organs on their onset. Very few cases have been reported with this kind of presentation. We also noted that these patients had recurrences or new lesions at 8 months. A follow-up is proposed with brain MRI and thoraco-abdominal PET every 3-4 months. Copyright © 2016 Sociedad Española de Neurocirugía. Publicado por Elsevier España, S.L.U. All rights reserved.

  7. Erdheim-Chester disease: a systematic review.

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    Cives, Mauro; Simone, Valeria; Rizzo, Francesca Maria; Dicuonzo, Franca; Cristallo Lacalamita, Marirosa; Ingravallo, Giuseppe; Silvestris, Franco; Dammacco, Franco

    2015-07-01

    Erdheim-Chester disease (ECD) is a rare form of non-Langerhans-cell histiocytosis, associated in more than 50% of cases to BRAF(V600E) mutations in early multipotent myelomonocytic precursors or in tissue-resident histiocytes. It encompasses a spectrum of disorders ranging from asymptomatic bone lesions to multisystemic, life-threatening variants. We reviewed all published reports of histologically-confirmed ECD and explored clinical, radiological, prognostic and therapeutic characteristics in a population of 448 patients, including a unique patient from our Department. To find a clinically relevant signature defining differentiated prognostic profiles, the patients' disease features were compared in relation to their CNS involvement that occurred in 56% of the entire population. Diabetes insipidus, visual disturbances, pyramidal and extra-pyramidal syndromes were the most recurrent neurological signs, whereas concomitant pituitary involvement, retro-orbital masses and axial lesions in the presence of symmetric bilateral osteosclerosis of long bones depicted the typical ECD clinical picture. Patients with CNS infiltration showed a lower occurrence of heart involvement and a higher incidence of bone, skin, retro-peritoneal, lung, aortic and renal infiltration. No difference in the therapeutic algorithm was found after stratification for CNS involvement. A better understanding of the disease pathogenesis, including BRAF deregulation, in keeping with improved prognostic criteria, will provide novel suggestions for the management of ECD. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  8. Peculiar Distribution of Tumorous Xanthomas in an Adult Case of Erdheim-Chester Disease Complicated by Atopic Dermatitis

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    Yukako Murakami

    2011-05-01

    Full Text Available Erdheim-Chester disease is a rare non-Langerhans form of histiocytosis with multiple organ involvement. Approximately 20% of patients have xanthoma-like lesions, usually on the eyelids. We report a case of Erdheim-Chester disease in a 32-year-old male who showed peculiar xanthomatous skin lesions and also had atopic dermatitis. His skin manifestations included ring-like yellowish tumors on his periorbital regions, rope necklace-like tumors on his neck, and spindle-shaped tumors on his right preauricular region and cubital fossas. He also had exophthalmos and diabetes insipidus. Chronic eczematous lesions were present on the flexor aspect of his extremities, and his serum eosinophil numbers and immunoglobulin E levels were elevated. A histological examination of his right neck tumor showed foamy macrophages and touton-type giant cells, which were positive for CD68 and CD163 and negative for S-100 and CD1a. We suggest that the complication of atopic dermatitis may have contributed to the uncommon clinical features in this case.

  9. A Rare Case of Erdheim-Chester Disease and Langerhans Cell Histiocytosis Overlap Syndrome

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    Shahzaib Nabi

    2015-01-01

    Full Text Available A 48-year-old woman with a past medical history of seizures and end-stage renal disease secondary to obstructive uropathy from retroperitoneal fibrosis presented to the emergency department with seizures and altered mental status. A Glasgow Coma Scale of 4 prompted intubation, and she was subsequently admitted to the intensive care unit. Magnetic resonance imaging of the brain performed to elucidate the aetiology of her seizure showed a dural-based mass within the left temporoparietal lobe as well as mass lesions within the orbits. Further imaging showed extensive retroperitoneal fibrosis extending to the mediastinum with involvement of aorta and posterior pleural space. Imaging of the long bones showed bilateral sclerosis and cortical thickening of the diaphyses. Imaging of the maxillofacial structures showed osseous destructive lesions involving the mandible. These clinical and radiological features were consistent with a diagnosis of Erdheim-Chester disease; however, the patient’s skin biopsy was consistent with Langerhans cell histiocytosis.

  10. A case of Erdheim Chester disease with central nervous system involvement

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    Anil Kumar Patil

    2015-01-01

    Full Text Available Erdheim Chester disease (ECD is a rare non-Langerhans cell histiocytosis, commonly involving the musculoskeletal system. Other tissue can also be involved, including the central nervous system with wide spectrum of clinical features, at times being nonspecific. This can cause diagnostic dilemmas with delay in diagnosis and initiation of therapy. Here we describe a 63-year-old man who had presented with ataxia and behavioral changes, bony pains, weight loss, and fatigue. His computed tomography (CT, 99Tc scintigraphy and histopathological features on bone biopsy were consistent with ECD. Thus, ECD should be considered as a differential diagnosis in patients presenting with bony pain and nonspecific features of multiorgan involvement.

  11. Epiphyseal involvement in Erdheim-Chester disease: radiographic and scintigraphic findings in a case with lytic lesions

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    Ruiz-Hernandez, G.; Tajahuerce-Romera, G.M.; Latorre-Ibanez, M.D.; Lara-Pomares, A. [Servicio de Medicina Nuclear, Hospital Provincial de Castellon (Spain); Vila-Fayos, V. [Servicio de Reumatologia, Hospital Comarcal de Vinaroz (Spain)

    2000-08-01

    We reported a symmetric increase of activity in lower links secondary to Erdheim-Chester disease and demonstrated by bone scans and radiographs. An inusual scintigraphic and radiographic appearance with epiphyseal involvement and lytic lesions is described. Differential diagnosis of bone scan and radiographic findings is discussed. (orig.)

  12. Multisystem Radiologic Manifestations of Erdheim-Chester Disease

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    Umairullah Lodhi

    2016-01-01

    Full Text Available Erdheim-Chester Disease is a rare form of multiorgan non-Langerhans’ cell histiocytosis that affects individuals between the ages of 50 and 70 with an equal distribution among males and females. It is associated with significant morbidity and mortality that is mostly due to infiltration of critical organs. Some of the sites that Erdheim-Chester Disease affects include the skeletal system, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum, and skin. The most common presenting symptom of Erdheim-Chester Disease is bone pain although a large majority of patients are diagnosed incidentally during a workup for a different disease process. Diagnosing Erdheim-Chester Disease is challenging due its rarity and mimicry to other infiltrative processes. Therefore, a multimodality diagnostic approach is employed with imaging being at the forefront. As of date, a comprehensive radiologic review of the manifestations of Erdheim-Chester Disease has rarely been reported. Here we present radiologic findings of an individual suffering from Erdheim-Chester Disease.

  13. Pineal gland involvement in Erdheim-Chester disease detected on (18)F-FDG PET-CT imaging: a case report and review of literature.

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    Mukherjee, Anirban; Dhull, Varun Singh; Karunanithi, Sellam; Sharma, Punit; Durgapal, Prashant; Kumar, Rakesh

    2014-01-01

    Erdheim-Chester disease (ECD) is a rare non-Langerhan's cell histiocytosis affecting multiple organ systems. The most common systemic manifestations are bone lesions, infiltration of the pituitary stalk sometimes leading to diabetes insipidus, pulmonary fibrosis, cardiac failure and exophthalmus. Neurological symptoms as the first clinical manifestations of ECD have been reported in less than one third of cases. We report a rare presentation of a patient of ECD on 18F-fluorodeoxyglucose ((18)F-FDG) positron emission tomography-computed tomography which revealed abnormal (18)F-FDG accumulation in the region of pineal gland, pericardium and bilateral distal tibiae. Copyright © 2014 Elsevier Inc. All rights reserved.

  14. Erdheim-Chester disease: radiographic findings in five patients

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    Bancroft, L.W.; Berquist, T.H. [Department of Diagnostic Radiology, Mayo Clinic Jacksonville, Jacksonville, FL (United States)

    1998-03-01

    We present the case histories of five patients with Erdheim-Chester disease, a rare lipoidosis that has several typical radiographic features. In all the patients, the diaphyses and metaphyses of the extremities demonstrated a symmetric pattern of diffuse or patchy increased density, a coarsened trabecular pattern, medullary sclerosis, and cortical thickening. The epiphyses were spared in four patients and partially involved in one. The axial skeleton was involved in one patient. Radiotracer {sup 99m}Tc accumulated in areas of radiographic abnormalities in all patients. In one patient, MRI demonstrated an abnormal signal, corresponding to radiographic abnormalities. The signal was hypointense to muscle on T1-weighted sequences and heterogeneously hyperintense and hypointense to normal bone marrow on T2-weighted sequences. Xanthogranulomatous lesions infiltrated the retroperitoneum in one patient, the testes in one patient, the eyelids in one patient, and the orbits in two patients. (orig.) With 10 figs., 12 refs.

  15. Erdheim-Chester disease: a rare cause of recurrent fever of unknown origin mimicking lymphoma.

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    Mariampillai, Anusiyanthan; Sivapiragasam, Abirami; Kumar, Amit; Hindenburg, Alexander; Cunha, Burke A; Zhou, Jianhong

    2014-01-01

    We report the case of a patient with recurrent fever of unknown origin (FUO) with prominent back pain, hepatosplenomegaly, and abdominal/pelvic adenopathy suggesting lymphoma. A bone biopsy showed histiocytic infiltration. Studies for lymphoma were negative, but immunohistochemical stains were diagnostic of Erdheim-Chester disease (ECD). ECD should be included as a rare cause of recurrent FUO with bone involvement.

  16. Erdheim-Chester disease: atypical presentation of a rare disease.

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    Calandra, Cristian Ricardo; Bustos, Ariel; Falcon, Florencia; Arakaki, Naomi

    2017-10-11

    We report the clinical case of an adult patient referred to our hospital because of trismus due to a tumour in the right infratemporal and pterygomaxillary fossa. He referred hyporexia, weight loss and right trigeminal neuralgia. On physical examination, he had trismus and diplopia. On neuroimaging, the tumour invaded the central nervous system affecting the right temporal lobe and orbit, and the sellar region. Tumour biopsy revealed foamy histiocytes and isolated giant multinuclear cells immunoreactive to CD68 and negative to CD1a and S100. A diagnosis of Erdheim-Chester disease was made. Non-evidence of large bone involvement was found in neither plain radiographs nor Technetium 99 m bone scintigraphy. BRAFV600E mutation analysis was negative. Because of raised intracranial pressure, a debulking surgery of the intracranial histiocytic process was performed. The patient improved his symptoms and remains clinically stable after 12 months of treatment with pegylated interferon-α-2a 180 µg/weekly. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  17. Discovery of Erdheim-Chester disease by PET / CT in 18-F.D.G. with the waning of a prolonged inflammatory syndrome; Decouverte d'une maladie d'Erdheim-Chester par la TEP-TDM au 18-FDG au decours d'un syndrome inflammatoire biologique prolonge

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    Chalaye, J.; Carrier, P.; Viau, P.; Razzouk, M.; Darcourt, J. [CHU-CAL, Service universitaire de medecine nucleaire, 06 - Nice (France)

    2010-07-01

    Purpose: to report a case of Erdheim-Chester disease, a rare non-Langerhans histiocytosis with bone and visceral involvement, of which diagnosis was made using PET-CT with {sup 18}-F.D.G.. PET / CT with {sup 18}F.D.G. revealed and to do the staging of Erdheim-Chester disease, objectifying particularly vascular damage that may condition the prognosis. (N.C.)

  18. Cytomorphology of Erdheim-Chester disease presenting as a retroperitoneal soft tissue lesion

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    Bibianna Purgina

    2011-01-01

    Full Text Available Erdheim-Chester disease (ECD is a rare, multisystem disorder of macrophages. Patients manifest with histiocytic infiltrates that lead to xanthogranulomatous lesions in multiple organ systems. The cytologic features of this disorder are not well characterized. As a result, the cytologic diagnosis of ECD can be very challenging. The aim of this report is to describe the cytomorphology of ECD in a patient presenting with a retroperitoneal soft tissue lesion. A 54-year-old woman with proptosis and diabetes insipidus was found on imaging studies to have multiple intracranial lesions, sclerosis of both femurs and a retroperitoneal soft tissue mass. Fine needle aspiration (FNA and a concomitant core biopsy of this abnormal retroperitoneal soft tissue revealed foamy, epithelioid and multinucleated histiocytes associated with fibrosis. The histiocytes were immunoreactive for CD68, CD163, Factor XIIIa and fascin, and negative for S100, confirming the diagnosis of ECD. ECD requires a morphologic diagnosis that fits with the appropriate clinical context. This case describes the cytomorphologic features of ECD and highlights the role of cytology in helping reach a diagnosis of this rare disorder.

  19. Erdheim-Chester Disease presenting with histiocytic colitis and cytokine storm.

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    Christophi, George P; Sharma, Yeshika; Farhan, Quader; Jain, Umang; Walker, Ted; Sayuk, Gregory S; Rubin, Deborah C

    2017-06-01

    Non-Langerhans histiocytosis is a group of inflammatory lymphoproliferative disorders originating from non-clonal expansion of hematopoietic stem cells into cytokine-secreting dendritic cells or macrophages. Erdheim-Chester Disease (ECD) is a rare type of non-Langerhans cell histiocytosis characterized by tissue inflammation and injury caused by macrophage infiltration and histologic findings of foamy histiocytes. Often ECD involves the skeleton, retroperitoneum and the orbits. This is the first report documenting ECD manifesting as segmental colitis and causing cytokine-release syndrome. A 68-year old woman presented with persistent fever without infectious etiology and hematochezia. Endoscopy showed segmental colitis and pathology revealed infiltration of large foamy histiocytes CD3-/CD20-/CD68+/CD163+/S100- consistent with ECD. The patient was empirically treated with steroids but continued to have fever and developed progressive distributive shock. This case report describes the differential diagnosis of infectious and immune-mediated inflammatory and rheumatologic segmental colitis. Non-Langerhans histiocytosis and ECD are rare causes of gastrointestinal inflammation. Prompt diagnosis is imperative for the appropriate treatment to prevent hemodynamic compromise due to distributive shock or gastrointestinal bleeding. Importantly, gastrointestinal ECD might exhibit poor response to steroid treatment and other potential treatments including chemotherapy, and biologic treatments targeting IL-1 and TNF-alpha signalling should be considered.

  20. Bone involvement in Erdheim-Chester disease: imaging findings including periostitis and partial epiphyseal involvement.

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    Dion, Elisabeth; Graef, Claire; Miquel, Anne; Haroche, Julien; Wechsler, Bertrand; Amoura, Zahir; Zeitoun, Delphine; Grenier, Philippe A; Piette, Jean-Claude; Laredo, Jean-Denis

    2006-02-01

    To retrospectively review the bone findings at radiography, scintigraphy, computed tomography (CT), and magnetic resonance (MR) imaging in 11 patients with immunohistochemical and histologic proof of Erdheim-Chester disease. This study was designed as a retrospective review; approval of the institutional review board and patient consent were not required for this type of study. Eleven patients (eight men and three women; mean age, 49 years; range, 17-68 years) with Erdheim-Chester disease underwent conventional radiography of the skeleton and bone scintigraphy. Two patients underwent CT of the femora and 10 underwent CT of the skull. Eight patients underwent MR imaging. Conventional radiographs, bone scintigrams, CT scans, and MR images were reviewed in consensus by four musculoskeletal radiologists. All 11 patients had involvement of the long bones and normal axial skeleton, hands, and feet. Bilateral and symmetric osteosclerosis of the diaphysis of the long bones was present in 52 (26 pairs) (98%) of the 53 bone lesions visible on conventional radiographs. Osteosclerosis was heterogeneous in 65% of the patients and homogeneous in 35%. Diaphysis was involved in 100% and metaphysis in 44 (83%) lesions. Partial epiphyseal involvement sparing the subchondral bone was present in 24 (45%) lesions. Periostitis was seen in 35 (66%) and endosteitis in 50 (94%) of the 53 long bones involved. Bone scintigraphy depicted tracer uptake in all bone lesions visible on radiographs. Skull and face bone lesions were present in two patients. MR imaging depicted a replacement of the normal fatty bone marrow by heterogeneous signal intensity on T1- and T2-weighted spin-echo images. Lesion extent, epiphyseal involvement, and periostitis were clearly depicted at MR imaging. This series provides a detailed description of bone involvement in Erdheim-Chester disease. Periostitis and partial epiphyseal involvement of the long bones are also features of this disease. (c) RSNA, 2005. (c) RSNA

  1. Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim-Chester disease.

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    Chiapparini, Luisa; Cavalli, Giulio; Langella, Tiziana; Venerando, Anna; De Luca, Giacomo; Raspante, Sergio; Marotta, Giorgio; Pollo, Bianca; Lauria, Giuseppe; Cangi, Maria Giulia; Gerevini, Simonetta; Botturi, Andrea; Pareyson, Davide; Dagna, Lorenzo; Salsano, Ettore

    2017-12-04

    Leukoencephalopathies with prominent involvement of cerebellum and brainstem, henceforward called prominent infratentorial leukoencephalopathies (PILs), encompass a variety of inherited and acquired white matter diseases. Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis likely under-diagnosed as cause of adult PIL. We reviewed the clinical and laboratory information of ten consecutive sporadic adult patients with PIL of unknown origin, who were investigated for ECD. There were seven males and three females; mean age at clinical onset was 49.6 years (range 38-59); cerebellar ataxia with or without other neurological symptoms was the only or the main clinical manifestation; diabetes insipidus was present in three individuals. Eight patients had white matter focal supratentorial abnormalities, in addition to the infratentorial white matter changes. Six out of eight patients had spinal cord lesions. Thoraco-abdominal CT showed periaortic sheathing in two patients, whole-body FDG-PET revealed increased glucose uptake in the long bones of the legs in five patients, brain FDG-PET showed overt infratentorial hypermetabolism in one patient. In eight patients, ECD was confirmed by bone scintigraphy, pathological data, or both. Two ECD patients treated with vemurafenib showed a marked improvement of neurological symptoms and brain MRI abnormalities at 1 year follow-up. Symptoms of PIL can be the only clinical manifestation of ECD. Adult patients with PIL of unknown origin should undergo investigations aimed at unveiling ECD, including bone scintigraphy and whole-body FDG-PET. The early diagnosis allows starting disease-modifying therapies of an otherwise life-threatening disease.

  2. Erdheim Chester disease–An unusual presentation of a rare histiocytic disease in a 3-year old boy

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    Muhammad Rahil Khan

    2017-10-01

    Full Text Available Erdheim Chester disease (ECD is a rare, multisystem non-Langerhans histiocytosis seen in adults characterized by a clinical triad of bone pains, bilateral painless exophthalmos and diabetes insipidus. Only 10 pediatric ECD cases are reported. We report here the youngest child in the literature, diagnosed at three years of age. He presented with osteolytic lesions in the skull, diabetes insipidus and bilateral proptosis. He was initially misdiagnosed and treated as Langerhan cell histiocytosis(LCH. In ECD, the typical radiological findings are symmetrical osteosclerosis of long bones. Osteolytic lesions are rare and if present are usually seen in the limbs. This is the first pediatric case with osteolytic lesions solely in the skull. A repeat biopsy confirmed ECD with the presence of foamy histiocytes in fibrous background positive for CD68 andCD163 and negative for CD1a and S100, typical histopathological features of ECD. The BRAFgene mutation was also detected. The patient responded well to interferon alpha therapy, which is now considered the first line treatment in ECD.

  3. BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease.

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    Janku, Filip; Vibat, Cecile Rose T; Kosco, Karena; Holley, Veronica R; Cabrilo, Goran; Meric-Bernstam, Funda; Stepanek, Vanda M; Lin, Patrick P; Leppin, Lorieta; Hassaine, Latifa; Poole, Jason C; Kurzrock, Razelle; Erlander, Mark G

    2014-06-15

    Erdheim-Chester disease (ECD) is a rare histiocytosis with a high prevalence of BRAF V600E mutation (>50% of patients). Patients with BRAF-mutant ECD can respond to BRAF inhibitors. Unfortunately, the lack of adequate archival tissue often precludes BRAF testing. We hypothesized that cell-free DNA (cfDNA) from plasma or urine can offer an alternative source of biologic material for testing. We tested for BRAF V600E mutation in cfDNA from the plasma and urine of 6 ECD patients. In patients with available archival tissue, the result of BRAF mutation analysis was concordant with plasma and urine cfDNA results in all 3 patients (100% agreement, kappa 1.00). In all 6 patients, BRAF mutation analysis of plasma and urine cfDNA was concordant in 5 of 6 patients (83% agreement, kappa 0.67). Testing for BRAF V600E mutation in plasma and urine cfDNA should be further investigated as an alternative to archival tissue mutation analysis.

  4. CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients.

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    Arnaud, Laurent; Hervier, Baptiste; Néel, Antoine; Hamidou, Mohamed A; Kahn, Jean-Emmanuel; Wechsler, Bertrand; Pérez-Pastor, Gemma; Blomberg, Bjørn; Fuzibet, Jean-Gabriel; Dubourguet, François; Marinho, António; Magnette, Catherine; Noel, Violaine; Pavic, Michel; Casper, Jochen; Beucher, Anne-Bérangère; Costedoat-Chalumeau, Nathalie; Aaron, Laurent; Salvatierra, Juan; Graux, Carlos; Cacoub, Patrice; Delcey, Véronique; Dechant, Claudia; Bindi, Pascal; Herbaut, Christiane; Graziani, Giorgio; Amoura, Zahir; Haroche, Julien

    2011-03-10

    Erdheim-Chester disease (ECD) is a rare form of non-Langerhans histiocytosis, with noncodified therapeutic management and high mortality. No treatment has yet been shown to improve survival in these patients. We conducted a multicenter prospective observational cohort study to assess whether extraskeletal manifestations and interferon-α treatment would influence survival in a large cohort of ECD patients. To achieve this goal, we thoroughly analyzed the clinical presentation of 53 patients with biopsy-proven ECD, and we performed a survival analysis using Cox proportional hazard model. Fifty-three patients (39 men and 14 women) with biopsy-proven ECD were followed up between November 1981 and November 2010. Forty-six patients (87%) received interferon-α and/or PEGylated interferon-α. Multivariate survival analysis using Cox proportional hazard model revealed that central nervous system involvement was an independent predictor of death (hazard ratio = 2.51; 95% confidence interval, 1.28-5.52; P = .006) in our cohort. Conversely, treatment with interferon-α was identified as an independent predictor of survival (hazard ratio = 0.32; 95% confidence interval, 0.14-0.70; P = .006). Although definitive confirmation would require a randomized controlled trial, these results suggest that interferon-α improves survival in ECD patients. This may be seen as a significant advance, as it is the first time a treatment is shown to improve survival in this multisystemic disease with high mortality.

  5. Genetics Home Reference: Erdheim-Chester disease

    Science.gov (United States)

    ... Diagnostic Criteria (1 link) Diamond EL, Dagna L, Hyman DM, Cavalli G, Janku F, Estrada-Veras J, ... Management Guidelines (1 link) Diamond EL, Dagna L, Hyman DM, Cavalli G, Janku F, Estrada-Veras J, ...

  6. Síndrome coronario agudo y enfermedad de Erdheim-Chester. Patogénesis e implicaciones terapéuticas

    Directory of Open Access Journals (Sweden)

    José Carlos Alarcón-García

    2017-05-01

    Full Text Available La enfermedad de Erdheim-Chester es una histiocitosis celular diferente a la histiocitosis de Langerhans, de origen incierto. Se caracteriza por una implicación multi-orgánica debida a la infiltración de los histiocitos CD68+/CD1a-, en forma de xantogranulomas, que afectan principal y comúnmente a la metáfisis y diáfisis de huesos largos. El diagnóstico se realiza mediante biopsia, donde se revelan histiocitos CD68+/CD1a-, carencia de proteína S, y presencia de gránulos de Birbeck. Se ha subestimado la implicación cardiovascular. Reportamos un caso de un varón de 67 años con la enfermedad de Erdheim-Chester e infarto de miocardio agudo, debido a implicación coronaria, además de enfermedad ósea, vascular, pituitaria y retroperitoneal. Revisamos la literatura relevante y describimos el tratamiento clínico de estos pacientes.

  7. Ribbing disease

    Directory of Open Access Journals (Sweden)

    Mukkada Philson

    2010-01-01

    Full Text Available Ribbing disease is a rare sclerosing dysplasia that involves long tubular bones, especially the tibia and femur. It occurs after puberty and is reported to be more common in women. In this article we describe how Ribbing disease can be differentiated from diseases like Engelmann-Camurati disease, van Buchem disease, Erdheim-Chester disease, osteoid osteoma, chronic osteomyelitis, stress fracture, etc.

  8. Pictorial essay: Uncommon causes of coronary artery encasement.

    Science.gov (United States)

    Yong, Yan Rong; Lath, Narayan; Cheah, Foong Koon; Ng, Yuen Li

    2016-01-01

    This pictorial essay presents cases of non-atherosclerotic coronary artery encasement which were encountered in our institution, including malignant lymphoma, Erdheim-Chester disease, immunoglobulin G4 (IgG4)-related disease and Polyarteritis Nodosa. These conditions usually have multisystemic involvement which aid in the diagnosis. Awareness of these uncommon disorders and their ancillary findings can facilitate early, accurate diagnosis and appropriate management. Copyright © 2016 Society of Cardiovascular Computed Tomography. Published by Elsevier Inc. All rights reserved.

  9. Imaging Manifestations of Hematologic Diseases with Renal and Perinephric Involvement.

    Science.gov (United States)

    Purysko, Andrei S; Westphalen, Antonio C; Remer, Erick M; Coppa, Christopher P; Leão Filho, Hilton M; Herts, Brian R

    2016-01-01

    The kidneys and perinephric tissues can be affected by a variety of hematologic disorders, which usually occur in the setting of multisystem involvement. In many of these disorders, imaging is used to evaluate the extent of disease, guide biopsy, and/or monitor disease activity and patient response to therapy. Lymphoma, leukemia, and multiple myeloma commonly manifest as multiple parenchymal or perinephric lesions. Erdheim-Chester disease and Rosai-Dorfman disease, rare forms of multisystemic histiocytosis, are often identified as perinephric and periureteral masses. Renal abnormalities depicted at imaging in patients with sickle cell disease include renal enlargement, papillary necrosis, and renal medullary carcinoma. Sickle cell disease, along with other causes of intravascular hemolysis, can also lead to hemosiderosis of the renal cortex. Thrombosis of renal veins is sometimes seen in patients with coagulation disorders but more often occurs in association with certain malignancies and nephrotic syndrome. Immunoglobulin G4-related sclerosing disease is another multisystem process that often produces focal renal lesions, seen along with involvement of more characteristic organs such as the pancreas. Perinephric lesions with calcifications should raise the possibility of secondary amyloidosis, especially in patients with a history of lymphoma and multiple myeloma. Although the imaging patterns of renal and perinephric involvement are usually not specific for a single entity, and the same entity can manifest with different or overlapping patterns, familiarity with these patterns and key clinical and histopathologic features may help to narrow the differential diagnosis and determine the next step of care. (©)RSNA, 2016.

  10. Wilson Disease: Case Report

    Directory of Open Access Journals (Sweden)

    Esra Tuğ

    2007-01-01

    Full Text Available Wilson Disease (WD is an autosomal recessive hereditary disease of human copper metabolism, which causes hepatic and neuropsychiatric diseases. Estimated prevalence is 1: 30.000. In WD, ATP7B gene located on chromosome 13 (13q14.3-q21.1, coding the protein for hepatic copper transport and, having an important role in copper metabolism has been affected. Clinical findings in WD are complex and, neurological symptoms such as tremor, disartria and psychiatric disorders, acute liver deficiency, chronic hepatit or cirrhosis may develop. For the last year, 27 years old female patient observed in other medical centre owing to benign positional vertigo applied to our department. Her sister and brother have been diagnosed as WD. No peripheral syptoms of hepatic disease or hepatosplenomegaly existed in our patient. Neurological examination was normal to except for positional tremor. Because our patient had rare clinical features for WD and bad prognosis, presented by us to emphasize necessity of the researched of the most frequent mutations seen in Turkiye.

  11. [A case of celiac disease].

    Science.gov (United States)

    Gweon, Tae-Geun; Lim, Chul-Hyun; Byeon, Seoug-Wook; Baeg, Myong-Ki; Lee, Jong-Yul; Moon, Sung-Jin; Kim, Jin-Su; Choi, Myung-Gyu

    2013-06-01

    Celiac disease is a chronic absorptive disorder of the small intestine caused by gluten. The prevalence rate of celiac disease is 1% in Western countries. But, it is rare in Asian countries, and there is no celiac disease reported in Korea. Here, we report a case of celiac disease. An 36-years-old woman complained non-specific abdominal pain and diarrhea. She had anemia and was taking medication for osteoporosis. Colonoscopy showed no abnormality except shallow ulcer at the terminal ileum. Gastroduodenoscopy showed micronodularity at the duodenum 2nd and 3rd portion. Capsule endoscopy and enteroscopy showed villous atrophy and blunting of villi from the duodenum. Small intestinal pathology showed villous atrophy with lymphocyte infiltration. After gluten free diet, diarrhea, abdominal pain, anemia and osteoporosis were improved. And, she felt well-being sensation. This is a first case of celiac disease in Korea.

  12. Mikulicz's disease. A case report.

    Science.gov (United States)

    Coloma-González, I; Ruíz-García, L; Flores-Preciado, J; Encampira-Luna, E O; Ceriotto, A; Salcedo-Casillas, G

    2014-08-01

    We report the case of a 48 year-old male with bilateral involvement of the salivary and lacrimal glands, which was diagnosed as Mikulicz's disease by incisional biopsy of the affected lacrimal glands, which was completely resolved after corticosteroid treatment. Sclerosing sialadenitis and/or dacryoadenitis are chronic inflammatory diseases that are currently classified into IgG4-related diseases. Specifically, Mikulicz's disease is defined by a persistent and symmetrical swelling of the lacrimal and salivary glands together with elevated serum concentration of IgG4 and tissue infiltration by IgG4 (+) plasma cells. Copyright © 2013 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

  13. CASE REPORT CASE CASE R Infantile Sandhoff's disease

    African Journals Online (AJOL)

    2009-08-17

    Aug 17, 2009 ... of the white matter results in eventual severe neuronal dysfunction and neurodegeneration. Disease progression is rapid, resulting in early death. Currently, there is no curative treatment, with therapy remaining primarily supportive. This case report is of a 13-month-old aboriginal Canadian boy who was ...

  14. Pompe disease: A case report

    Directory of Open Access Journals (Sweden)

    Abdullah Çim

    2015-12-01

    Full Text Available Pompe disease is inherited in an autosomal recessive manner, and is usually observed in the children of asymptomatic carriers. Pompe disease, known as Glycogen Storage Disorder type II, is caused by pathogenic mutations in the gene encoding lysosomal acid alpha-glucosidase (GAA. There are three types of Pompe disease: classical infantile form, non-classical infantile form and late-onset Pompe disease. Age of onset and severity of the disease determine the type of Pompe disease. We aimed to identify a mutation in GAA gene in parents who were first cousins and their baby girl was passed away due to the Pompe disease. The baby girl had reduced acid alpha-glucosidase activity, but genetic analysis had not been performed. Mutation analysis of parents was performed using high-throughput DNA sequencing method. Heterozygous mutation of c.896 T>C in exon 5 was found in parents, and prenatal diagnosis was performed for their next pregnancy. In conclusion, c.896 T>C substitution in GAA gene may lead to the severe type of Pompe disease. Using a relatively fast and reliable molecular genetic analysis method to confirm the early diagnosis of the Pompe disease is important for the management of the disease.

  15. Colonic tuberculosis mimicking Crohn's disease: case report

    Directory of Open Access Journals (Sweden)

    Roussomoustakaki Maria

    2002-05-01

    Full Text Available Abstract Background Intestinal tuberculosis is a rare disease in western countries, affecting mainly immigrants and immunocompromised patients. Intestinal tuberculosis is a diagnostic challenge, especially when active pulmonary infection is absent. It may mimic many other abdominal diseases. Case presentation Here, we report a case of isolated colonic tuberculosis where the initial diagnostic workup was suggestive of Crohn's disease. Computed tomography findings however, raised the possibility of colonic tuberculosis and the detection of acid-fast bacilli in biopsy specimens confirmed the diagnosis. Conclusions In conclusion, this case highlights the need for awareness of intestinal tuberculosis in the differential diagnosis of chronic intestinal disease

  16. Case management implications of celiac disease.

    Science.gov (United States)

    Greenberg, Liza

    2008-01-01

    The purpose of this article is to educate case managers on an autoimmune disorder, celiac disease, that is seen with increased frequency due to recent improvements in diagnostic testing. After reading this article, case managers will Outpatient case management, although patients with celiac disease may be encountered in any setting. Celiac disease is a genetic autoimmune disease affecting up to 1% of the population. The majority of people with celiac disease do not know they have it. With new diagnostic tests available on the marketplace, increasing numbers of people are being diagnosed with celiac disease. Case managers are likely to encounter patients with celiac disease as either a primary or secondary diagnosis. Celiac disease may cause gastrointestinal symptoms such as gas, diarrhea, or bloating, and is also associated with osteoporosis, other autoimmune disorders, and certain types of cancer. For children, it is a common disorder underlying growth delays. Celiac disease is present in 3%-8% of persons with diabetes and may affect glycemic control in these patients. The only known treatment of celiac disease is a lifelong gluten-free diet. The increased number of individuals diagnosed with celiac disease has led to an increase in products available, as well as in research on treatment alternatives. People with celiac disease report challenges in adhering to the gluten-free diet. Case managers can assist patients in accessing appropriate therapy, including nutrition counseling and monitoring services. They may also advocate for testing of patients in high-risk groups such as persons with diabetes, and those with unexplained gastrointestinal symptoms. In working with celiac patients, case managers should address psychosocial issues as well as knowledge deficits. Patients may need particular support integrating the gluten-free diet with other requirements, including heart healthy or diabetic diets. Case managers can help patients identify reliable sources of

  17. Canavan Disease: Three case report

    Directory of Open Access Journals (Sweden)

    Faruk Incecik

    2013-06-01

    Full Text Available Canavan disease, is an autosomal recessive disorder caused by decreased function of the enzyme aspartoacylase. The clinical symptoms include macrocephaly, hypotonia, developmental delay, seizures, optic atrophy and dystonia. We reported three patients with psychomotor developmental delay, hypotonia and macrocephaly, who was diagnosed as Canavan disease after the investigations. [Cukurova Med J 2013; 38(3.000: 495-498

  18. Reported cases of selected diseases.

    Science.gov (United States)

    1994-06-01

    The number of reported cases of measles, poliomyelitis, tetanus, diphtheria, and whooping cough for the period of January 1, 1994 to the date of the last report is presented in tabular form by country with a comparison for the same epidemiological period in 1993. The countries included are Bolivia, Colombia, Ecuador, Peru, Venezuela, Argentina, Chile, Paraguay, Uruguay, Brazil, Belize, Costa Rica, El Salvador, Guatemala, Honduras, Nicaragua, Panama, Mexico, Cuba, Haiti, the Dominican Republic, Antigua and Barbuda, the Bahamas, Barbados, Dominica, Grenada, Guyana, Jamaica, Saint Kitts and Nevis, Saint Vincent, Saint Lucia, Suriname, Trinidad and Tobago, Canada, and the US. The figures for measles are given as reported and as confirmed. In some countries, the reported number of cases of measles decreased from 1993 figures (Venezuela 5275 vs. 6060, Paraguay 26 vs. 958, Brazil 272 vs. 958, Canada 30 vs. 38), but, in others, the figure increased from 1993 (Mexico 47 vs. 21, the US 155 vs. 86). There were no reported cases of poliomyelitis for either year in any country. The figures for tetanus are divided into nonneonatal and neonatal. In Brazil the number of nonneonatal cases decreased to 360 from 371 in 1993, and the number of neonatal cases decreased to 28 from 65. In Mexico, nonneonatal cases decreased to 28 from 45, but neonatal cases increased to 23 from 20 in 1993. The number of cases of diphtheria cases in Brazil decreased to 28 from 65 in the same period of 1993. The number of cases of whooping cough decreased to 431 from 1651 in Brazil and to 51 from 70 in Mexico. However, the number of cases in Canada increased to 1047 from 784.

  19. Caroli's Disease: A case report

    Directory of Open Access Journals (Sweden)

    BN Patowary

    2013-09-01

    Full Text Available Caroli's disease (CD is a rare congenital abnormality characterized by dilatation of intra-hepatic bile ducts, recurrent cholangitis, formation of calculi inside these ducts with normal extra hepatic ducts and higher risk for cholangiocarcinoma. Association of this disease with congenital hepatic fibrosis is named as Caroli's syndrome. We reported 30 years old women with recurrent epigastric pain for 2 years with normal Liver function Test however involving both lobes of liver who developed cholangiocarcinoma approximately 6 months later. Journal of College of Medical Sciences-Nepal, 2012, Vol-8, No-3, 51-54 DOI: http://dx.doi.org/10.3126/jcmsn.v8i3.8685

  20. Case for diagnosis. Metastatic Crohn's disease.

    Science.gov (United States)

    Gontijo, João Renato Vianna; Leidenz, Franciele Antonieta Bianchi; Sousa, Maria Silvia Laborne Alves de

    2016-01-01

    Metastatic Crohn's disease is a rare skin manifestation, defined by granulomatous skin lesions that are discontinuous to the affected gastrointestinal tract and histopathologically resembling inflammatory bowel lesions. Up to 44% of patients with Crohn's disease have cutaneous manifestations, of which metastatic lesions are the least common. We present a case of an adolescent with refractory Crohn's disease and persistent papules and plaques on the skin.

  1. Case for diagnosis. Metastatic Crohn's disease

    OpenAIRE

    Gontijo, João Renato Vianna; Leidenz, Franciele Antonieta Bianchi; Sousa,Maria Silvia Laborne Alves de

    2016-01-01

    Abstract: Metastatic Crohn's disease is a rare skin manifestation, defined by granulomatous skin lesions that are discontinuous to the affected gastrointestinal tract and histopathologically resembling inflammatory bowel lesions. Up to 44% of patients with Crohn's disease have cutaneous manifestations, of which metastatic lesions are the least common. We present a case of an adolescent with refractory Crohn's disease and persistent papules and plaques on the skin.

  2. Case for diagnosis. Metastatic Crohn's disease*

    Science.gov (United States)

    Gontijo, João Renato Vianna; Leidenz, Franciele Antonieta Bianchi; de Sousa, Maria Silvia Laborne Alves

    2016-01-01

    Metastatic Crohn's disease is a rare skin manifestation, defined by granulomatous skin lesions that are discontinuous to the affected gastrointestinal tract and histopathologically resembling inflammatory bowel lesions. Up to 44% of patients with Crohn's disease have cutaneous manifestations, of which metastatic lesions are the least common. We present a case of an adolescent with refractory Crohn's disease and persistent papules and plaques on the skin. PMID:27579756

  3. WILSON'S DISEASE (A report of two cases).

    Science.gov (United States)

    Kanitkar, M; JOSHi, S N; Roy, N Dutta

    1994-01-01

    Two cases of Wilson's disease are reported. First case presented with fulminant hepatic failure and had a fatal outcome. The second had an insiduous onset, neurological manifestations, and is progressing satisfactorily on zinc therapy. Problems in diagnosis and treatment are highlighted.

  4. Comedonal Darier's disease: A case report

    Directory of Open Access Journals (Sweden)

    Ömer Faruk Elmas

    2014-12-01

    Full Text Available Darier's disease is an inherited dermatosis of hair follicles characterized by hyperkeratotic papules. The trunk and scalp are usually affected. Comedonal Darier's disease is a rare subtype of Darier's disease. Comedonal lesions are seen beside the typical signs. Our case was a 59-yearold woman presented with hyperkeratotic papules and comedonal lesions on her bilateral axillary area and trunk, and below the breasts. Focal parakeratosis, acantholytic dyskeratotic cells in these focuses, basophilic nuclear dusts, clefts, edema and perivascular nonspecific mononuclear cells infiltrations in dermis were found in histopathological investigations. We decided to report this case because comedonal Darier is a rare form of Darier's disease and there are only few reported cases in the literature.

  5. FARBER DISEASEDISEASE DESCRIPTION WITH CASE REPORTS

    Directory of Open Access Journals (Sweden)

    I. A. Chikova

    2014-01-01

    Full Text Available Farber disease (lipogranulomatosis, OMIM 228000 — is extremely rare autosomal-recessive disorder from group of lysosomal storage disorders, due to deficiency of acid ceramidase activity enzyme. Farber disease has a lot of clinical masques and resembles to different inflammatory disorders, such as juvenile arthritis, chronic urticaria, larynx papillomatosis and others. Most effective therapeutic method is bone marrow transplantation, which leads to minimization of disabling and improve quality of life. Currently a medication for enzyme replacement therapy of Farber disease is produced and it is under the clinical trials. We describe clinical course of two patients with different types of Farber disease. First case — 10 years old boy with II–III type of disease, and second — with fatal outcome in the age of 4 years 3 months of boy with I (classical type of Farber disease.

  6. CASE REPORT CASE CASE R Infantile Sandhoff's disease

    African Journals Online (AJOL)

    2009-08-17

    Aug 17, 2009 ... Sandhoff's disease is a rare autosomal recessive disorder of sphin- golipid metabolism that results from ... Department of Medical Imaging, Royal University Hospital, Saskatoon,. Saskatchewan, Canada. E Lemire ... cerebral atrophy is yet to be elucidated.15 Animal models have sug-. 67. SA JOURNAL OF ...

  7. [Kawasaki disease: report of 6 cases].

    Science.gov (United States)

    Scarpellini Vera, A; Borque, C; García Sicilia, J; Barrionuevo, J L; Sebastián, M; Hortelano, J G

    1984-06-01

    Six cases of children between 20 months and 6 years old, who suffer Kawasaki disease are presented. All of them had diagnostic parameters required by the Investigation Committee of this disease, with similar clinical symptoms as in other countries but with an upper average age (3 years old) to Japanese patients and nearer to that of the North American patients. It is important to emphasize the appearance of exanthema in one case, as well as a multiforme erythema exudative, a rare fact, and the observation, up to now not shown, of a positive rheumatoid factor in another two of the patients. All have undergone a good evolution without cardiovascular complications.

  8. Juvenile alexander disease: a case report.

    Science.gov (United States)

    Ozkaya, Halit; Akcan, Abdullah Baris; Aydemir, Gokhan; Kul, Mustafa; Aydinoz, Secil; Karademir, Ferhan; Suleymanoglu, Selami

    2012-04-01

    Alexander disease is a rare autosomal recessive disorder that is characterized by degeneration of the white matter in the central nervous system. Alexander disease is a leukodystrophy that is usually observed in early childhood but rarely in adults. It is characterized by megalencephaly, demyelinization and multiple Rosenthal fibers. Specific magnetic resonance imaging (MRI) findings and genetic investigations are necessary to diagnose the disorder. Signs of leukodystrophy were found in the bilateral white matter on a brain MRI of our four-year-old patient. He had megalencephaly since birth. We use this case to discuss Alexander disease.

  9. Case series of Stargardt's disease: Our experience

    Directory of Open Access Journals (Sweden)

    Syed Abdul Wadud

    2016-08-01

    Full Text Available Stargardt disease is the most common form of juvenile macular degeneration. Clinically, it is characterized by pisciform flecks at lhe level of the retinal pigment epithelium and a bull's-eye maculopathy. Inheritance is usually autosomal recessive, although dominantly inherited case have been described. Both sexes are affected equally. We reported here three cases of Stargardt's macular dystrophy, who are siblings and daughters of non consanguineous parents. In case-1,2 and 3 we found the typical presentation with almost same findings.

  10. [Asteroid hyalopathy (benson's disease): about a case].

    Science.gov (United States)

    Bienvenu, Yogolelo Asani; Angel, Musau Nkola; Leon, Kabamba Ngombe; Socrate, Kapalu Mwangala; Bruno, Iye Ombamba Kayimba; Gaby, Chenge Borasisi

    2017-01-01

    We here report a case of a 58 year-old diabetic male patient with asteroid hyalopathy, an affection rarely described in the literature. This study can help focus the attention of scientists on the pathologies of the vitreous disorders in diabetic patients as well as on other systemic diseases asteroid hyalopathy may be associated with.

  11. Brittle bone disease: a case report

    Directory of Open Access Journals (Sweden)

    Rodrigo Pace Lasmar

    2013-06-01

    Full Text Available We report a case of a female patient, 27 years old, with several episodes of fractures after low energy trauma and the first documented episode only to 18 years of age. Extensive research has not found the exact etiology of the disease. The orthopedic monitoring has targeted prevention and treatment of fractures.

  12. CASE STUDIES – HIV AND LUNG DISEASE

    African Journals Online (AJOL)

    2011-04-01

    Apr 1, 2011 ... CASE 1. A 45-year-old man with a history of previous tuberculosis. (TB) infection presented with a cough and chest pain. Sputum results and blood cultures were negative. The chest radiograph (CXR) demonstrated bilateral multifocal areas of patchy airspace disease, as well as a dominant focal area of ...

  13. An unusual case of Milroy disease

    African Journals Online (AJOL)

    There was no family history of this condition, and it can therefore be assumed that it is either a sporadic mutation phenomenon or a case of reduced penetrance in a parent. References. 1. Brice G, Mansour S, Ostergaard P, Connell F, Jeffrey S, Mortimer P. Milroy disease. Hereditary lymphedema, type I: Milroy congenital ...

  14. CASE STUDY – HIV AND LUNG DISEASE

    African Journals Online (AJOL)

    2011-04-02

    Apr 2, 2011 ... no other background disease predisposed him to these lung changes, and that smoking in conjunction with HIV infection acted synergistically to produce the changes. CASE REPORT. A 38-year-old man with a 3-day history of shortness of breath, productive cough and pleuritic chest pain presented.

  15. Dejerine-Sottas disease: a case report

    Directory of Open Access Journals (Sweden)

    Jaqueline Luvisotto Marinho

    Full Text Available CONTEXT: Hereditary peripheral neuropathies (hereditary motor-sensory neuropathies or hereditary demyelinating neuropathies are abnormalities of Schwann cells and their myelin sheaths, with peripheral nerve dysfunction. They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy. OBJECTIVE: The objective of the present work was to describe a case of Dejerine-Sottas disease. CASE REPORT: A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia. Electromyography disclosed significant reduction in motor and sensory nerve conduction velocities. Sural nerve biopsy showed axons surrounded by a thin myelin sheath and concentrically arranged cytoplasmic processes of Schwann cells forming onion-bulbs. No axon damage was observed.

  16. Thoracoabdominal actinomycosis mimicking metastatic disease: case report

    Energy Technology Data Exchange (ETDEWEB)

    Ros, L.H.; Villacampa, V.M. [Hospital Miguel Servet, Dept. of Radiology, Zaragoza (Spain); Torres, G.M. [Univ. of Florida, Dept. of Radiology, Gainesville, Florida (United States); Ros, P.R. [Harvard Medical School, Brigham and Women' s Hospital, Dept. of Radiology, Boston, Massachusetts (United States)

    1999-12-01

    Actinomycosis is a chronic suppurative infection with bacteria of the Actinomycetaceae family, characterized by the formation of abundant granular tissue and multiple abscesses. It is a rare entity, and clinical and radiological findings are similar to those in other inflammatory and in neoplastic processes. Actinomycosis should be considered in the differential diagnosis in high-risk patients with predisposing factors, such as alcoholism, poor oral hygiene, maxillofacial trauma, tuberculosis, chronic obstructive pulmonary disease, steroid ingestion or immunodeficiency, and in patients in whom the disease history does not correlate with widespread metastatic involvement. Early diagnosis is important, to prevent disease progression and unnecessary surgery, since the response to drug treatment is very good. We present a case of diffuse actinomycosis involving multiple organs (liver, kidneys, colon, and lungs) that simulated metastatic disease on radiography and computed tomography (CT). (author)

  17. [A case of monolobar Caroli's disease].

    Science.gov (United States)

    Makino, Isamu; Tani, Takashi; Shimizu, Koichi; Takamura, Hiroyuki; Fujimura, Takashi; Nishimura, Genichi; Kayahara, Masato; Ota, Tetsuo; Miwa, Koichi; Nonomura, Akitaka; Ueda, Kazuhiko

    2006-03-01

    The patient was a 45-year-old man, with no complaints. It was pointed out that he had a cystic lesion in the liver by abdominal ultrasonography at routine medical check-up. With close examinations, the tumor was multilocular cystic lesion in the right lobe of the liver, whose size was 35mm in diameter. We supposed it was a biliary cystadenoma (adenocarcinoma), echinococcosis, or degenerated hemangioma. And we performed partial hepatectomy. Finally, it was diagnosed as pure type monolobar Caroli's disease by pathological examination. This was a rare case of Caroli's disease which arose limitedly in monolobe. And we could curatively resect it by hepatectomy.

  18. [The Caroli's disease. Report of 16 cases].

    Science.gov (United States)

    Fteriche, Fadhel; Makni, Amine; Ksantini, Rachid; Rebai, Wael; Bedioui, Haikal; Nouira, Kaies; Daghfous, Amine; Ayadi, Sofiane; Chebbi, Faouzi; Jouini, Mohamed; Ammous, A; Montassar Kacem, Jameleddine; Ben Safta, Zouheir

    2012-01-01

    Caroli's disease is a congenital dilatation of the intrahepatic biliary duct. To analyse and discuss diagnostic and therapeutics difficulties through 16 patients with Caroli's disease. Between January 1990 and September 2010, 16 patients underwent surgical procedure for Caroli's disease. Data recorded for each patient included clinical symptoms, biologic findings, previous biliary procedures, and the presenting symptoms. The distribution of the biliary lesions, the surgical procedure and the postoperative outcomes and follow up were detailed. The mean age was 55 years. The mean interval between the first symptoms and diagnosis was 27 months. Five of 16 patients had undergone 12 surgical or endoscopic procedures prior to liver resection. Before the definitive diagnosis, 9 patients presented 15 episodes of acute cholangitis. The diagnosis was established preoperatively in 13 cases, 5 among them underwent previous biliary surgical procedures. The diagnosis was documented peroperatively in 2 cases and postoperatively in 1 case. The distribution of the biliary lesions was monolobar in 13 and bilobar in 3 patients. 13 patients underwent liver resection, in two cases we perfomed biliojejunostomy and the last one had endoscopic sphincterotomy. There was no mortality and the overall postoperative morbidity is about 43%. The follow-up shows that 12 patients still alive with a mean follow up for 53 months, from whom only one patient have intrahépepatic lithiasis. The clinical course of Caroli's disease is often complicated by recurrent episodes of angiocholitis and requires iterative surgery. The hepatectomy witch prevented septic complications and degenerescence is possible only in a restricted number of patients.

  19. Spectrum of Xanthogranulomatous Processes in the Abdomen and Pelvis: A Pictorial Review of Infectious, Inflammatory, and Proliferative Responses.

    Science.gov (United States)

    Bourm, Kelsey S; Menias, Christine O; Ali, Kamran; Alhalabi, Kinan; Elsayes, Khaled M

    2017-03-01

    Xanthogranulomatous (XG) processes are rare inflammatory conditions with the characteristic pathologic feature of lipid-laden macrophages or histiocyte cells. Imaging findings are nonspecific and can simulate aggressive neoplastic processes. XG processes can be caused by infection, inflammation, histolytic process, or an inherited lysosomal disorder. XG infectious processes are mainly seen in cholecystitis and pyelonephritis, but several other organs can also be involved. Histiocytic processes can be divided into Langerhans and non-Langerhans cell histiocytosis. The non-Langerhans cell histiocytosis entities include Erdheim-Chester disease, Rosai-Dorfman disease, juvenile xanthogranuloma, and hemophagocytic lymphohistiocytosis. The inherited lysosomal disorders resulting in XG processes include Nieman-Pick, Gaucher, and other lysosomal storage disorders. Radiologists need to be able to recognize features of xanthogranulomatous processes to help facilitate patient management.

  20. Case definition terminology for paratuberculosis (Johne's disease).

    Science.gov (United States)

    Whittington, R J; Begg, D J; de Silva, K; Purdie, A C; Dhand, N K; Plain, K M

    2017-11-09

    Paratuberculosis (Johne's disease) is an economically significant condition caused by Mycobacterium avium subsp. paratuberculosis. However, difficulties in diagnosis and classification of individual animals with the condition have hampered research and impeded efforts to halt its progressive spread in the global livestock industry. Descriptive terms applied to individual animals and herds such as exposed, infected, diseased, clinical, sub-clinical, infectious and resistant need to be defined so that they can be incorporated consistently into well-understood and reproducible case definitions. These allow for consistent classification of individuals in a population for the purposes of analysis based on accurate counts. The outputs might include the incidence of cases, frequency distributions of the number of cases by age class or more sophisticated analyses involving statistical comparisons of immune responses in vaccine development studies, or gene frequencies or expression data from cases and controls in genomic investigations. It is necessary to have agreed definitions in order to be able to make valid comparisons and meta-analyses of experiments conducted over time by a given researcher, in different laboratories, by different researchers, and in different countries. In this paper, terms are applied systematically in an hierarchical flow chart to enable classification of individual animals. We propose descriptive terms for different stages in the pathogenesis of paratuberculosis to enable their use in different types of studies and to enable an independent assessment of the extent to which accepted definitions for stages of disease have been applied consistently in any given study. This will assist in the general interpretation of data between studies, and will facilitate future meta-analyses.

  1. Kienböck disease, case report

    Directory of Open Access Journals (Sweden)

    Fanny Paola Ledezma-Martínez

    2013-09-01

    Full Text Available A case of Kienböck’s disease, defined as a rare clinical condition characterized by pain and limited movement of the radio-carpal joint restricting activities of daily living with impairment in social role and occupational. It is the physician who makes the diagnosis. When the patient is referred for functional rehabilitation, physiotherapist should perform the evaluation using the International Classification of Functioning, Disability and states of Health (ICF, in order to establish the more appropriate treatment plan to allow functionality of the hand.

  2. [Tuberculous rheumatism "Poncet's disease". Case report].

    Science.gov (United States)

    Lugo-Zamudio, Gustavo Esteban; Barbosa-Cobos, Rosa Elda; González-Ramírez, Laura Virginia; Delgado-Ochoa, Dolores

    2016-01-01

    Deaths due to tuberculosis have reached 2.5 million cases per year worldwide. Poncet's disease is an infrequent form of tuberculosis characterised by a clinical picture of polyarthritis. A 24-year-old male presented with morning stiffness, arthralgias, bilateral symmetric arthritis of the proximal interphalangeal joints, wrists, knees, ankles, and shoulders, and adenomegalies at the cervical, submandibular, left supraclavicular, axillary and inguinal levels, without fever. Laboratory results were as follows: ESR 44mm/h, C-reactive protein 4.35, normal levels of complement C3 and C4, negative rheumatoid factor and anticyclic citrullinated peptide antibodies, positive antinuclear antibodies with fine speckled pattern (1:320) and cytoplasm (1:160) pattern and negative anti-Smith, -double-stranded DNA, Sjogren's syndrome-antigen A and Sjogren's syndrome-antigen B. Histological report of cervical node tissue revealed granulomatous lesions compatible with tuberculosis. Rheumatoid arthritis and systemic lupus erythematosus were ruled out. Anti-tuberculosis agents were initiated that resolved the clinical picture. Diagnosis of Poncet's disease was confirmed. The differential diagnosis between tuberculosis and autoimmune inflammatory joint diseases is a clinical challenge. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.

  3. A Lyme Disease Case Study and Individualized Healthcare Plan

    Science.gov (United States)

    Cavendish, Roberta

    2003-01-01

    The Atlantic and Pacific coasts are the boundaries of Lyme disease with the Northeastern and Midwestern regions of the United States continuing to report the majority of cases. New reported cases of Lyme disease doubled from 1991 to 2001 according to statistics published by the Centers for Disease Control and Prevention (CDC, 2002). Within that…

  4. Huntington's disease: review and anesthetic case management.

    OpenAIRE

    Cangemi, C. F.; Miller, R. J.

    1998-01-01

    Huntington's disease is a dominantly inherited progressive autosomal disease that affects the basal ganglia. Symptoms appear later in life and manifest as progressive mental deterioration and involuntary choreiform movements. Patients with Huntington's disease develop a progressive but variable dementia. Dysphagia, the most significant related motor symptom, hinders nutrition intake and places the patient at risk for aspiration. The combination of involuntary choreoathetoid movements, depress...

  5. Camurati-Engelmann's disease: a case report | Kusaba Byanyima ...

    African Journals Online (AJOL)

    Camurati-Engelmann's disease: a case report. Rosemary Kusaba Byanyima, Jennifer Batuuka Nabawesi. Abstract. Camurati-Engelmann's disease is a rare condition worldwide. No cases have been documented in Uganda. A 26 year old female presented with a history of grinding pain in the limbs for over 20 years. Strong ...

  6. Kawasaki disease in Ghana: Case reports from Korle Bu Teaching ...

    African Journals Online (AJOL)

    Kawasaki disease, an acute febrile vasculitis, predominantly affects children under the age of 5 years and is thought to be a rare disease in the developing world. . It has previously never been reported in Ghana. We report 3 cases from February, 2007 to February, 2008. This potentially serious disease has no definitive ...

  7. Eye and rare genetic diseases: Case series and literature review ...

    African Journals Online (AJOL)

    Genetic diseases are generally characterised by a multi visceral pathogenesis. Although orphan, these diseases interest many disciplines due to their clinical expression. Eye is sometimes part of the clinical polymorphism of some rare genetic diseases. Ocular signs are in some cases leading to the diagnosis of these ...

  8. Kimura's disease: A case presentation of postauricular swelling ...

    African Journals Online (AJOL)

    Kimura's disease: A case presentation of postauricular swelling. A Rajesh, T Prasanth, V.C. Naga Sirisha, M.D.S. Azmi. Abstract. Kimura's disease (KD) is a rare chronic inflammatory disease of subcutaneous tissues and occurs predominantly in head and neck region. It is seen primarily in young Asian males. Typical clinical ...

  9. [DUCLOS LHERMITE DISEASE: REPORT OF ONE CASE AND LITERATURE REVIEW

    Science.gov (United States)

    Nicho, Héctor; Otoya, Guillermo; Torreblanca, Juan

    1999-01-01

    Lhermitte-Duclos disease (also known as dysplastic gangliocytoma of the cerebellum) is an unusual disorder, is now known to occur in young patients as a manifestation of Cowden disease. We report the case of a young male, 31 years old, with this unusual disease who was sugically treated for the neurologic neoplasia. And submitted to colonoscopic polypectomy for the hamartomatous colonic polyps.

  10. [Student abuse and Graves-basedow's disease: about a case].

    Science.gov (United States)

    Ntyonga-Pono, Marie-Pierrette; Nsame, Daniela

    2017-01-01

    Graves-basedow's disease is an autoimmune thyreopathy which represents the most common cause of hyperthyroidism in both adults and children. This disease would be related to a genetic predisposition influenced by environmental triggers, including stress. This study aims to present a case of Graves' disease in children whose unusual trigger would be student abuse, a broad challenge with multiple implications.

  11. A case of incomplete and refractory Kawasaki disease : diagnostic ...

    African Journals Online (AJOL)

    disease.[4,5] Not all cases ful l all the diagnostic criteria, and these are termed incomplete KD.[6,7] We report a case of incomplete KD that was refractory to the recommended standard treatment with intravenous immunoglobulin (IVIG), but responded to treatment with intravenous methylprednisolone. e case highlights the.

  12. Spinal cord disease in children with malignancies: Clinical cases ...

    African Journals Online (AJOL)

    Corresponding author: K Rautenbach (RautenbachK.MD@ufs.ac.za). Spinal cord disease in children with malignancies: Clinical cases and literature review. Case presentations. Case 1. A 32-month-old boy presented to a remote primary health care clinic with a 20-month history of progressive lower limb dysfunction. He.

  13. [Venous thromboembolic disease: presentation of a case].

    Science.gov (United States)

    Mirpuri-Mirpuri, P G; Álvarez-Cordovés, M M; Pérez-Monje, A

    2013-01-01

    Venous thromboembolic disease in its clinical spectrum includes both deep vein thrombosis and pulmonary thromboembolism, which is usually a complication of deep vein thrombosis. It is a relatively common disease with significant morbidity and requires an accurate diagnosis. They are numerous risk factors for venous thromboembolism, and there is evidence that the risk of thromboembolic disease increases proportionally to the number of predisposing risk factors present. The primary care physician should know the risk factors and suspect the presence of venous thromboembolic disease when there is a compatible clnical picture. The treatment for this pathology is anticoagulation. We report a patient with cardiovascular risk factors who was seen with pain in the right leg and shortness of breath and referred to the hospital with suspected venous thromboembolism, atrial fibrillation and pleural effusion. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  14. Fahr’s Disease: A Case Report

    Directory of Open Access Journals (Sweden)

    İlhan Kılınç

    2007-01-01

    Full Text Available Fahr’s disease is characterized with presence of calcifications in basal ganglions, dentate nucleus, and centrum semiovale. Common clinical findings of the disease are Parkinsonism, dystonia, chorea, ataxia, dementia, and mood disorders. We present a patient, in whom a diagnosis of Fahr disease established, with clinical and radiological findings. Neurological and physical exam of the 56 year-old female with complaints of memory loss and speech disorder for one year. Brain CT showed Fahr type calcification in the basal ganglion, thalamus, periventricular white matter, centrum semiovale, and cerebellum. Fahr’s disease must be present in differential diagnosis of patients with calcification in basal ganglion, thalamus, periventricular white matter, centrum semiovale, and cerebellum on CT or MRI that could not be explained otherwise.

  15. Perianal Paget's disease: presentation of six cases and literature review.

    Science.gov (United States)

    Minicozzi, Annamaria; Borzellino, Giuseppe; Momo, Rostand; Steccanella, Francesca; Pitoni, Federica; de Manzoni, Giovanni

    2010-01-01

    Extramammary Paget's disease (EMPD) is frequently associated with adnexal or visceral synchronous or metachronous malignancies. Our purpose was to evaluate, retrospectively, the results obtained in six cases of EMPD and to review the literature. Six patients with the perianal Paget's disease had been treated in our division between March 1996 and December 2006. In three cases, the disease was confined in the epidermis; in one case, there was a microinvasion of the dermis, while in another one the dermis was infiltrated. The last case was associated to a low rectal adenocarcinoma. All patients underwent wide perianal excision and reconstruction with skin graft. We performed a transanal resection of the rectal adenocarcinoma. A review of the literature from 1990 to 2008 revealed 193 cases of perianal EMPD, 112 were intraepithelial/intradermal while 81 were associated with malignancies. Anorectal adenocarcinoma was already existing in two cases, synchronous in 48, and subsequent to diagnosis in 11. In three cases, the disease recurred locally, but no patient developed metastatic spread. Five patients survived and are free of disease. The review of the literature allows a clear identification of the primitive EMPD and the form associated to anorectal adenocarcinoma and little information about cases associated with synchronous adnexal adenocarcinoma. The Paget's disease can relapse after radical surgery and has a capacity of metastatic spread. Up to now, no clear guidelines have been established for the diagnosis of EMPD. The association with synchronous or metachronous carcinomas imposes a long-term follow-up with frequent clinical, radiological, and endoscopical controls.

  16. Intraoral Morgellons disease or delusional parasitosis: a first case report.

    Science.gov (United States)

    Dovigi, Allan J

    2010-08-01

    Morgellons disease is a new emerging disease that is still controversial and believed to be, by some practitioners, as nothing more than delusional parasitosis. The Center for Disease Control has recently launched an epidemiological investigation into this disease due to the increased number of reports. A first case is reported of an oral lesion and symptoms consistent with Morgellons disease. The nature of the characteristic fibers associated with the intraoral lesion is investigated. Research has started at a number of institutions to elucidate the nature of this emerging disease.

  17. A case of Canavan disease with microcephaly.

    Science.gov (United States)

    Gowda, Vykuntaraju K; Bhat, Maya D; Srinivasan, Varun M; Prasad, Chandrajit; Benakappa, Asha; Faruq, Mohammed

    2016-09-01

    Canavan disease is an autosomal recessive disorder with spongy degeneration of white matter of the brain. It presents with developmental delay, visual problems and macrocephaly. We report a ten-month old boy with Canavan disease who presented with global developmental delay, seizures, abnormal eye movements and microcephaly. MRI brain revealed diffuse involvement of the supra tentorial white matter, globus pallidi, thalami, dentate nuclei and brainstem with sparing of the corpus callosum. The genetic testing revealed homozygous mutation of aspartoacylase gene [c.859 G>A (p.Ala287Thr)] in Exon 6. Possibility of Canavan disease should be considered even in the presence of microcephaly. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  18. Hypnosis in the treatment of Morgellons disease: a case study.

    Science.gov (United States)

    Gartner, Ashley M; Dolan, Sara L; Stanford, Matthew S; Elkins, Gary R

    2011-04-01

    Morgellons Disease is a condition involving painful skin lesions, fibrous growths protruding from the skin, and subcutaneous stinging and burning sensations, along with symptoms of anxiety, depression, fatigue, and memory and attention deficits. The etiological and physiological bases of these symptoms are unclear, making the diagnosis controversial and challenging to treat. There are currently no established treatments for Morgellons Disease. The following case example depicts treatment of a woman with Morgellons Disease using hypnotherapy. Data from this case example suggest that hypnotherapy is a promising intervention for the physical and psychological symptoms associated with Morgellons Disease.

  19. Graves Disease And Down Sindrome : Clinical Case

    Directory of Open Access Journals (Sweden)

    Scrinic Olesea

    2015-08-01

    Full Text Available Introduction: Pacients with Down’s syndrome present an increase revalence of autoimune endocrine disorders. We communicate the case of 14 years and 6 months old pacient known with Down syndrome admitted in Endocrinology department with suspicion of hyperthyroidism, the diagnosis being confirmed by hormonal dosage. The particularity of the case consists in: symptomatology onset during puberty, clinical evolution with mild symptoms, without ocular involvement, morphological and functional remission obtained relatively soon after the initiation of antithyroid therapy, lack of posttherapy side effects, favorabile evolution under the “block and replace” therapy

  20. AN INTERESTING CASE OF VALVULAR HEART DISEASE: A CASE REPORT

    OpenAIRE

    Anusuya; Saranya Devi

    2016-01-01

    A 24-year-old male presented with symptoms of acute onset altered sensorium and seizures. He was diagnosed with hypertensive encephalopathy and retinopathy. He was a candidate of double valve replacement surgery, which he underwent 3 years back. Further workup with renal artery Doppler revealed unilateral renal artery stenosis with extensive collateral circulation. Patient underwent a complete CT aortogram, which revealed large vessel vasculitis. We report this case as it is a rar...

  1. Retroperitoneal unicentric Castleman’s disease: A case report

    Directory of Open Access Journals (Sweden)

    Nihed Abdessayed

    2017-01-01

    Conclusion: Unicentric CD in the peripancreatic region is difficult to differentiate from pancreatic neoplasm preoperatively. However, preoperative biopsy in cases of high clinical suspicion can help in avoiding extensive surgery for this benign disease.

  2. Case-case comparisons to study causation of common infectious diseases.

    Science.gov (United States)

    McCarthy, N; Giesecke, J

    1999-08-01

    Analytical studies of reportable infectious diseases often use the small minority of cases detected through surveillance systems. For many diseases, notification of cases represents a non-random selection process. Apparent differences in exposure histories may be due to biases involved in the surveillance system selection of cases compared to randomly selected controls. In addition, differential recall between cases and controls may occur. One way to avoid these problems is to compare cases with another group of cases with a different disorder selected by a similar surveillance system, although this can introduce new biases. In infectious diseases cases with the same disease can be divided into aetiologically meaningful subgroups by subtyping the pathogen. Exposure history can then be compared between these subgroups. Several biases are removed. The control group composed of other cases does not represent the exposure history of the study base but differs from it in a predictable and useful way. People considered as controls will have a higher incidence of general predisposing factors than the general population. Analysis is limited to factors associated with exposure to the infecting agent. Case-case comparison is a development of case-control methodology made possible by laboratory typing techniques. These comparisons allow a more restricted but more refined analysis of the association of some exposures with infection. Determination of how exposure to the infectious agent occurred is more efficient and unbiased than in standard case-control studies but general factors determining whether disease occurs after an infectious exposure can not be studied.

  3. [Mondor's disease of penis: A case report].

    Science.gov (United States)

    Marsaudon, E; Legal, C; Gayoux, D; Weber, O

    2016-09-01

    Mondor's disease is a rare superficial thrombophlebitis, historically involving the thoracic venous system of women. However, it can occur in both gender and all over the skin. We report a 40-year-old man with type one diabetes who presented with a thrombosis of the superficial dorsal vein of the penis that he treated as a fungal infection. Treatment with non-steroidal anti-inflammatory drugs and low molecular weight heparin contributed to a favorable outcome in 2 weeks. Pathogenesis and treatment of Mondor's disease remain incompletely dominated. Some predisposing factors have been highlighted in the literature. It might be interesting to add diabetes, due to its frequent pelvic problems leading to a potential venous inflammatory trigger. Copyright © 2015 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  4. Canine Degenerative Valve Disease: A Case Report

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    Carmenza Janneth Benavides Melo

    2014-07-01

    Full Text Available Degenerative valvular disease or endocardiosis is the most common cardiovascular pathology in dogs. It is characterized by regurgitation of blood into the atria with decreased cardiac output, leading to volume overload with eccentric hypertrophy and congestive heart failure. This report describes the clinical and autopsy findings of a dog, suggestive of valvular endocardiosis. The patient was admitted to the outpatient Veterinary Clinic “Carlos Martínez Hoyos” at the University of Nariño (Pasto, Colombia. His owner said the dog was sick for two months, with signs of respiratory disease, weight loss, and decay. Clinical examination showed very pale mucous membranes, inspiratory dyspnea, rale, split S2, grade 4 mid-systolic murmur of regurgitation, and abdominal dilatation with sign of positive shock wave. Necropsy evidenced plenty of translucent watery material in the abdominal, chest and pericardium cavity, severely enlarged and rounded heart with thickened atrioventricular valves, moderate reduction in liver size and signs of lobulation, severely diminished and pale kidneys with irregular surface showing the presence of multiple cystic areas in corticomedullary region. Samples were taken from these tissues and fixed in 10% buffered formalin to be processed for histopathological analysis at the Laboratory of Pathology at the University of Nariño, using hematoxylin and eosin stain. This way, degenerative valvular disease was diagnosed.

  5. [Caroli's disease: literature review and characteristics of a clinical case].

    Science.gov (United States)

    Versaci, A; Macrí, A; Scuderi, G; Certo, A; Bottari, A; Pantè, S; Bonica, M; Familiari, L

    2005-05-01

    The Author's report the case of the simple form of Caroli's disease, a rare malformation, and review literature pointing out the difficulty of an early diagnosis, because disease can be silent for a long time too and it is identified for complication. Today, imaging, endoscopy and interventionist radiology are the most valid tools for a correct diagnosis and treatment, above all in a case of emergency, when other therapeutic solutions are not possible.

  6. Telehealth technology in case/disease management.

    Science.gov (United States)

    Park, Eun-Jun

    2006-01-01

    Case managers can better coordinate and facilitate chronic illness care by adopting telehealth technology. This article overviews four major categories of telehealth technology based on patients' roles in self-management: surveillance, testing peripherals and messaging, decision support aids, and online support groups related to patients' subordinate, structured, collaborative, and autonomous roles, respectively. These various telehealth technologies should be selected on the basis of patients' care needs and preferences. Moreover, when they are integrated with other clinical information systems, case management practice can be better performed. However, the specific role functions and skill sets needed to be competent in telehealth environments have not yet been clearly identified. Considering role ambiguity and stress among telehealth clinicians, clarifying relevant roles is an urgent task.

  7. Celiac Disease Presenting with Bone Pain: Two Case Reports

    Directory of Open Access Journals (Sweden)

    Nural Albayrak Aydın

    2011-04-01

    Full Text Available Celiac disease or gluten sensitive enteropathy is an autoimmune disease characterized by inflammation of the small-bowel mucosa. As can be asymptomatic, involvement of the hematologic, gastrointestinal system, musculosceletal system, nervous system or endocrine system may occur as well. The presence of osteoporosis in celiac disease, may be the only sign of patients who have not been diagnosed yet. The direct effect of celiac disease on bones happens secondary to decreased absorbsion of calcium and vitamin D. Here, two cases with celiac disease along with ongoing bone pain secondary to osteoporosis presented. (Turkish Journal of Osteoporosis 2011;17:24-5

  8. Multiple Symmetric Lipomatosis (Madelung's Disease: Report of Two Cases

    Directory of Open Access Journals (Sweden)

    Chung-Shin Wu

    2004-03-01

    Full Text Available Multiple symmetric lipomatosis (Madelung's disease is a rare disease characterized by non-encapsulated adipose deposits in the neck, the superior part of the trunk and, very rarely, in the limbs. It is common in middle-aged Caucasian Mediterranean males but very rare in Chinese people. We describe two cases of Madelung's disease: both patients presented complaining of a development of a painless neck mass that was increasing in size. Panendoscopy was normal. Both underwent incisional biopsies that revealed benign adipose tissue characterizing Madelung's disease. We discuss the clinical presentation, associated morbidity, and treatments for Madelung's disease.

  9. Human cases of Wesselsbron disease, South Africa 2010-2011.

    Science.gov (United States)

    Weyer, Jacqueline; Thomas, Juno; Leman, Patricia A; Grobbelaar, Antoinette A; Kemp, Alan; Paweska, Janusz T

    2013-05-01

    Wesselsbron disease is a neglected, mosquito-borne zoonotic infection reported from Africa. The disease primarily affects sheep and other ruminants with incidental spillover to humans. As for other arboviral diseases in Africa, little or no active surveillance is conducted, and the public and veterinary health burden of this disease remains unclear. We report on the clinical histories of 2 human cases of Wesselsbron disease that were laboratory confirmed during the 2010-2011 Rift Valley fever outbreak investigation in South Africa. This report describes the first confirmed human cases of Wesselsbron disease since 1996. Molecular sequencing and analysis of the partial NS5 gene of the Wesselsbron genome was used to identify 2 circulating clades of the virus in southern Africa. Clade I included isolates collected from South Africa and Zimbabwe, whereas clade II only included isolates from the KwaZulu Natal Province of South Africa.

  10. Addison’s Disease: A rare case report

    OpenAIRE

    Agrawal, Sanjay N; Yogeshree R. Deshmukh; Subodhkumar D. Jane; Rawal, Anuprita A.

    2015-01-01

    A female patient presented with progressive weakness, asthenia and generalized hyperpigmentation. The characteristic hyperpimentation pointed towards possibility of Addison’s disease which was proved by markedly decreased plasma cortisol levels, hyponatremia and hyperkalemia. This could be one of the very few cases of Addison’s Disease reported.

  11. Addison’s Disease: A rare case report

    Directory of Open Access Journals (Sweden)

    Sanjay N. Agrawal

    2015-04-01

    Full Text Available A female patient presented with progressive weakness, asthenia and generalized hyperpigmentation. The characteristic hyperpimentation pointed towards possibility of Addison’s disease which was proved by markedly decreased plasma cortisol levels, hyponatremia and hyperkalemia. This could be one of the very few cases of Addison’s Disease reported.

  12. Farmer's lung disease: Analysis of 75 cases.

    Science.gov (United States)

    Cano-Jiménez, Esteban; Rubal, David; Pérez de Llano, Luis A; Mengual, Noemí; Castro-Añón, Olalla; Méndez, Lidia; Golpe, Rafael; Sanjuán, Pilar; Martín, Irene; Veres, Alejandro

    2017-11-22

    Farmer's lung disease (FLD) is a common form of hypersensitivity pneumonitis possibly underdiagnosed in our midst. The aim of this study was to describe clinical characteristics, evolution and factors that influence the prognosis of patients with FLD. A retrospective study that included all patients diagnosed with FLD presenting an environmental exposure risk, a clinic, lung function and a compatible radiology, in which antigen sensitisation was demonstrated and/or a concordant pathology. We selected 75 patients with FLD, 50 with acute or subacute form (ASF) and 25 with chronic form (CF). Forty-four percent of patients (n=33) were diagnosed during the months of March and April, especially those with ASF compared to CF (52 vs. 28%; P=.0018). In the ASF group, DLco showed an improvement during follow-up (P=.047). The determination of specific IgG antibodies was positive in 39 patients (78%) with ASF (44% of them against Aspergillus) and CF 12 (48%). The realisation of antigenic avoidance (OR 9.26, 95% CI 1.3-66.7, P=.026) and the administration of immunosuppressive therapy (OR 16.13, 95% CI 1.26-200, P=.033) were predictors of better disease progression. FLD is predominantly seasonal in our environment. CF usually has a negative specific IgG antibodies unlike ASF, where antibodies against Aspergillus are the most common. The realisation of antigenic avoidance and immunosuppressive treatment are possible predictors of better disease progression. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  13. A case of incomplete and refractory Kawasaki disease: Diagnostic ...

    African Journals Online (AJOL)

    The diagnosis of incomplete Kawasaki disease (KD) – i.e. cases that do not full all the diagnostic criteria – requires a high index of suspicion. We report a case of incomplete KD that was refractory to treatment with intravenous immunoglobulin and subsequently responded to treatment with intravenous methylprednisolone.

  14. Hard metal lung disease: a case series.

    Science.gov (United States)

    Mizutani, Rafael Futoshi; Terra-Filho, Mário; Lima, Evelise; Freitas, Carolina Salim Gonçalves; Chate, Rodrigo Caruso; Kairalla, Ronaldo Adib; Carvalho-Oliveira, Regiani; Santos, Ubiratan Paula

    2016-01-01

    To describe diagnostic and treatment aspects of hard metal lung disease (HMLD) and to review the current literature on the topic. This was a retrospective study based on the medical records of patients treated at the Occupational Respiratory Diseases Clinic of the Instituto do Coração, in the city of São Paulo, Brazil, between 2010 and 2013. Of 320 patients treated during the study period, 5 (1.56%) were diagnosed with HMLD. All of those 5 patients were male (mean age, 42.0 ± 13.6 years; mean duration of exposure to hard metals, 11.4 ± 8.0 years). Occupational histories were taken, after which the patients underwent clinical evaluation, chest HRCT, pulmonary function tests, bronchoscopy, BAL, and lung biopsy. Restrictive lung disease was found in all subjects. The most common chest HRCT finding was ground glass opacities (in 80%). In 4 patients, BALF revealed multinucleated giant cells. In 3 patients, lung biopsy revealed giant cell interstitial pneumonia. One patient was diagnosed with desquamative interstitial pneumonia associated with cellular bronchiolitis, and another was diagnosed with a hypersensitivity pneumonitis pattern. All patients were withdrawn from exposure and treated with corticosteroid. Clinical improvement occurred in 2 patients, whereas the disease progressed in 3. Although HMLD is a rare entity, it should always be included in the differential diagnosis of respiratory dysfunction in workers with a high occupational risk of exposure to hard metal particles. A relevant history (clinical and occupational) accompanied by chest HRCT and BAL findings suggestive of the disease might be sufficient for the diagnosis. Descrever aspectos relacionados ao diagnóstico e tratamento de pacientes com doença pulmonar por metal duro (DPMD) e realizar uma revisão da literatura. Estudo retrospectivo dos prontuários médicos de pacientes atendidos no Serviço de Doenças Respiratórias Ocupacionais do Instituto do Coração, localizado na cidade de S

  15. Rare Submandibular Presentation of Pediatric Castleman Disease: Case Report.

    Science.gov (United States)

    Hamilton, Jodi; Mandel, Louis

    2017-04-01

    Castleman disease (CD), a benign lymphoproliferative disorder that affects lymph nodes, is uncommon in children, with only approximately 100 cases published. Although 23% of pediatric CD cases are found in the neck, there is no substantial reported percentage found in the salivary glands, especially the submandibular salivary gland (SMSG). A pediatric case of CD involving the SMSG is reported because of its extreme rarity. Copyright © 2016 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  16. A case of Kikuchi-Fujimoto disease with autoimmune thyroiditis.

    Science.gov (United States)

    Go, Eun Ji; Jung, You Jin; Han, Seung Beom; Suh, Byung Kyu; Kang, Jin Han

    2012-11-01

    Kikuchi-Fujimoto disease (KFD) is a benign self-limiting disease characterized by fever and lymphadenitis. The etiology and pathogenesis of KFD is unclear. However, two hypotheses have been suggested: a viral infection hypothesis and an autoimmune hypothesis. Several KFD patients with various types of autoimmune diseases have been reported, and these reports support the hypothesis for autoimmune pathogenesis of KFD. Here, we report the case of a 17-year-old female patient diagnosed with KFD and autoimmune thyroiditis. This case serves as additional evidence that the etiology of KFD is autoimmune origin.

  17. Graves' disease presenting as pseudotumor cerebri: a case report

    Directory of Open Access Journals (Sweden)

    Freitas Cláudia

    2011-02-01

    Full Text Available Abstract Introduction Pseudotumor cerebri is an entity characterized by elevated intracranial pressure with normal cerebrospinal fluid and no structural abnormalities detected on brain MRI scans. Common secondary causes include endocrine pathologies. Hyperthyroidism is very rarely associated and only three case reports have been published so far. Case presentation We report the case of a 31-year-old Luso-African woman with clinical symptoms and laboratory confirmation of Graves' disease that presented as pseudotumor cerebri. Conclusion This is a rare form of presentation of Graves' disease and a rare cause of pseudotumor cerebri. It should be remembered that hyperthyroidism is a potential cause of pseudotumor cerebri.

  18. A case of hypercalcemia associated with Castleman disease.

    Science.gov (United States)

    Washington, Terri; Vora, Avni; Mihailescu, Dan

    2010-01-01

    To present a case of hypercalcemia associated with Castleman disease. The details of case presentation, evaluation, diagnosis, and treatment are reviewed in a 25-year-old woman with severe hypercalcemia, joint pain, conjunctival injection, and lymphadenopathy. Endocrinopathies such as primary hyperparathyroidism were ruled out. Infectious and rheumatologic laboratory evaluations revealed normal results. On a whole-body scan, the patient was noted to have diffusely increased osseous uptake in conjunction with increased periarticular uptake, consistent with a metabolic superscan. After extensive evaluation, the patient underwent a right axillary lymph node biopsy and was found to have multicentric Castleman disease. She was treated with high-dose corticosteroids and eventually immunomodulators to help control her disease. To the best of our knowledge, this is the first published case report demonstrating hypercalcemia in association with Castleman disease. The pathologic mechanism is likely bone turnover mediated by cytokines such as interleukin-6.

  19. Segmental cystic disease of the kidney: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Han, Soo Bong; Chung, Sung Hwa; Cho, Jae Ho [College of Medicine, Yeungnam University, Daegu (Korea, Republic of)

    2008-06-15

    Segmental cystic disease of the kidney is a rare form of cystic disease of the kidney that manifests as variable sized, numerous cysts that are localized in a segment of one kidney. Morphologically and pathologically, it is indistinguishable from autosomal dominant polycystic kidney disease except for its unilateral localization, the lack of an autosomal dominant genetic background and the progressive deterioration of the renal function. We experienced a case of surgically confirmed segmental cystic disease of the kidney in a 49-year-old patient and we report on its ultrasonographic and CT findings, along with a brief review of the relevant literature.

  20. Lafora Disease and Congenital Generalized Lipodystrophy: A Case Report

    Directory of Open Access Journals (Sweden)

    Chih-Fan Tseng

    2009-12-01

    Full Text Available We report a patient with congenital generalized lipodystrophy who had suffered from seizures, myoclonus, ataxia and cognitive decline since late childhood. Lafora disease was diagnosed based on skin biopsy results, which revealed pathognomonic Lafora bodies. The results of genetic analysis for mutations in EPM2A and EPM2B genes were negative. This is the first case report describing an association between congenital generalized lipodystrophy and Lafora disease. Further studies focusing on the relationship between these two diseases and the identification of a third locus for Lafora disease are needed.

  1. Periodontal disease and anemias associated with Crohn's disease. A case report.

    Science.gov (United States)

    Nagpal, Swati; Acharya, Anirudh B; Thakur, Srinath L

    2012-03-01

    Crohn's disease (CD) is an inflammatory bowel disease with oral findings, including periodontal manifestations. Anemias, such as iron deficiency and anemia of chronic disease (ACD), are the most common hematologic complications of CD. Periodontitis has systemic effects, and may tend toward anemia, which can be explained by depressed erythropoiesis. In the report presented here, the authors review a case of Crohn's disease diagnosed 10 years previous to the patient presenting with a changing anemic profile and periodontal disease. A discussion of patient and disease management is included.

  2. [Primary cholangiocarcinoma in a case of Caroli's disease: case report and literature review].

    Science.gov (United States)

    Kasper, H-U; Stippel, D L; Töx, U; Drebber, U; Dienes, H P

    2006-07-01

    Caroli's disease is a liver disease with segmental cystic dilatation of the intrahepatic bile ducts. It belongs to the group of congenital ductal plate malformations. With an incidence of only 0.05% of all liver cases in the Liver Registry of the University of Cologne, it is a very rare disorder. Caroli's disease is usually combined with cholangitis and bile duct stones. Control of these infections and maintenance of biliary drainage are the main therapeutic aims. The development of intra epithelial neoplasia and invasive carcinoma are rare complications. We report a case of Caroli's disease with the development of cholangiocarcinoma and review the literature.

  3. Legionnaires’ Disease: Clinicoradiological Comparison of Sporadic Versus Outbreak Cases

    Directory of Open Access Journals (Sweden)

    Hafiz Rizwan Talib Hashmi

    2017-06-01

    Full Text Available Background: In 2015, New York City experienced the worst outbreak of Legionnaires’ disease in the history of the city. We compare patients seen during the 2015 outbreak with sporadic cases of Legionella during the past 5 years. Methods: We conducted a retrospective chart review of 90 patients with Legionnaires’ disease, including sporadic cases of Legionella infection admitted from 2010 to 2015 (n = 55 and cases admitted during the 2015 outbreak (n = 35. Results: We saw no significant differences between the 2 groups regarding demographics, smoking habits, alcohol intake, underlying medical disease, or residence type. Univariate and multivariate analyses showed that patients with sporadic case of Legionella had a longer stay in the hospital and intensive care unit as well as an increased stay in mechanical ventilation. Short-term mortality, discharge disposition, and most clinical parameters did not differ significantly between the 2 groups. Conclusions: We found no specific clinicoradiological characteristics that could differentiate sporadic from epidemic cases of Legionella . Early recognition and high suspicion for Legionnaires’ disease are critical to provide appropriate treatment. Cluster of cases should increase suspicion for an outbreak.

  4. Pylephlebitis and Crohn's disease: A rare case of septic shock.

    Science.gov (United States)

    Scaringi, Stefano; Giudici, Francesco; Gabbani, Giacomo; Zambonin, Daniela; Morelli, Marco; Carrà, Rossella; Bechi, Paolo

    2017-08-10

    Troncular pylephlebitis, defined as septic thrombophlebitis of the portal vein, is usually secondary to suppurative infection from the regions drained by the portal system. Therefore, pylephlebitis can occur from the portal vein main tributaries. The occurrence of mesenteric pylephlebitis in Crohn's disease is extremely rare. We describe a case of septic shock due to mesenteric pylephlebitis in a 47 years old male affected with Crohn's disease. The patient was admitted to the emergency department after he had been complained from 3h of a peri-umbilical abdominal pain associated to fever and shivering quickly followed by a severe hypotension. His medical history included histologically confirmed ileal Crohn's disease diagnosed 4 years before and treated with mesalamine only. Computed tomography scan confirmed the mesenteric pylephlebitis diagnosis. After medical therapy with antibiotics and systemic nutrition, the patient was successfully operated to treat his ileal Crohn's disease. In our case, the quick onset of a septic shock was not due to a peritonitis complicating a Crohn's disease, but to a rare condition not needing an urgent surgical resolution. This report shows that, even in Crohn's disease, once diagnosis is performed, antibiotic therapy associated to enteral and parenteral nutrition can lead to a complete clinical remission of mesenteric pylephlebitis, mandatory to perform an elective surgery. This case highlights the importance of promptly considerate and treat mesenteric pylephlebitis in presence of a septic shock in a Crohn's disease patient who is not showing clinical signs of peritonitis. Copyright © 2017. Published by Elsevier Ltd.

  5. [A Case of Moyamoya Disease Associated with SAPHO Syndrome].

    Science.gov (United States)

    Horie, Nobutaka; Baba, Mayuko; Kawada, Ken; Matsunaga, Yuuki; Sadakata, Eisaku; Morofuji, Yoichi; Izumo, Tsuyoshi; Morikawa, Minoru; Anda, Takeo; Matsuo, Takayuki

    2017-06-01

    Moyamoya disease is a unique occlusive disease of the internal carotid artery(ICA)with moyamoya vessels that can lead to transient ischemic attacks and hemorrhagic stroke. When other inherited or acquired disorders and conditions occur in conjunction with moyamoya disease, the syndrome is known as quasi-moyamoya disease. We report the case of a 34-year-old woman with a past history of SAPHO(Synovitis-Acne-Pustulosis-Hyperostosis-Osteomyelitis)syndrome, who presented with arm weakness and headache. Magnetic resonance angiography revealed severe terminal stenosis of the left ICA with moyamoya vessels, and she was diagnosed as moyamoya disease associated with SAPHO syndrome. She underwent superficial temporal artery-middle cerebral artery anastomosis and her arm weakness improved postoperatively. Postoperative course was uneventful, although she showed transient right paresthesia, which improved with conservative therapy. Autoimmune response could contribute to the development of this moyamoya disease, and we discuss its mechanism with a literature review.

  6. First Reported Case of Proliferative Retinopathy in Hemoglobin SE Disease

    Directory of Open Access Journals (Sweden)

    Paul Baciu

    2014-01-01

    Full Text Available We report the first case of proliferative sickle cell retinopathy in a patient with hemoglobin SE (Hb SE disease. Only a few dozen cases of Hb SE disease have been reported previously, and none had evidence of proliferative retinopathy. A 56-year-old African American man presented to our clinic for routine examination and was found to have sea-fan peripheral neovascularization bilaterally without maculopathy. Hemoglobin analysis revealed Hb SE heterozygosity. Sector laser photocoagulation to areas of nonperfusion in both eyes resulted in regression of the peripheral neovascularization over a period of 6 months. Although Hb SE disease is rare, the incidence of Hb SE disease is postulated to rise in the future. Awareness of its potential ocular complications is needed to appropriately refer these patients for screening.

  7. An oral ulceration associated with Morgellons disease: a case report.

    Science.gov (United States)

    Grosskopf, Courtney; Desai, Bhavik; Stoopler, Eric T

    2011-08-01

    Morgellons disease is a psycho-dermatologic condition in which patients report fibers or filaments "growing" out of their skin. This case report highlights an oral ulceration in a young woman associated with Morgellons disease, a condition that has not been previously described in the dental literature. An increasing number of individuals are self-reporting this condition and oral health care providers must be familiar with this disorder. Copyright © 2011 Mosby, Inc. All rights reserved.

  8. Audiological evaluation in mitochondrial disease: two case report

    OpenAIRE

    Silveira, Marcela Rosana Maia da; Gil, Daniela

    2008-01-01

    BACKGROUND: hearing and mitochondriopathy. PROCEDURE: this case report aims at describing audiological evaluation results of two children diagnosed with mitochondrial disease referred to Clinical Audiology Out-patient Clinic of UNIFESP/EPM. Children were referred to audiology department from metabolic diseases out-patient clinic of UNIFESP. Both have undergone pure tone audiometry, behavioral observation, immittance measures and otoacoustic emissions. RESULTS: either behavioral or physiologic...

  9. Skeletal Manifestations in Gaucher Disease: A Case Report

    Directory of Open Access Journals (Sweden)

    Altınay Göksel Karatepe

    2005-09-01

    Full Text Available Gauchers disease is the most frequent hereditary lysosomal deposit storage disorder. It is characterized by a deficiency of the enzyme glucocerebrosidase that leads to an accumulation of glucocerebroside in the macrophage lysosomes. It is classified in three types, according to the presence of central nervous system involvement (type 2 and 3 or not (type 1. In the majority of patients there are hepatosplenomegaly, anemia and thrombocytopenia. Skeletal involvement is also important and it is the most disabling manifestation. In this case report, there is presented a case of Gauchers disease with multiple skeletal involvement and the literature is reviewed.

  10. Presentation of moyamoya disease with occipital hemorrhage: a case report

    Directory of Open Access Journals (Sweden)

    Serkan Demir

    2012-12-01

    Full Text Available Moyamoya disease is a cerebrovascular disease which is characterized with stenosis and occlusions at the distal part of internal carotid artery and at the proximal part of anterior and middle cerebral arteries. It rarely causes temporary or recurrent hemiparesis due to intracranial hemorrhage while symptoms like headache, convulsion, nystagmus, aphasia and ataxia may also occur. In this paper, we present a case of Moyamoya disease which was diagnosed with a 23 year old female patient who was admitted to our emergency department with headache, nausea and vomiting complaints and whose radiological findings showed occipital lobe hemorrhage.

  11. A middle aged man with Caroli's disease: A case report

    Directory of Open Access Journals (Sweden)

    Imran Sarker

    2016-07-01

    Full Text Available Caroli's disease (CD is a rare congenital abnormality characterized by non-obstructive dilatation of intra hepatic bile ducts, which may be complicated by stone formation, recurrent cholangitis, biliary abscess and higher risk for biliary malignancy. We report a 37-year-old man with recurrent bouts of upper abdominal pain, high grade pyrexia, mild icterus with normal liver function tests who was diagnosed as a case of Caroli's disease. The laboratory studies confirmed Caroli' s disease with a SOL in liver suggestive of liver abscess and the patient received broad spectrum antibiotics with anaerobic and amoebicidal coverage. With 14 days course of antibiotics, he gradually recovered from his symptoms.

  12. Autoimmune diseases and pregnancy: analysis of a series of cases.

    Science.gov (United States)

    Gomes, Vânia; Mesquita, Alexandra; Capela, Carlos

    2015-06-04

    An autoimmune disease is characterized by tissue damage, caused by self-reactivity of different effector mechanisms of the immune system, namely antibodies and T cells. All autoimmune diseases, to some extent, have implications for fertility and obstetrics. Currently, due to available treatments and specialised care for pregnant women with autoimmune disease, the prognosis for both mother and child has improved significantly. However these pregnancies are always high risk. The purpose of this study is to analyse the fertility/pregnancy process of women with systemic and organ-specific autoimmune diseases and assess pathological and treatment implications. The authors performed an analysis of the clinical records and relevant obstetric history of five patients representing five distinct autoimmune pathological scenarios, selected from Autoimmune Disease Consultation at the Hospital of Braga, and reviewed the literature. The five clinical cases are the following: Case 1-28 years old with systemic lupus erythematosus, and clinical remission of the disease, under medication with hydroxychloroquine, prednisolone and acetylsalicylic acid, with incomplete miscarriage at 7 weeks of gestation without signs of thrombosis. Case 2-44 years old with history of two late miscarriages, a single preterm delivery (33 weeks) and multiple thrombotic events over the years, was diagnosed with antiphospholipid syndrome after acute myocardial infarction. Case 3-31 years old with polymyositis, treated with azathioprine for 3 years with complete remission of the disease, took the informed decision to get pregnant after medical consultation and full weaning from azathioprine, and gave birth to a healthy term new-born. Case 4-38 years old pregnant woman developed Behcet's syndrome during the final 15 weeks of gestation and with disease exacerbation after delivery. Case 5-36 years old with autoimmune thyroiditis diagnosed during her first pregnancy, with difficult control over the thyroid

  13. Amyotrophic lateral sclerosis – a motor neuron disease. Case report

    Directory of Open Access Journals (Sweden)

    Maja Rubinowicz-Zasada

    2015-03-01

    Full Text Available Amyotrophic lateral sclerosis, also known as Charcot’s disease and motor neuron disease, is a progressive neurodegenerative disease that causes muscle weakness, paralysis, and ultimately, respiratory failure. The aetiology and the pathogenesis of the syndrome remain unknown. Most people live 2–5 years after their first signs of the disease. There is no cure or effective treatment. We present a case of a female patient affected by progressing Charcot’s disease. On the Amyotrophic Lateral Sclerosis Functional Rating Scale – Revised (ALSFRS-R, the patient obtained 21 points. Atrophy and muscle spasm were very extended. Electromyography revealed features of coexisting denervation and reinnervation in the examined muscles. A growing number of Charcot’s disease cases require multidirectional actions to meet patient’s physical, emotional, and nutritional needs. Amyotrophic lateral sclerosis is an incurable disease. However, it is possible to relieve its symptoms by applying systematic physical rehabilitation.

  14. Four Cases of Parkinson Disease Diagnosed During the Postpartum Period.

    Science.gov (United States)

    Maltête, David; Grangeon, Lou; Le Goff, Floriane; Ozel, Gulden; Fetter, Damien; Ahtoy, Patrick; Temgoua, Olivier; Rouillé, Audrey; Lefaucheur, Romain

    2017-07-01

    There is little experience with the effect of pregnancy on Parkinson disease because the number of women with Parkinson disease who are of childbearing age is small. We report four cases beginning during the postpartum period and discuss the potential contribution of different factors that may influence the occurrence of Parkinson disease in this time period. Four women aged 29-35 years developed arm tremor, shoulder pain, dizziness, or decreased dexterity of the hand in the first few days or months after childbirth. They were initially diagnosed with postpartum depression or psychogenic parkinsonism. Finally, dopamine transporter imaging confirmed the diagnosis of young-onset Parkinson disease. Early-onset Parkinson disease may present in postpartum women. In women with atypical motor symptoms in addition to depression, this diagnosis should be considered.

  15. Hydatid disease of the spine: Case report | Kuremu | East African ...

    African Journals Online (AJOL)

    A rare case of spinal hydatid disease presenting with paraparesis and sensory loss is reported. The patient was treated with albendazole resulting in significant improvement within eight weeks. Investigations and treatment modalities are discussed. (East African Medical Journal: 2002 79(3): 165-166) ...

  16. Paediatric cardiac anaesthesia in sickle cell disease: a case series

    African Journals Online (AJOL)

    Stem cell transplant and gene therapy are reserved for selected cases, usually when other treatment modalities have failed.12,23. Perioperative considerations. Preoperative assessment and preparation. A thorough history and examination to evaluate disease severity and the extent of end-organ damage is essential.

  17. [Eye and cat scratch disease: A case series].

    Science.gov (United States)

    Deschasse, C; Bielefeld, P; Muselier, A; Bour, J B; Besancenot, J F; Garcher, C C; Bron, A M

    2016-02-01

    Cat scratch disease is a pleiomorphic condition, sometimes with isolated ophthalmic involvement. We report the clinical observations of seven cases with ophthalmologic manifestations of cat scratch disease. There were seven patients, with a median age of 52 years, of whom five were women and three had unilateral involvement. Six exhibited Leber's stellate neuroretinitis, an incomplete syndrome in two cases, and one associated with chorioretinal foci. One patient had isolated retinal infiltrates. The diagnosis of cat scratch disease was confirmed by Bartonella henselae serology, positive in all cases. All patients received treatment with doxycycline. Ocular complications (with optic atrophy and macular retinal pigment epithelial changes) were noted in five cases. Ocular bartonellosis is an atypical clinical form. It requires a directed ancillary work-up with serology or PCR, which has the peculiarity of being highly specific if not very sensitive. Treatment is above all preventive. Antibiotics may be initiated. Cat scratch disease must be excluded in the work-up of posterior uveitis. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  18. Endoscopic case: Crohn’s disease with pyloric stenosis

    OpenAIRE

    Pereira, F

    2012-01-01

    ABSTRACT We present a case of pyloric stenosis that occurred in a patient with ileocolic Crohn’s disease without significant gastric inflammation, and treated with azathioprine and messalamine. Balloon dilatation, steroid therapy, omeprazol and polymeric enteral nutrition were successful to resolve the stenosis. Later the patient was put on infliximab with good clinical response.

  19. Congenital tricuspid valve disease and testicular agenesis: a case ...

    African Journals Online (AJOL)

    This is a report of a case of congenital tricuspid valve disease presenting with heart failure and pulmonary hypertension. Cardinal clinical features include breathlessness, easy fatigability since childhood, stunted growth, cyanosis, finger clubbing, a pansystolic murmur loudest at the left sternal edge in the fourth intercostal ...

  20. Autoimmune diseases in a Nigerian woman - A case report

    African Journals Online (AJOL)

    pus erythematosis, Addisons disease, multiple sclerosis, pernicious anaemia, autoimmune haemolytic anaemia, chronic active hepatitis, idiopathic thrombocytopenic pur- pura. There is paucity of locally documented information on the occurrence of AD in same patient in our environ- ment. We therefore report the case of a ...

  1. DIFFICULT DIAGNOSIS OF CROHN’S DISEASE: A CLINICAL CASE

    Directory of Open Access Journals (Sweden)

    N. N. Nikolaeva

    2014-01-01

    Full Text Available The paper presents a case of Crohn’s disease with isolated jejunum involvement, which exemplifies the difficulty in diagnosing this condition. The clinical picture was characterized by iron-deficiency anemia and hypoproteinemia, while other typical symptoms were absent. The late diagnosis, delayed pathogenetic therapy administration led to multiple jejunum stenosis, complicated by partial small bowel obstruction.

  2. Case Report: Castleman's Disease in a Kidney Failure Patient ...

    African Journals Online (AJOL)

    Introduction: Castleman's disease is a rare lymphoid disorder. It comprises two pathological entities. These are the hyaline-vascular type which is usually localized (uni-centeric) and the plasma-cell type which is usually multicenteric and rather aggressive. Case report: Here we present a 53 years old Sudanese male who ...

  3. Case-Based Reasoning Model of the Fish Disease Diagnosis

    Science.gov (United States)

    Fu, Zetian; Hong, Guoyong; Sun, Jian

    The system of Case Based Reason is researched in this paper, a kind of genetic algorithm is proposed to solve the problem of feature vector space, and proposes an approach of integration of CBR AND RBR, an example about fish disease diagnose inferring integration model is given.

  4. Two Cases of Rhabdomyolysis (Haff Disease) After Eating Carp Fish.

    Science.gov (United States)

    Louis, Joey V; Sein, Saw; Lyon, Claudia; Apergis, George

    2016-01-01

    Unexplained rhabdomyolysis after eating fish is a rare condition caused by an unidentified toxin. Most of the incidences in the United States have been linked to consuming buffalo fish or crawfish. We present 2 cases of Haff disease in which the patients consumed grass carp as opposed to the usual suspects of buffalo fish or crawfish.

  5. Two Cases of Rhabdomyolysis (Haff Disease After Eating Carp Fish

    Directory of Open Access Journals (Sweden)

    Joey V. Louis MD

    2016-08-01

    Full Text Available Unexplained rhabdomyolysis after eating fish is a rare condition caused by an unidentified toxin. Most of the incidences in the United States have been linked to consuming buffalo fish or crawfish. We present 2 cases of Haff disease in which the patients consumed grass carp as opposed to the usual suspects of buffalo fish or crawfish.

  6. Two Cases of Rhabdomyolysis (Haff Disease) After Eating Carp Fish

    OpenAIRE

    Louis, Joey V.; Sein, Saw; Lyon, Claudia; Apergis, George

    2016-01-01

    Unexplained rhabdomyolysis after eating fish is a rare condition caused by an unidentified toxin. Most of the incidences in the United States have been linked to consuming buffalo fish or crawfish. We present 2 cases of Haff disease in which the patients consumed grass carp as opposed to the usual suspects of buffalo fish or crawfish.

  7. Intrauterine fetal death due to Farber disease: case report

    NARCIS (Netherlands)

    van Lijnschoten, G.; Groener, J. E.; maas, S. M.; Ben-Yoseph, Y.; Dingemans, K. P.; Offerhaus, G. J.

    2000-01-01

    We report a case of Farber disease in a fetus who died in utero at a gestational age of 29 weeks. Macroscopic examination showed moderate postmortem changes in a microcephalic female fetus (46,XX) with mild internal hydrops, two vessels in the umbilical cord, and a moderately enlarged, relatively

  8. MRI in primary intraspinal extradural hydatid disease: case report

    Energy Technology Data Exchange (ETDEWEB)

    Berk, C. [Department of Neurosurgery, Ankara University Faculty of Medicine, Avicenna Medical Centre, Ankara (Turkey); Ciftci, E. [Camlik Sitesi, Ankara (Turkey); Erdogan, A. [Department of Radiology, Ankara University Faculty of Medicine, Avicenna Medical Centre, Ankara (Turkey)

    1998-06-01

    A rare case of pathologically proven primary intraspinal extradural hydatid disease of the thoracic region with spinal cord compression is reported. The diagnosis was established preoperatively on the basis of the MRI findings. The patient underwent surgery and recovered completely. (orig.) With 2 figs., 12 refs.

  9. Pediatric Dupuytren's Disease: Case Report and Review of the ...

    African Journals Online (AJOL)

    Dupuytren's disease (DD) is a rare entity in the pediatric population, especially in children younger than 10 years of age. We report the case of a 6-year-old boy with contracture and a left-hand nodule that was excised and histologically confirmed to be Dupuytren's. Although there are several causes of flexion contracture of ...

  10. Hirschsprung disease and hepatoblastoma: case report of a rare association

    Directory of Open Access Journals (Sweden)

    Raquel Borges Pinto

    Full Text Available ABSTRACT CONTEXT: Hirschsprung disease is a developmental disorder of the enteric nervous system that is characterized by absence of ganglion cells in the distal intestine, and it occurs in approximately 1 in every 500,000 live births. Hepatoblastoma is a malignant liver neoplasm that usually occurs in children aged 6 months to 3 years, with a prevalence of 0.54 cases per 100,000. CASE REPORT: A boy diagnosed with intestinal atresia in the first week of life progressed to a diagnosis of comorbid Hirschsprung disease. Congenital cataracts and sensorineural deafness were diagnosed. A liver mass developed and was subsequently confirmed to be a hepatoblastoma, which was treated by means of surgical resection of 70% of the liver volume and neoadjuvant chemotherapy (ifosfamide, cisplatin and doxorubicin. CONCLUSION: It is known that Hirschsprung disease may be associated with syndromes predisposing towards cancer, and that hepatoblastoma may also be associated with certain congenital syndromes. However, co-occurrence of hepatoblastoma and Hirschsprung disease has not been previously described. We have reported a case of a male patient born with ileal atresia, Hirschsprung disease and bilateral congenital cataract who was later diagnosed with hepatoblastoma.

  11. Preoperative CT scanning of 70 cases of rheumatic valvular disease

    Energy Technology Data Exchange (ETDEWEB)

    Take, Akira; Matuzaki, Shigeru; Oki, Shinichi (Jichi Medical School, Minamikawachi, Tochigi (Japan)) (and others)

    1992-05-01

    Seventy patients with rheumatic valvular disease were evaluated with preoperative CT scanning. The correlation of the obtained CT images to the operative findings were examined. Left atrial thrombi were found in 24 cases at the operation. CT scan had detected thrombi in 19 cases (79.2%) and echocardiography in 15 (62.5%). CT failed to find them in 5 cases in which the left atrial thrombi were less than 3 g. Echocardiogram, however, failed to detect thrombi in 9 cases, the largest being 14 g. There were 15 cases with left atrial calcification, in which 10 cases had left atrial thrombi. Nine cases out of these 10 cases had rough left atrial surface after thrombectomy. Early postoperative CT of 10 with left atrial calcification showed recurrent left atrial thrombi in 4 (40%) cases. Mitral valve calcification was found in 42 cases during operation. CT scan was able to detect it in 40 (95.2%), while echocardiogram detected in 34 cases (81.0%) (p<0.05). All mitral valves with calcification required replacement. Out of 30 cases with non calcified mitral valves, 9 underwent OMC, and the other 21 underwent mitral valve replacement. Aortic valve calcification was found in 9 out of 11 cases of aortic stenosis. All has been diagnosed by CT scan. In conclusion, 1. in detecting the left atrial thrombi, CT scan was superior to echo-cardiography, and provided useful information for planning the operative procedure including atrial approach and valvular manipulation, 2. CT scan could detect calcification of left atrial wall which had high incidence of thrombus formation and rough left atrial surface, 3. CT scan could detect calcification of both mitral and aortic valve, and showed the severity of valvular structural changes. (author).

  12. Acute tubulointerstitial nephritis complicating Legionnaires' disease: a case report

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    Daumas Aurélie

    2012-04-01

    Full Text Available Abstract Introduction Legionnaires' disease is recognized as a multi-systemic illness. Afflicted patients may have pulmonary, renal, gastrointestinal tract and central nervous system complications. However, renal insufficiency is uncommon. The spectrum of renal involvement may range from a mild and transient elevation of serum creatinine levels to anuric renal failure requiring dialysis and may be linked to several causes. In our present case report, we would like to draw attention to the importance of the pathological documentation of acute renal failure by reporting a case of a patient with acute tubulointerstitial nephritis complicating Legionnaires' disease. Case presentation A 55-year-old Caucasian man was admitted to our hospital for community-acquired pneumonia complicated by acute renal failure. Legionella pneumophila serogroup type 1 was diagnosed. Although the patient's respiratory illness responded to intravenous erythromycin and ofloxacin therapy, his renal failure worsened, he became anuric, and hemodialysis was started. A renal biopsy was performed, which revealed severe tubulointerstitial nephritis. After initiation of steroid therapy, his renal function improved dramatically. Conclusions This case highlights the importance of kidney biopsies in cases where acute renal failure is a complicating factor in Legionnaires' disease. If the presence of acute tubulointerstitial nephritis can be confirmed, it will likely respond favorably to steroidal treatment and thus irreversible renal damage and chronic renal failure will be avoided.

  13. Periodontal disease in a patient receiving Bevacizumab: a case report

    Directory of Open Access Journals (Sweden)

    Gujral Dorothy M

    2008-02-01

    Full Text Available Abstract Introduction Bevacizumab is a monoclonal antibody that inhibits the action of vascular endothelial growth factor (VEGF thereby acting as an angiogenesis inhibitor. As a result, supply of oxygen and nutrients to tissues is impaired and tumour cell growth is reduced. Reported side effects due to bevacizumab are hypertension and increased risk of bleeding. Bowel perforation has also been reported. Periodontal disease in patients on bevacizumab therapy has not been reported before. Case Presentation We report a case of a forty-three year old woman who developed periodontitis whilst receiving bevacizumab for lung cancer. The periodontal disease remained stable on discontinuation of the drug. Conclusion Further investigations are needed to determine the mechanism for bevacizumab-induced periodontal disease.

  14. [A case of hepatocellular carcinoma complicated with Caroli's disease].

    Science.gov (United States)

    Ijima, Masashi; Shimoda, Ryuya; Katakai, Kenji; Seki, Asako; Oshimoto, Hirokazu; Masuda, Jun; Morinaga, Nobuhiro; Suzuki, Yutaka; Kakizaki, Satoru; Arai, Taido

    2010-09-01

    A 29-year-old man was admitted with right hypochondralgia and fever. Markedly dilated bile ducts were observed, mainly in the right lobe of the liver. Based on both the clinical findings and imaging, we diagnosed Caroli's disease and choledochal cyst complicated with cholangitis. Hepatocellular carcinoma (HCC) was also observed in segment 3, and the tumor measured 4cm in diameter. The patient was successfully treated with hepatectomy of the right lobe, partial hepatectomy of the left lateral lobe, and bile duct reconstruction. A histopathological examination revealed moderately differentiated HCC without any components of cholangiocellular carcinoma (CCC). Although Caroli's disease is complicated with CCC, a case of Caroli's disease complicated with HCC, as in the present case, is quite rare and therefore is considered to be worthy of reporting.

  15. A Pediatric Case of Cowden Syndrome with Graves’ Disease

    Directory of Open Access Journals (Sweden)

    Cláudia Patraquim

    2017-01-01

    Full Text Available Cowden syndrome (CS is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves’ disease (GD. At the age of 15, he presented with intention tremor, palpitations, and marked anxiety. On examination, he had macrocephaly, coarse facies, slight prognathism, facial trichilemmomas, abdominal keratoses, leg hemangioma, and a diffusely enlarged thyroid gland. He started antithyroid drug (ATD therapy with methimazole and, after a 2-year treatment period without achieving a remission status, a total thyroidectomy was performed. Diagnosis and management of CS should be multidisciplinary. Thyroid disease is frequent, but its management has yet to be fully defined. The authors present a case report of a pediatric patient with CS and GD and discuss treatment options.

  16. An Adult Case of Kawasaki Disease in a Pregnant Japanese Woman: A Case Report

    Directory of Open Access Journals (Sweden)

    Kyoko Kanno

    2011-04-01

    Full Text Available Kawasaki disease is an acute febrile disease predominantly seen in young children. We report a case of Kawasaki disease in a 32-year-old pregnant woman. She developed a generalized erythematous skin rash accompanied by high fever. Bilateral conjunctival congestion, tender cervical lymphadenopathy, an edematous lower lip and peripheral edema followed by desquamation were observed. She was successfully treated with aspirin and intravenous gammaglobulin (1 g/kg/day. Her course was not complicated by coronary artery aneurysm and she delivered a healthy baby. To the best of our knowledge, this is the first case of Kawasaki disease in a pregnant woman. We suggest that Kawasaki disease should be included in the differential diagnosis of a generalized, erythematous skin rash accompanied by high fever in adults.

  17. Zika Virus Disease: Case Report and Review of Literature.

    Science.gov (United States)

    Darko, Richmond; Mashburn, Jessica L

    2016-10-01

    Zika virus (ZIKV) infection and its associated complications have become a significant public health concern. Zika virus is a Flavivirus, and is transmitted to humans by Aedes species mosquitoes. In May 2015, the World Health Organization reported the first locally acquired transmission of ZIKV in Brazil, the first case in the Western Hemisphere. There have also been reports of increased incidence of microcephaly and other neurologic complications associated with ZIKV infection, as well as a 20-fold increase in the incidence of Guillain-Barre Syndrome during ZIKV outbreaks. In light of the clusters of microcephaly and neurologic manifestations in areas of ZIKV transmission, the World Health Organization declared ZIKV and associated complications an international public health emergency. The clinical presentations of ZIKV disease resemble many common infections, making the diagnosis of ZIKV disease a clinical challenge. Patients with ZIKV infection may have other coinfections that can distract clinicians from suspecting ZIKV disease in their patients. Complications from ZIKV, although uncommon, may be severe. Therefore, it is important for health care providers to remain alert and up to date in the efforts to control this emerging global health crisis. It is critical for physicians and other providers to know the growing list of countries and territories on the US Centers for Disease Control and Prevention list of nations with endemic ZIKV disease and to work closely with local health departments to prevent spread. In this article, we present a case of ZIKV disease in a pediatric patient and review of the current literature.

  18. Castleman’s disease – a case report

    Directory of Open Access Journals (Sweden)

    Maciej Wilczak

    2011-03-01

    Full Text Available Angiofollicular lymphoid hyperplasia (Castleman’s disease is a very rare disease of lymphatic tissue, manifested by overgrowth of B lymphocytes and plasma cells in lymph nodes. The aetiology of this lymphocyte hyperplasia has not been conclusively explained and its pathogenesis is still not known. There are three types of the disease based on histological criteria: plasma-cell, hyaline-vascular and transitional. Clinically it is classified into two forms, localized and multicentric (disseminated/generalized. Castleman’s disease may develop not only in lymph nodes, but also in other organs and tissues, e.g. larynx, pancreas, meninges, etc. In patients with localized Castleman’s disease the most important therapy is radical surgery of the tumour, which creates conditions leading to complete recovery. In the case of multicentric diagnosis the prognosis is unsure.The paper describes an atypical case of Castleman’s disease, diagnosed as localized form in the patient’s pelvis minor with accompanying cystic changes in the mesocolon.

  19. A case of megacolon in Rio Grande Valley as a possible case of Chagas disease

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    Karl Reinhard

    2003-01-01

    Full Text Available We have been searching for evidence of Chagas disease in mummified human remains. Specifically, we have looked for evidence of alteration of intestinal or fecal morphology consistent with megacolon, a condition associated with Chagas disease. One prehistoric individual recovered from the Chihuahuan Desert near the Rio Grande exhibits such pathology. We present documentation of this case. We are certain that this individual presents a profoundly altered large intestinal tract and we suggest that further research should focus on confirmation of a diagnosis of Chagas disease. We propose that the prehistoric activity and dietary patterns in Chihuahua Desert hunter/gatherers promoted the pathoecology of Chagas disease.

  20. [A Case of Intracranial Localized Castleman's Disease Mimicking Convexity Meningioma].

    Science.gov (United States)

    Ozono, Keisuke; Fujimoto, Takashi; Hirose, Makoto; Kawahara, Ichiro; Uchihashi, Kazuyoshi

    2017-01-01

    A 68-year-old man presented with abnormal behavior and Todd's paralysis on the right side after having taken a bath. Computed tomography and magnetic resonance imaging revealed a tumor mimicking convexity meningioma that had a perifocal edema, although its mass was not very large. The patient underwent surgery, and full recovery was achieved following a total removal of the lesion. Pathohistological examination demonstrated an intermediate type of Castleman's disease. The final diagnosis was intracranial localized Castleman's disease because the results of the full physical examination and laboratory analyses were normal. Castleman's disease is a rare lymphoproliferative disorder of unknown etiology. Moreover, intracranial involvement is very rare. In cases of intracranial meningeal tumors with perifocal edema, we should take this disease into consideration in the differential diagnosis.

  1. A case of Niemann – Pick disease type C

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    Sergei Anatolyevich Klyushnikov

    2013-01-01

    Full Text Available The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC, a rare inherited orphan disease, belonging to a group of lipid storage diseases. It gives an update on the etiology and pathogenesis of this type of glycosphingolipidosis and on established gene mutations. The clinical polymorphism of NPC and the trends in the development of somatic, mental, and neurological disorders are highlighted in relation to the onset age of the disease. The problem of differential diagnosis is discussed. The diagnostic NPC probability index in scores and the latest methods for laboratory diagnostic verification, including molecular genetic testing, are presented.Information is given on specific substrate reduction therapy with miglustat for NPC.

  2. Case report of Graves' disease manifesting with odynophagia and heartburn.

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    Evsyutina, Yulia; Trukhmanov, Alexander; Ivashkin, Vladimir; Storonova, Olga; Godjello, Elina

    2015-12-28

    Graves' disease is an autoimmune disease, which can manifest with a variety of extrathyroidal clinical syndromes like ophthalmopathy, pretibial myxedema (dermopathy), acropathy, cardiomyopathy, and encephalopathy. Though quite rare, this disease can also manifest with gastrointestinal symptoms such as dysphagia, heartburn, nausea, vomiting and diarrhea. We report a clinical case of Graves' disease manifesting with dysfunction of the esophagus and heartburn in a 61-year-old man. In the muscular layer of the esophagus we found dystrophic changes led to its atony, which was documented by endoscopy and high-resolution manometry. The pathology features of esophageal symptoms were: focal proliferation of the basal cells, vascular distension, and dystrophy of the epithelial cells. Antithyroid treatment led to decrease of all clinical symptoms after 5 d of Thiamazole administration. Complete restoration of peristalsis in the esophagus, according to manometry, was observed in 1 mo after initiation of treatment.

  3. [Caroli's disease, case report and review of the literature].

    Science.gov (United States)

    Agustsson, Agust Ingi; Cariglia, Nick

    2007-09-01

    In 1958 Caroli described a rare disease with multifocal, segmental and saccular dilation of the large intrahepatic bile ducts which causes stagnation of bile and formation of bile sludge and stones. This results in recurrent abdominal pain, cholangitis and hepatic abscesses. The diagnosis is confirmed with endoscopic retrograde cholangiopancreatography (ERCP) and percutaneous transhepatic cholangiography (PTC) and the purpose of treatment is to restore normal bile flow. Partial resection of the liver has given good results in patient with localized disease. The prognosis is poor despite drainage of bile and 46% of patients die from sepsis, hepatic abscesses, hepatic failure or portal hypertension. There is more than a hundred fold risk of cholangiocarcinoma. We report a case where a male who had a history of recurrent bouts of abdominal pain and pancreatitis was diagnosed with Caroli's disease. He later developed cholangiocarcinoma. Caroli's disease has not, to our knowledge, been reported in Iceland before.

  4. A rare case of hidebound disease with dental implications

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    Vikram Bali

    2013-01-01

    Full Text Available Systemic sclerosis (also called as Scleroderma or hidebound disease is a chronic sclerotic disease of unknown etiology which causes diffuse, increased deposition of extra cellular matrix in connective tissue with vascular abnormalities, resulting in tissue hypoxia. The disease is characterized by diffuse fibrosis; degenerative changes; and vascular abnormalities in the skin (scleroderma, articular structures, and internal organs. Aesthetic and facial dysfunctions are followed by important oral and facial manifestations. Most oral manifestations begin with tongue rigidity and facial skin changes. Bone resorption of mandibular angle and widening of periodontal ligament space on periapical radiographs are important radiological findings. Other systemic changes include the involvement of internal organs, which lead to serious complications as well as disorders in the cardiac muscle and Raynaud΄s phenomenon. This is a case report of 30-year-old female patient with the classical features of this disease. This case is reported for its rarity and variable expressivity. The main aim of this article is to describe thorough presentation of the case report, various forms of scleroderma, pathogenesis, oral, extraoral, periodontal manifestations of scleroderma, and its treatment options. A brief review of the literature, focusing on dental alterations is also presented.

  5. Three cases of Dowling Degos disease in two families

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    Bhagwat P

    2009-01-01

    Full Text Available Dowling Degos disease is a rare condition inherited as autosomal dominant trait characterized by numerous, asymptomatic, symmetrical, progressive, small, round-pigmented macules over axillae and groins, face, neck, arms and trunk, scattered comedo-like lesions (dark dot follicles and pitted acneiform scars. Histopathology is diagnostic. We are hereby reporting three cases of Dowling Degos disease belonging to two families. Our first and second case belonged to the same family, whereas our third case belonged to different family. In our series, all the patients had onset after puberty. All three cases had reticulate pigmentation over face and/or flexures, black comedones and follicular pits. On histopathological examination of the skin biopsy taken from the lesion over the back, all these patients showed classical histopathological features of Dowling Degos disease. We feel that one should investigate the patient presenting with reticulate pigmentation over the face and flexures with blackish comedone-like lesions, because histopathological features of this condition are unmistakable.

  6. Pediatric Gastrointestinal Diseases in Nigeria: Histopathologic Analysis of 74 Cases

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    Abudu

    2013-10-01

    Full Text Available BACKGROUND: Children are vulnerable to a vast number of diseases including gastrointestinal disorders, which may be associated with life threatening complications that sometimes result in mortality especially if left untreated. OBJECTIVE: To establish the age and sex distribution of children in the study population as well as the histopathological characteristics of gastrointestinal diseases that occurred in those children who were aged 14years and below in Sagamu, Southwestern Nigeria. MATERIALS AND METHODS: Demographic data such as age, sex, and clinical summary of children in the study population were extracted from the medical records of Olabisi Onabanjo University Teaching Hospital, Sagamu, Ogun State from January 2003 to December 2009. Based on this information, a review of paraffin embedded blocks and slides as well as histopathological reports of gastrointestinal diseases that occurred in those children aged 14years and below was undertaken at the Morbid Anatomy Department of the hospital. RESULTS: Seventy–four cases of gastrointestinal diseases were seen in children aged 14years and below. The majority (39.2% of gastrointestinal diseases were accounted for by appendiceal lesions. Hirschsprung’s disease, intussusceptions, enterocolitis and jejunal atresia accounted for 29.7%, 10.8%, 6.8% and 4.1% of cases respectively. Adenocarcinoma of the intestine was the predominant gastrointestinal tumour, occurring in 5 out of 7 children. Two cases of non-Hodgkin lymphoma were also seen. The ages of the children ranged from 2 to 14 years, with a mean age of 8.6years and a peak age incidence of gastrointestinal disease in the 10-14year age group. Male children were more commonly affected with the exception of appendiceal lesions, which occurred more in females (M:F ratio= 1.6:1.0. Acute suppurative appendicitis was the most prevalent lesion of the appendix, occurring in 13 out of 29 appendiceal lesions. Moderately differentiated to poorly

  7. A case of Menetrier's disease without Helicobacter pylori or hypoalbuminemia.

    Science.gov (United States)

    Azer, Mina; Sultan, Ahmad; Zalata, Khaled; Abd El-Haleem, Ibrahim; Hassan, Adel; El-Ebeidy, Gamal

    2015-01-01

    Menetrier's disease is a rare premalignant hypertrophic gastropathy. It is characterized by huge gastric mucosal folds, peripheral edema due to protein loss and upper GIT symptoms such as epigastric pain, discomfort, nausea and vomiting. Female patient 35 years old complaining of severe epigastric pain, dyspepsia, nausea and vomiting for 1 year. Upper GIT endoscopy and CT scan revealed thickening of gastric mucosa. Endoscopic biopsy was non-specific but showed moderate grade dysplasia and no Helicobacter pylori infection. All laboratory investigations were within normal including serum albumin. She underwent total gastrectomy with marked postoperative improvement of symptoms after recovery. Postoperative pathology revealed gastric fovular hyperplasia and glandular atrophy which are diagnostic for Menetrier's disease. the preoperative diagnosis of Menetrier's disease in this case was challenged by its unusual features. There were neither H. pylori nor hypoalbuminemia. Literature review showed similarcases which can raise the suspicion of the presence of an undescribed subtype of the disease. Menetrier's disease should be suspected in cases of upper GIT symptoms and hypertrophied gastric mucosa with or without H. pylori or hypoalbuminemia. The preoperative diagnosis could not be confirmed unless a whole mucosal thickness biopsy is performed. Surgical management is a good option when medical treatment fails to relieve the symptoms and erase the risk of malignancy. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  8. Hirschsprung disease and hepatoblastoma: case report of a rare association.

    Science.gov (United States)

    Pinto, Raquel Borges; Ramos, Ana Regina Lima; Backes, Ariane Nadia; Santos, Beatriz John Dos; Provenzi, Valentina Oliveira; Carbonera, Mário Rafael; Roenick, Maria Lúcia; Santos, Pedro Paulo Albino Dos; Falhauber, Fabrizia; Souza, Meriene Viquetti de; Bassols, João Vicente; Artigalás, Osvaldo

    2016-04-01

    Hirschsprung disease is a developmental disorder of the enteric nervous system that is characterized by absence of ganglion cells in the distal intestine, and it occurs in approximately 1 in every 500,000 live births. Hepatoblastoma is a malignant liver neoplasm that usually occurs in children aged 6 months to 3 years, with a prevalence of 0.54 cases per 100,000. A boy diagnosed with intestinal atresia in the first week of life progressed to a diagnosis of comorbid Hirschsprung disease. Congenital cataracts and sensorineural deafness were diagnosed. A liver mass developed and was subsequently confirmed to be a hepatoblastoma, which was treated by means of surgical resection of 70% of the liver volume and neoadjuvant chemotherapy (ifosfamide, cisplatin and doxorubicin). It is known that Hirschsprung disease may be associated with syndromes predisposing towards cancer, and that hepatoblastoma may also be associated with certain congenital syndromes. However, co-occurrence of hepatoblastoma and Hirschsprung disease has not been previously described. We have reported a case of a male patient born with ileal atresia, Hirschsprung disease and bilateral congenital cataract who was later diagnosed with hepatoblastoma.

  9. Amino acid-responsive Crohn's disease: a case study

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    Alvin Stein

    2010-12-01

    Full Text Available Alvin Stein1, Marty Hinz2, Thomas Uncini31Stein Orthopedic Associates, Plantation, FL, USA; 2Clinical Research, NeuroResearch Clinics Inc., Cape Coral, FL, USA; 3Laboratory, Fairview Regional Medical Center-Mesabi, Hibbing, MN, USAPurpose: This paper reviews the clinical course of a case of severe Crohn's disease and discusses the scientific ramifications of a novel treatment approach.Patients and methods: A case study of a 37-year-old male with a 22-year history of Crohn's disease whose clinical course had experienced no sustained remissions. The patient was treated with a protocol that utilized serotonin and dopamine amino acid precursors administered under the guidance of organic cation transporter assay interpretation.Results: Within 5 days of achieving the necessary balance of serotonin and dopamine, the patient experienced remission of symptoms. This remission has been sustained without the use of any Crohn's disease medications.Conclusion: In Crohn's disease, it is known that there is an increase of both synthesis and tissue levels of serotonin in specific locations. It is asserted that this is prima facie evidence of a significant imbalance in the serotonin–dopamine system, leading to serotonin toxicity. The hypothesis formulated is that improperly balanced serotonin and dopamine transport, synthesis, and metabolism is a primary defect contributing to the pathogenesis of Crohn's disease.Keywords: serotonin, dopamine, organic cation transporters, OCT

  10. Linear Darier's disease: A case with bilateral presentation

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    Anal Jyoti Bordoloi

    2015-01-01

    Full Text Available Darier's disease is an autosomal dominant genodermatosis characterized by a persistent eruption of hyperkeratotic greasy papules mainly over the seborrheic sites of the body, usually associated with nail abnormalities and sometimes with mucous membrane lesions. The lesions typically occur in the younger age group and are associated with pruritus. We report here an atypical case of Linear Darier's disease with bilateral presentation in a middle-aged adult that could be confused with conditions such as lichen planus, inflammatory linear verrucous epidermal nevus, and wart.

  11. A Case Of Ollier′s Disease With Intracranial Enchondroma

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    Sidharthan Neeraj

    2005-01-01

    Full Text Available The syndrome of multiple enchondromas is known as Ollier′s disease. Enchondromas are benign tumours of hyaline cartilage arising within the medullary cavity of tubular bones. We are reporting the case of a 16 year old girl with Ollier′s disease who presented with seizures and brainstem compression. A MRI scan of brain showed an intracranial space-occupying lesion in the region of clivus. The intracranial tumour was surgically removed and the histopathology confirmed the diagnosis of enchondroma. Intracranial enchondroma is an extremely rare situation and reported for the first time from south India.

  12. Primary hydatid disease of breast: a case report.

    Science.gov (United States)

    Sheikh, Sheema; Akhter, Rukhsana; Bhat, Salma; Wani, Rohi

    2017-09-01

    Human hydatid disease, or echinococcosis, is a helminthic infection that leads to the formation of fluid-filled cysts in the liver, lungs and other organs. Breast, is a rare primary site of hydatid disease. We report a case of a 45 years old female who presented with a breast lump of 2 years duration. On fine needle aspiration cytology a diagnosis of fibrocystic changes of the breast was made and ultrasonography breast showed a thick walled infected cystic lesion. Intraoperatively, a diagnosis of hydatid cyst was made which was confirmed on histopathology.

  13. Hirayama disease with juvenile myoclonic epilepsy: A case report

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    Jin-Sung Park

    2014-01-01

    Full Text Available Hirayama disease (HD is rare, but benign anterior horn cell disease, predominantly affecting young men. One of the symptoms, besides weakness, is abnormal movement in the hand. Juvenile myoclonic epilepsy (JME is one of the most common types of generalized epilepsies and can be recognized by a myoclonic jerk and electroencephalography (EEG features. We report the case of a 19-year-old male who had HD, with unilateral abnormal movement in the hand, which was diagnosed as JME. We should consider performing an EEG in patients with HD, who present with atypical hand movements, in order to differentiate it from seizure.

  14. Diffuse Caroli's disease with atypical presentation: a case report.

    Science.gov (United States)

    Acioli, Maíra Lima; Costa, Lawrence Raizama Gonçalves; de Miranda Henriques, Mônica Souza

    2014-01-01

    This paper describes a case of Caroli's disease in a female patient aged 32, who complained of nonspecific abdominal pain without cholesthasis or cholangitis. Liver resonance shows segment saccular dilations closely connected to intrahepatic biliary ducts, that differ from the Caroli's syndrome, which is more common and consists of multiple intrahepatic cystic dilatations, associated to congenital hepatic fibrosis. This patient has a congenital anomaly with an uncommon oligosymptomatic form of Caroli's disease that should be included in the differential diagnosis of patients with recurrent abdominal pain.

  15. A Case of Multiple Sclerosis and Celiac Disease

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    H. Z. Batur-Caglayan

    2013-01-01

    Full Text Available Objectives. Multiple sclerosis (MS is an inflammatory autoimmune disorder of the central nervous system (CNS. Since a correlation between gluten intake and incidence of MS had been reported, the relationship of antigliadin antibodies and MS was debated. Case Report. We report the case of a 45-year-old female MS patient who is under interferon treatment. After seven years of monitoring, during her routine gastroenterological assessment, she was diagnosed with celiac disease. Conclusion. Beside the neurological manifestations that have been demonstrated in about 10% of celiac disease (CD patients, white-matter abnormalities in brain MRI are uncommon and controversial. But in the literature, MS seems to be associated with CD as in our patient. We suggest that MS patients with gastroenterological complaints should undergo an assessment for CD.

  16. A case-control study of Alzheimer's disease in Australia.

    Science.gov (United States)

    Broe, G A; Henderson, A S; Creasey, H; McCusker, E; Korten, A E; Jorm, A F; Longley, W; Anthony, J C

    1990-11-01

    We conducted a case-control study of clinically diagnosed Alzheimer's disease (AD) on 170 cases aged 52 to 96 years, and 170 controls matched for age, sex and, where possible, the general practice of origin. Trained lay interviewers naive to the hypotheses and to the clinical status of the elderly person carried out risk-factor interviews with informants. Significant odds ratios were found for 4 variables: a history of either dementia, probable AD, or Down's syndrome in a 1st-degree relative, and underactivity as a behavioral trait in both the recent and more distant past. Previously reported or suggested associations not confirmed by this study include head injury, starvation, thyroid disease, analgesic abuse, antacid use (aluminum exposure), alcohol abuse, smoking, and being left-handed.

  17. IMPULSIVE-COMPULSIVE DISORDERS IN PARKINSON'S DISEASE. CLINICAL CASES

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    N. V. Fedorova

    2015-01-01

    Full Text Available Objective – a description of clinical cases of impulsive­compulsive disorders in Parkinson,s disease. The first clinical case. Patient N., 75 years old, suffering for 15 years from Parkinson,s disease, akinetic­rigid form of the disease, stage 4 by Hyun–Yar. Since 2009, he received levodopa/carbidopa 250/25 mg 5 times/day (daily dose of 1250 mg of levodopa; pramipexole 3.5 mg per day (daily dose 3.5 mg, amantadine sulfate 100 mg 5 times/day (daily dose 500 mg. While taking antiparkinsonian drugs the patient developed behavioral disorders such as dopamine disregulatory syndrome combined with punding, hypersexuality and compulsive shopping accompanied by visual hallucinations. The total equivalent dose of levodopa was 1600 mg per day. The second clinical case. Patient R., 52 years old, suffers from Parkinson,s disease about 5 years, a mixed form. She complained of slowness of movement, tremor in her left hand, sleep disturbances, poor mood. The clinic was appointed piribedil 50 mg 3 times per day. Despite the fact that the patient took only one of dopaminergic drugs in a therapeutic daily dose, she developed impulsive­compulsive disorder as hyper­ sexuality, compulsive shopping and binge eating. Results. In the first clinical case for correction of behavioral disorders in patients with Parkinson,s disease levodopa/carbidopa dose was reduced to 750 mg per day (3/4 Tab. 4 times a day; added to levodopa/benserazide dispersible 100 mg morning and levodopa/benserazide 100 mg before sleep (total dose of levodopa of 950 mg per day. Amantadine sulfate and pramipexole were canceled. It was added to the therapy of atypical neuroleptic clozapine dose 6,25 mg overnight. After 3 months marked improvement, regressed visual hallucina­ tions, improved family relationships, background mood became more stable. The patient continue to sing karaoke, but this hobby has be­ come less intrusive. In the second clinical event correction impulsive

  18. Kennedy disease in Peru: first cases with molecular diagnosis

    OpenAIRE

    Gómez-Calero, Víctor; Departamento de Enfermedades Neurodegenerativas, Instituto Nacional de Ciencias Neurológicas. Lima, Perú. Centro de Investigación en Neurogenética, Instituto Nacional de Ciencias Neurológicas. Lima. Médico residente de Neurología.; Cornejo-Olivas, Mario; Centro de Investigación en Neurogenética, Instituto Nacional de Ciencias Neurológicas. Lima, Perú. Northern Pacific Global Health Research Fellows Training Consortium. Bethesda, EE. UU. médico neurólogo.; Ortega, Olimpio; Centro de Investigación en Neurogenética, Instituto Nacional de Ciencias Neurológicas. Lima, Perú. biólogo genetista.; Marca, Victoria; Centro de Investigación en Neurogenética, Instituto Nacional de Ciencias Neurológicas. Lima, Perú. magíster en Bioquímica.; Lindo-Samanamud, Saúl; Centro de Investigación en Neurogenética, Instituto Nacional de Ciencias Neurológicas. Lima, Perú. magíster en Bioquímica.; Flores, Martha; Departamento de Enfermedades Neurodegenerativas, Instituto Nacional de Ciencias Neurológicas. Lima, Perú. médico neurólogo.; Torres-Ramírez, Luis; Departamento de Enfermedades Neurodegenerativas, Instituto Nacional de Ciencias Neurológicas. Lima, Perú. Médico neurólogo; Mazzetti, Pilar; Centro de Investigación en Neurogenética, Instituto Nacional de Ciencias Neurológicas. Lima, Perú. Facultad de Medicina, Universidad Nacional Mayor de San Marcos. Lima, Perú. Médico neurólogo magister en Gestión Pública.

    2014-01-01

    Kennedy’s disease is an X-linked recessive disorder with onset in adulthood, characterized by progressive degeneration of spinal motor neurons due to a dynamic mutation in the androgen receptor gene. We report three families (five cases) characterized by progressive weakness involving both limbs and bulbar muscles, atrophy, tremor, cramps and endocrinologic disturbances; the neurophysiological studies demonstrated second motor neuron impairment. The molecular analysis identified abnormal CAG ...

  19. Periodontal disease in a patient receiving Bevacizumab: a case report

    OpenAIRE

    Gujral Dorothy M; Bhattacharyya Sanjeev; Hargreaves Peter; Middleton Gary W

    2008-01-01

    Abstract Introduction Bevacizumab is a monoclonal antibody that inhibits the action of vascular endothelial growth factor (VEGF) thereby acting as an angiogenesis inhibitor. As a result, supply of oxygen and nutrients to tissues is impaired and tumour cell growth is reduced. Reported side effects due to bevacizumab are hypertension and increased risk of bleeding. Bowel perforation has also been reported. Periodontal disease in patients on bevacizumab therapy has not been reported before. Case...

  20. Kawasaki disease in an infant: a case report

    OpenAIRE

    Karine Guimarães Lacerda; Gabriela Moreira de Toledo; Izilda das Eiras Tâmega; Bárbara Werner Griciunas; Luciana Cristina Vieira dos Santos

    2017-01-01

    Infant case report diagnosed with Kawasaki disease, a febrile vasculitis that affects mainly children between 2 and 3 years old. The causative agent is still unknown, but the epidemiology and clinical features suggest infectious character. There may be cardiac involvement and micro aneurysms in the coronary arteries. Differential diagnoses are measles, adenovirus and juvenile rheumatoid arthritis. Treatment is with intravenous immunoglobulin, salicylates and steroids. The patient, who is 13 m...

  1. Choroidal Coloboma in a Case of Tay-Sachs Disease

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    Nasreen Raees Ahmed

    2014-01-01

    Full Text Available Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma. To the best of our knowledge, such an association has not been documented in the literature. Whether such an association is a matter of chance or signifies the involvement of ganglioside metabolism in ocular embryogenesis remains to be elucidated.

  2. Peribiliary cysts can mimic Caroli's disease: a case report.

    Science.gov (United States)

    Fusai, G; Tucker, O; Nik Sulaiman, N M; Karani, J; Rela, M; Portmann, B

    2005-10-01

    Peribiliary cysts, otherwise known as cystic dilatation of the peribiliary glands, are uncommon, and are usually discovered incidentally at autopsy, or in explants following liver transplantation. Preoperative diagnosis is often difficult owing to their asymptomatic nature and small size. Exclusion of a premalignant or malignant cystic condition is mandatory. We report a case of peribiliary cysts, initially thought to represent Caroli's disease, and briefly discuss the management of this condition.

  3. Monilethrix – Case report of a rare disease

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    Tasleem Arif

    2015-01-01

    Full Text Available Monilethrix is a rare genetic disorder of hair characterized by beaded appearance of the hair shaft leading to hair fragility and patchy dystrophic alopecia. In this disorder, the hair shaft has alternate widenings (nodes and constrictions (internodes that lead to fracture of hair shaft and varying degree of alopecia. We report an eight year old Kashmiri boy who presented with diffuse hair loss since infancy. As monilethrix is a rare disease entity which prompted us to report this case.

  4. PSYCHIATRIC ASPECTS OF HUNTINGTON DISEASECASE REPORTS

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    Mirela Batta

    2004-04-01

    Full Text Available Background. Huntington disease occurrs rarely, it can be encountered not only by neurologists and psychiatrists but also by other medical practitioners. Its characteristic features are involuntary movements, cognitive disorders and gradual development of dementia. Diagnosis is given on the basis of these clinical features, positive familial anamnesis, with the laboratory exclusion of other neuropsychiatric diseases and with the help of neuroimaging methods (in particular NMR. The disease can be only confirmed by means of genetic analysis.Patients and methods. In this article, four cases of patients with Huntington disease and diverse psychiatric disorders that were hospitalised at the psychiatric department of the Maribor General Hospital between October 2002 and March 2003 are described. All the patients fulfilled the valid criteria for the diagnosis of Huntington disease. However, they differed according to their accompanying psychiatric psychopathology, age and social problems.Conclusions. The purpose of this article is to draw attention to different psychiatric symptoms and clinical manifestations of Huntington disease that are often misleading in the diagnostic process. In addition, exigency of early diagnostics, guidelines for referrals to genetic testing and psychiatric monitoring of these patients are emphasised.

  5. [Laparoscopic management of gastroesophageal reflux disease. Experience with 100 cases].

    Science.gov (United States)

    Bernal-Gómez, R; Olivares-Ontiveros, O; García-Vázquez, A; Silva-Sánchez, V; Noyola-Cedillo, S; Quezada-Salcedo, J E; Morales-Trejo, R M

    2001-01-01

    To evaluate the results of laparoscopic Nissen-Rossetti funduplication and to compare them with the results obtained in open surgery. Prospective, observational, longitudinal, pre and post-procedure. Beneficencia Española, Hospital Angeles, and Hospital Francisco Galindo Chávez, ISSSTE, in Torreón, Coahuila, Mexico. From December 1992 to February 1999, 100 patients with surgical indications due to gastroesophageal reflux disease (GERD) prospectively underwent a laparoscopic Nissen-Rossetti procedure. A clinical and endoscopic follow up from 3 months to 9 years was performed in 87 cases. Symptomatic control was achieved in 98% (85/87) of the cases and remission of overall endoscopic esophagitis in 79% (69/87); excluding Barrett cases, esophagitis remission was observed in 93% (67/72) of the subjects. The following recurrences took place: two with G-II and two with G-III esophagitis, one requiring pyloroplasty due gastric stasis, and other patient with G-IV esophagitis, who has needed to continue with postoperative dilations. Of 16 cases with Barrett's esophagus, two-showed remission and one did not return control. Perioperative complications included gastric perforations (3), acute pulmonary edema during the immediate postoperative period (1), deep vein thrombosis (1), and late esophageal perforation (1). All were resolved satisfactorily. Surgical mortality was 0 in the 100 cases undergoing the procedure. Eighty-six percent of cases had a 24-h hospital stay. Early morbidity: dysphagia in 60 patients, early satiety in 91 cases, abdominal distention in 25 cases, all this symptomatology disappears during the subsequent 3 months. Persistent morbidity: flatulence in 60% of patients, difficulty for vomiting in 10% of cases. The laparoscopic procedure is as effective as the open method with the advantage of being minimally invasive.

  6. [Complications of colonic diverticular disease during rheumatoid polyarthritis: 7 cases].

    Science.gov (United States)

    Durieux, S; Rozenberg, S; Bourgeois, P

    1999-01-01

    Among the gastrointestinal adverse effects of nonsteroidal anti-inflammatory drugs (NSAID) and corticoids are mentioned complications of colonic diverticular disease. However, very few studies have described their consequences in rheumatoid arthritis. We report on seven patients who were admitted in our department between 1984 and 1997. All patients received corticoids and another antirheumatic drug (gold salts, hydroxychloroquine, immunosuppressive drugs); treatment also included NSAID in four cases. Two patients had a necrotizing vasculitis accompanying rheumatoid arthritis. Intestinal accompanying diseases were the following: one diverticulitis, three colonic perforations with pelviperitonitis, one colovesical fistula, one pelvic abscess, and one diverticular hemorrhage. All patients underwent surgery with positive results. Combination of the four following symptoms: fever, abdominal pain, diarrhea, and hemorrhage, can uncover a complication of colónic diverticular disease occurring in the course of rheumatoid arthritis. It should be investigated, even if no history of diverculosis may be evidenced.

  7. Machado-Joseph disease versus hereditary spastic paraplegia: case report

    Directory of Open Access Journals (Sweden)

    Teive Hélio A. Ghizoni

    2001-01-01

    Full Text Available Machado-Joseph disease (MJD is the most common autosomal dominant spinocerebellar ataxia and presents great phenotypic variability. MJD presenting with spastic paraparesis was recently described in Japanese patients. We report the case of 41-year-old woman with the phenotype of complicated hereditary spastic paraplegia. Her father died at the age of 56 years due to an undiagnosed progressive neurological disease that presented parkinsonism. She had an expanded allele with 66 CAG repeats and a normal allele with 22 repeats in the gene of MJD. MJD should be considered in the differential diagnosis of autosomal dominant complicated HSP. A patient with the phenotype of complicated HSP and relatives with other clinical features of a neurodegenerative disease should raise the suspicion of MJD.

  8. Autoimmune diseases in a Nigerian woman--a case report.

    Science.gov (United States)

    Talabi, O A; Owolabi, M O; Osotimehin, B O

    2003-12-01

    Autoimmune diseases (AD) are conditions in which there is the development of antibodies against self cells/ organs. AD could either be organ-specific or non-organ specific (systemic) in clinical presentation. Commonly reported ADs includes: Myasthenia gravis, Hashimoto thyroiditis, Guillian-Barre syndrome, vitiligo, type 1 diabetes mellitus, Graves diseases, Goodpastures syndrome, pemphigus, rheumatoid arthritis, systemic lupus erythematosis, Addisons disease, multiple sclerosis, pernicious anaemia, autoimmune haemolytic anaemia, chronic active hepatitis, idiopathic thrombocytopenic purpura. There is paucity of locally documented information on the occurrence of AD in same patient in our environment. We therefore report the case of a 66 year old woman who presented at the University College Hospital (UCH), Ibadan, with a spectrum of the AD, Vitiligo, rheumatoid arthritis, myasthenia gravis, impaired glucose tolerance.

  9. Periodontal disease in a patient receiving Bevacizumab: a case report.

    Science.gov (United States)

    Gujral, Dorothy M; Bhattacharyya, Sanjeev; Hargreaves, Peter; Middleton, Gary W

    2008-02-13

    Bevacizumab is a monoclonal antibody that inhibits the action of vascular endothelial growth factor (VEGF) thereby acting as an angiogenesis inhibitor. As a result, supply of oxygen and nutrients to tissues is impaired and tumour cell growth is reduced. Reported side effects due to bevacizumab are hypertension and increased risk of bleeding. Bowel perforation has also been reported. Periodontal disease in patients on bevacizumab therapy has not been reported before. We report a case of a forty-three year old woman who developed periodontitis whilst receiving bevacizumab for lung cancer. The periodontal disease remained stable on discontinuation of the drug. Further investigations are needed to determine the mechanism for bevacizumab-induced periodontal disease.

  10. Moyamoya disease: report of three cases in Brazilian patients

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    FRANCO CLÉLIA MARIA RIBEIRO

    1999-01-01

    Full Text Available Moyamoya disease (MMD is a chronic occlusive cerebrovascular disease of unknown etiology reported mainly in the Japanese. Most cases occur in children. The disease is rare in non-Oriental adults manifesting itself mostly as intracerebral hemorrhages. We describe MMD in 2 non-Oriental young adults and one adolescent that developed cerebral infarctions. The adults were medicated with aspirin and no medication was given to the adolescent. All patients did not deteriorate in a follow-up period from 1 to 4 years. Although rare, MMD is an important cause of stroke in young individuals and may well be underreported: only 18 patients have been reported till 1997 in Brazil. Neurologists should include MMD in differential diagnosis of ischemic and hemorrhagic strokes in young adults.

  11. Monolobar Caroli's disease in an adult. Case report.

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    Giovanardi, Rafael Omar

    2003-01-01

    Caroli's disease is the dilatation of the segmental intrahepatic bile ducts which generally presents in a diffuse form, but may occasionally involve only a single lobe, commonly the left one. We report the case of a 64-year-old male who presented with a clinical picture of obstructive jaundice, with Caroli's disease in segments II and III of the liver. Preoperative diagnosis was made using abdominal ultrasound and computed tomography scan, confirmed by endoscopic retrograde cholangiopancreatography. The treatment used was segmentectomy II and III (left lobectomy--Couinaud's classification) of the liver. Macroscopic examination of the resected specimen revealed cystic dilatation of the intrahepatic bile ducts and intrahepatic lithiasis. Histologically there was no evidence of malignancy. Liver resection is the treatment of choice for Caroli's disease confined to a single lobe or segment, eliminating the potential for cholangitis, lithiasis and carcinoma.

  12. Orofacial Crohn’s disease: a Case Report

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    Budanur Damla Tuncer

    2017-07-01

    Full Text Available Background: Crohn’s disease (CD and ulcerative colitis (UC are the two major relapsing conditions of inflammatory bowel diseases. Case Report: A case of Crohn’s disease with orofacial manifestations in a 10 year old girl is described. She had suffered from fever, dysphagia, arthralgia, painful recurrent ulcers of the oral mucosa and swelling of the lower lip lasting over 6 weeks. Clinical examination and the punch biopsy from the buccal mucosa revealed major recurrent aphthous ulcerations. A partial regression and significant relief of lesions were achieved two weeks after the treatment, but the patient suffered from abdominal pain, irregular bowel movements, arthritis, multiple hyperplastic and swollen mucosal folds, after 3 months. The patient was referred to a pediatric gastroenterologist. Esophagogastroduodenoscopy showed pyloric ulcer formation. Abdominal ultrasound showed increased thickening of the ileal wall with multiple enlarged lympadenopathies in the periileal region. Colonoscopy images showed deep ulcers with surrounding erythema. The histopathological examination of biopsies from the terminal ileum and the colon showed basal plasmacytosis, minimal crypt distortions and aphthous ulcerations. The diagnosis of Orofacial Crohn’s disease was made. Exclusive enteral nutrition for 8 weeks, followed by azathiopurine treatment was started with an excellent clinical response on abdominal and oral symptoms. Conclusion: Diagnosis of the disease by dentists and other clinicians through the evaluation of oral clinical findings is very rare. Mucocutaneous and granulomatous lesions of the oral cavity should alert the clinician to pursue an underlying systemic cause. Early communication with a gastroenterologist can help early diagnosis of Crohn’s disease for better patient management and prognosis.

  13. Coronary arterial disease after electroconvulsive therapy: a case report

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    Nataly Pimentel Rodrigues

    2015-06-01

    Full Text Available Objectives Unipolar depression (UPD is a leading cause of global burden of diseases, particularly among the elderly, whose treatment may be challenging. In such cases, ECT is often recommended due to its safety and efficacy. This report presents a case of a 67-year-old male inpatient that developed a rare cardiac complication during ECT. Methods Clinical case report with patient’s consent and bibliographic review. Results A 67-year-old male inpatient with recurrent severe psychotic depression was hospitalized and ECT was indicated after failure of the pharmacological treatment. A comprehensive clinical pre-evaluation revealed only nonspecific ST-segment changes in electrocardiogram. During the 7th ECT session, it was observed transitory ST-segment depression followed by a discrete increase of plasma troponin I. Severe tri-vessel coronary artery stenosis was found and a percutaneous coronary angioplasty was performed, with satisfactory psychiatric and cardiac outcomes. Conclusions Unipolar depression (UPD and cardiovascular disease are often coexistent conditions, especially among the elderly. In the current case, myocardial ischemia was detected lately during ECT therapy and its treatment allowed the UPD treatment to be completed adequately.

  14. Whipple's disease. Report of five cases with different clinical features

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    FERRARI Maria de Lourdes de Abreu

    2001-01-01

    Full Text Available Whipple's disease (WD is a rare systemic disease of infectious etiology which involves the small intestine but can virtually affect any organ. We present here five cases (four males and one female ranging in age from 20 to 59 years. All patients had intestinal involvement associated or not with clinical manifestations linked to this organ. Vegetation in the tricuspid valve was observed in one patient, suggesting endocarditis caused by Tropheryma whippelii, with disappearance of the echocardiographic alterations after treatment. In one of the male patients the initial clinical manifestation was serologically negative spondylitis, with no diarrhea occurring at any time during follow-up. Ocular involvement associated with intestinal malabsorption and significant weight loss were observed in one case. In the other two cases, diarrhea was the major clinical manifestation. All patients were diagnosed by histological examination of the jejunal mucosa and, when indicated, of extraintestinal tissues by light and electron microscopy. After antibiotic treatment, full remission of symptoms occurred in all cases. A control examination of the intestinal mucosa performed after twelve months of treatment with sulfamethoxazole-trimethoprim revealed the disappearance of T. whippelii in four patients. The remaining patient was lost to follow-up.

  15. The first case of imported Borrelia miyamotoi disease concurrent with Lyme disease.

    Science.gov (United States)

    Oda, Rentaro; Kutsuna, Satoshi; Sekikawa, Yoshiyuki; Hongo, Igen; Sato, Kozue; Ohnishi, Makoto; Kawabata, Hiroki

    2017-05-01

    Borrelia miyamotoi disease (BMD) is an emerging infectious disease caused by B. miyamotoi. Although BMD has been reported in the United States, Europe, and Japan, no case of imported BMD has been described in the world. Here, we report a 63-year-old American man living in Japan who presented with malaise, headache, myalgia, and arthralgia. We suspected Lyme disease because of his travel history to Minnesota and presence of erythema migrans. Serologic analysis supported our diagnosis, and doxycycline was administered for 14 days. However, we also suspected coinfection with BMD because of his fever, elevated liver function test results and his travel history. The patient was seropositive for the immunoglobulin M antibody to recombinant glycerophosphodiester phosphodiesterase, and was diagnosed with coinfection with BMD. This case suggests that BMD should be considered in febrile travelers returning from the Northeastern and Midwestern regions of the United States, and that BMD and Lyme disease coinfection should be considered to detect cases of imported BMD. Copyright © 2017 Japanese Society of Chemotherapy and The Japanese Association for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  16. Clinical-histopathological correlation in a case of Coats' disease

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    Zajdenweber Moyses E

    2006-08-01

    Full Text Available Abstract Background Coats' disease is a non-hereditary ocular disease, with no systemic manifestation, first described by Coats in 1908. It occurs more commonly in children and has a clear male predominance. Most patients present clinically with unilateral decreased vision, strabismus or leukocoria. The most important differential diagnosis is unilateral retinoblastoma, which occurs in the same age group and has some overlapping clinical manifestations. Case presentation A 4 year-old girl presented with a blind and painful right eye. Ocular examination revealed neovascular glaucoma, cataract and posterior synechiae. Although viewing of the fundus was impossible, computed tomography disclosed total exsudative retinal detachment in the affected eye. The eye was enucleated and subsequent histopathological evaluation confirmed the diagnosis of Coats' disease. Conclusion General pathologists usually do not have the opportunity to receive and study specimens from patients with Coats' disease. Coats' disease is one of the most important differential diagnoses of retinoblastoma. Therefore, It is crucial for the pathologist to be familiar with the histopathological features of the former, and distinguish it from the latter.

  17. Pandemic Diseases and the Aviation Network SARS, a case study

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    Hufnagel, Lars; Brockmann, Dirk; Geisel, Theo

    2005-03-01

    We investigate the mechanisms of the worldwide spread of infectious diseases in a modern world in which humans travel on all scales. We introduce a probabilistic model which accounts for the worldwide spread of infectious diseases on the global aviation network. The analysis indicates that a forecast of the geographical spread of an epidemic is indeed possible, provided that local dynamical parameters of the disease such as the basic reproduction number are known. The model consists of local stochastic infection dynamics and stochastic transport of individuals on the worldwide aviation network which takes into account over 95% of the entire the national and international civil aviation traffic. Our simulations of the SARS outbreak are in surprisingly good agreement with published case reports. Despite the fact that the system is stochastic with a high number of degrees of freedom the outcome of a single simulation exhibits only a small magnitude of variability. We show that this is due to the strong heterogeneity of the network ranging from a few two over 25,000 passengers between nodes of the network. Thus, we propose that our model can be employed to predict the worldwide spread of future pandemic diseases and to identify endangered regions in advance. Based on the connectivity of the aviation network we evaluate the performance of different control strategies and show that a quick and focused reaction is essential to inhibit the global spread of infectious diseases.

  18. Some Factors Trigger Increasing Foodborne Diseases Cases of Livestock Origin

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    Anni Kusumaningsih

    2012-09-01

    Full Text Available Food is an essential need for various human body activities. Consequently, food must be guaranteed to be free from biological, chemical, and physical contaminants and other hazardous substances that can obstruct health. The presence of various hazardous contaminants in food may result in the appearance of foodborne diseases, i.e. human diseases spread through contaminated food and drinks. Biological contaminants in food can be bacteria, viruses, parasites, moulds, or fungi. The most dangerous biological contaminants that may cause an epidemic disease in human are pathogenic bacteria such as Salmonella spp., Escherichia coli, Bacillus anthracis, Clostridium spp., Listeria monocytogenes, Campylobacter spp., Vibrio cholerae, Enterobacter sakazakii, Shigella, etc. Researchers believe that there are several factors that can be the trigger that increase of foodborne diseases cases such as community demography by increasing the individual groups that are more susceptible to pathogenic foodborne infections, human behaviour related to the changes in the community life style and consumption, the advances in industrial and technological sectors through the increase of large scale food industries concentrated in one location, the global trade or travel, and increasing bacterial resistances against antimicrobials as the result of the increasing the uses of antimicrobials for disease prevention and cure in animals and humans.

  19. Two Legionnaires' disease cases associated with industrial waste water treatment plants: a case report

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    Putus Tuula

    2010-12-01

    Full Text Available Abstract Background Finnish and Swedish waste water systems used by the forest industry were found to be exceptionally heavily contaminated with legionellae in 2005. Case presentation We report two cases of severe pneumonia in employees working at two separate mills in Finland in 2006. Legionella serological and urinary antigen tests were used to diagnose Legionnaires' disease in the symptomatic employees, who had worked at, or close to, waste water treatment plants. Since the findings indicated a Legionella infection, the waste water and home water systems were studied in more detail. The antibody response and Legionella urinary antigen finding of Case A indicated that the infection had been caused by Legionella pneumophila serogroup 1. Case A had been exposed to legionellae while installing a pump into a post-clarification basin at the waste water treatment plant of mill A. Both the water and sludge in the basin contained high concentrations of Legionella pneumophila serogroup 1, in addition to serogroups 3 and 13. Case B was working 200 meters downwind from a waste water treatment plant, which had an active sludge basin and cooling towers. The antibody response indicated that his disease was due to Legionella pneumophila serogroup 2. The cooling tower was the only site at the waste water treatment plant yielding that serogroup, though water in the active sludge basin yielded abundant growth of Legionella pneumophila serogroup 5 and Legionella rubrilucens. Both workers recovered from the disease. Conclusion These are the first reported cases of Legionnaires' disease in Finland associated with industrial waste water systems.

  20. Lyme disease: case report of persistent Lyme disease from Pulaski County, Virginia

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    Palmieri JR

    2013-12-01

    Full Text Available James R Palmieri,1 Scott King,1 Matthew Case,1 Arben Santo21Department of Microbiology, Infectious and Emerging Diseases, 2Department of Pathology, Edward Via College of Osteopathic Medicine, Blacksburg, VA, USAAbstract: A 50-year-old woman from Pulaski, Virginia, presented to a local clinic with headaches, fever, generalized joint pain, excessive thirst and fluid intake, and a progressing rash on her back. On physical examination, she had a large circular red rash on her back with a bull's-eye appearance, 16 × 18 cm in diameter. Serologic tests confirmed a diagnosis of Lyme disease. The patient could recall a walk through the woods 3 weeks prior, although she never noticed a tick on her body. Following a prolonged course of antibiotics, this case report presents a patient with ongoing symptoms consistent with post-treatment Lyme disease.Keywords: arthritis, chronic Lyme disease (CLD, ELISA, erythema migrans, ixodid ticks, Lyme disease, post-treatment Lyme disease syndrome (PTLDS, Western blotting

  1. Possible Association of Cutaneous Rosai-Dorfman Disease and Chronic Crohn Disease A Case Series Report

    Science.gov (United States)

    Salva, Katrin A.; Stenstrom, Melissa; Breadon, Jonith Y.; Odland, Paul Blair; Bennett, Daniel; Longley, Jack; Wood, Gary S.

    2014-01-01

    IMPORTANCE Cutaneous Rosai-Dorfman disease (CRDD), a variant of Rosai-Dorfman disease limited to the skin, has a wide range of clinical presentations. Rosai-Dorfman disease is believed to result from an aberrant response to antigens, caused by immunosuppressive macrophages. Macrophage-mediated immunosuppression is also implicated in the pathogenesis of Crohn disease, linking these otherwise unrelated entities. To our knowledge, the coexistence of these disorders has been described in only 2 cases, 1 of them confined to the skin and soft tissue. OBSERVATIONS We present a series of 3 patients who developed purely CRDD in the context of long-standing Crohn disease. Statistical estimates suggested that the association of these 2 disorders is not due to chance (P Crohn disease. Crohn disease is frequently complicated by various skin manifestations, which may be mimicked by CRDD. Therefore, it may be prudent for clinicians to include CRDD in the list of differential diagnoses when examining skin lesions in patients with Crohn disease. PMID:24305684

  2. Possible association of cutaneous Rosai-Dorfman disease and chronic Crohn disease: a case series report.

    Science.gov (United States)

    Salva, Katrin A; Stenstrom, Melissa; Breadon, Jonith Y; Odland, Paul Blair; Bennett, Daniel; Longley, Jack; Wood, Gary S

    2014-02-01

    IMPORTANCE Cutaneous Rosai-Dorfman disease (CRDD), a variant of Rosai-Dorfman disease limited to the skin, has a wide range of clinical presentations. Rosai-Dorfman disease is believed to result from an aberrant response to antigens, caused by immunosuppressive macrophages. Macrophage-mediated immunosuppression is also implicated in the pathogenesis of Crohn disease, linking these otherwise unrelated entities. To our knowledge, the coexistence of these disorders has been described in only 2 cases, 1 of them confined to the skin and soft tissue. OBSERVATIONS We present a series of 3 patients who developed purely CRDD in the context of long-standing Crohn disease. Statistical estimates suggested that the association of these 2 disorders is not due to chance (PCrohn disease. Crohn disease is frequently complicated by various skin manifestations, which may be mimicked by CRDD. Therefore, it may be prudent for clinicians to include CRDD in the list of differential diagnoses when examining skin lesions in patients with Crohn disease.

  3. Caroli's disease. Report of 5 cases and review of literature.

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    Madjov, R; Chervenkov, P; Madjova, V; Balev, B

    2005-01-01

    In 1958 Caroli was the first to define exactly in literature the congenital dilatations of the intrahepatic bile ducts, concerning a segment, a lobe, or both lobes of the Liver. Later Todani involved it in his classification of the bile duct cysts as type V. Caroli's disease (CD) is quite a rare entity (about 150 cases reported in literature). In CD, stenosis and dilatation cause initially biliary stasis, leading to intrahepatic biliary lithiasis and secondary infection. The spontaneous course of CD is dominated by biliary infection: cholangitis (cholangiohepatitis), septicemia and intrahepatic and subphrenic abscesses. That is why the disease must be recognized before serious complications develop. The authors report about 5 cases of Caroli's disease--2 women and 3 men. Diffuse spread in one patient (25-year-old man) and in four--left lobe involved predominantly. Most common signs and symptoms were: fever, cholangitis, upper quadrant abdominal pain, hepatosplenomegaly, obstructive jaundice, Charcot's triad (in two). Importance for the exact diagnosis involves the use of ultrasonography (US), computer tomography (CT) scan, endoscopic cholangiopancreatography (ERCP), intraoperative cholangiography and cholangioscopy, allowing early diagnosis and therefore a better therapeutic and surgical approach.

  4. Genetic Polymorphisms of Infectious Diseases in Case-Control Studies

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    Antonio G. Pacheco

    2009-01-01

    Full Text Available In the past decade, genetic epidemiological analyses in infectious diseases have increased drastically since the publication of human genome and all the subsequent projects analyzing human diversity at molecular level. The great majority of studies use classical epidemiological designs applied to genetic data, and more than 80% of published studies use population-based case-control designs with widely spread genetic markers in human genome, like short tandem repeats (STR or single nucleotide polymorphisms (SNP, in genes chosen by their physiological association with the disease (candidate genes. Even though genetic data is less prone to several bias issues inherent to case-control studies, some care has to be taken when designing, performing, analyzing and interpreting results from such studies. Here we discuss some basic concepts of genetics and epidemiology as a departure to evaluate and review every step that should be followed to design, conduct, analyze, interpret and present data from those studies, using particularities of infectious diseases, especially leprosy and tuberculosis as models.

  5. [Clinical presentation of Moroccan cases with Alzheimer's disease].

    Science.gov (United States)

    El Kadmiri, N; Zaid, Y; Hamzi, K; Nadifi, S; Slassi, I; El Moutawakil, B

    2014-12-01

    The diagnostic approach for Alzheimer's disease is based on the presence of cerebral atrophy combined with the score of the mini-examination of the mental state. In this context, this study was conducted to assess the correlation between imaging and neuropsychological testing for cases of early-onset and late-onset Alzheimer's disease. Analysis of the clinical and paraclinical aspects of Moroccan cases with Alzheimer's disease. Seventeen sporadic cases and 8 family cases were seen at the memory clinic of the Neurology Department of the University of Casablanca Ibn Rochd Hospital. A family history was obtained through a clinical interview of the patient and a yes or no self-reporting questionnaire from the guardian or other family member. The disease was considered familial if at least one additional first degree relative suffered from early-onset AD-type dementia. All patients underwent standard somatic neurological examination, cognitive function assessment, brain imaging and laboratory tests. Written consent was obtained from the patients and their guardians prior to the study. In our study of 25 individuals, the observed mean age of AD patients was 64.52 ± 9.30 and we observed a slight female predominance (56% versus 44%). In addition, we found a prevalence of AD of approximately 20%, increasing with age, in the population below 60 years of age. Approximately half of our patients (48%) had a score lower than 10 and were affected by severe insanity, while 28% were affected by moderate severe insanity and 24% were light to moderately insane. Twenty-five patients underwent neuroimaging, 18 of whom were assessed by MRI, while 7 were assessed by CT. All patients had hippocampal atrophy, which progressed to affect others brain regions. The blood tests showed no abnormalities in the 25 enrolled AD cases. Age is undoubtedly the main risk factor for AD; this is also the true for our cases where advanced age was responsible for the exponential increase of the disease

  6. Novel Methods in Disease Biogeography: A Case Study with Heterosporosis.

    Science.gov (United States)

    Escobar, Luis E; Qiao, Huijie; Lee, Christine; Phelps, Nicholas B D

    2017-01-01

    Disease biogeography is currently a promising field to complement epidemiology, and ecological niche modeling theory and methods are a key component. Therefore, applying the concepts and tools from ecological niche modeling to disease biogeography and epidemiology will provide biologically sound and analytically robust descriptive and predictive analyses of disease distributions. As a case study, we explored the ecologically important fish disease Heterosporosis, a relatively poorly understood disease caused by the intracellular microsporidian parasite Heterosporis sutherlandae. We explored two novel ecological niche modeling methods, the minimum-volume ellipsoid (MVE) and the Marble algorithm, which were used to reconstruct the fundamental and the realized ecological niche of H. sutherlandae, respectively. Additionally, we assessed how the management of occurrence reports can impact the output of the models. Ecological niche models were able to reconstruct a proxy of the fundamental and realized niche for this aquatic parasite, identifying specific areas suitable for Heterosporosis. We found that the conceptual and methodological advances in ecological niche modeling provide accessible tools to update the current practices of spatial epidemiology. However, careful data curation and a detailed understanding of the algorithm employed are critical for a clear definition of the assumptions implicit in the modeling process and to ensure biologically sound forecasts. In this paper, we show how sensitive MVE is to the input data, while Marble algorithm may provide detailed forecasts with a minimum of parameters. We showed that exploring algorithms of different natures such as environmental clusters, climatic envelopes, and logistic regressions (e.g., Marble, MVE, and Maxent) provide different scenarios of potential distribution. Thus, no single algorithm should be used for disease mapping. Instead, different algorithms should be employed for a more informed and complete

  7. Comorbidities in rotator cuff disease: a case-control study.

    Science.gov (United States)

    Titchener, Andrew G; White, Jonathan J E; Hinchliffe, Sally R; Tambe, Amol A; Hubbard, Richard B; Clark, David I

    2014-09-01

    Rotator cuff disease is a common condition in the general population, but relatively little is known about its associated risk factors. We have undertaken a large case-control study using The Health Improvement Network database to assess and to quantify the relative contributions of some constitutional and environmental risk factors for rotator cuff disease in the community. Our data set included 5000 patients with rotator cuff disease who were individually matched with a single control by age, sex, and general practice (primary care practice). The median age at diagnosis was 55 years (interquartile range, 44-65 years). Multivariate analysis showed that the risk factors associated with rotator cuff disease were Achilles tendinitis (odds ratio [OR] = 1.78), trigger finger (OR = 1.99), lateral epicondylitis (OR = 1.71), and carpal tunnel syndrome (OR = 1.55). Oral corticosteroid therapy (OR = 2.03), oral antidiabetic use (OR = 1.66), insulin use (OR = 1.77), and "overweight" body mass index of 25.1 to 30 (OR = 1.15) were also significantly associated. Current or previous smoking history, body mass index of greater than 30, any alcohol intake, medial epicondylitis, de Quervain syndrome, cubital tunnel syndrome, and rheumatoid arthritis were not found to be associated with rotator cuff disease. We have identified a number of comorbidities and risk factors for rotator cuff disease. These include lateral epicondylitis, carpal tunnel syndrome, trigger finger, Achilles tendinitis, oral corticosteroid use, and diabetes mellitus. The findings should alert the clinician to comorbid pathologic processes and guide future research into the etiology of this condition. Copyright © 2014 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Mosby, Inc. All rights reserved.

  8. Novel Methods in Disease Biogeography: A Case Study with Heterosporosis

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    Luis E. Escobar

    2017-07-01

    Full Text Available Disease biogeography is currently a promising field to complement epidemiology, and ecological niche modeling theory and methods are a key component. Therefore, applying the concepts and tools from ecological niche modeling to disease biogeography and epidemiology will provide biologically sound and analytically robust descriptive and predictive analyses of disease distributions. As a case study, we explored the ecologically important fish disease Heterosporosis, a relatively poorly understood disease caused by the intracellular microsporidian parasite Heterosporis sutherlandae. We explored two novel ecological niche modeling methods, the minimum-volume ellipsoid (MVE and the Marble algorithm, which were used to reconstruct the fundamental and the realized ecological niche of H. sutherlandae, respectively. Additionally, we assessed how the management of occurrence reports can impact the output of the models. Ecological niche models were able to reconstruct a proxy of the fundamental and realized niche for this aquatic parasite, identifying specific areas suitable for Heterosporosis. We found that the conceptual and methodological advances in ecological niche modeling provide accessible tools to update the current practices of spatial epidemiology. However, careful data curation and a detailed understanding of the algorithm employed are critical for a clear definition of the assumptions implicit in the modeling process and to ensure biologically sound forecasts. In this paper, we show how sensitive MVE is to the input data, while Marble algorithm may provide detailed forecasts with a minimum of parameters. We showed that exploring algorithms of different natures such as environmental clusters, climatic envelopes, and logistic regressions (e.g., Marble, MVE, and Maxent provide different scenarios of potential distribution. Thus, no single algorithm should be used for disease mapping. Instead, different algorithms should be employed for a more

  9. Septated pericarditis associated with Kawasaki disease: a brief case report.

    Science.gov (United States)

    Sonçaği, Arzu; Devrim, Ilker; Karagöz, Tevfik; Dilber, Embiya; Celiker, Alpay; Ozen, Seza; Seçmeer, Gülten

    2007-01-01

    Kawasaki disease (KD) is primarily the systemic vasculitis of childhood that affects mainly the medium-sized arteries, such as the coronary arteries. KD is the leading cause of acquired heart disease, whereas the incidence of rheumatic fever has declined. The most serious complication is coronary artery involvement. Among the children with KD who developed cardiac complications, pericarditis is a rare complication, with an incidence of 0.07%. We report our experience in a 5.5-year-old child with KD complicated with aneurysm of the left anterior descendant coronary artery and septated pericardial effusion, which has not been reported in the literature. The pericardial effusion disappeared very dramatically with intravenous immunoglobulin (IVIG) therapy. We would like to point out that septated pericardial effusion in cases of KD do not need any further therapy other than IVIG and high-dose acetylsalicylic acid.

  10. [Horseshoe kidney, stone disease and prostate cancer: a case presentation].

    Science.gov (United States)

    Hermida Pérez, J A; Bermejo Hernández, A; Hernández Guerra, J S; Sobenes Gutierrez, R J

    2013-01-01

    The horseshoe kidney is the most common congenital renal fusion anomalies. It occurs in 0.25% of the population, or 1 in every 400 people. It is more frequent in males (ratio 2:1). The most observed complication of horseshoe kidney is stone disease, although there may be others such as, abdominal pain, urinary infections, haematuria, hydronephrosis, trauma and tumours (most commonly associated with hypernephroma and Wilms tumour). We describe a case of a male patient with horseshoe kidney, stone disease and adenocarcinoma of the prostate. One carrier of this condition who suffered a transitional cell carcinoma of the prostate was found in a review of the literature. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  11. Cushing's disease: diagnosis through the nose. A case report.

    Science.gov (United States)

    Unuane, D; D'Haens, J; Van Rompaey, K; Halewyck, S; Poppe, K; Velkeniers, B

    2012-01-01

    In Cushing's disease clinical symptoms are usually related to the ACTH hypersecretion. On diagnosis these secreting tumours tend to be small due to their ability to reach clinical detection early. However, symptoms may also be caused by mass-related effects such as the depression of secretion of other pituitary hormones. Furthermore growth related symptoms may occur due to the invasion of the suprasellar region with compression of the visual system. As we illustrate in a case report, when spreading of pituitary adenoma occurs to the infrasellar region, Cushing disease may manifest itself by rather atypical initial symptoms that are more related to ear-nose-throat (ENT) complaints. In these invasive macro adenomas multimodal therapy is usually required to achieve control of hypersecretion and mass related symptoms.

  12. Scurvy disease in a young Sicilian man: a case report

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    G. Nicolosi

    2013-05-01

    Full Text Available BACKGROUND Scurvy disease is a condition due to deficiency of ascorbid acid (vitamin C and it is characterized by weakness, anemia, appearance of mucocutaneous hemorrhages and induration of muscles in the legs. We report a case of a young man living in the island of Sicily, Italy. CASE REPORT A 17 years old man was admitted to our hospital for the appearance of diffused cutaneous manifestations. Cause the perception of being overweight, he began autonomously a diet and he didn’t take any fruit or vegetables for several months. At admission we observed the presence of severe muscular hypotrophy associated to hematomas subcutaneous of thorax, trunk and legs. Blood examination showed a mild anemia and the reduction of serum proteins. Coagulation patterns and electrocardiography were normal. Tomography showed the presence of pericardial and pelvic effusion. Transthoracic echocardiography revealed the reduction in wall thickness and a moderate anterior and posterior pericardial effusion with normal systolic and diastolic function. The blood level of vitamin C was considerably lower than normal range. Definitive diagnosis was “scurvy disease”. We start treatment with ascorbic acid at maximum dose combined with hypercaloric diet. Cutaneous lesions resolved in two weeks. After five months, with normalization of ascorbic acid level and complete disappearance of cutaneous manifestations, we repeated echocardiography showing a significantly increasing left ventricular wall thickness and the reduction in pericardial effusion. CONCLUSIONS Scurvy disease is extremely rare in Sicily where citrus fruit cultivations are extensive and typical of the island. Scurvy disease is historically linked to the era of great maritime expeditions, but it still occurs in developed countries and re-emerging in Western countries. In this case we observed a combination of cutaneous and cardiac findings probably due to combined malnutrition and vitamin C deficiency.

  13. Danon disease: A case report and literature overview

    Directory of Open Access Journals (Sweden)

    Ćatović Suad

    2007-01-01

    Full Text Available Danon disease, a rare glycogen storage disease, is a dominant X-linked disorder. It is due to mutation in gene for lysosome-associated membrane protein 2 (LAMP 2. The LAMP 2 gene is located on Xq24, and its mutation causes primary deficiency of LAMP 2 and myocyte hypertrophy by accumulations of vacuoles containing glycogen. Danon disease is clinically characterized by the triad of hypertrophic cardiomyopathy (HCM, proximal myopathy and mental retardation. Myopathy and mental retardation can be absent, and cardiomyopathy is usually hypertrophic. This is a case report of the patient with genetically confirmed Danon disease and mixed cardiomyopathy, but without myopathy and mental retardation. ECG showed typical Wolff-Parkinson-White (WPW pattern while echocardiography demonstrated hypertrophy and dilatation of all cardiac chambers with impaired systolic and diastolic function. Male sex, early onset of symptoms, massive hypertrophy of the myocardium and ventricular preexcitation indicate a genetic basis for HCM. Therapeutic measures, except heart transplantation, do not improve prognosis substantially. Only an accurate diagnosis in patients with unexplained HCM helps in establishing of the appropriate treatment strategies and adequate genetic consultation. .

  14. [Wilson disease. A case report and review of the literature].

    Science.gov (United States)

    Alva-Moncayo, Edith; Castro-Tarín, María; González-Serrano, Adolfo

    2011-01-01

    Wilson disease is a problem of cuprum metabolism, with recesive autosomic hereditary transmission and a prevalence of one in 30,000 habitants. The cuprum is deposit in a progressive and irreversible way in the liver and encephalus and it is not liberated with quelant treatment. Neurological manifestations are tremor, disartria, extrapiramidal manifestations or distonia. Ophthalmic exploration shows corneal limb with sign of Kayser-Fleischer. a 15-year-old masculine patient with previous hepatitis outbreak in two times. During the last year he presented distonia, bradicinecious, stiffness and indifference with ictericia. Ophthalmological examination reported Kayser-Fleisher rings. Magnetic resonance of brain showed high dense images in lenticular, pallidus globe and caudate nucleus suggestive of Wilson disease. Ceruloplasmin concentration, cuprum in the liver biopsy confirmed the diagnosis. the importance of the case was the hepatic initial manifestations and two years after presented with inexpressive face, and it was considered a psychiatric disease, but the neurological evaluation and the liver biopsy confirmed the diagnosis of Wilson disease.

  15. Case Report: Infectious Diseases in Pilgrims Visiting the Holy Land.

    Science.gov (United States)

    Nitzan, Orna; Blum, Arnon; Marva, Esther; Katz, Adina; Tzadok, Bat-Sheva; Nachum-Biala, Yaarit; Baneth, Gad; Peretz, Avi

    2017-08-01

    Every year Christian pilgrims from around the world visit the holy sites located around the Sea of Galilee. Some become ill during their stay with infectious diseases that were acquired in their country of origin, and are hospitalized at Poriya Medical Center. They pose a diagnostic challenge due to language barriers, the rarity of these infections in Israel, and the fact that diagnostic tests are not readily available. All patient records from 2015 of Holy Land tourists hospitalized at Poriya Medical Center were screened for the diagnosis of imported zoonotic diseases that are not commonly diagnosed in Israel. Three patients who were on a Holy Land tour were hospitalized during 2015 with laboratory-confirmed diagnostically challenging zoonotic infectious diseases: a 91-year-old priest from Ethiopia diagnosed with relapsing fever due to Borrelia recurrentis, an 85-year-old retired mountaineer from New Hampshire diagnosed with human granulocytic anaplasmosis, and a 57-year-old farmer from central Brazil diagnosed with leptospirosis. These case reports emphasize the importance of considering imported zoonotic infectious diseases and obtaining appropriate diagnostic tests when treating Holy Land travelers to Israel.

  16. Infectious dental diseases in patients with coronary artery disease: an orthopantomographic case-control study.

    Science.gov (United States)

    Oikarinen, Kyosti; Zubaid, Mohammad; Thalib, Lukman; Soikkonen, Kari; Rashed, Wafa; Lie, Tryggve

    2009-02-01

    To investigate a potential association between coronary artery disease (CAD) and a variety of radiographically detectable infectious dental diseases, a hospital-based prospective case-control study was conducted in Kuwait. Eighty-eight consecutive patients with a first attack of unstable angina pectoris or acute myocardial infarction were enrolled as cases and were matched on the basis of age, sex and nationality with control patients who were known not to have CAD. The severity and extent of periodontal bone loss and other radiographic signs of infection in both cases and controls were analyzed with orthopantomograms. More cases than controls had teeth needing extraction (p = 0.043), periapical lesions (p = 0.028), molars with furcation lesions (p or = 6 mm (p = 0.001) and teeth with angular (vertical) bone loss (p periodontitis (p lesions (p = 0.008). In summary, there was a significant association between radiographically diagnosed periodontal diseases and CAD. These results should not be regarded as indicating a causal relationship, especially given that the diagnosis of periodontitis was based only on a radiographic examination. The true impact of oral infections on CAD should be examined in a large prospective clinical and interventional study.

  17. Infantile refsum disease with enamel defects: a case report.

    Science.gov (United States)

    Tran, Dorothy; Greenhill, William; Wilson, Stephen

    2011-01-01

    The purpose of this paper was to present the case of a 15-year-old female diagnosed with infantile Refsum disease (IRD) that presented with generalized enamel defects in the primary and permanent dentition. IRD is an inherited autosomal recessive disorder characterized by aberrant peroxisome function. IRD patients present with multiple clinical manifestations, including: retinitis pigmentosa; nystagmus; sensorineural hearing loss; mental and developmental delays; neuromotor defects; and cerebral ataxia. Craniofacial abnormalities reported include: high forehead; hypoplastic supraorbital ridges; epicanthal folds; midface hypoplasia; and large anterior fontanelle. At present, there is only one known report of dental anomaly associated with this syndrome. This represents the first known reported case in the pediatric dental literature.

  18. Hidradenitis Suppurativa and Crohn’s Disease: A Case Series

    LENUS (Irish Health Repository)

    Kirthi, S

    2017-09-01

    Hidradenitis Suppurativa (HS) is characterized by chronic recurrent abscesses, nodules and draining sinus tracts with scar formation. Cutaneous Crohn’s Disease (CD) may also present similarly. We wished to identify and describe an Irish cohort with combined HS and CD, with a view to a better recognition of clinical manifestations and understanding of the pathophysiology underlying these two overlapping conditions. Cases were identified using the HIPE Code at Tallaght Hospital from 1990-2014 and retrospective review was performed. Seven patients with both HS and CD were identified, 5(71%) female. The median age of diagnosis with both conditions was 37 years. In all cases, CD had preceded the diagnosis of HS. All patients smoked. Six had an increased BMI and 43% had additional autoimmune conditions. All patients required treatment with a TNF-alpha inhibitor for HS with 5 of 6 subjects having reduced frequency of flare ups and clinically less active HS on follow up

  19. Silicotuberculosis and silicosis as occupational diseases: Report of two cases

    Directory of Open Access Journals (Sweden)

    Milovanović Aleksandar

    2011-01-01

    Full Text Available Introduction. Silicosis, the most prevalent of the pneumoconioses, is caused by inhalation of crystalline silica particles. Silica-exposed workers are at increased risk for tuberculosis and other mycobacterium-related diseases. The risk of a patient with silicosis developing tuberculosis is higher (2.8 to 39 fold higher, depending on the severity of silicosis than that found in healthy controls. Outline of Cases. The first patient was a 52-year-old male who was admitted in 2002 for the second time with dyspnoea, wheezing and fatigue over the last 11 years. He had worked in an iron smelting factory and was exposed to silica dust for 20 years. First hospitalization chest radiography showed bilateral pleural adhesions, diffuse lung fibrosis with signs of a specific lung process. Second hospitalization chest radiography showed bilateral massive irregular, non-homogenous calcified changes in the upper and middle parts of lungs. The patient died due to respiratory failure and chronic pulmonary heart in 2007. The main causes of his death were silicotuberculosis and chronic obstructive pulmonary disease. The second patient was a 50-year-old male who was admitted in 2005 for the second time with chest tightness, dyspnoea, wheezing and fatigue over the last 10 years. He had worked in an iron smelting factory and was exposed to silica dust for 30 years. First hospitalization chest radiography showed diffuse lung fibrosis and small nodular opacities. The patient was diagnosed with silicosis, small opacities sized level p/q, and profusion level 2/3. Second hospitalization chest radiography and CT showed diffuse lung fibrosis and small nodular opacities predominantly in the upper lobes. The patient was recognized as having an occupational disease, and received early retirement due to disability. Conclusion. In low-income countries, new cases of silicosis and associated lung cancer, chronic obstructive pulmonary disease and tuberculosis are likely to be seen

  20. [A Forensic Autopsy Case Applied for Asbestos-Related Disease].

    Science.gov (United States)

    Makihara, Kosuke; Hamada, Tetsuo; Kasai, Kentaro; Tanaka, Toshiko; Sato, Hiroaki

    2016-03-01

    We had a forensic autopsy case that required additive pathological examination for the asbestos-related lung disease compensatory application afterwards. A man in his sixties with a history of occupational asbestos inhalation who had neither visited a hospital nor received a physical examination received forensic autopsy because of his death from unknown cause. An inmate said, "He developed cough and dyspnea, and died in the progression of the symptoms." The autopsy revealed widespread pleural plaques on both sides of the parietal pleura and multiple tumors in both sides of the lungs. The cause of death was diagnosed as lung cancer. Additional pathological examination was asked by his family to certify that he had suffered from asbestos-related lung disease in order to apply to the Asbestos-related Damage Relief Law. The Japanese criteria of the compensation law of asbestos-related lung cancer is the detection of more than 5,000 asbestos bodies per gram of dry lung tissue, while his number of asbestos bodies was 4,860. Asbestos bodies were reported to be accumulated in the distal lung parenchyma with no pathological changes. The present lung samples were collected from proximal section around the tumor, which might have made the number of asbestos bodies less than the criteria. Both the number of patients suffering from asbestos-related lung disease and the number of forensic autopsy cases have increased in Japan. Collecting lung samples from the appropriate lung section is essential and should be noted when the lung cancer is suspected at forensic autopsy in order to apply for asbestos-related lung disease compensation.

  1. Christmas Disease (Hemophilia –B – A Case Report

    Directory of Open Access Journals (Sweden)

    Md Rafiqul Alam

    2010-04-01

    Full Text Available We report a 25 years old man developed Haemarthrosis of left hip joint with a history of recurrent swelling and pain in multiple joints and prolonged bleeding following minor trauma since childhood. Subsequent investigations revealed Christmas disease (Haemophilia B. Hemophilia B is an X-linked bleeding disorder. This case emphasises the importance of considering a diagnosis of haemophilia in a man with unexplained bleeding, even in the absence of a positive family history. DOI: 10.3329/bsmmuj.v2i2.4766 BSMMU J 2009; 2(2: 90-91

  2. Case Report: Giant Right Atrium in Rheumatic Mitral Disease

    Directory of Open Access Journals (Sweden)

    Deniz Demir

    2014-06-01

    Full Text Available Dilation and hypertrophy of the atria occur in patients with valvular heart disease especially in mitral regurgitation, mitral stenosis or tricuspid abnormalities. Dilatation of the atriums which occurs slowly in time, becomes evident with ritim disturbances and embolic events. We report a case of an unusual giant right atrium in context of rheumatic mitral stenosis, mitral regurgitation, pulmonar hypertansion and severe tricuspid regurgitation in a 40-year-old man who underwent succesfull operations as mitral valve replacement, Maze-IV radiofrequency ablation, right atrium atrioplasty and De Vega anuloplasty. [J Contemp Med 2014; 4(2.000: 98-102

  3. Treatment of alzheimer disease with CT scans - a case report

    Energy Technology Data Exchange (ETDEWEB)

    Cuttler, J.M. [Cuttler & Associates Inc., Vaughan, Ontario (Canada); Moore, E.R. [Dow Chemical Co., Midland, MI (United States); Hosfeld, V.D. [MidMichigan Health, Midland, MI (United States); Nadolski, D.L. [Midland Internal Medicine Associates PC, Midland, MI (United States)

    2016-03-15

    Alzheimer disease (AD) primarily affects older adults. This neurodegenerative disorder is the most common cause of dementia and is a leading source of their morbidity and mortality. U.S. patient care costs are about 200 billion dollars and will more than double by 2040. This case report describes the remarkable improvement of an advanced AD patient in hospice, who received five CT scans of the brain, about 40 mGy each, over a period of three months. The mechanism appears to be radiation-induced up-regulation of the patient's adaptive protection systems against AD, which partially restored cognition, memory, speech, movement, and appetite. (author)

  4. A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report

    Science.gov (United States)

    Erol, Meltem; Gayret, Ozlem Bostan; Yigit, Ozgul; Serefoglu Cabuk, Kubra; Toksoz, Mehmet; Tiras, Mahir

    2016-01-01

    Introduction Homocystinuria is a hereditary disease caused by a defect in the enzymes involved in metabolizing methionine. Homocystinuria can influence many systems and may be mistaken for other diseases, including Moyamoya disease. Here, we report the case of a 10-year-old male patient with a diagnosis of Moyamoya disease who had been monitored for that for an extended period. The patient’s diagnosis was changed to homocystinuria as a result of lens subluxation and cataract findings. Case Presentation A 10-year-old male patient presented with vomiting, headache, lethargy, muscular weakness, and eye redness. The patient was mentally retarded, his right pupil was hyperemic, and he had muscle weakness on his left side. In addition, his blood pressure was high. The patient’s history included a diagnosis of Moyamoya. A neck and cranial computed tomography (CT) angiography showed no flow bilaterally past the bifurcation of the carotid artery. The patient’s bilateral internal carotid arteries were determined to be occluded. It was considered that his eye findings could be compatible with a metabolic disease. On metabolic screening, the patient’s homocysteine level was very high. In addition, a heterozygous A1298C mutation was identified in MTHFR. Therefore, the patient was started on a diet free from homocysteine and methionine. In addition, his treatment regimen included vitamins B12 and B6. With these treatments, the patient’s complications regressed. Conclusions In cases of unusual vascular lesions, metabolic diseases must be considered. In homocystinuria, early diagnosis and treatment are important. Blood homocysteine levels can be returned to normal, and some complications can be prevented. PMID:27330833

  5. Subclinical atherosclerotic vascular disease in chronic obstructive pulmonary disease: Prospective hospital-based case control study

    Directory of Open Access Journals (Sweden)

    Sandip Chindhi

    2015-01-01

    Full Text Available Introduction: Chronic obstructive pulmonary disease (COPD is an important non-communicable disease worldwide with a rising global incidence. COPD is associated with multiple co-morbidities. Patients with COPD are at increased risk of atherosclerosis and other cardiovascular events. Cardiovascular diseases are an important cause of morbidity and mortality in COPD. The present case-control study was designed to assess the relationship between sub-clinical atherosclerotic vascular diseases with COPD. Methods: It was a prospective case-control blinded observational study. There were 142 COPD patients and 124 age-and sex-matched controls without COPD and cardiovascular diseases. Frequency of sub-clinical atherosclerosis was assessed by the carotid B-mode duplex ultrasonography assessment of carotid wall intima medial thickness (IMT. Plaque was defined as IMT of more than 1.2 mm. Results: Prevalence of carotid plaqing was significantly higher amongst patients of COPD (38.7% compared to controls (13.7% , odds ratio 3.9, P < 0.0001. Multinomial logistic regression analysis revealed COPD as an independent predictor of carotid plaqing (r = 0.85, P < 0.023. Conclusion: The frequency of carotid plaqing is high in COPD patients. Carotid plaqing may be due to shared risk factors or the presence of low-grade systemic inflammation. Presence of increased CIMT and carotid plaqing in COPD patients identifies early atherosclerotic changes and future cardiovascular risk. Hence screening of CIMT should be a part of cardiovascular assessment in patients with COPD.

  6. An Unexpected Case of Lyme Disease in a Soldier Serving in Northern Iraq

    Science.gov (United States)

    2010-05-01

    MILITARY MEDICINE, 175,5:367,2010 An Unexpected Case of Lyme Disease in a Soldier Serving in Northern Iraq CPT Jeremy B. Fisher, SP USA *; CPT...Christopher E. Curtis, MC USAt 188143 ABSTRACT Lyme disease is a tick-transmitted disease caused by the spirochete Borrelia burgdorferi. Cases have been...Turkey.3-S We report an unexpected case of Lyme disease from Iraq. CASE REPORT A 28-year-old active duty Army male, on a deployment to northern Iraq

  7. Lyme disease: case report of persistent Lyme disease from Pulaski County, Virginia.

    Science.gov (United States)

    Palmieri, James R; King, Scott; Case, Matthew; Santo, Arben

    2013-01-01

    A 50-year-old woman from Pulaski, Virginia, presented to a local clinic with headaches, fever, generalized joint pain, excessive thirst and fluid intake, and a progressing rash on her back. On physical examination, she had a large circular red rash on her back with a bull's-eye appearance, 16 × 18 cm in diameter. Serologic tests confirmed a diagnosis of Lyme disease. The patient could recall a walk through the woods 3 weeks prior, although she never noticed a tick on her body. Following a prolonged course of antibiotics, this case report presents a patient with ongoing symptoms consistent with post-treatment Lyme disease.

  8. CASE REPORT CASE CASE R The many faces of hydatid disease

    African Journals Online (AJOL)

    as vertebrae, pleura and soft tissues.3 If this lesion breaks through the cortical portion of the rib, it produces a soft tissue mass.4 The posterior ends of the ribs are most commonly involved in costal echinococcosis. Cysts grow along the long axis of the rib, causing expansion of the cortex. The many faces of hydatid disease.

  9. Familial polycystic kidney disease in Nigeria: A report of two cases ...

    African Journals Online (AJOL)

    A case of familial polycystic kidney disease is reported. Although isolated cases of adult polycystic kidney disease have been reported in our environment, no case to our knowledge has been reported with a familial link. Polycystic kidney disease is said to be rare in Africans. Although it commonly terminates in chronic renal ...

  10. Paget's disease of the vulva: A review of 89 cases

    Directory of Open Access Journals (Sweden)

    Cherry O. Onaiwu

    2017-02-01

    Full Text Available The purpose of this study was to retrospectively review the clinical characteristics and outcomes of a series of women with Paget's disease of the vulva. A retrospective review was performed of 89 women with Paget's disease of the vulva evaluated at a single institution between 1966 and 2010. Medical records were reviewed for demographic information, clinical data, pathologic findings, treatment modalities and outcomes. We found that the primary treatment was surgery for 74 (83.1% patients, with positive margins noted in 70.1% of cases. Five patients (5.6% underwent topical treatment with imiquimod and/or 5-fluorouracil, one patient (1.1% underwent laser ablation and treatment was unknown in 9 patients (10.1%. The majority of patients had multiple recurrences, with 18% having four or more recurrences. There were no significant differences in recurrence rates between patients who underwent surgery and those who did not. Furthermore, there was no association between positive margins following primary surgery and recurrence. Forty-one patients (46.1% were diagnosed with 53 synchronous or metachronous cancers. Seven patients (7.9% were found to have invasive vulvar cancer with 1 mm or more depth of invasion, but none of the patients died of Paget's disease or associated vulvar/vaginal cancer. Our findings suggest that the majority of patients with Paget's disease of the vulva develop multiple recurrences regardless of treatment modality or margin status. Alternatives to surgery are needed to better care for women with this disease.

  11. Hypertensive/Microvascular Disease and COPD: a Case Control Study

    Directory of Open Access Journals (Sweden)

    Sky KH Chew

    2016-01-01

    Full Text Available Background/Aims: This study tested the hypothesis that individuals with chronic obstructive pulmonary disease (COPD have more small vessel disease and more severe disease than an age- and gender- matched hospital patient comparison group. Methods: This was a single centre, case-control study of 151 individuals with COPD (FEV1/VC Results: Patients with COPD had more microvascular retinopathy (121, 80% and 76, 50%; OR 3.98, 95%CI 2.39 to 6.64 and more severe disease (42, 28% and 18, 12%; OR 2.85, 95% CI 1.55 to 5.23 than other hospital patients. COPD remained an independent determinant of microvascular retinopathy (OR 4.56, 95%CI 2.49 to 8.36 after adjusting for gender, hypertension, smoking, and diabetes duration. Retinal arterioles and venules were wider in patients with COPD than other hospital patients (mean difference +6.5µm, 95% confidence interval 1.4 to 11.6; and +17.4µm, 95%CI 9.4 to 25.5, respectively. Larger venules were more common in younger individuals (+0.6 µm, 0.1 to 1.17 with more cigarette exposure (+0.3 µm, 0.2 to 0.5 or a lower serum albumin (+23.0 µm, 6.0 to 40.0. Venular calibre was not different in current and former smokers (p=0.77. There were trends for venules to be larger with more severe COPD (lower FEV1/VC, p=0.09 and with CT-demonstrated emphysema (p=0.06. Conclusions: Hypertensive/microvascular disease is more common and more severe in patients with COPD. This is likely to contribute to the associated increase in cardiac risk.

  12. [Three Cases of Moyamoya Disease with a History of Kawasaki Disease].

    Science.gov (United States)

    Kawasaki, Toshinari; Arakawa, Yoshiki; Sugino, Toshiya; Mitsuhara, Takafumi; Funaki, Takeshi; Kikuchi, Takayuki; Koyanagi, Masaomi; Yoshida, Kazumichi; Kunieda, Takeharu; Takahashi, Jun C; Takagi, Yasushi; Miyamoto, Susumu

    2015-11-01

    Here, we report three cases of moyamoya disease with a history of Kawasaki disease. A 33-year-old man was found to have stenotic lesions of the internal carotid arteries(ICAs)on both sides at a nearby hospital where he visited complaining of headache and lisping. He had received immunoglobulin therapy for Kawasaki disease at the ages of 1, 2, and 6 years. MRI showed only a chronic ischemic lesion in the white matter. Angiography showed occlusion at the terminal portion of the ICAs on both sides. He was diagnosed with moyamoya disease, but as he had no symptoms and preserved cerebral blood flow (CBF), he was kept under observation. An 8-year-old boy was diagnosed with moyamoya disease and underwent right encephaloduroarteriosynangiosis at a nearby hospital. He had received immunoglobulin therapy for Kawasaki disease at the age of 1 year. His ischemic symptoms worsened. Although MRI detected no apparent ischemic lesion, angiography revealed severe stenosis at the terminal portions of the ICAs on both sides, and 123I-IMP SPECT showed CBF impairment. Bilateral direct bypass was performed. His father was subsequently also diagnosed with moyamoya disease. A 4-year-old girl with epilepsy was diagnosed with moyamoya disease at a nearby hospital. She had been treated with aspirin for Kawasaki disease at the age of 1 year. MRI detected no remarkable ischemic lesions, but angiography revealed mild stenosis at the terminal portions of the ICAs on both sides. Five months later, her ischemic symptoms were worsening with progressing stenotic lesions, and she underwent bilateral direct bypass.

  13. HETEROTOPIC OSSIFICATION OF HIP IN A RARE CASE OF MOYAMOYA DISEASE: A RARE CASE REPORT

    Directory of Open Access Journals (Sweden)

    Anita

    2015-04-01

    Full Text Available A case of extensive ossification around the left hip joint involving lesser trochanter of the femur leading to ankylosis of left hip joint in a 60 years male is being reported. The diagnosis of moyamoya disease was made , which is a rare form of occlusive cerebrovasc ular disorder. Occlusion of an artery may present with Transient Ischemic Attacks , headaches , stroke and seizures. Surgical management is the only option in these cases. This 60 years male had an acute onset hemiplegia 4 ½ years back and at present came wit h complaints of pain and swelling over the left hip. Surgical excision was done and histopathological examination revealed extensive ossification of skeletal muscle. A diagnosis of Moyamoya disease complicated with heterotopic ossification was made. There was no recurrence after 8 months of follow up.

  14. Magnetic resonance imaging in prostate disease. Review of 58 cases

    Energy Technology Data Exchange (ETDEWEB)

    Gevenois, P.A.; Van Regemorter, G.; Van Gansbeke, D.; Delcour, C.; Corbusier, A.; Struyven, J.

    1987-03-01

    Forty-eight patients with prostatic disease (benign prostatic hyperplasia (B.P.H.), carcinoma, cysts, myoma and prostatitis) and 10 normal volunteers underwent magnetic resonance imaging (M.R.I) of the prostate. The prostatic parenchyma was best evaluated by a T2-weighted spin-echo pulse sequence. The prostate in patients with B.P.H. often had an homogeneous or more rarely a nodular appearance on T2-weighted images. In most cases, a peripheral dark rim is observed. All prostate in patients with carcinoma had an heterogeneous appearance on T2-weighted images. While most of the prostatic carcinomas appeared hypointense relative to adjacent prostatic parenchyma, some of the neoplasms had a high or mixed-high and low signal. The myoma showed a low-signal nodule like carcinoma. The cyst appears as a liquid tumor. The prostatitis had an homogeneous bright signal. With the used methodology, MRI can differentiate prostatic diseases in many cases. Nevertheless the technique has to be optimalized to improve its accuracy.

  15. Case Report: Clinical Features of a Case of Suspected Borrelia miyamotoi Disease in Hokkaido, Japan.

    Science.gov (United States)

    Yamano, Kimiaki; Ito, Takuya; Kiyanagi, Kaori; Yamazaki, Hirotaka; Sugawara, Mutsubu; Saito, Takashige; Ohashi, Norio; Zamoto-Niikura, Aya; Sato, Kozue; Kawabata, Hiroki

    2017-07-01

    We herein report a case of suspected Borrelia miyamotoi disease in Hokkaido, Japan. The patient complained of lassitude, arthralgia, and high fever after a tick bite. Furthermore, at the time of consultation, the patient exhibited momentary loss of consciousness and low blood pressure. Laboratory tests revealed elevation of liver enzymes, thrombocytopenia, and increased C-reactive protein. Seroconversion to B. miyamotoi glycerophosphoryl diester phosphodiesterase antigen suggested the patient was infected with a relapsing fever group Borrelia species.

  16. Lyme disease: case report of persistent Lyme disease from Pulaski County, Virginia

    OpenAIRE

    Palmieri JR; King S; Case M; Santo A

    2013-01-01

    James R Palmieri,1 Scott King,1 Matthew Case,1 Arben Santo21Department of Microbiology, Infectious and Emerging Diseases, 2Department of Pathology, Edward Via College of Osteopathic Medicine, Blacksburg, VA, USAAbstract: A 50-year-old woman from Pulaski, Virginia, presented to a local clinic with headaches, fever, generalized joint pain, excessive thirst and fluid intake, and a progressing rash on her back. On physical examination, she had a large circular red rash on her back with a bull&...

  17. Orbital lymphoma associated with Graves’ disease: A case report

    Directory of Open Access Journals (Sweden)

    Hajduković Zoran

    2014-01-01

    Full Text Available Introduction. The presence of bilateral exophthalmos and palpebral, periorbital edema associated with hyperthyroidism is most often considered as an initial sign of Graves’ ophthalmopathy. However, in up to 20% of cases, Graves’ ophthalmopathy might precede the occurrence of hyperthyroidism, which is very important to be considered in the differential diagnosis, especially if it is stated as unilateral. Among other less common causes of non-thyroid-related orbitopathy, orbital lymphoma represents rare conditions. We presented of a patient with Graves’ disease, initially manifested as bilateral orbitopathy and progressive unilateral exophthalmos caused by the marginal zone B-cell non-Hodgkin lymphoma of the orbit. Case report. A 64-yearold man with the 3-year history of bilateral Graves’ orbitopathy and hyperthyroidism underwent the left orbital decompression surgery due to the predominantly left, unilateral worsening of exophthalmos resistant to the previously applied glucocorticoid therapy. A year after the surgical treatment, a substantial exophthalmos of the left eye was again observed, signifying that other non-thyroid pathology could be involved. Orbital ultrasound was suggestive of primary orbital lymphoma, what was confirmed by orbital CT scan and the biopsy of the tumor tissue. Detailed examinations indicated that the marginal zone B-cell non-Hodgkin lymphoma extended to IV - B-b CS, IPI 3 (bone marrow infiltration: m+ orbit+. Upon the completion of the polychemiotherapy and the radiation treatment, a complete remission of the disease was achieved. Conclusion. Even when elements clearly indicate the presence of thyroid-related ophthalmopathy, disease deteriorating should raise a suspicion and always lead to imaging procedures to exclude malignancy.

  18. Behçet diseaseCase presentation

    Directory of Open Access Journals (Sweden)

    Lucian M. Ciobîcă

    2016-12-01

    Full Text Available Behcet's disease is a rare and poorly understood condition with multiple systemic manifestations. The disease causes inflammation in blood vessels throughout the body which leads to numerous symptoms that may appear and disappear unpredictable. Case presentation A 33 year old woman was admitted (interned to our clinic. Her family medical history reveals – multiple strokes (father and autoimmune thyroiditis (sister. The onset of her symptomatology was in 2013 and it consisted of fever (39-40 Celsius degrees sicca syndrome and persistent headaches, recurrent oral and genital ulcerations. An important event is essential to be mentioned -the patients has suffered an episode of upper gastrointestinal bleeding (hemoglobin has dropped to 2.5g/dl which has led to cardiac arrestresuscitated. The lab tests showed: C3 hypocomplementemia, Anti-centromere antibodies (-, anti-b2gp1 antibody (+, lupus anticoagulant (+, U1RNP(-. We started to administrate cyclophosphamide to the patient, thus his condition has improved after the 2nd dose. At the 12-month evaluation we were able to see a significant clinical and biological improvement. Conclusions In order to be able to talk about “evidence based medicine” for the management of Bechet’s disease, a large number of clinical trials is required to provide to the attending physicians the necessary data for diagnosis and treatment.

  19. Pregnancy with Legg Calve Perthes’ Disease – A Case Report

    Directory of Open Access Journals (Sweden)

    Nahreen Akhtar

    2011-09-01

    Full Text Available Legg Calve Perthes’ Disease (LCPD is a hip deformity most common in newborns and children, however it can also affect adults. It is a condition in which the femoral head softens and breaks down. It tends to get better with the age, so in most cases a childhood Perthes’ sufferer will not suffer at all into adulthood apart from the obvious of being significantly short in height for their age. A 25yrs old primigravid lady was admitted at 36+wks pregnancy with Gestational Diabetes Mellitus(GDM with H/O Bronchial asthma with old Perthes’ Disease. She had pain in left hip which increases on movement. This pain and restricted movement of hip increases as pregnancy advances. Her left lower limb was shortened by 0.5cm.Elective caesarean section was done under spinal anaesthesia. A healthy baby was delivered. Her postoperative period was uneventful. The patient was discharged on 6th postoperative day(POD. Key words: Legg calve Perthes’ Disease; Pregnancy DOI: http://dx.doi.org/10.3329/bsmmuj.v4i2.8645 BSMMU J 2011; 4(2:125-127

  20. Creutzfeldt-Jakob Disease: Analysis of Four Cases

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    Ali Al Balushi

    2016-08-01

    Full Text Available Background: Creutzfeldt-Jakob disease (CJD is a rare, rapidly progressive neurodegenerative disease that almost always results in death in under a year from onset of symptoms. Here, we report four cases of CJD with different clinical presentations diagnosed at our institution over two-year period. Cases: The first patient is an 82-year-old woman who presented with depression, cognitive decline and word-finding difficulty over 4 weeks. The patient deteriorated neurologically to akinetic mutism and death within 6 weeks of presentation. The second patient is a 54-year-old woman with liver cirrhosis who presented with confusion, ataxia and multiple falls over 4 weeks. She was treated initially for hepatic encephalopathy, but continued to progress to mutism, startle myoclonus and obtundation. Death occurred within 4 weeks of presentation. The third patient is a 58-year-old woman who presented with an 8-week history of confusion, urinary incontinence, Parkinsonism, ataxia and myoclonus. Death occurred within 2 months from presentation. The fourth patient is a 67-year-old man who presented with a 6-week history of headache, blurred vision, ataxia and personality change and progressed to confusion, myoclonus, akinetic mutism and obtundation. Death occurred within 3 weeks from presentation. Conclusion: These 4 cases highlight the varied possible clinical presentations of CJD and demonstrate the importance of considering CJD in patients with atypical presentations of rapidly progressive cognitive decline. To diagnose CJD, brain biopsy remains the gold standard. However, the presence of CSF protein 14-3-3, typical MRI findings and suggestive EEG abnormalities all support the diagnosis.

  1. Epilepsy in the vibroacoustic disease: a case report.

    Science.gov (United States)

    Martinho Pimenta, A J; Castelo Branco, N A

    1999-03-01

    Late-onset epilepsy was one of the first neurological problems identified in patients diagnosed with vibroacoustic disease. Other clinical situations, such as automatisms and rage-like reaction crises were also observed. Some cases of epileptic seizures were triggered by different types of stimuli. This study describes the clinical case of a 30-yr-old male metal-worker who had epileptic seizures when he used vibratory tools common to his profession, such as drills and sanders. We performed a 21-channel EEG during a seizure induced in the laboratory by direct contact of a vibratory tool with his right hand. This allowed us to view the electrical discharge of his left hemisphere. The entire procedure was simultaneously videotaped while a partial motor crisis was observed. Brain MRI of this subject revealed multiple hyperintense focal lesions in the sub-cortical white matter. Echocardiography revealed thickening of the pericardium and valve structures. To the authors' knowledge, this is the first documented case of reflex epilepsy due to vibratory stimuli. We briefly discuss the possible pathophysiological mechanisms of this clinical event.

  2. A CASE OF RENAL DISEASE IN HIV INFECTED PATIENT

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    Ni Made Vina Septiani

    2013-11-01

    Full Text Available Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4 Kidney diseases in human immunodeficiency virus (HIV infected patients has been been fourth leading cause of death after sepsis, pneumonia, and liver disease. HIV-associated nephropathy (HIVAN is the most common. We report a case, a male patient, 48 years, who experienced shortness of breath, cough and intermittent fever and has been reported as HIV positive, without previous antiretroviral treatment and last CD4+ count is 89 cells/mm3. There are elevated BUN and SC from day to day during treatment and proteinuria +2 as a sign of kidney disease with normal blood pressure and there was no edema. Patients given an antibiotic and ACE inhibitors as antiproteinuria. Patients with suspicion of HIVAN in this case can progress very rapidly and causes progressive decline in renal function. Prognosis of patients with HIVAN if not handled properly will develop end stage renal disease (ESRD in 1-4 months and had a mortality rate 4.7 times higher than HIV patients without renal impairment. /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;}

  3. Genetic Engineering and Sustainable Crop Disease Management: Opportunities for Case-by-Case Decision-Making

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    Paul Vincelli

    2016-05-01

    Full Text Available Genetic engineering (GE offers an expanding array of strategies for enhancing disease resistance of crop plants in sustainable ways, including the potential for reduced pesticide usage. Certain GE applications involve transgenesis, in some cases creating a metabolic pathway novel to the GE crop. In other cases, only cisgenessis is employed. In yet other cases, engineered genetic changes can be so minimal as to be indistinguishable from natural mutations. Thus, GE crops vary substantially and should be evaluated for risks, benefits, and social considerations on a case-by-case basis. Deployment of GE traits should be with an eye towards long-term sustainability; several options are discussed. Selected risks and concerns of GE are also considered, along with genome editing, a technology that greatly expands the capacity of molecular biologists to make more precise and targeted genetic edits. While GE is merely a suite of tools to supplement other breeding techniques, if wisely used, certain GE tools and applications can contribute to sustainability goals.

  4. Pheochromocytoma complicated by cyanotic congenital heart disease: a case report.

    Science.gov (United States)

    Yamamoto, Keiko; Namba, Noriyuki; Kubota, Takuo; Usui, Takeshi; Takahashi, Kunihiko; Kitaoka, Taichi; Fujiwara, Makoto; Hori, Yumiko; Kogaki, Shigetoyo; Oue, Takaharu; Morii, Eiichi; Ozono, Keiichi

    2016-04-01

    Coincidental cyanotic congenital heart disease and pheochromocytoma is uncommon, although some cases have been reported. We describe a girl aged 15 yr and 11 mo with pheochromocytoma and tricuspid atresia treated by performing the Fontan surgery. The patient did not have any specific symptoms of syndrome related to pheochromoytoma or a family history of pheochromocytoma. During cardiac catheterization, her blood pressure increased markedly, and an α-blocker was administered. Catecholamine hypersecretion was observed in the blood and urine, and abdominal computed tomography revealed a tumor in the right adrenal gland. Scintigraphy showed marked accumulation of (123)I-metaiodobenzylguanidine in the tumor, which led to a diagnosis of pheochromocytoma. We did not detect any germline mutations in the RET, VHL, SDHB, SDHD, TMEM127, or MAX genes. This patient had experienced mild systemic hypoxia since birth, which may have contributed to the development of pheochromocytoma.

  5. Endometrial carcinoma occuring from polycystic ovary disease : A case report

    Energy Technology Data Exchange (ETDEWEB)

    Seong, Su Ok; Jeon, Woo Ki [Inje Univ. College of Medicine, Seoul (Korea, Republic of)

    1996-12-01

    Endometrial carcinoma usually occurs in postmenopausal women ; less than 5% occurs in women under the age of 40. Up to one quarter of endometrial carcinoma patients below this age have PCO(polycystic ovary disease, Stein-Leventhal syndrome). The increased incidence of endometrial carcinoma in patients with PCO is related to chronic estrogenic stimulation. We report MR imaging in one case of endometrial carcinoma occuring in a 23 year old woman with PCO and had complained of hypermenorrhea for about three years. On T2-weighted MR image the endometrial cavity was seen to be distended with protruded endometrial masses of intermediate signal intensity, and the junctional zone was disrupted beneath the masses. Both ovaries were best seen on T2-weighted MR imaging and showed multiple small peripheral cysts and low signal-intensity central stroma.

  6. Four cases of equine motor neuron disease in Japan

    Science.gov (United States)

    SASAKI, Naoki; IMAMURA, Yui; SEKIYA, Akio; ITOH, Megumi; FURUOKA, Hidefumi

    2016-01-01

    ABSTRACT In this study, fasciculation of the limbs and tongue was observed in four horses kept by a riding club. Neurogenic muscle atrophy was also observed in biopsy of pathological tissues. In addition, in two cases that subjected to autopsy, Bunina-like bodies of inclusion in the cell bodies of neurons in the spinal cord ventral horn were confirmed, leading to a diagnosis of equine motor neuron disease (EMND). Serum vitamin E concentrations varied between 0.3 and 0.4µg/ml, which is significantly lower than the levels in normal horses. Although lack of vitamin E is speculated to be a contributory factor for development of EMND, no significant improvement was observed following administration of vitamin E. PMID:27703407

  7. [Ludwig angina: a disease of the past century. Case report].

    Science.gov (United States)

    Doldo, G; Albanese, I; Macheda, S; Caminiti, G

    2001-11-01

    The case of a patient with Ludwig's angina, diffuse inflammation of the submandibular and sublingual spaces, a rare but life threatening disease, is described. This disorder can develop almost always as a complication of the dental infection. Causative bacteria include many Gram-negative, anaerobic organisms, streptococci and staphylococci. The potential for rapid respiratory obstruction is the greatest concern. Other serious complications include sepsis, mediastinitis, pleural empidema, pericarditis, pericardial tamponade. A cervico thoracic CT-scan and neck RNM, were performed to determine the extent of the inflammatory lesion. Treatment consists of ensuring adequate ventilation, with tracheostomy, broad spectrum antibiotic therapy and surgical drainage of the source of infection. The patient recovered without complications.

  8. A rare case of occupational lung disease – Talcosis

    Directory of Open Access Journals (Sweden)

    Sathish Kumar M, Dhipu Mathew, Thilagavathy, Aruna Shanmuganathan, Srinivasan R

    2014-07-01

    Full Text Available 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.

  9. A case of cervical radiation radiculopathy resembling motor neuron disease

    Energy Technology Data Exchange (ETDEWEB)

    Mitsunaga, Yoshihiro; Yoshimura, Takeo; Hara, Hideo; Yamada, Takeshi; Kira, Jun-ichi; Kobayashi, Takuro [Kyushu Univ., Fukuoka (Japan). Faculty of Medicine

    1998-05-01

    A 67-year-old man developed slowly progressive muscular weakness in the bilateral upper extremities (C5-7 regions) without signs of sensory deficit following the cervical radiation therapy (70.5 Gy) for right laryngeal cancer 4 years before. These clinical signs resembled those of lower motor neuron disease. MRI with gadolinium-DTPA, however, showed enhancement in the bilateral C5 and C6 anterior roots, suggesting the cervical radiculopathy due to radiotherapy. It is known that radiation to the spinal cord can lead to ``selective anterior horn cell injury``. This is the first case report of the cervical radiation radiculopathy, which, if without MRI, might be classified into selective anterior horn cell injury. Suggestion is made for the hypothesis that the spinal motoneuron loss in radiation myelopathy would be caused by retrograde degeneration due to anterior root damages. (author)

  10. Dysprosody nonassociated with neurological diseases--a case report.

    Science.gov (United States)

    Pinto, José Antonio; Corso, Renato José; Guilherme, Ana Cláudia Rocha; Pinho, Sílvia Rebelo; Nóbrega, Monica de Oliveira

    2004-03-01

    Dysprosody also known as pseudo-foreign dialect, is the rarest neurological speech disorder. It is characterized by alterations in intensity, in the timing of utterance segments, and in rhythm, cadency, and intonation of words. The terms refers to changes as to duration, fundamental frequency, and intensity of tonic and atonic syllables of the sentences spoken, which deprive an individual's particular speech of its characteristics. The cause of this disease is usually associated with neurological pathologies such as brain vascular accidents, cranioencephalic traumatisms, and brain tumors. The authors report a case of dysprosody attended to at the Núcleo de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço de São Paulo (NOSP). It is about a female patient with bilateral III degree Reinke's edema and normal neurological examinations that started presenting characteristics of the German dialect following a larynx microsurgery.

  11. Kawasaki disease in an infant: a case report

    Directory of Open Access Journals (Sweden)

    Karine Guimarães Lacerda

    2017-06-01

    Full Text Available Infant case report diagnosed with Kawasaki disease, a febrile vasculitis that affects mainly children between 2 and 3 years old. The causative agent is still unknown, but the epidemiology and clinical features suggest infectious character. There may be cardiac involvement and micro aneurysms in the coronary arteries. Differential diagnoses are measles, adenovirus and juvenile rheumatoid arthritis. Treatment is with intravenous immunoglobulin, salicylates and steroids. The patient, who is 13 months old, previously healthy, first presented high fever and runny nose eye congestion, treated with symptomatic medication; three days later she evolved with hyperemia frame in the face, trunk and limbs, again treated with symptomatic and antihistamine. After two days, there was swelling in the face, hands and feet, diffuse hyperemia, oral erythema and fever, and she was referred to a hospital for investigation. She presented all the criteria for Kawasaki disease: high fever, eye congestion, alterations in the mouth, polymorph rash, edema in the extremities and acute cervical lymphadenopathy. She was treated with intravenous immuglobulin and salicylates. After leaving hospital, she coursed with fever, swelling and palmoplantar desquamation. She was hospitalized and intravenous immunoglobulin, salicylates and corticosteroids were reintroduced; she progressed well and was discharged in two days. During her hospitalization, the echocardiogram ruled out heart problems.

  12. Hydatid disease of the spine: A rare case

    Directory of Open Access Journals (Sweden)

    Mona Agnihotri

    2017-01-01

    Full Text Available Hydatid disease or hydatidosis is the most widespread zoonosis caused by Echinococcus granulosus. Liver and lungs are the most common sites. Bone involvement is rare and reported in 0.5%–4% with spinal involvement reported in 50% of these cases. We present a case of spinal hydatidosis in a 35-year-old male presenting with lower extremity weakness and numbness. Magnetic resonance imaging (MRI of the spine showed multiple cystic lesions at the T9–T11 level with involvement of the paraspinal muscles. The lesion was seen intraspinal, intradural, intramedullary, and epidural. Radiological impression was aneurysmal bone cyst. The patient underwent laminectomy, and the excised cysts showed characteristic features of hydatid cyst (HC on histopathology. The patient was started on antihelminthic therapy postoperatively. MRI is a diagnostic modality for HC, but the unusual location and absence of characteristic features can cause diagnostic difficulty. A high index of suspicion should be kept in patients residing in endemic areas and presenting with unusual cystic lesion of spine.

  13. Diagnosis, psychiatry and neurology: the case of Huntington Disease.

    Science.gov (United States)

    Halpin, Michael

    2011-09-01

    Although Huntington Disease (HD) is recognized as a neurological condition, it has a number of psychiatric effects, with recent studies suggesting that these effects can appear years prior to the telltale neurological symptoms. This trajectory has, in part, led to the misdiagnosis of HD as a psychiatric illness, as explicated in numerous case studies. This paper utilizes HD as a case study to investigate the social consequences of diagnosis by highlighting the tensions and ambiguities between neurology and psychiatry, while also discussing the difficulties that HD creates for psychiatry's diagnostic schema. Findings are based on 30 in-depth interviews conducted with both individuals with HD and informal caregivers (e.g., spouses) in British Columbia, Canada. The findings address numerous instances of misdiagnosis and the resulting negative impacts for individual health and well-being. The findings are further discussed in relation to the work of Bakhtin and Latour, with suggestions presented to ameliorate such misdiagnoses. Copyright © 2011 Elsevier Ltd. All rights reserved.

  14. A case of spatial neglect dysgraphia in Wilson's Disease.

    Science.gov (United States)

    Auclair, Laurent; Siéroff, Eric; Kocer, Serdar

    2008-01-01

    We report here on a single neuropsychological case study of a young girl, KH, who presented with Wilson's Disease (WD) associated with a peripheral spatial neglect dysgraphia without major problems in the standard clinical tests of spatial neglect. Few studies have demonstrated a visuospatial deficit in WD and to date there has been no report of neglect syndrome arising from WD. However, recent studies have demonstrated that neglect is frequently associated with brain damage including the primary site of WD, the basal ganglia. KHs writing abilities were evaluated just after her admission to the rehabilitation department and 6 months later. The baseline evaluation demonstrated that KH had neglect dysgraphia with verbal stimuli (e.g., words or sentences) although her deficit was less evident in drawing multiple geometric shapes. Six months after the initial evaluation, KH showed evidence of neglect dysgraphia only when writing was associated with a secondary memory task. KHs writing performance is discussed with reference to previous cases of spatial neglect dysgraphia and in the context of spatial neglect. We suggest that the asymmetry between verbal writing and nonverbal drawing disturbances was caused by different attentional loads.

  15. [An infant form of Alexander disease (a clinical case and literature review)].

    Science.gov (United States)

    Vasin, R A; Krasnikov, M A; Vasina, S V

    We present a case of the infant form of Alexander disease. The case uniqueness is that the patient's examination had been started at the preclinical stage and was continued during the manifestation and fastigium of disease. We present rare images obtained during neurosonography at the preclinical stage of the disease as well as the unique findings of MRI studies. The MRI findings at disease onset and 3 years later indicate that the infant form of Alexander disease is characterized by clinical stages.

  16. Neuro-Behçet disease mimicking brain tumor: A case report.

    Science.gov (United States)

    Tramontini, Pedro L; Finkelsztejn, Alessandro; Duarte, Juliana Á; Santos, Guilherme T; Roesler, Rafael; Isolan, Gustavo R

    2017-01-01

    Behçet's disease (BD) is an inflammatory multisystem disease with unknown etiology, and consists of a TRIAD comprising recurrent oral ulcers, genital ulcers, and uveitis. In some cases, the disease affects the central nervous system, called Neuro-Behçet Disease (NBD). Few cases of NBD simulating a brain tumor have been previously reported. Here, we describe the case of a 46-year-old male patient with a previous diagnosis of brain tumor who was later diagnosed for BD. This case highlights the importance of differential diagnosis of lesions with tumoral features. Checking for the possibility of NBD may help avoiding biopsy in these types of cases.

  17. Morgellons disease, illuminating an undefined illness: a case series

    Directory of Open Access Journals (Sweden)

    Harvey William T

    2009-07-01

    Full Text Available Abstract Introduction This review of 25 consecutive patients with Morgellons disease (MD was undertaken for two primary and extremely fundamental reasons. For semantic accuracy, there is only one "proven" MD patient: the child first given that label. The remainder of inclusive individuals adopted the label based on related descriptions from 1544 through 1884, an internet description quoted from Sir Thomas Browne (1674, or was given the label by practitioners using similar sources. Until now, there has been no formal characterization of MD from detailed examination of all body systems. Our second purpose was to differentiate MD from Delusions of Parasitosis (DP, another "informal" label that fit most of our MD patients. How we defined and how we treated these patients depended literally on factual data that would determine outcome. How they were labeled in one sense was irrelevant, except for the confusing conflict rampant in the medical community, possibly significantly skewing treatment outcomes. Case presentation Clinical information was collected from 25 of 30 consecutive self-defined patients with Morgellons disease consisting of laboratory data, medical history and physical examination findings. Abnormalities were quantified and grouped by system, then compared and summarized, but the numbers were too small for more complex mathematical analysis. The quantification of physical and laboratory abnormalities allowed at least the creation of a practical clinical boundary, separating probable Morgellons from non-Morgellons patients. All the 25 patients studied meet the most commonly used DP definitions. Conclusions These data suggest Morgellons disease can be characterized as a physical human illness with an often-related delusional component in adults. All medical histories support that behavioral aberrancies onset only after physical symptoms. The identified abnormalities include both immune deficiency and chronic inflammatory markers that

  18. The role of the case manager in a disease management program.

    Science.gov (United States)

    Huston, Carol J

    2002-01-01

    Disease management programs provide new opportunities and roles for case managers to provide population-based healthcare to the chronically ill. This article identifies common components of disease management programs and examines roles assumed by case managers in disease management programs such as baseline assessment, performing economic analyses of diseases and their respective associated resource utilization, developing and/or implementing care guidelines or algorithms, educational interventions, disease management program implementation, and outcomes assessment. Areas of expertise needed to be an effective case manager in a disease management program are also identified.

  19. More than just Langerhans cell histiocytosis: a radiologic review of histiocytic disorders.

    Science.gov (United States)

    Zaveri, Jatin; La, Quan; Yarmish, Gail; Neuman, Jeremy

    2014-01-01

    Although Langerhans cell histiocytosis (LCH) is a familiar entity to most radiologists and to pediatric radiologists in particular, it is but one of a group of disorders caused by the overproduction of histiocytes, a subtype of white blood cells. Other less familiar diseases in this category are Erdheim-Chester disease (ECD), juvenile xanthogranuloma (JXG), Rosai-Dorfman disease (RDD), and hemophagocytic lymphohistiocytosis (HLH). This review describes the classification system, clinical manifestations, and pathophysiology of each disease, with particular attention to differential radiographic findings, including typical locations of involvement and varying appearances at radiography, computed tomography, magnetic resonance imaging, ultrasonography, and nuclear medicine imaging. Although LCH has a wide variety of manifestations and appearances, classic imaging findings include vertebra plana, skull lesions with a beveled edge, the "floating tooth" sign, bizarre lung cysts, and an absent posterior pituitary bright spot with infundibular thickening. The classic imaging findings of ECD are a perirenal rind of soft tissue and patchy long bone osteosclerosis. RDD has more nonspecific imaging findings, including lymphadenopathy (most commonly cervical) and intracranial lesions. Imaging findings in HLH are broad, with the most common abnormalities being hepatosplenomegaly, cerebral volume loss, and periventricular white matter abnormalities. JXG can manifest at imaging, but radiology does not play a major role in diagnosis. Familiarity with these disorders and their associated imaging findings facilitates correct and timely diagnosis. Imaging also features prominently in the assessment of treatment response. ©RSNA, 2014.

  20. Use of laboratory reports as predictors of West Nile virus disease cases, Texas, 2008-2012.

    Science.gov (United States)

    Yendell, S J; Taylor, J; Biggerstaff, B J; Tabony, L; Staples, J E; Fischer, M

    2015-01-01

    We evaluated laboratory reports as early indicators of West Nile virus (WNV) disease cases in Texas. We compared WNV laboratory results in the National Electronic Disease Surveillance System Base System (NBS) to WNV disease cases reported to the state health department from 2008 to 2012. We calculated sensitivity and positive predictive value (PPV) of NBS reports, estimated the number of disease cases expected per laboratory report, and determined lead and lag times. The sensitivity and PPV of NBS laboratory reports were 86% and 77%, respectively. For every 10 positive laboratory reports, we expect 9·0 (95% confidence interval 8·9-9·2) reported disease cases. Laboratory reports preceded case reports with a lead time of 7 days. Electronic laboratory reports provided longer lead times than manually entered reports (P < 0·01). NBS laboratory reports are useful estimates of future reported WNV disease cases and may provide timely information for planning public health interventions.

  1. Pre-admission antibiotics for suspected cases of meningococcal disease.

    Science.gov (United States)

    Sudarsanam, Thambu D; Rupali, Priscilla; Tharyan, Prathap; Abraham, Ooriapadickal Cherian; Thomas, Kurien

    2013-08-02

    = 477; 29 with sequelae; low-quality evidence). No adverse effects of treatment were reported. Estimated treatment costs were similar. No data were available on disease burden due to sequelae. We found no reliable evidence to support or refute the use of pre-admission antibiotics for suspected cases of non-severe meningococcal disease. Evidence of moderate quality from one RCT indicated that single intramuscular injections of ceftriaxone and long-acting chloramphenicol were equally effective, safe and economical in reducing serious outcomes. The choice between these antibiotics would be based on affordability, availability and patterns of antibiotic resistance.Further RCTs comparing different pre-admission antibiotics, accompanied by intensive supportive measures, are ethically justifiable in participants with severe illness, and are needed to provide reliable evidence in different clinical settings.

  2. IgG4-related disease presenting with an epidural inflammatory pseudotumor: a case report

    OpenAIRE

    Ferreira, Nuno Ribeiro; Vaz, Rita; Carmona, Sara; Mateus, Sofia; Pereira, Patr?cia; Fernandes, Liliana; Moreira, Hugo; Chor?o, Martinha; Saldanha, Lu?s; Carvalho, Ant?nio; Campos, Lu?s

    2016-01-01

    Background Inflammatory pseudotumor is a rare clinical condition that can be related to immunoglobulin G4 disease. Only a few cases of spinal inflammatory pseudotumors have been reported in the literature and an association with immunoglobulin G4 disease was not conclusive in any of them. We describe what we believe to be the first biopsy-proven case of an epidural inflammatory pseudotumor related to immunoglobulin G4 disease. Case presentation A 57-year-old Caucasian woman presented to our h...

  3. Spinal Rosai–Dorfman disease: Case report of a rare disorde

    Directory of Open Access Journals (Sweden)

    A. Elsotouhy

    2015-12-01

    Conclusion: This is a rare case of spinal Rosai–Dorfman Disease with epidural and intradural components causing cord compression. To our knowledge, this represents the first case of combined epidural and intradural extramedullary lesions in the literature.

  4. First case of Mycobacterium heckeshornense cavitary lung disease in the Latin America and Caribbean region

    NARCIS (Netherlands)

    Coitinho, C.; Greif, G.; Ingen, J. van; Laserra, P.; Robello, C.; Rivas, C.

    2016-01-01

    A case of cavitary pulmonary disease caused by Mycobacterium heckeshornense in Uruguay is described. This is the first case reported in the Latin America and Caribbean region, showing that this species is a worldwide opportunistic human pathogen.

  5. Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease

    NARCIS (Netherlands)

    Topçu, M.; Erdem, G.; Saatçi, I.; Aktan, G.; Simşek, A.; Renda, Y.; Schutgens, R. B.; Wanders, R. J.; Jacobs, C.

    1996-01-01

    We report three cases of L-2-hydroxyglutaric acidemia and three cases of Canavan disease. The L-2-hydroxyglutaric acidemia cases are the first biochemically proven Turkish cases. Magnetic resonance imaging findings in the cases and similarities between the two diseases are emphasized. Both diseases

  6. Quantification of tumor-derived cell free DNA(cfDNA) by digital PCR (DigPCR) in cerebrospinal fluid of patients with BRAFV600 mutated malignancies.

    Science.gov (United States)

    Momtaz, Parisa; Pentsova, Elena; Abdel-Wahab, Omar; Diamond, Eli; Hyman, David; Merghoub, Taha; You, Daoqi; Gasmi, Billel; Viale, Agnes; Chapman, Paul B

    2016-12-20

    Tumor-derived cell free DNA (cfDNA) can be detected in plasma. We hypothesized that mutated BRAF V600 cfDNA could be quantified in the cerebrospinal fluid (CSF) of patients with central nervous system (CNS) metastases. We collected CSF from patients with BRAF V600E or K-mutated melanoma (N=8) or BRAF V600E mutated Erdheim-Chester Disease (ECD) (N=3) with suspected central nervous system (CNS) involvement on the basis of neurological symptoms (10/11), MRI imaging (8/11), or both. Tumor-derived cfDNA was quantified by digital PCR in the CSF of 6/11 patients (range from 0.15-10.56 copies/μL). Conventional cytology was negative in all patients except in the two patients with markedly elevated levels of tumor-derived cfDNA. In 2 patients with serial measurements, CSF tumor-derived cfDNA levels reflected response to treatment or progressive disease. CSF tumor-derived cfDNA has the potential to serve as a diagnostic tool that complements MRI and may be more sensitive than conventional cytology.

  7. Celiac Disease Presenting with Bone Pain: Two Case Reports

    OpenAIRE

    Nural Albayrak Aydın; Kamil Yazıcıoğlu

    2011-01-01

    Celiac disease or gluten sensitive enteropathy is an autoimmune disease characterized by inflammation of the small-bowel mucosa. As can be asymptomatic, involvement of the hematologic, gastrointestinal system, musculosceletal system, nervous system or endocrine system may occur as well. The presence of osteoporosis in celiac disease, may be the only sign of patients who have not been diagnosed yet. The direct effect of celiac disease on bones happens secondary to decreased absorbsion of calci...

  8. A suspected case of Addison’s disease in cattle

    OpenAIRE

    Lambacher, Bianca; Wittek, Thomas

    2015-01-01

    A 4.75-year old Simmental cow was presented with symptoms of colic and ileus. The clinical signs and blood analysis resulted in the diagnosis of suspected primary hypoadrenocorticism (Addison’s disease). Although Addison’s disease has been frequently described in other domestic mammals, to our knowledge, this disease has not previously been reported in cattle.

  9. kawasaki disease in ghana: case reports from korle bu teaching ...

    African Journals Online (AJOL)

    pyretics and antibiotics, accompanied by a rash and non purulent conjunctivitis should be sus- pected to have Kawasaki disease. Keywords: Kawasaki Disease, Coronary Arterial. Aneurysms, Aspirin, Ghana. INTRODUCTION. Kawasaki disease (KD) is a systemic vasculitis affecting small to medium sized arteries but with a.

  10. Coats' disease in Tanzania: first case report and literature review

    African Journals Online (AJOL)

    Abstract. Background: Coats' disease is an exudative retinal detachment with vascular telangiectasis occurring mostly in male children, the age group most affected by retinoblastoma. Objectives: To compare the differential diagnoses of Coats' disease. To establish recommendation to early disease detection. Materials and ...

  11. Coats' disease in Tanzania: first case report and literature review ...

    African Journals Online (AJOL)

    Background: Coats' disease is an exudative retinal detachment with vascular telangiectasis occurring mostly in male children, the age group most affected by retinoblastoma. Objectives: To compare the differential diagnoses of Coats' disease. To establish recommendation to early disease detection. Materials and Methods:

  12. Huntington disease and Huntington disease-like in a case series from Brazil.

    Science.gov (United States)

    Castilhos, R M; Souza, A F D; Furtado, G V; Gheno, T C; Silva, A L; Vargas, F R; Lima, M-A F D; Barsottini, O; Pedroso, J L; Godeiro, C; Salarini, D; Pereira, E T; Lin, K; Toralles, M-B; Saute, J A M; Rieder, C R; Quintas, M; Sequeiros, J; Alonso, I; Saraiva-Pereira, M L; Jardim, L B

    2014-10-01

    The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD-like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral-pallidoluysian degeneration (DRPLA), benign hereditary chorea, neuroferritinopathy and chorea-acanthocytosis (CHAC), in a series of Brazilian families. Patients were recruited in seven centers if they or their relatives presented at least chorea, besides other findings. Molecular studies of HTT, ATXN2, TBP, ATN1, JPH3, FTL, NKX2-1/TITF1 and VPS13A genes were performed. A total of 104 families were ascertained from 2001 to 2012: 71 families from South, 25 from Southeast and 8 from Northeast Brazil. There were 93 HD, 4 HDL2 and 1 SCA2 families. Eleven of 104 index cases did not have a family history: 10 with HD. Clinical characteristics were similar between HD and non-HD cases. In HD, the median expanded (CAG)n (range) was 44 (40-81) units; R(2) between expanded HTT and age-at-onset (AO) was 0.55 (p=0.0001, Pearson). HDL2 was found in Rio de Janeiro (2 of 9 families) and Rio Grande do Sul states (2 of 68 families). We detected HD in 89.4%, HDL2 in 3.8% and SCA2 in 1% of 104 Brazilian families. There were no cases of HDL1, SCA17, DRPLA, neuroferritinopathy, benign hereditary chorea or CHAC. Only six families (5.8%) remained without diagnosis. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. Functional evidence for derivation of systemic histiocytic neoplasms from hematopoietic stem/progenitor cells.

    Science.gov (United States)

    Durham, Benjamin H; Roos-Weil, Damien; Baillou, Claude; Cohen-Aubart, Fleur; Yoshimi, Akihide; Miyara, Makoto; Papo, Matthias; Hélias-Rodzewicz, Zofia; Terrones, Nathalie; Ozkaya, Neval; Dogan, Ahmet; Rampal, Raajit; Urbain, Fanny; Le Fèvre, Lucie; Diamond, Eli L; Park, Christopher Y; Papo, Thomas; Charlotte, Frédéric; Gorochov, Guy; Taly, Valérie; Bernard, Olivier A; Amoura, Zahir; Abdel-Wahab, Omar; Lemoine, François M; Haroche, Julien; Emile, Jean-François

    2017-07-13

    Langerhans cell histiocytosis (LCH) and the non-LCH neoplasm Erdheim-Chester disease (ECD) are heterogeneous neoplastic disorders marked by infiltration of pathologic macrophage-, dendritic cell-, or monocyte-derived cells in tissues driven by recurrent mutations activating MAPK signaling. Although recent data indicate that at least a proportion of LCH and ECD patients have detectable activating kinase mutations in circulating hematopoietic cells and bone marrow-based hematopoietic progenitors, functional evidence of the cell of origin of histiocytosis from actual patient materials has long been elusive. Here, we provide evidence for mutations in MAPK signaling intermediates in CD34(+) cells from patients with ECD and LCH/ECD, including detection of shared origin of LCH and acute myelomonocytic leukemia driven by TET2-mutant CD34(+) cell progenitors in one patient. We also demonstrate functional self-renewal capacity for CD34(+) cells to drive the development of histiocytosis in xenotransplantation assays in vivo. These data indicate that the cell of origin of at least a proportion of patients with systemic histiocytoses resides in hematopoietic progenitor cells prior to committed monocyte/macrophage or dendritic cell differentiation and provide the first example of a patient-derived xenotransplantation model for a human histiocytic neoplasm. © 2017 by The American Society of Hematology.

  14. Moyamoya disease presenting as acute onset cortical blindness: a case report

    Directory of Open Access Journals (Sweden)

    Maniram Dudi

    2016-03-01

    Full Text Available We report a case where acute onset cortical blindness is the mode of presentation in Moyamoya disease. Cortical blindness is very rare presenting symptom of Moyamoya disease. Progressive visual loss and homonymous anopsia has been described previously, but this case had acute visual loss.

  15. Monolobar Caroli’s disease with renal cysts: Case report

    Directory of Open Access Journals (Sweden)

    Shruti Thakur

    2014-03-01

    Full Text Available Caroli’s disease is autosomal recessive, non-obstructive dilatation of intrahepatic biliary ducts. The exact etiology is unclear. Two variants of Caroli’s disease are well known-simple; in which bile ducts are dilated without hepatic fibrosis and the second type which is associated with congenital hepatic fibrosis along with its sequelae, also known as Caroli’s syndrome. Simple Caroli’s disease without hepatic fibrosis is quite rare. The importance of recognizing this disease as a cause of biliary stasis is its frequent association with lithiasis, recurrent cholangitis, liver abscesses, cirrhosis and cholangiocarcinoma.

  16. Is there an association between Fahr′s disease and cardiac conduction system disease?: A case report

    Directory of Open Access Journals (Sweden)

    Prashanth Panduranga

    2012-01-01

    Full Text Available Background: Fahr′s disease is a rare neurodegenerative disorder of unknown cause characterized by idiopathic basal ganglia calcification that is associated with neuropsychiatric and cognitive impairment. No case of Fahr′s disease with associated cardiac conduction disease has been described in the literature to date. The objective of this case report was to describe a young female with various cardiac conduction system abnormalities and bilateral basal ganglia calcifica-tion suggestive of Fahr′s disease. Case Report: A 19-year-old female was transferred to our hospital for a pacemaker insertion. Her past medical history included cognitive impairment and asymptomatic congenital complete heart block since birth. Her manifestations in-cluded cognitive impairment, tremors, rigidity, ataxia, bilateral basal ganglia calcification without clinical manifesta-tions of mitochondrial cytopathy. She also had right bundle branch block, left anterior fascicular block, intermittent complete heart block, atrial arrhythmias with advanced atrioventricular blocks and ventricular asystole manifested by Stokes-Adams seizures, which was diagnosed as epilepsy. Conclusions: According to our knowledge, this was the first case report of a su spected association between Fahr′s disease and isolated cardiac conduction system disease. In addition, this case illustrated that in patients with heart blocks and seizures, a diagnosis of epilepsy needs to be made with caution and such patients need further evaluations by a cardiologist or electrophysiologist to consider pacing and prevent future catastrophic events.

  17. Acute methemoglobinemia associated with ochronotic valvular heart disease: report of a case.

    Science.gov (United States)

    Uchiyama, C; Kondoh, H; Shintani, H

    2010-03-01

    We describe the first reported case of acute methemoglobinemia associated with ochronotic valvular heart disease. A 79-year-old man with ochronotic valvular heart disease experienced decreased urinary output starting 9 days after an operation. Thereafter, the patient's methemoglobin concentration acutely increased, indicating systemic cyanosis, while the arterial partial oxygen pressure (PaO (2)) was maintained at around 200 mmHg. In patients with ochronotic valvular heart disease, acute methemoglobinemia may occur, as in cases of renal failure or oliguresis.

  18. Bilateral Panner's disease in sickle cell anaemia: Case report

    African Journals Online (AJOL)

    Sickle cell disease is the most frequent haemoglobinopathy in the world (1). The cause is a point mutation in the allele that codes for the beta chain of haemoglobin with a substitution. (valine for glutamic acid at position 6). The most common types of sickle cell disease are HbSS,. HbSC and HbS-beta thalassemia (2). Other.

  19. Bilateral Panner's disease in sickle cell anaemia: Case report | King ...

    African Journals Online (AJOL)

    Avascular necrosis is common in sickle cell disease in various vulnerable areas such as in the femoral or humeral heads. Panner's disease however is described as avascular necrosis of the capitellum, which commonly occurs in a younger age group. It is a pathological process believed to be caused by interference in the ...

  20. Skeletal complications in Gaucher's disease: A case report | Ong ...

    African Journals Online (AJOL)

    Gaucher's disease is a rare inherited lysosomal storage disease due to a genetic deficiency of an enzyme acid-B-glucosidase. Onset and clinical course is very variable but main features are hepatosplenomegaly, anaemia, thrombocytopenia and many bone features including osteopenia, lytic lesions, pathological fractures, ...

  1. skeletal complications in gaucher's disease: a case report abstract

    African Journals Online (AJOL)

    2012-09-06

    Sep 6, 2012 ... Correspondence to: Dr. H. O. Ong'ang'o, P.O.Box 74037-00200, Nairobi, Kenya. E-mail:herbertongango@ yahoo.com. ABSTRACT. Gaucher's disease is a rare inherited lysosomal storage disease due to a genetic deficiency of an enzyme acid-B-glucosidase. Onset and clinical course is very variable but ...

  2. Kimura's disease in a Nigerian: Case report | Adisa | East African ...

    African Journals Online (AJOL)

    Kimura's disease (KD) is a chronic inflammatory disease presenting as multiple subcutaneous swellings within the head and neck region. Aetiology has been suggested to be due to allergy or an immune response and it's predominantly seen in young and middle-aged males. Histopathologically, hyperplasia of lymphoid ...

  3. Familial graves' disease among three black africa families, case ...

    African Journals Online (AJOL)

    In the African setting with improvement in iodine supplementation by iodization of salt and drinking water; Graves disease may become more prominent as the main aetiology of thyrotoxicosis as toxic nodular goitre used to rank side by side in the causation of thyrotoxicosis. A report of Graves disease is being made among ...

  4. Crohn's disease presenting as a recurrent perianal fistula: A case ...

    African Journals Online (AJOL)

    Crohn's disease (CD) is a multifactorial polygenic disease characterized by chronic inflammation of the gastrointestinal tract (GIT), often complicated by the development of intestinal strictures and/or formation of fistulas. Several diagnostic criteria have been proposed, usually relying on clinical, endoscopic, radiological or ...

  5. Bilateral Panner's disease in sickle cell anaemia: Case report

    African Journals Online (AJOL)

    Avascular necrosis is common in sickle cell disease in various vulnerable areas such as in the femoral or humeral heads. Panner's disease however is described as avascular necrosis of the capitellum, which commonly occurs in a younger age group. It is a pathological process believed to be caused by interference.

  6. Cortical involvement of marchiafava-bignami disease: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Jang, Han Won [Yeungnam University College of Medicine, Daegu (Korea, Republic of)

    2007-03-15

    Marchiafava-Bignami disease is a rare complication of chronic alcoholism and this malady typically manifests as callosal lesion. I report here on one patient with Marchiafava-bignami disease (MBD) who has symmetric restricted diffusion in both lateral-frontal cortices, in addition to the callosal lesion.

  7. IgG4-Related Lung Disease - Three Untreated Cases with a Benign Outcome.

    Science.gov (United States)

    Baltaxe, Erik; Shulimzon, Tiberiu; Lieberman, Sivan; Rozenman, Judith; Perelman, Marina; Segel, Michael J

    2016-01-01

    IgG4-related disease is a fibroinflammatory disease in which the organs involved share similar pathological findings. Chest disease has been recently clinically and radiologically characterized. Most reports advocate prompt immunosuppressive therapy and describe a fast and good response. We report 3 cases of untreated IgG4-related lung disease that on follow-up have been clinically asymptomatic and radiologically stable or improved. In some cases of IgG4-related lung disease immunosuppressive therapy may not be warranted. Copyright © 2015 SEPAR. Published by Elsevier Espana. All rights reserved.

  8. The population ecology of infectious diseases: pertussis in Thailand as a case study.

    Science.gov (United States)

    Blackwood, J C; Cummings, D A T; Broutin, H; Iamsirithaworn, S; Rohani, P

    2012-12-01

    Many of the fundamental concepts in studying infectious diseases are rooted in population ecology. We describe the importance of population ecology in exploring central issues in infectious disease research including identifying the drivers and dynamics of host-pathogen interactions and pathogen persistence, and evaluating the success of public health policies. The use of ecological concepts in infectious disease research is demonstrated with simple theoretical examples in addition to an analysis of case notification data of pertussis, a childhood respiratory disease, in Thailand as a case study. We stress that further integration of these fields will have significant impacts in infectious diseases research.

  9. Appendiceal immunoglobulin G4-related disease mimicking appendiceal tumor or appendicitis: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hyun Soo; Kang, Won Kyung; Chung, Dong Jin [Yeouido St. Mary' s Hospital, The Catholic University of Korea, Seoul (Korea, Republic of)

    2016-02-15

    Immunoglobulin G4 (IgG4)-related disease is an autoimmune disease that forms tumorous lesions. Several cases involving various organs are reported, however, IgG4-related disease involving appendix has not been reported yet. In this report, we presented a case of IgG4-related disease of appendix, which raised a suspicion of appendiceal tumor or usual appendicitis and, therefore, led to unnecessary surgical resection. IgG4-related disease should be considered in the differential diagnosis for a mass-like swelling of the appendix, in order to avoid unnecessary surgery.

  10. A Rare Manifestation of Crohn's Disease: Sinonasal Granulomatosis. Report of a Case and Review of Literature

    Directory of Open Access Journals (Sweden)

    Lilia Baili

    2014-10-01

    Full Text Available Crohn’s disease is a granulomatous inflammatory bowel disease. Its pathologic findings include non-contiguous chronic inflammation and non-caseating granulomas, sometimes with extra-intestinal localizations. Sinonasal manifestations of Crohn’s disease are quite rare and only a few cases have been reported up to date in the worldwide literature. They are characterized by chronic mucosal inflammation, obstruction, bleeding and occasionally septal perforation. We report a case of sinonasal granulomatosis revealing Crohn’s disease in a 22-year-old woman and go over the available literature on sinonasal involvement in Crohn’s disease.

  11. Human ORF disease localized in the hand: a "false felon". A study of eight cases.

    Science.gov (United States)

    Arnaud, J P; Bernard, P; Souyri, N; Pecout, C; Dunoyer, J

    1986-01-01

    The authors report eight cases of human ORF disease localized to the hand and transmitted to man by contact with the sheep. This disease is characterized by typical lesions on exposed cutaneous zones. Those lesions must be distinguished from milker's nodules, botryomycosis and above all felon because ORF disease never require surgery.

  12. Lyme disease: report of two cases | Jowi | East African Medical Journal

    African Journals Online (AJOL)

    Lyme disease is a tick-borne multisystem disease. It was first described in Lyme, Connecticut, USA in 1975. Cases have been reported in Canada, Switzerland, Austria, Australia and Great Britain. It is an inflammatory disease that has varied clinical manifestations ranging from skin rash (erythema migrans), arthritis, ...

  13. Central Nervous System Involvement in Gaucher’s Disease: Radiological Demonstration Case Report

    Directory of Open Access Journals (Sweden)

    Hatice Öztürkmen Akay

    2004-01-01

    Full Text Available Gaucher’s disease is most common sphyngolipid storage disease.Central nervous system involvement is very rare and imaging findings ofthis involvement is not specific.In this case report, we described computed tomographic and magneticresonance findings of cerebral involvement verified with cerebrospinal fluidexamination in a patient with Gaucher’s disease.

  14. Localised prostate cancer and hemophilia A (AHA: Case report and management of the disease

    Directory of Open Access Journals (Sweden)

    Francesco Celestino

    2014-09-01

    Full Text Available Acquired Hemophilia A (AHA is a rare bleeding diathesis characterized by the development of autoantibodies against factor VIII (FVIII. About half of the cases are idiopathic and the other half are associated with autoimmune diseases, postpartum problems, infections, inflammatory bowel disease, drugs, lymphoproliferative disorders or solid tumors . AHA is associated with malignancies in 7-15% of cases. We report a case of AHA in a 65 year old patient with prostatic carcinoma, who underwent retropubic radical prostatectomy (RP.

  15. Pott's disease: A case report | Uduma | Abia State University Medical ...

    African Journals Online (AJOL)

    Sites of predilection is thoraco-lumbar regions of the spine. Case: We present a case of tuberculous spondylitis with complications of bony caseation and abscess formation leading to myelopathy or radiculopathy with attendant neurologic deficit. Our patient was managed chemotherapeutically with a good outcome.

  16. Caffey Disease or Infantile Cortical Hyperostosis: A Case Report

    Directory of Open Access Journals (Sweden)

    Narayanan Kutty

    Full Text Available Caffey disease or Infantile Cortical Hyperostosis (ICH is a rare and mostly self limiting condition affecting young infants. It is characterized by acute inflammation of the periostium and the overlying soft tissue and is accompanied by systemic changes of irritability and fever. Diagnosis may be delayed as this disorder mimics a wide range of diseases including osteomyelitis, hypervitaminosis A, scurvy, bone tumors and child abuse. The emphasis here is to remind clinicians about the existence of the disease in this country.

  17. Anesthetic considerations in Leigh disease: Case report and literature review

    Directory of Open Access Journals (Sweden)

    Abdullah Sulieman Terkawi

    2012-01-01

    Full Text Available Leigh disease is an extremely rare disorder, characterized by a progressive neurodegenerative course, with subacute necrotizing encephalomyelopathy. It usually presents in infancy with developmental delay, seizures, dysarthria, and ataxia. These patients may also develop episodes of lactic acidosis that usually lead to respiratory failure and death. Due to the rarity of the condition, the most appropriate anesthetic plan remains unclear. We present a patient with Leigh disease, who required general anesthesia. The pathogenesis of the disease is discussed and previous reports of perioperative care from the literature are reviewed.

  18. Diverticular disease and the risk of colon cancer - a population-based case-control study.

    Science.gov (United States)

    Granlund, J; Svensson, T; Granath, F; Hjern, F; Ekbom, A; Blomqvist, P; Schmidt, P T

    2011-09-01

    Colon cancer and diverticular disease are most common in the Western world and their incidences tend to increase with advancing age. The association between the diseases remains unclear. To analyse the risk of colon cancer after hospitalisation for diverticular disease. Nationwide case-control study. A total of 41,037 patients with colon cancer during 1992-2006, identified from the Swedish Cancer Register were included. Each case was matched with two control subjects. From the Swedish Inpatient Register, cases and control subjects hospitalised for diverticular disease were identified. Odds ratios (OR) and confidence intervals for receiving a diagnosis of colon cancer after hospital discharge for diverticular disease were calculated. Colon cancer mortality was compared between patients with or without diverticular disease. Within 6months after an admission due to diverticular disease, OR of having a colon cancer diagnosis were up to 31.49 (19.00-52.21). After 12 months, there was no increased risk. The number of discharges for diverticular disease did not affect the risk. Colon cancer mortality did not differ between patients with and without diverticular disease. Diverticular disease does not increase the risk of colon cancer in the long term, and a history of diverticular disease does not affect colon cancer mortality. The increased risk of colon cancer within the first 12months after diagnosing diverticular disease is most likely due to surveillance and misclassification. Examination of the colon should be recommended after a primary episode of symptomatic diverticular disease. © 2011 Blackwell Publishing Ltd.

  19. A contemporary review of venous adventitial cystic disease and three case reports.

    Science.gov (United States)

    Chen, YueXin; Sun, RuiXue; Shao, Jiang; Li, YongJun; Liu, ChangWei

    2015-02-01

    Venous adventitial cystic disease is a rare vascular disease. The objective of the study is to contemporarily review the literature of venous adventitial cystic disease and report three other new cases of adventitial cystic disease in common femoral vein. Articles published between 1947 and April 2013 were searched in OVID and PubMed databases. The search yielded only 38 reported cases of venous adventitial cystic disease. The general characteristics and disease management information of the 41 cases (including our current 3 cases) were analyzed. Venous adventitial cystic disease could develop late in life with an average age of 48.39 years (range, 5 to 77 years). Similar to arterial adventitial cystic disease, venous adventitial cystic disease was also found to have a male predominance (male to female ratio, 1.28:1). The common femoral vein was the most likely vein to be involved (65.9%, 27 cases). Right and left sides were almost equally affected. Extremity swelling (86.8%, 33 cases) was the main symptom of patients presenting with venous adventitial cystic disease. Excision of cyst wall in 30 patients (73.2%) was the main surgical procedure with a recurrence rate of 11.5%. Thirteen involved veins were resected; of which, 10 were reconstructed with prosthetic or autologous graft. No recurrence was reported in these 13 patients. Postoperatively, nine cases received an anticoagulation therapy. In conclusion, the etiology, treatment strategy, and outcomes of venous adventitial cystic disease could not be well understood in the present review due to limited numbers of cases. Studies with careful follow-up for at least up to first several months are recommended. © The Author(s) 2013 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  20. Clinicopathological Study of 25 Cases of Diverticular Disease of the Appendix: Experience from Farwaniya Hospital

    Directory of Open Access Journals (Sweden)

    Nabeel Al-Brahim

    2013-01-01

    Full Text Available Background. Diverticular disease of the appendix (DDA is a rare disease and it has been shown to be associated with locoregional neoplasms. This study was conducted to characterize clinicopathological features and to investigate its association with appendiceal neoplasms. Methods. We searched the records of the Department of Pathology at Farwaniya Hospital for cases of diverticular disease of the appendix between 2003 and 2011. Histological slides and patient charts were reviewed for relevant information. Consecutive cases of acute appendicitis were selected as a control group. Results. We identified 25 cases of DDA, 24 of which occurred in men. Mean age of DDA patients was 35 ± 10.1 years and was significantly greater than that of appendicitis patients (P=0.027. The mean temperature of cases (37.9° was significantly higher (P=0.012 than that of the controls (37.3°. The cases had lower white blood cell (WBC counts compared to controls (13.6 versus 16.7, P=0.04. Pathological diagnosis identified 4 cases of diverticulosis, 5 cases of diverticulitis, 6 cases of diverticulosis with acute appendicitis, and 10 cases of diverticulitis and appendicitis. None of the cases was associated with any type of neoplasm. Conclusions. DDA is a rare disease, and clinicians and radiologists should be aware of it. Male sex and adult age seem to be risk factors associated with DDA. The disease may not have any direct association with any neoplasm.

  1. Retroperitoneal Pararenal Mass; Castleman Disease: A Case Report

    Directory of Open Access Journals (Sweden)

    Alper Ozorak

    2016-05-01

    Full Text Available Castleman%u2019s disease is a heterogeneous group of lymphoproliferative disorders with unknown etiology presenting with lymphadenopathy. Although Castleman%u2019s Disease may occur anywhere along the lymphatic chain, the mediastinum is the most common location (70%. We represent 36-year-old male patient with homogeneous retroperitoneal mass that interrelated with renal hilum of the right kidney in abdominal tomography. Surgical complete resection performed and histopathological diagnosis of the resected tissue was hyaline-vascular type of Castleman%u2019s disease It is histologically and prognostically distinct from malignant lymph-node hyperplasia. Although Castleman%u2019s disease is rare condition, it should always be kept in mind in the differential diagnosis of retroperitoneal tumors.

  2. Kawasaki Disease in A Nigerian Child- a case report | Sotimehin ...

    African Journals Online (AJOL)

    cutaneous hypersensitivity reaction during treatment for a febrile illness, but eventually manifested all the diagnostic criteria for Kawasaki Disease (KD) while on admission. Although an initial diagnosis of Steven-Johnson's Syndrome was made, ...

  3. Lipid Resonance on In Vivo Proton MR Spectroscopy: Value of Other Metabolites in Differential Diagnosis.

    Science.gov (United States)

    Mohan, S; Verma, A; Lim, C C T; Hui, F; Kumar, S

    2010-06-01

    In vivo proton MR spectroscopy ((1)H-MRS) can non-invasively provide biochemical information at the same examination as conventional magnetic resonance imaging (MRI). Lipid resonance (0.9-1.5 ppm) is a marker of cell membrane breakdown and tissue necrosis, but its diagnostic significance has not been well described. We retrospectively analyzed spectra to study the different pathological conditions in patients with abnormal lipid resonance. All patients with neurological diseases showing lipid resonance on (1)H-MRS (1.5T) in a tertiary hospital over two years were retrospectively analyzed. (1)H-MRS was performed using the single voxel PRESS technique (TR/TE=3000/144 ms, eight excitations). Spectra were analysed for the presence of NAA (2.0 ppm), creatine (3.0 ppm), choline (3.2 ppm), acetate (1.92 ppm), succinate (2.4 ppm), cytosolic amino acids (0.9 ppm), lactate (1.3 ppm) and lipid (0.9-1.5 ppm) peaks. Ninety-two spectra from 69 patients (38 males, 31 females; aged 9 to 89 years) were analyzed. The final diagnosis was infective (n= 33), (tuberculoma n=17, pyogenic abscess n= 8, fungal abscess n= 3, sterile abscess n= 3, tubercular abscess n= 2), neoplastic (n= 21) (glial tumors n= 9, metastasis n= 8, lymphoma n= 4), and other (n= 15) abnormalities (subacute and chronic stroke n= 6, postictal edema n= 4, multiple sclerosis n= 2, Erdhiem Chester disease n= 2, Rosai Dorfmann disease n= 1). Succinate and acetate were detected only in pyogenic abscesses (2/4 cases), but amino acids were present in both pyogenic (4/8) and fungal (3/3) abscesses. Choline was seen not only in neoplasms (18) but also in tuberculomas (11/17), but was consistently absent in the abscesses. Lactate was present in glioblastoma (7/9), pyogenic (3/8) tubercular (2/2) and fungal (3/3) abscess. Isolated lipid resonance was found in Erdheim Chester disease (2/2) of the orbit, and lipid and choline was seen in Rosai Dorfmann's disease (1/1). Brain lesions containing lipid on (1)H-MRS could be

  4. Mondor\\s disease of penis:case report

    Directory of Open Access Journals (Sweden)

    Kemal Ener

    2013-03-01

    Superficial penile dorsal vein trombosis is a benign pathology and it is not associated with any systemic and malign disorders. Diagnosis depends on a detailed patient history and physical examinatiton. Thus Mondor's Disease is self limited, it is thought that many of the patients with this disease are healed without applying to a hospital. [J Contemp Med 2013; 3(1.000: 42-44

  5. Kimura's disease: A case presentation of postauricular swelling

    African Journals Online (AJOL)

    2015-05-28

    May 28, 2015 ... Chen YM, Chen CH, Chen HH, Chen YH, Chen DY, Lan JL. Clinical manifestations, therapeutic response and disease outcome of Kimura's disease in Taiwan. Formos J Rheumatol 2009;23:33‑9. 10. López‑Arcas Calleja JM, Iturriaga TM, Romero MP, de María Martínez G,. Martín‑Moro JG, del Castillo JL.

  6. Hospital Admissions, Biological Therapy, and Surgery in Familial and Sporadic Cases of Inflammatory Bowel Disease

    DEFF Research Database (Denmark)

    Trier Moller, Frederik; Andersen, Vibeke; Andersson, Mikael

    2015-01-01

    -related hospitalization, biological treatment, and surgery in familial versus sporadic cases of IBD. RESULTS: A total of 27,886 IBD cases, including 1006 IBD-relative pairs, were followed-up for up to 16 years, totaling 164,979 person-years. We observed no difference in risk of hospital admissions between familial...... and sporadic cases of IBD. However, patients with familial CD had significantly higher risk of major surgery than sporadic CD cases after 2 years of disease duration (hazard ratio, 1.62; 95% confidence interval, 1.26-2.07). Also, sensitivity analysis suggested a slightly reduced time from diagnosis to first......BACKGROUND: Easily accessible predictors of disease course in inflammatory bowel disease (IBD) are scarce, and it remains largely unknown whether a family history of IBD predicts the course of Crohn's disease (CD) and ulcerative colitis (UC). We aimed to compare the course of disease in familial...

  7. Toxoplasma gondii exposure and Parkinson's disease: a case?control study

    OpenAIRE

    Alvarado-Esquivel, Cosme; M?ndez-Hern?ndez, Edna Madai; Salas-Pacheco, Jos? Manuel; Ruano-Calder?n, Luis ?ngel; Hern?ndez-Tinoco, Jes?s; Arias-Carri?n, Oscar; S?nchez-Anguiano, Luis Francisco; Castellanos-Ju?rez, Francisco Xavier; Sandoval-Carrillo, Ada Agustina; Liesenfeld, Oliver; Ramos-Nev?rez, Agar

    2017-01-01

    Objectives: To determine the association between Toxoplasma gondii infection and Parkinson's disease and to investigate whether T. gondii seropositivity is associated with the general characteristics of patients with Parkinson's disease. Design Case–control study. Setting: Cases and controls were enrolled in Durango City, Mexico. Participants: 65 patients with Parkinson's disease and 195 age- and gender-matched control subjects without Parkinson's disease. Primary and secondar...

  8. A case of coats disease and concurrent anisometropic amblyopia

    Directory of Open Access Journals (Sweden)

    Nathan G. Lambert

    2016-12-01

    Conclusions and importance: This case demonstrates the importance of detecting and correcting for concurrent amblyopia in pediatric retina conditions that may, on fundus examination alone, appear to have a retinal cause for reduced visual acuity.

  9. A case-control study in chronic obstructive pulmonary disease

    African Journals Online (AJOL)

    Yomi

    2012-01-03

    Jan 3, 2012 ... hospital based age and sex matched 100 cases of COPD and 100 controls without COPD recruited from ... three dimensional configuration of the molecule, thus it ... are asthma, recurrent respiratory infections and familial.

  10. Autoimmune disease and risk for Parkinson disease A population-based case-control study

    DEFF Research Database (Denmark)

    Rugbjerg, K.; Friis, S.; Ritz, B.

    2009-01-01

    Objective: Inflammatory mediators are increased in autoimmune diseases and may activate microglia and might cause an inflammatory state and degeneration of dopaminergic neurons in the brain. Thus, we evaluated whether having an autoimmune disease increases the risk for developing Parkinson disease...... do not support the hypothesis that autoimmune diseases increase the risk for Parkinson disease. The decreased risk observed among patients with rheumatoid arthritis might be explained by underdiagnosis of movement disorders such as Parkinson disease in this patient group or by a protective effect...

  11. A Sporadic Case of Fabry Disease Involving Repeated Fever, Psychiatric Symptoms, Headache, and Ischemic Stroke in an Adult Japanese Woman

    National Research Council Canada - National Science Library

    Sawada, Jun; Katayama, Takayuki; Kano, Kohei; Asanome, Asuka; Takahashi, Kae; Saito, Tsukasa; Chinda, Junko; Nakagawa, Naoki; Sato, Nobuyuki; Kimura, Takashi; Yahara, Osamu; Momosaki, Ken; Nakamura, Kimitoshi; Hasebe, Naoyuki

    2015-01-01

    Fabry disease can cause various neurological manifestations. We describe the case of a Japanese woman with Fabry disease who presented with ischemic stroke, aseptic meningitis, and psychiatric symptoms...

  12. Rethinking the Poverty-disease Nexus: the Case of HIV/AIDS in South Africa.

    Science.gov (United States)

    Pienaar, Kiran

    2017-09-01

    While it is well-established that poverty and disease are intimately connected, the nature of this connection and the role of poverty in disease causation remains contested in scientific and social studies of disease. Using the case of HIV/AIDS in South Africa and drawing on a theoretically grounded analysis, this paper reconceptualises disease and poverty as ontologically entangled. In the context of the South African HIV epidemic, this rethinking of the poverty-disease dynamic enables an account of how social forces such as poverty become embodied in the very substance of disease to produce ontologies of HIV/AIDS unique to South Africa.

  13. Hip fractures and Parkinson's disease: A case series.

    Science.gov (United States)

    Coomber, Ross; Alshameeri, Zeiad; Masia, Antonio Francesco; Mela, Federico; Parker, Martyn J

    2017-12-01

    There are no specific guidelines for treating Parkinson's disease patients who present with a hip fracture. Here we present a large cohort of patients with Parkinson's disease who suffered hip fractures. Our aim was to assess for differences between a Parkinson's disease population and a non-Parkinson's disease population with hip fractures and make recommendations on management guidelines. We performed a comprehensive analysis of prospectively collected data on all patients with hip fracture who were admitted into our department over a period of 29 years. In total 9225 patients with hip fractures were included in this study, 452 (4.9%) patients had Parkinson's disease. The mobility scores were worse pre- and post-operatively in the Parkinson's group as were mini-mental scores and ASA grade. Post-operative complications were similar between the two groups, with no difference in dislocation rate or wound complications. However, other outcomes including mobility and mortality rate at 1year were worse in the Parkinson's group. These patients also had a longer hospital stay and were more likely to be immobile and discharged to an institution. We recommend that Parkinson's disease patients should be assessed more thoroughly in the peri-operative period and arrangement for rehab and discharge planning should commence as soon as possible following admission. The consent process should reflect longer hospital stays, worse mobility, higher mortality and increased likelihood of discharge to institution but concern over increased complications, specifically dislocation was not evident in our data. Copyright © 2017 Elsevier Ltd. All rights reserved.

  14. Chagas disease study using satellite image processing: A Bolivian case

    Science.gov (United States)

    Vargas-Cuentas, Natalia I.; Roman-Gonzalez, Avid; Mantari, Alicia Alva; Muñoz, Luis AnthonyAucapuma

    2018-03-01

    Remote sensing is the technology that has enabled us to obtain information about the Earth's surface without directly contacting it. For this reason, currently, the Bolivian state has considered a list of interesting applications of remote sensing in the country, including the following: biodiversity and environment monitoring, mining and geology, epidemiology, agriculture, water resources and land use planning. The use of satellite images has become a great tool for epidemiology because with this technological advance we can determine the environment in which transmission occurs, the distribution of the disease and its evolution over time. In that context, one of the important diseases related to public health in Bolivia is Chagas disease, also known as South American Trypanosomiasis. Chagas is caused by a blood-sucking bug or Vinchuca, which causes serious intestinal and heart long term problems and affects 33.4% of the Bolivian population. This disease affects mostly humble people, so the Bolivian state invests millions of dollars to acquire medicine and distribute it for free. Due to the above reasons, the present research aims to analyze some areas of Bolivia using satellite images for developing an epidemiology study. The primary objective is to understand the environment in which the transmission of the disease happens, and the climatic conditions under which occurs, observe the behavior of the blood-sucking bug, identify in which months occur higher outbreaks, in which months the bug leaves its eggs, and under which weather conditions this happens. All this information would be contrasted with information extracted from the satellite images and data from the Ministry of Health, and the Institute of Meteorology in Bolivia. All this data will allow us to have a more integrated understanding of this disease and promote new possibilities to prevent and control it.

  15. Hallervorden-Spatz disease: 2 cases of siblings

    Energy Technology Data Exchange (ETDEWEB)

    Song, Jong Gi; Kim, In One; Kim, Woo Sun; Yeon, Kyung Mo [College of Medicine Seoul National University, Seoul (Korea, Republic of)

    1994-04-15

    We report two patients with Hallervorden-Spatz disease, who were diagnosed by same MR findings of marked low signal intensity in the globus and substantia nigra. They presented with ataxic and spastic gait, intention tremor, delayed mental development, and dysarthria. They were 7 year-old male and 8 year-old female siblings, who were healthy until 3 years of age when they suffered from progressive symptoms. T2-weighted images showed marked low signal intensity in the globus pallidus and substantia nigra indicating an increased iron deposition, and it might suggest Hallervorden-Spatz disease.

  16. HYPNOSIS IN THE TREATMENT OF MORGELLONS DISEASE: A Case Study1

    Science.gov (United States)

    Gartner, Ashley M.; Dolan, Sara L.; Stanford, Matthew S.; Elkins, Gary R.

    2014-01-01

    Morgellons Disease is a condition involving painful skin lesions, fibrous growths protruding from the skin, and subcutaneous stinging and burning sensations, along with symptoms of anxiety, depression, fatigue, and memory and attention deficits. The etiological and physiological bases of these symptoms are unclear, making the diagnosis controversial and challenging to treat. There are currently no established treatments for Morgellons Disease. The following case example depicts treatment of a woman with Morgellons Disease using hypnotherapy. Data from this case example suggest that hypnotherapy is a promising intervention for the physical and psychological symptoms associated with Morgellons Disease. PMID:21390982

  17. Addison���s Disease Mimicking as Acute Pancreatitis: A Case Report

    OpenAIRE

    Chaudhuri, Sayani; Rao, Karthik N.; Patil, Navin; Ommurugan, Balaji; Varghese, George

    2017-01-01

    Over past two decades there has been significant improvement in medical field in elucidating the underlying pathophysiology and genetics of Addison���s disease. Adrenal insufficiency (Addison���s disease) is a rare disease with an incidence of 0.8/100,000 cases. The diagnosis may be delayed if the clinical presentation mimics a gastrointestinal disorder or psychiatric illness. We report a case of Addison���s disease presenting as acute pain in abdomen mimicking clinical presentation of acute ...

  18. Role of Alendronate in Managing Osteoporosis in Celiac Disease - Illustrative Case Report.

    Science.gov (United States)

    Widjaja, David; Kanneganti, Kalyan C; Patel, Madanmohan; Chilimuri, Sridhar S

    2011-02-01

    Management of bone density loss, as the result of calcium malabsorption in celiac disease, is critical in preventing premature bone fracture. As many of these patients need follow-up with primary care providers, internists are expected to be aware of screening and prompt management of osteopenia or osteoporosis in celiac disease. We present a case of a 32-year-old man with celiac disease who was diagnosed with osteoporosis. He was treated with calcium, vitamin D and alendronate which improved bone mineral density. This case illustrates the importance of using bisphosphonate in treating osteoporosis in celiac disease.

  19. Role of Alendronate in Managing Osteoporosis in Celiac Disease – Illustrative Case Report

    Science.gov (United States)

    Widjaja, David; Kanneganti, Kalyan C.; Patel, Madanmohan; Chilimuri, Sridhar S.

    2011-01-01

    Management of bone density loss, as the result of calcium malabsorption in celiac disease, is critical in preventing premature bone fracture. As many of these patients need follow-up with primary care providers, internists are expected to be aware of screening and prompt management of osteopenia or osteoporosis in celiac disease. We present a case of a 32-year-old man with celiac disease who was diagnosed with osteoporosis. He was treated with calcium, vitamin D and alendronate which improved bone mineral density. This case illustrates the importance of using bisphosphonate in treating osteoporosis in celiac disease. PMID:27957009

  20. Case report of Mikulicz`s disease: A modern concept of an old entity

    Directory of Open Access Journals (Sweden)

    Božić Ksenija

    2016-01-01

    Full Text Available Introduction. Modern knowlegde defines Mikulicz´s disease as a part of immunoglobulin G4-related disease. The main feature is the presence of lymphoplasmacytic infiltrates, immunoglobulin G4 plasma cells positivity, distinctive storiform fibrosis and moderate eosinophilia. Case report. A 59-years old male presented with a mild keratoconjuctivitis sicca and enlarged lacrimal and salivary glands during the last two years. Althought clinical presentation of the patient was typical, earlier testing did not pinpoint Mikulicz ´s disease. By typical clinical presentation, elevated serum immunoglobulin G4 level and histopathological finding of lacrimal glands tissue we diagnosed Mikulicz´s disease successfully treated with corticosteroid therapy. Conclusion. We reported the first case of IgG4-related Mikulicz´s disease in Serbia. Our report highlights IgG4-related Mikulicz` s disease as an important differential diagnosis with Sjögren`s syndrome and lymphoproliferative disease in rheumatological practice.

  1. Flow cytometry of duodenal intraepithelial lymphocytes improves diagnosis of celiac disease in difficult cases.

    Science.gov (United States)

    Valle, Julio; Morgado, José Mario T; Ruiz-Martín, Juan; Guardiola, Antonio; Lopes-Nogueras, Miriam; García-Vela, Almudena; Martín-Sacristán, Beatriz; Sánchez-Muñoz, Laura

    2017-10-01

    Diagnosis of celiac disease is difficult when the combined results of serology and histology are inconclusive. Studies using flow cytometry of intraepithelial lymphocytes (IELs) have found that celiac patients have increased numbers of γδ IELs, along with a decrease in CD3-CD103 + IELs. The objective of this article is to assess the role of flow cytometric analysis of IELs in the diagnosis of celiac disease in difficult cases. A total of 312 patients with suspicion of celiac disease were included in the study. Duodenal biopsy samples were used for histological assessment and for flow cytometric analysis of IELs. In 46 out of 312 cases (14.7%) the combination of serology and histology did not allow the confirmation or exclusion of celiac disease. HLA typing had been performed in 42 of these difficult cases. Taking into account HLA typing and the response to a gluten-free diet, celiac disease was excluded in 30 of these cases and confirmed in the remaining 12. Flow cytometric analysis of IELs allowed a correct diagnosis in 39 out of 42 difficult cases (92.8%) and had a sensitivity of 91.7% (95% CI: 61.5% to 99.8%) and a specificity of 93.3% (95% CI: 77.9% to 99.2%) for the diagnosis of celiac disease in this setting. Flow cytometric analysis of IELs is useful for the diagnosis of celiac disease in difficult cases.

  2. Spinal cord disease in children with malignancies: Clinical cases ...

    African Journals Online (AJOL)

    Spinal cord disease in children with known or suspected malignancy is an oncological emergency because it commonly implies malignant spinal cord compression (SCC). Since the outcome of SCC is primarily determined by the patient's neurological status at treatment initiation, the goal must be to establish the underlying ...

  3. Anemia: monosymptomatic celiac disease. A report of 3 cases

    NARCIS (Netherlands)

    Depla, A. C.; Bartelsman, J. F.; Mulder, C. J.; Tytgat, G. N.

    1990-01-01

    Patients with monosymptomatic celiac disease (CD) can escape diagnosis for a long period. Anemia is a common finding in CD, although anemia as the sole symptom is relatively unknown. We report on three patients who presented with iron deficiency anemia and no other symptom, in whom CD was considered

  4. Bowen's disease: Report of a case in a Nigerian man

    African Journals Online (AJOL)

    words: Bowen 's disease, Skin cancer blacks, Cutane- ous malignancy, Arsenical cancers. Résumé. La maladie de Bowen (carcinome cellulaire cutané squa— meux in situ), comme d'autres cancers de la peau, est rare parmi les noirs - 'a notre ...

  5. A case-control study in chronic obstructive pulmonary disease

    African Journals Online (AJOL)

    Yomi

    2012-01-03

    ., 2003) which suggests that the frequency of ZZ carriers are quite low in different parts of the world. The data of prevalence of COPD in. Asian countries is patchy and the disease burden is high. Studies on COPD in the Indian ...

  6. Ovine paratuberculosis: A confirmed case of Johne's disease in Libya

    African Journals Online (AJOL)

    Paratuberculosis (Johne's disease) was suspected in a herd of approximately 033 sheep after weight loss and scouring had increased in adult animals despite repeated treatment with anthelmintics, antibiotics, multivitamins and minerals. The herd is located near Tarhouna city. Herd history revealed that a total of 60 ewes ...

  7. Late onset Pompe disease- new genetic variant: Case report ...

    African Journals Online (AJOL)

    The patient was not given enzyme replacement therapy due to cost but received high protein therapy and Oxygen supplementation using Oxygen extractor machine. She is worsening due to respiratory failure. Conclusion: This is a new genetic variant isolated of late-onset Pompe disease which presents with almost pure ...

  8. Fabry's Disease: Case Series and Review of Literature | Wani ...

    African Journals Online (AJOL)

    Fabry's disease is an X‑linked lysosomal storage disorder caused by a deficiency of alpha‑galactosidase A enzyme with the progressive accumulation of globotriaosylceramide in vascular endothelial cells leading to cardiovascular, renal, gastrointestinal, neuropathic, lenticular, and dermatological manifestations. It is a rare ...

  9. Marchiafava-bignami disease with abnormal PET findings: case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hyung Soo [College of Medicine, Wonkwang Univ., Iksan (Korea, Republic of)

    2004-02-01

    We report the FDG PET findings in a patient with Marchiafava-Bignami disease (MBD) in whom there was diffusely reduced metabolism in the whole brain cortex and strongly decreased metabolism in the thalami. The use of FDG PET helps provide an understanding of the neurologic manifestations and prognosis of MBD.

  10. Pediatric Dupuytren's disease: case report and review of the literature

    African Journals Online (AJOL)

    especially in the setting of a strong family history. Ann Pediatr Surg 9:127–130 c 2013 Annals of Pediatric. Surgery. Annals of Pediatric Surgery 2013, 9:127–130. Keywords: contracture, Dupuytren's disease, palmar fibromatosis. Department of Surgery, Berkshire Medical Center/University of Massachusetts. Medical School ...

  11. Bowen's disease: Report of a case in a Nigerian man

    African Journals Online (AJOL)

    Bowen's disease (cutaneous squamous cell carcinoma in situ), like other cancers of the skin, is rare in black ... although he might have had brief occupational exposu re to arsenic, it is unlikely that this was the cause ... condition from common skin problems seen in the tropics such as fungal and bacterial skin infections but.

  12. Fabry's Disease: Case Series and Review of Literature

    African Journals Online (AJOL)

    the recipient, developed progressive worsening of serum ... Departments of Nephrology and 1Internal Medicine, Sher‑I‑Kashmir Institute of Medical Sciences, Srinagar, ..... Conflicts of interest. There are no conflicts of interest. References. 1. McGovern MM, Desnick RJ. Lysosomal storage diseases. In: Goldman L, editors.

  13. Carcinoid heart disease: two clinical cases and a review | Weinreich ...

    African Journals Online (AJOL)

    However, a multidisciplinary team approach has improved the prognosis and quality of life for patients with carcinoid heart disease. Therapy includes somatostatin analogues and treatment for heart failure, removal of primary or metastatic tumour deposits, valve replacement in the presence of valvular involvement, and ...

  14. Menetrier's Disease: Case Report | Edino | Nigerian Journal of ...

    African Journals Online (AJOL)

    Conservative treatment by aggressive eradication of H.pylori improves patients' symptoms, and abrogates the protein losing enteropathy characteristic of the disease. Surgery by total gastrectomy offers the best definitive treatment as it removes the risk of gastric cancer in a gastric remnant. (Nig J Surg Res 2001; 3: 165 ...

  15. An Unusual Case of Monolobar Caroli’s Disease

    OpenAIRE

    Gomez, Anthony J; Robert J Bailey

    1994-01-01

    A 27-year-old male with recurrent upper abdominal pain was found to have a suspicious mass in the right hepatic lobe. Right hepatectomy was performed. Pathological examination and further radiological evaluation proved this to be a focal form of Caroli’s disease.

  16. Gaucher's disease: Report of 11 cases with review of literature ...

    African Journals Online (AJOL)

    The visceral symptoms were serious and the neurological features included seizures, hypertony, squint, physical developmental milestones delay. Both of them died. Gaucher's disease is not exceptional in Morocco. Type 1 is the most common type. We noted through this study some diagnostic difficulties as the diagnosis

  17. Chronic Chagas disease with advanced cardiac complications in Japan: Case report and literature review.

    Science.gov (United States)

    Imai, Kazuo; Maeda, Takuya; Sayama, Yusuke; Osa, Morichika; Mikita, Kei; Kurane, Ichiro; Miyahira, Yasushi; Kawana, Akihiko; Miura, Sachio

    2015-10-01

    Due to the unprecedented recent increases in global migration, Chagas disease has become a global health threat and its epidemiology has drastically changed. Here we describe the first case in Japan of benznidazole treatment for chronic Chagas disease characterized by advanced cardiac complications. A 55-year-old Japanese-Brazilian woman who had previously presented with chronic heart failure was diagnosed as having Chagas disease and treated with benznidazole to prevent aggravation of her cardiac complications. However, benznidazole administration was stopped on day 56 due to severe drug-induced peripheral neuritis. Sixteen months later, her serologic test for Trypanosoma cruzi is still positive and she is being followed regularly by cardiology. Despite an estimated prevalence of over 4000 cases in Japan, only a few cases of Chagas disease have been reported. A Medline search revealed only 7 cases identified between 1995 and 2014 in Japan: in 6 cases, complications of chronic Chagas disease were apparent at the time of presentation, and sudden death occurred in 2 of these cases due to cardiac complications. This clinical case and literature review re-emphasize the urgent need to establish a surveillance network and improve the diagnostic methods and treatment framework for Chagas disease in Japan. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  18. Management of endolymphatic sac tumors: sporadic cases and von Hippel-Lindau disease.

    Science.gov (United States)

    Nevoux, Jérôme; Nowak, Catherine; Vellin, Jean-François; Lepajolec, Christine; Sterkers, Olivier; Richard, Stéphane; Bobin, Serge

    2014-06-01

    To analyze the difference between the endolymphatic sac tumors (ELSTs) in sporadic cases and in von Hippel-Lindau (VHL) disease. Retrospective case review in a tertiary referral center. Fourteen cases of ELST, occurring since 1998, were reviewed. We analyzed the initial symptoms, characteristics of the tumor, treatment, sequelae, and follow-up for each group. The ELSTs were sporadic in 6 cases and associated with VHL disease in 8 cases. The mean age at the time of the first surgery was 26 years (range, 12-41). All except two of the patients presented with a unilateral tumor. The initial symptoms were hearing loss (n = 9), tinnitus (n = 7), and/or vertigo (n = 5). Hearing loss was more prevalent in the sporadic cases. Preoperative arteriography was performed for 4 patients, with embolization performed for 1 patient. The size of the tumor was significantly larger in the sporadic cases (31.7 mm) than in the cases of VHL disease (19.3 mm). The surgical approach was more extensive in the sporadic cases. The surgeons found 2 types of tumors. Cystic tumors with massive bleeding invading the surrounding structures (the dura mater or jugular bulb) were more common in the sporadic cases. Fibrous tumors that infiltrate the bone and have moderate bleeding were more common in the cases associated with VHL disease.Two patients with small lesions were not operated on but were followed for 6 years without tumor growth. They died of metastasis from gastric and kidney cancer. Four recurrences occurred during the 14 years of follow-up. Four facial palsies and 8 cases of profound deafness were encountered postoperatively. Sporadic tumors are more aggressive than those associated with VHL disease. Complete surgical resection should be the goal of treatment. Preoperative angiography with embolization is recommended. In some cases, embolization may be impossible, and preoperative or postoperative radiotherapy should be discussed.

  19. Paediatric cardiac anaesthesia in sickle cell disease: a case series ...

    African Journals Online (AJOL)

    Paediatric patients with SCD and congenital heart defects may require anaesthesia for corrective cardiac surgery on cardiopulmonary bypass (CPB). During the perioperative period these high-risk patients may suffer significant complications when exposed to the conditions that favour erythrocyte sickling. This case series ...

  20. [Kluyvera ascorbata. Case report of a patient with Crohn's disease].

    Science.gov (United States)

    Medina López, R A; García Ramos, J B; Congregado Ruíz, B; Ortega Mariscal, J; Sánchez Gómez, E

    2001-01-01

    For the not frequent, we contributed a new case of infection urinary produced by the I generate Kluyvera. We make a bibliographical review, clinical expression of the same and we insisted in a series of peculiarities, you like the appearance give because of the treatment pharmacologic and their intestinals.

  1. Seasonal ataxia: a case report of a disappearing disease | Moyo ...

    African Journals Online (AJOL)

    Introduction: Seasonal ataxia is a clinical syndrome of acute cerebellar ataxia which follows ingestion of roasted larvae of Anaphe venata Butler, an alternative protein source consumed in western Nigeria. It was first reported in the 1950s in western Nigeria when it caused a wave of epidemics. This is the first case report of ...

  2. Neurological Manifestation of Behcet's Disease: A Case Report ...

    African Journals Online (AJOL)

    ... personality changes, and cerebral venous thrombosis. We present the case of A.G is a 26-year old male, was a student in a Nigerian tertiary institution and resided in Lagos and Ibadan. He presented with a 2-year history of progressive and recurrent headaches, genital and mouth ulcers and weakness of the left limbs.

  3. Ormond's diseasecase report | Ibnouf | Sudan Journal of Medical ...

    African Journals Online (AJOL)

    Here, we describe the management of 2 cases of idiopathic retroperitoneal fibrosis one in a police officer with diabetes mellitus and the other in a housewife. Keywords: bilateral hydronephrosis, retroperitoneal fibrosis, surgical ureterolysis, bilateral hydronephrosis, tamoxifen. Sudan Journal of Medical Sciences Vol.

  4. Computerized tomography of Castleman's disease simulating a false renal artery aneurysm: a case report.

    Science.gov (United States)

    Friedman, L; Dubowitz, B; Papert, B; Porteous, P

    1987-07-01

    We report a case of retroperitoneal Castleman's disease of the hyaline vascular type simulating a false renal artery aneurysm. Excretory urography with computerized tomography and angiographic findings are presented. All 3 investigations demonstrated a homogeneously enhancing hypervascular retroperitoneal mass.

  5. Surgery in Pediatric Crohn Disease: Case Series from a Single Tertiary Referral Center

    Directory of Open Access Journals (Sweden)

    Rita Lourenço

    2016-07-01

    Conclusion: Surgical treatment of CD is a valid alternative in selected cases, contributing to the resolution of acute complications and maintenance of remission, allowing disease-free interval and nutritional recovery.

  6. MR findings in acute Lyme disease affecting the knee. A case report

    Energy Technology Data Exchange (ETDEWEB)

    Cavallaro, A.; Harrer, T.; Richter, H.; Bautz, W.; Fellner, F.A. [Friedrich-Alexander-Univ., Erlangen-Nuernberg (Germany)

    2002-07-01

    In this paper we report a case with primarily unspecific arthralgia after surgical therapy of hallux valgus deformity and consecutive reflex sympathetic dystrophy in which MR led to the diagnosis of Lyme disease. (orig.)

  7. Pylephlebitis and Crohn’s disease: A rare case of septic shock

    Directory of Open Access Journals (Sweden)

    Stefano Scaringi

    2017-01-01

    Conclusion: This case highlights the importance of promptly considerate and treat mesenteric pylephlebitis in presence of a septic shock in a Crohn’s disease patient who is not showing clinical signs of peritonitis.

  8. [Severe cases with hand, foot and mouth disease: data based on national pilot hand, foot and mouth disease surveillance system].

    Science.gov (United States)

    Zheng, Y M; Chang, Z R; Jiang, L L; Ji, H; Chen, G P; Luo, P; Pan, J J; Tian, X L; Wei, L L; Huo, D; Miao, Z P; Zou, X N; Chen, J H; Liao, Q H

    2017-06-10

    Objective: To investigate the clinical severity, etiological classification and risk factors of severe cases with hand, foot and mouth disease (HFMD). Methods: A total of 1 489 records on severe and fatal HFMD cases reported to the national pilot surveillance system of HFMD were used to analyze the demographic, medical treatment, etiological classification of the cases. Treatment outcome related risk factors were also studied with multi-variable stepwise logistic regression method. Results: Seven out of the 1 489 severe HFMD cases died of this disease. A total of 960 (72.9%) were under three years old and 62.9% were male and most of the cases (937, 62.9%) resided in rural areas. Among all the cases, 494 (33.2%) went to seek the first medical assistance at the institutions of village or township level. Durations between disease onset and first medical attendance, being diagnosed as the disease or diagnosed as severe cases were 0(0-1) d, 1 (0-2) d and 2 (1-4) d, respectively. In total, 773 (51.9%) of the severe HFMD cases were diagnosed as with aseptic meningitis, 260 (17.5%) with brainstem encephalitis, 377 (25.3%) with non-brainstem encephalitis, 6 (0.4%) with encephalomyelitis, 1 (0.1%) with acute flaccid paralysis, 4 (0.3%) with pulmonary hemorrhage/pulmonary edema and 68 (4.6%) with cardiopulmonary failure. Of the etiologically diagnosed 1 217 severe and fatal HFMD cases, 642 (52.8%) were with EV71, other enterovirus 261 (21.5%), Cox A16 36 (3.0%), 1 (0.1%) with both EV71 and Cox A16. However, 277 (22.8%) showed negative on any pathogenic virus. Complication (Z=3.15, P=0.002) and duration between onset and diagnosed as severe cases (Z=3.95, P<0.001) were shown as key factors related to treatment outcomes. Conclusions: Most severe HFMD cases appeared in boys, especially living in the rural areas. Frequently seen complications would include aseptic meningitis, non-brainstem encephalitis and brainstem encephalitis. EV71 was the dominant etiology for severe and

  9. A case study on point process modelling in disease mapping

    DEFF Research Database (Denmark)

    Møller, Jesper; Waagepetersen, Rasmus Plenge; Benes, Viktor

    2005-01-01

    We consider a data set of locations where people in Central Bohemia have been infected by tick-borne encephalitis (TBE), and where population census data and covariates concerning vegetation and altitude are available. The aims are to estimate the risk map of the disease and to study the dependen...... the risk of TBE. Model validation is based on the posterior predictive distribution of various summary statistics.......We consider a data set of locations where people in Central Bohemia have been infected by tick-borne encephalitis (TBE), and where population census data and covariates concerning vegetation and altitude are available. The aims are to estimate the risk map of the disease and to study the dependence...

  10. Morgellons disease, illuminating an undefined illness: a case series

    OpenAIRE

    Harvey, William T; Bransfield, Robert C; Mercer, Dana E; Wright, Andrew J; Ricchi, Rebecca M; Leitao, Mary M

    2009-01-01

    Abstract Introduction This review of 25 consecutive patients with Morgellons disease (MD) was undertaken for two primary and extremely fundamental reasons. For semantic accuracy, there is only one "proven" MD patient: the child first given that label. The remainder of inclusive individuals adopted the label based on related descriptions from 1544 through 1884, an internet description quoted from Sir Thomas Browne (1674), or was given the label by practitioners using similar sources. Until now...

  11. MR imaging of adult glomerulocystic kidney disease; A case report

    Energy Technology Data Exchange (ETDEWEB)

    Egashira, K.; Nakata, H.; Hashimoto, O.; Kaizu, K. (University of Occupational and Environmental Health School of Medicine, Kitakyushu (Japan). Dept. of Radiology University of Occupational and Environmental Health School of Medicine, Kitakyushu (Japan). Dept. of Medicine 1)

    1991-05-01

    A 59-year-old man with hypertension and severe renal dysfunction was diagnosed as having adult glomerulocystic kidney disease. MR imaging of the kidney showed a diffuse reduction of the intensity of the renal cortex with a loss of normal cortico-medullary differentiation of T1-weighted images. Numerous small cortical cysts were also demonstrated. These MR findings complemented the results of the biopsy and were useful for making a definitive diagnosis. (orig.).

  12. Pica in children with sickle cell disease: two case reports.

    Science.gov (United States)

    O'Callaghan, Erin T; Gold, Jeffrey I

    2012-12-01

    Children with sickle cell disease (SCD) are at greater risk for developing pica compared to other children. This comorbidity can result in harmful medical and nutritional, and neurodevelopmental consequences. This article will describe the medical, nutritional, and psychosocial functioning in two children with SCD and pica in order to illustrate the potential complications and correlates of this co-morbidity. In addition, the clinical implications of pica in children with SCD will be discussed. Copyright © 2012 Elsevier Inc. All rights reserved.

  13. Darier disease with oral and esophageal involvement: A case report

    Directory of Open Access Journals (Sweden)

    Magesh Karuppur Thiagarajan

    2011-01-01

    Full Text Available A 58-year-old man presented with itchy papular eruptions all over the body since 15 years. Intraoral examination revealed raised papular lesions on the labial mucosa, hard palate, and tongue. The histopathology of the oral and skin lesions was confirmative of Darier disease (DD. This patient also showed esophageal involvement, which was confirmed histopathologically. Such a presentation of DD, with oral and esophageal involvement, is rare.

  14. Autosomal recessive polycystic kidney disease. A case report.

    OpenAIRE

    Hernando Diocaretz V; Andrea Abásolo G.; Marcela Valenzuela A.; Nicole Bascur P.

    2015-01-01

    INTRODUCTION: Polycystic Kidney Disease is a genetic disorder characterized by progressive cystic dilations of the renal ducts, presenting as autosomal dominant or recessive forms with an incidence of 1 in 1.000 and 1 in 20.000 births, respectively, according to international series. The autosomal recessive variety can be lethal in the neonatal period due to respiratory failure secondary to pulmonary hypoplasia and can manifest during childhood with hypertension, short st...

  15. Psychiatric Symptoms in Childhood Wilson’s Disease: Case Reports

    Directory of Open Access Journals (Sweden)

    Sevcan Karakoç Demirkaya

    2016-12-01

    Full Text Available Various psychiatric symptoms/signs have been identified since the identification of Wilson’s disease (WD. Every patient with WD suffers from one or more psychiatric problems (organic dementia, psychosis, and impulsivity across the disease course. Sometimes, insidious symptoms, such as behavioral changes, failure in school performance, and disturbances in hand-eye coordination may be seen before the onset of neurologic presentation. In this report, five patients, who were diagnosed with WD and followed up in the Child Neurology Unit, were assessed by a Diagnostic and Statistical Manual of Mental Disorders-4-based semistructured psychiatric interview (Schedule for Affective Disorders and Schizophrenia for School-Age Children. All patients had psychiatric symptoms. One patient had a history of a manic episode and the other had a history of a psychotic disorder at the initial stage of WD. Psychiatric symptoms coexist mostly with neurologic signs in patients with WD. In this sense, pediatric neurological consultation and copper screening are lifesaving in excluding organic etiology. However, WD is a lifelong treatment-requiring disease and psychiatric evaluation of the patients is essential.

  16. Yellow fever vaccine-associated neurological disease, a suspicious case.

    Science.gov (United States)

    Beirão, Pedro; Pereira, Patrícia; Nunes, Andreia; Antunes, Pedro

    2017-03-02

    A 70-year-old man with known cardiovascular risk factors, presented with acute onset expression aphasia, agraphia, dyscalculia, right-left disorientation and finger agnosia, without fever or meningeal signs. Stroke was thought to be the cause, but cerebrovascular disease investigation was negative. Interviewing the family revealed he had undergone yellow fever vaccination 18 days before. Lumbar puncture revealed mild protein elevation. Cultural examinations, Coxiella burnetti, and neurotropic virus serologies were negative. Regarding the yellow fever virus, IgG was identified in serum and cerebrospinal fluid (CSF), with negative IgM and virus PCR in CSF. EEG showed an encephalopathic pattern. The patient improved gradually and a week after discharge was his usual self. Only criteria for suspect neurotropic disease were met, but it's possible the time spent between symptom onset and lumbar puncture prevented a definite diagnosis of yellow fever vaccine-associated neurological disease. This gap would have been smaller if the vaccination history had been collected earlier. 2017 BMJ Publishing Group Ltd.

  17. A literature review and case report of hand, foot and mouth disease in an immunocompetent adult

    OpenAIRE

    Oma?a-Cepeda, Carlos; Mart?nez-Valverde, Andrea; del Mar Sabater- Recolons, Mar?a; Jan?-Salas, Enric; Mar?-Roig, Antonio; L?pez-L?pez, Jos?

    2016-01-01

    Background: to report an uncommon case of hand, foot and mouth disease, (HFMD) in an immunocompetent adult; a highly infectious disease, characterized by the appearance of vesicles on the mouth, hands and feet, associated with coxsackieviruses and enteroviruses; including a literature review. Case report: a 23 year Caucasian male with no medical or surgical history, no allergies, was not taking any medication and smoked ten cigarettes a day, suffering from discomfort in the oral cavity; itchi...

  18. Case of buerger's disease Improve by Gi-Chim Treatment (Leech Therapy

    Directory of Open Access Journals (Sweden)

    Kwak Byung-min

    2009-06-01

    Full Text Available Objective : The purpose of this case is to show a case of buerger's disease improved by leech therapy. Methods : The patient received Leech Therapy and Oreintal medical therapy(acupunture and herb medicine. Result : We evaluate through visual analog scale(VAS, neurophatic total symptom score(TSS, fontaine grade and picture of patient's foot. Conclusion : Leech therapy and Oriental medical therapy had a good effect on buerger's disease.

  19. Case of buerger's disease Improve by Gi-Chim Treatment (Leech Therapy)

    OpenAIRE

    Kwak Byung-min; Hong Kwon-eui

    2009-01-01

    Objective : The purpose of this case is to show a case of buerger's disease improved by leech therapy. Methods : The patient received Leech Therapy and Oreintal medical therapy(acupunture and herb medicine). Result : We evaluate through visual analog scale(VAS), neurophatic total symptom score(TSS), fontaine grade and picture of patient's foot. Conclusion : Leech therapy and Oriental medical therapy had a good effect on buerger's disease.

  20. Pregnancy complicated by Caroli's disease with polycystic kidney disease: a case report and following observations.

    Science.gov (United States)

    Tsunoda, Mika; Ohba, Takashi; Uchino, Kikuko; Katabuchi, Hidetaka; Okamura, Hitoshi; Kaneki, Shizuo

    2008-08-01

    Caroli's disease and Caroli's syndrome are rare congenital disorders characterized by non-obstructive cystic dilatation of the intrahepatic bile ducts. These disorders are often associated with autosomal recessive polycystic kidney disease. A young woman at 11 weeks of gestation was referred to our hospital for proper management of Caroli's disease during pregnancy. Magnetic resonance imaging and laboratory tests revealed Caroli's disease with chronic renal failure caused by polycystic kidney disease. She received diet control, erythropoietin and prophylactic oral antibiotics. Her pregnancy course was uneventful, and she gave birth at 37 weeks of gestation. Thereafter, her renal function gradually worsened. Hemodialysis was begun 5 years after parturition. Though the courses of pregnancies complicated by Caroli's disease or Caroli's syndrome are variable and can include life-threatening conditions, uneventful outcomes can be expected if careful management prevents biliary and renal infection.

  1. Seasonal ataxia: A case report of a disappearing disease.

    Science.gov (United States)

    Ayoade Moyo, Adebiyi; Michael Bimbo, Fawale; Morenikeji Adeyoyin, Komolafe; Valentine Nnaemeka, Amadi; Oluwatoyin, Ganiyu; Victor Oladeji, Adeyeye

    2014-09-01

    Seasonal ataxia is a clinical syndrome of acute cerebellar ataxia which follows ingestion of roasted larvae of Anaphe venata Butler, an alternative protein source consumed in western Nigeria. It was first reported in the 1950s in western Nigeria when it caused a wave of epidemics. This is the first case report of this condition in the literature since 1993. We present the case of a 35 year old woman from western Nigeria who was admitted in October 2012 with acute onset of gait instability and bilateral hand tremors, preceded by several episodes of vomiting. She had ingested a meal containing roasted larvae of the African silkworm, 2 hours before the onset of vomiting. Seasonal ataxia is an important differential diagnosis of acute cerebellar ataxia among the indigenous ethnic population of western Nigeria.It is non-fatal and treatable, with complete resolution of symptoms usually following thiamine therapy.

  2. Castleman s Disease with an Unusual Radiological Presentation: A Case Report

    Directory of Open Access Journals (Sweden)

    Nesrin Ocal

    2014-02-01

    Full Text Available Castleman%u2019s disease is a rare lymphoproliferative pathology which has two clinicoradiological forms; localized disease and disseminated disease. Histopathologically, Castleman%u2019s disease is evaluated in three groups; hyaline-vascular type, plasma cell type and mixed type. Patients are often asymptomatic and are diagnosed by radiological findings. The most common radiological presentation is huge lymph nodes in mediastinal area. Lymphadenopathy is most frequently observed in paratracheal lymph nodes. We wanted to emphasize this very rare entity and remind you this disease by the mean of a case with different radiological appearance.

  3. A Case of Neuro-Behcet's Disease Presenting with Central Neurogenic Hyperventilation.

    Science.gov (United States)

    Alkhachroum, Ayham M; Saeed, Saba; Kaur, Jaspreet; Shams, Tanzila; DeGeorgia, Michael A

    2016-03-11

    Behcet's disease is a chronic inflammatory disorder usually characterized by the triad of oral ulcers, genital ulcers, and uveitis. Central to the pathogenesis of Behcet's disease is an autoimmune vasculitis. Neurological involvement, so called "Neuro-Behcet's disease", occurs in 10-20% of patients, usually from a meningoencephalitis or venous thrombosis. We report the case of a 46-year-old patient with Neuro-Behcet's disease who presented with central neurogenic hyperventilation as a result of brainstem involvement from venulitis. To the best of our knowledge, central neurogenic hyperventilation has not previously been described in a patient with Neuro-Behcet's disease.

  4. Active surveillance of Hansen's Disease (leprosy: importance for case finding among extra-domiciliary contacts.

    Directory of Open Access Journals (Sweden)

    Maria L N Moura

    Full Text Available Hansen's disease (leprosy remains an important health problem in Brazil, where 34,894 new cases were diagnosed in 2010, corresponding to 15.3% of the world's new cases detected in that year. The purpose of this study was to use home visits as a tool for surveillance of Hansen's disease in a hyperendemic area in Brazil. A total of 258 residences were visited with 719 individuals examined. Of these, 82 individuals had had a previous history of Hansen's disease, 209 were their household contacts and 428 lived in neighboring residences. Fifteen new Hansen's disease cases were confirmed, yielding a detection rate of 2.0% of people examined. There was no difference in the detection rate between household and neighbor contacts (p = 0.615. The two groups had the same background in relation to education (p = 0.510, household income (p = 0.582, and the number of people living in the residence (p = 0.188. Spatial analysis showed clustering of newly diagnosed cases and association with residential coordinates of previously diagnosed multibacillary cases. Active case finding is an important tool for Hansen's disease control in hyperendemic areas, enabling earlier diagnosis, treatment, decrease in disability from Hansen's disease and potentially less spread of Mycobacterium leprae.

  5. [A case of simple type Caroli's disease confined to right lobe of the liver].

    Science.gov (United States)

    Kil, Ho; Choi, Eun Young; Jeong, Jee In; Park, Chan Sun; Park, Seon Mee; Kim, Seok Hyung; Park, Kil Sun; Jang, Lee Chan

    2007-10-01

    Caroli's disease is a rare congenital hepatobiliary disease characterized by multifocal segmental dilatation of intrahepatic bile ducts affecting all or parts of the liver. Two forms of Caroli's disease are described, the pure form and that associated with periportal fibrosis. The disease may diffusely affect the liver or be localized to one lobe or segment. Less than 20% of all reported cases of Caroli's disease are monolobar type. We report a case of simple type Caroli's disease confined to right lobe of the liver in a 22 year old man. He was admitted due to right upper abdominal pain and diagnosed by magnetic resonance cholangiopancreatography. He was treated with right hepatic lobectomy and recovered completely.

  6. Seronegative Coeliac Disease in Children: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Vinod Kolimarala

    2017-01-01

    Full Text Available Serology is frequently used for the diagnosis of coeliac disease in children; however, a small proportion of children are seronegative. We present a case of seronegative coeliac disease along with literature review to include diagnostic and management dilemmas.

  7. De Quervain disease caused by abductor pollicis longus tenosynovitis: a report of three cases.

    Science.gov (United States)

    Maruyama, Masahiro; Takahara, Masatoshi; Kikuchi, Noriaki; Ito, Kazuo; Watanabe, Tadayoshi; Ogino, Toshihiko

    2009-01-01

    De Quervain disease is caused by a stenosing tenosynovitis in the first dorsal compartment, and the main aetiology is extensor pollicis brevis (EPB) tenosynovitis. We encountered three cases in which EPB tenosynovitis was absent and abductor pollicis longus (APL) tenosynovitis was confirmed during operation. In the treatment of de Quervain disease, APL tenosynovitis should be paid as much attention as EPB tenosynovitis.

  8. Development and Validation of an Administrative Case Definition for Inflammatory Bowel Diseases

    Directory of Open Access Journals (Sweden)

    Ali Rezaie

    2012-01-01

    Full Text Available BACKGROUND: A population-based database of inflammatory bowel disease (IBD patients is invaluable to explore and monitor the epidemiology and outcome of the disease. In this context, an accurate and validated population-based case definition for IBD becomes critical for researchers and health care providers.

  9. Morgellons disease, illuminating an undefined illness: a case series.

    Science.gov (United States)

    Harvey, William T; Bransfield, Robert C; Mercer, Dana E; Wright, Andrew J; Ricchi, Rebecca M; Leitao, Mary M

    2009-07-01

    This review of 25 consecutive patients with Morgellons disease (MD) was undertaken for two primary and extremely fundamental reasons. For semantic accuracy, there is only one "proven" MD patient: the child first given that label. The remainder of inclusive individuals adopted the label based on related descriptions from 1544 through 1884, an internet description quoted from Sir Thomas Browne (1674), or was given the label by practitioners using similar sources. Until now, there has been no formal characterization of MD from detailed examination of all body systems. Our second purpose was to differentiate MD from Delusions of Parasitosis (DP), another "informal" label that fit most of our MD patients. How we defined and how we treated these patients depended literally on factual data that would determine outcome. How they were labeled in one sense was irrelevant, except for the confusing conflict rampant in the medical community, possibly significantly skewing treatment outcomes. Clinical information was collected from 25 of 30 consecutive self-defined patients with Morgellons disease consisting of laboratory data, medical history and physical examination findings. Abnormalities were quantified and grouped by system, then compared and summarized, but the numbers were too small for more complex mathematical analysis. The quantification of physical and laboratory abnormalities allowed at least the creation of a practical clinical boundary, separating probable Morgellons from non-Morgellons patients. All the 25 patients studied meet the most commonly used DP definitions. These data suggest Morgellons disease can be characterized as a physical human illness with an often-related delusional component in adults. All medical histories support that behavioral aberrancies onset only after physical symptoms. The identified abnormalities include both immune deficiency and chronic inflammatory markers that correlate strongly with immune cytokine excess. The review of 251

  10. [A rare case of Itsenko-Cushing disease accompanied by gangrene of the fingers and cryoglobulinemia].

    Science.gov (United States)

    Petkova, M; Manov, A; Baleva, M; Tsanev, A

    1990-01-01

    A case of a woman with Itsenko [correction of Icenko]-Cushing's disease and a rare complication--necrosis of the fingers of the left hand--is presented. Besides the known factors of hypercorticism injuring the vascular wall, cryoglobulinemia was found in the patient. It is probably secondary in this disease and points out the complicated changes in the immunologic state of the patients with Itsenko [correction of Icenko]-Cushing's disease.

  11. Rosai-Dorfman Disease Involving Multiple Organs: An Unusual Case with Poor Prognosis

    Directory of Open Access Journals (Sweden)

    Fandresena Arilala Sendrasoa

    2016-01-01

    Full Text Available Rosai-Dorfman disease is a rare, benign histiocytic proliferative disorder that usually affects the lymph nodes. Although extranodal involvement has been reported in diverse sites, manifestation in the cardiovascular system is extremely rare. Specifically, cardiac involvement in Rosai-Dorfman disease is an extraordinarily infrequent event. We describe a case of a 36-year-old female who presented Rosai-Dorfman disease of multiple organs including the heart, with poor prognosis.

  12. Hemiballismus Secondary to Neuro-Behçet Disease: Case Report

    OpenAIRE

    Turgay Demir; Şebnem Bıçakçı; Miray Erdem

    2014-01-01

    Behçet’s Disease is a multisystemic, inflammatory, recurrent disorder with oral and genital ulcerations along with cutaneous and opthalmic symptoms. Central nervous involvement called Neuro-Behçet is one of the clinical forms of Behçet’s Disease. Extrapyramidal findings are rare in Neuro-Behçet. We report here a case with Neuro-Behçet disease presented with acute hemiballismus.

  13. Role of Alendronate in Managing Osteoporosis in Celiac Disease ? Illustrative Case Report

    OpenAIRE

    Widjaja, David; Kanneganti, Kalyan C.; Patel, Madanmohan; Chilimuri, Sridhar S.

    2011-01-01

    Management of bone density loss, as the result of calcium malabsorption in celiac disease, is critical in preventing premature bone fracture. As many of these patients need follow-up with primary care providers, internists are expected to be aware of screening and prompt management of osteopenia or osteoporosis in celiac disease. We present a case of a 32-year-old man with celiac disease who was diagnosed with osteoporosis. He was treated with calcium, vitamin D and alendronate which improved...

  14. Correction of Genu Recurvatum Secondary to Osgood-Schlatter Disease: A Case Report

    Science.gov (United States)

    Bellicini, Christopher; Khoury, Joseph G

    2006-01-01

    Complications secondary to Osgood-Schlatter disease are rare, and there have been few reports on their treatment. Partial growth arrest of the proximal tibial physis as a result of Osgood-Schlatter disease has been infrequently described. Genu recurvatum from partial physeal arrest can cause cosmetic deformity, instability, pain, and weakness. We report a case of genu recurvatum secondary to Osgood-Schlatter disease treated successfully with proximal tibial osteotomy and distraction with a Taylor spatial frame. PMID:16789463

  15. Correction of Genu Recurvatum Secondary to Osgood-Schlatter Disease: A Case Report

    OpenAIRE

    Bellicini, Christopher; Khoury, Joseph G.

    2006-01-01

    Complications secondary to Osgood-Schlatter disease are rare, and there have been few reports on their treatment. Partial growth arrest of the proximal tibial physis as a result of Osgood-Schlatter disease has been infrequently described. Genu recurvatum from partial physeal arrest can cause cosmetic deformity, instability, pain, and weakness. We report a case of genu recurvatum secondary to Osgood-Schlatter disease treated successfully with proximal tibial osteotomy and distraction with a Ta...

  16. A Case of Immunotactoid Glomerulopathy with Rapid Progression to End-Stage Renal Disease

    Directory of Open Access Journals (Sweden)

    Shikha Jain

    2009-01-01

    Full Text Available Immunotactoid glomerulopathy (IGN is a rare immunoglobulin deposition disease. It is often mistaken for cryoglobulinemia or amyloidosis due to the similarities on biopsy findings. The disease progresses to end-stage renal disease (ESRD within 7 months to 10 years. This is the first case reported of a patient with a diagnosis of IGN who developed acute kidney injury (AKI and ESRD within 1 week of initial presentation.

  17. A case series of autoimmune diseases accompanied by incidentally diagnosed monoclonal gammopathy: is there a link between the two diseases?

    Science.gov (United States)

    Cho, Sun Young; Yang, Hyung-Seok; Jeon, You La; You, Eunkyoung; Lee, Hee Joo; Yoon, Hwi-Joong; Park, Tae Sung

    2014-07-01

    Although the etiology of plasma cell dyscrasia is poorly understood, there is evidence for immune dysregulation or sustained immune stimulation playing a pivotal role in the pathogenesis of these diseases, including chronic infection and autoimmune disorders. In this study, we report four autoimmune disease cases where monoclonal gammopathy (MG) was incidentally found during follow-up. We retrospectively reviewed the medical charts and laboratory test results in the following four cases: neuromyelitis optica, Kikuchi disease, Sjögren syndrome and ankylosing spondylosis. The four patients were older than 55 years and the male-to-female ratio was 2 : 2. The autoimmune disease in each case developed differently because two patients had coincidental detection of MG, whereas MG was detected 2 years and 10 years after diagnosis in the other two patients. The amount of M-components in the blood for two cases was ≤ 1 g/dL. For the other two subjects, M-components were ≥ 3 g/dL. A high prevalence of MG of undetermined significance (MGUS) has been noted in a series of patients with immune disorders, suggesting a possible association with MG. Further studies should focus on determining how MG relates to various clinical information and laboratory parameters, such as disease duration, disease activity and higher sedimentation rate. In the future, we also need to identify which stimuli, such as cytokine types and levels, can induce lymphocyte clonal transformation and the production of monoclonal antibodies. © 2014 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

  18. Occupational characteristics of cases with asbestos-related diseases in The Netherlands

    NARCIS (Netherlands)

    A. Burdorf (Alex); M. Dahhan; P. Swuste (Paul)

    2003-01-01

    textabstractOBJECTIVE: To describe the occupational background of cases with an asbestos-related disease and to present overall mesothelioma risks across industries with historical exposure to asbestos. METHODS: For the period 1990-2000, cases were collected from records held by

  19. Caroli disease in a 2 month old Nigerian-A case report | Ujunwa ...

    African Journals Online (AJOL)

    We present a rare and first case of Caroli Disease (CD) in a child who presents with abdominal distension, regurgitation of feeds, passage of greenish stools and fever, typical ultrasonographic and abdominal and x-ray findings. The purpose of presenting this case report is to highlight the distinctive manifestation of Caroli ...

  20. Risk Factors For Coronary Heart Disease : A Case Control Study

    Directory of Open Access Journals (Sweden)

    Zodpey Sanjay P

    1998-01-01

    Full Text Available Research question: What is the role of different risk factors in causation of CHD. Objective: To identify the risk factors contributing to the outcome of CHD. Design: Pair matched case-control study. Setting: Government Medical college, Nagpur, India, a tertiary care hospital. Participants: The study included 294 incident cases of CHD diagnosed by standard criteria. Each case was pair matched with one control for age and sex. Controls were selected from subjects attending the hospital for conditions other than CHD. Main Outcome Measure: CHD. Study variable: Socio-economic status (SES, physical inactivity (PI, family history of CHD, type A personality (TAP, cigarette smoking (CS, alcohol consumption (AC, obesity, oral contraceptive use (OC use, diabetes mellitus (DM, hypertension (HT and total serum cholesterol TSC. Results: On univariate analysis all the 11 risk factors were significantly associated with CHD. Conditional multiple logistic regression identified significant association of SES (OR 2.92, 95% CI 2.28-3.73, PI (OR 2.03, 95% CI 1.56-2.62, OC use (OR 3.96, 95% CI 1.11-14.02, obesity (OR 1.62, 95% CI 1.15-2.27, DM (OR 2.17, 95% CI 1.13-4.13, HT (OR 4.23, 95% CI 2.56-6399, TSC (OR 3.84, 95% CI 2.58-5.72 and CHD. Estimates of attributable risk proportion and population attributable risk proportion for the significant factors confirmed their etiological role and impact of these factors on the development of CHD in this population. Conclusion: This study identified significance of SES, PI, OC use, obesity, DM, HT and TSC in multivariate environment in the outcome of CHD.

  1. Modeling Disease Progression via Multisource Multitask Learners: A Case Study With Alzheimer's Disease.

    Science.gov (United States)

    Nie, Liqiang; Zhang, Luming; Meng, Lei; Song, Xuemeng; Chang, Xiaojun; Li, Xuelong

    2017-07-01

    Understanding the progression of chronic diseases can empower the sufferers in taking proactive care. To predict the disease status in the future time points, various machine learning approaches have been proposed. However, a few of them jointly consider the dual heterogeneities of chronic disease progression. In particular, the predicting task at each time point has features from multiple sources, and multiple tasks are related to each other in chronological order. To tackle this problem, we propose a novel and unified scheme to coregularize the prior knowledge of source consistency and temporal smoothness. We theoretically prove that our proposed model is a linear model. Before training our model, we adopt the matrix factorization approach to address the data missing problem. Extensive evaluations on real-world Alzheimer's disease data set have demonstrated the effectiveness and efficiency of our model. It is worth mentioning that our model is generally applicable to a rich range of chronic diseases.

  2. Association between the subepidermal autoimmune blistering diseases linear IgA disease and the pemphigoid group and inflammatory bowel disease: two case reports and literature review.

    Science.gov (United States)

    Shipman, A R; Reddy, H; Wojnarowska, F

    2012-07-01

    We report two patients with subepidermal autoimmune blistering diseases and inflammatory bowel disease (IBD) [one with linear IgA disease (LAD) and ulcerative colitis (UC), and the other with mucous membrane pemphigoid (MMP) and Crohn disease (CD)], and present a review of all previously reported cases. We reviewed the literature, and found 48 cases of patients with autoimmune blistering diseases and IBD. The blistering diseases were LAD (25 patients), bullous pemphigoid (BP) (21), MMP (1) and pemphigoid gestationis (1), while the IBD types comprised UC (40) and CD (8). We describe the clinical and immunopathological features and demographic characteristics of the patients. In all but one case, the diagnosis of IBD predated the development of the skin condition. The association was more common with LAD than BP. The immunopathogenesis of IBD and autoimmune blistering diseases is discussed and a link between them hypothesized, namely, that the presentation of multiple antigens to the immune system during the unregulated inflammation in the bowel wall results in excitation of the immune system and recognition of autologous antigens. © The Author(s). CED © 2012 British Association of Dermatologists.

  3. Chronic meningococcemia: a rare presentation of meningococcal disease: case report

    Directory of Open Access Journals (Sweden)

    Antonio Adolfo Guerra Soares Brandão

    2012-03-01

    Full Text Available Chronic meningococcemia is a rare clinical presentation within the spectrumof infections due to Neisseria meningitidis, which was first described in 1902.It is defined as a chronic and benign meningococcal bacteremia withoutmeningeal signs or symptoms with at least one week’s duration, characterizedby intermittent or continuous fever, polymorphic cutaneous rash, and migratoryarthropathy. The incidence is believed to be around 1:200,000 inhabitants. Itaffects predominantly young people and adults, and it is equally distributedbetween genders. Diagnosis may be challenging in the early stages of thedisease because of the difficulty in isolating Neisseria meningitidis (it reaches74% of positivity in advanced stages. Recently, the use of PCR for detectingNeisseria sp antigen in skin biopsies specimens has been considered for thoseculture-negative cases. The authors report a case of a 54-year-old femalepatient who sought medical attention for a five-day fever followed by arthralgiaand skin lesions predominantly in the lower limbs. The patient progressed toa toxemic clinical status that improved after the administration of antibiotictherapy, which consisted of oxacillin and ceftriaxone. The diagnosis of chronicmeningococcemia was performed after the isolation of Neisseria meningitidisin two different blood sample cultures. This is, to our knowledge, the firstcase of chronic meningococcemia described in Brazil (up to the writing of thisreport.

  4. Chronic behavior disturbance and neurocognitive deficits in neuro-Behcet's disease: a case study.

    Science.gov (United States)

    Fisher, Caroline A; Sewell, Katherine; Baker, Amy

    2016-06-01

    Behcet's disease is a vasculitis and multisystem inflammatory syndrome. Neurological abnormalities occur in a subset of patients. This report presents a case of neuro-Behcet's disease characterized by an initial onset of behavior changes prior to diagnosis, which evolved into a chronic behavioral syndrome. Neuroimaging investigations revealed progressive periventricular white matter and brainstem atrophy and lesions in the basal ganglia and deep white matter tracts, while neuropsychological investigations revealed reductions in information processing, executive functioning, and memory. The case indicates that behavior changes may be the first symptoms to emerge in Behcet's, before other defining features of the disease.

  5. [A-DROP system might result in underestimation of severity of cases with Legionnaires' disease].

    Science.gov (United States)

    Haranaga, Shusaku; Higa, Futoshi; Tateyama, Masao; Kishimoto, Kayoko; Naha, Yui; Tamayose, Maki; Nakamatu, Masashi; Akamine, Morikazu; Uchihara, Teruhito; Atsumi, Eriko; Yara, Satomi; Koide, Michio; Fujita, Jiro

    2008-05-01

    Fifteen cases of legionella pneumonia experienced in our department or associated hospital were included in this study. Each case was classified with the A-DROP system of the Japanese Respiratory Society Guidelines, and guidelines from the Infectious Diseases Society of America (IDSA) (1998) and then we compared the severity of the cases of pneumonia. Although 10 cases were classified as intermediate, 3 as severe, and 2 as extremely severe with the A-DROP system, most cases were classified as severe according to the IDSA guidelines. Among 5 fatal cases, three were ranked as intermediate with the A-DROP system. However all the fatal cases were ranked as severe in the IDSA guidelines. This study suggested that the A-DROP system might underestimate the severity of pneumonia in cases with legionella pneumonia.

  6. Depressive symptoms associated with hereditary Alzheimer's disease: a case description.

    Science.gov (United States)

    Contreras, Mónica Yicette Sánchez; Vargas, Paula Alejandra Osorio; Ramos, Lucero Rengifo; Velandia, Rafael Alarcón

    The authors describe a family group studied by the Centro de Biología Molecular y Biotecnología, and the Clínica de la Memoria, las Demencias y el Envejecimiento (Universidad Tecnológica de Pereira, Colombia), and evaluate the association of depressive symptoms with Alzheimer's disease (AD). This family presented a hereditary pattern for AD characterized by an early onset of dementia symptoms, a long preclinical depressive course, and, once the first symptoms of dementia appeared, a rapid progression to severe cognitive function impairment. The authors found a high prevalence of depressive symptoms in this family and propose that the symptoms could be an important risk factor for developing AD in the presence of other risk factors such as the APOE E4 allele.

  7. Jacob's disease associated with temporomandibular joint dysfunction: a case report.

    Science.gov (United States)

    Capote, Ana; Rodríguez, Francisco J; Blasco, Ana; Muñoz, Mario F

    2005-01-01

    Jacob's disease is regarded a rare condition in which a joint formation is established between an enlarged mandibular coronoid process and the inner aspect of the zygomatic body. Chronic temporomandibular joint (TMJ) disk displacement has been proposed as etiological factor of coronoid process enlargement. We present a 23-year-old woman with long-standing TMJ dysfunction and restricted interincisal opening, who developed a progressive zygomatic asymmetry. The patient underwent treatment by intraoral coronoidectomy and homolateral TMJ arthroscopy in the same surgery. The histopathological diagnosis of the coronoid sample was cartilage-capped exostoses with presence of articular fibrous cartilage. Although the low prevalence of this entity, it should be considered as a possible diagnosis in patients with progressive limitation of mouth opening, although a TMJ syndrome may be present as a cause of this entity.

  8. Resource Requirements Planning for Hospitals Treating Serious Infectious Disease Cases

    Energy Technology Data Exchange (ETDEWEB)

    Vugrin, Eric D. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Verzi, Stephen Joseph [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Finley, Patrick D. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Turnquist, Mark A. [Cornell Univ., Ithaca, NY (United States); Wyte-Lake, Tamar [Veterans Emergency Management Evaluation Center; Griffin, Ann R. [Veterans Emergency Management Evaluation Center; Ricci, Karen J. [Veterans Emergency Management Evaluation Center; Plotinsky, Rachel [Providence Health and Services, Renton, WA (United States)

    2015-02-01

    This report presents a mathematical model of the way in which a hospital uses a variety of resources, utilities and consumables to provide care to a set of in-patients, and how that hospital might adapt to provide treatment to a few patients with a serious infectious disease, like the Ebola virus. The intended purpose of the model is to support requirements planning studies, so that hospitals may be better prepared for situations that are likely to strain their available resources. The current model is a prototype designed to present the basic structural elements of a requirements planning analysis. Some simple illustrati ve experiments establish the mo del's general capabilities. With additional inve stment in model enhancement a nd calibration, this prototype could be developed into a useful planning tool for ho spital administrators and health care policy makers.

  9. Riga-Fede disease: A histological study and case report

    Directory of Open Access Journals (Sweden)

    Taghi Azizi

    2009-01-01

    Full Text Available Acute traumatic ulcerations and granulomas of the oral mucosa may result from physical damage via sharp foodstuffs, accidental biting, or talking. Most ulcerations heal within days. Others become chronic, reactive, and exophytic. A histopathologically unique type of chronic traumatic ulceration is the traumatic ulcerative granuloma with stromal eosinophilia (TUGSE. TUGSE exhibits a deep "pseudoinvasive" inflammatory reaction. This lesion may occur under the tongue in infants as a result of chronic mucosal trauma caused by mandibular anterior primary teeth during nursing and is termed Riga-Fede disease (RFD. The clinical presentation many resemble squamous cell carcinoma causing concern. RFD, although not uncommon, is not frequently reported. Thus, dental practitioners are unfamiliar with such lesions. We present a large Riga-Fede lesion in an infant along with the clinical management.

  10. Bilateral pleural effusion and interstitial lung disease as unusual manifestations of kikuchi-fujimoto disease: case report and literature review

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    Magdalena Fernandez-Martinez

    2010-11-01

    Full Text Available Abstract Background Kikuchi-Fujimoto's disease (KFD, also called histiocytic necrotizing lymphadenitis, is a rare, idiopathic and self-limited condition usually characterized by cervical lymphadenopathy and fever, most often affecting young patients. Aetiology is unknown. Differential diagnosis includes mainly malignant lymphoma, tuberculous lymphadenitis and systemic lupus erythematosus (SLE, so early diagnosis is crucial. Pleuropulmonary involvement due to isolated KFD has been seldom reported. Case Presentation a 32-year-old man, on treatment for iatrogenic hypothyroidism, was admitted due to high grade fever and painful cervical lymphadenopathies. KFD was diagnosed by lymph node biopsy. Some days after admission the patient got worse, he developed generalized lymphadenopathy, bilateral pleural effusion and interstitial lung disease. All of them resolved with prednisone and after two years of following up he remains asymptomatic and without evidence of any other associated disease. Conclusion Pleural effusion and interstitial lung disease are very uncommon manifestations of KFD. In our experience, treatment with oral prednisone was effective.

  11. Double gallbladder with different disease entities: A case report

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    Vijayaraghavan R

    2006-01-01

    Full Text Available We report a rare case of gallbladder duplication in a young male patient with acute pyocoele in one vesicle and acute cholecystitis with cystadenoma in the other; another unusual feature was the absent or obliterated cystic duct in the proximal vesicle and non-communication with the second vesicle or the biliary system. Ultrasound examination had suggested a septate gallbladder; the diagnosis of dual gallbladder was made per-operatively during separation of the distal moiety which was presumed to be an adherent duodenum initially. Intraoperative cholecystogram confirmed the diagnosis and both gallbladders were removed successfully laparoscopically. A high degree of awareness, detailed preoperative investigations when anomalies are suspected and intraoperative cholangiography are necessary for accurate detailing of the biliary tree to avoid inadvertent damage to the biliary ductal system and overlooking of second or third gallbladder during surgery.

  12. Unicentric castleman's disease located in the lower extremity: a case report

    Directory of Open Access Journals (Sweden)

    Schweyer Stefan

    2011-08-01

    Full Text Available Abstract Background Castleman's disease is a rare form of localized lymph node hyperplasia of uncertain etiology. Although the mediastinum is the most common site of involvement, rare cases occurring in lymph node bearing tissue of other localization have been reported, including only a few intramuscular cases. Unicentric and multicentric Castleman's disease are being distinguished, the latter harboring an unfavorable prognosis. Case Presentation Here, we present a case of unicentric Castleman's disease in a 37-year-old woman without associated neoplastic, autoimmune or infectious diseases. The lesion was located in the femoral region of the right lower extremity and surgically resected after radiographic workup and excisional biopsy examinations. The tumor comprised lymphoid tissue with numerous germinal centers with central fibrosis, onion-skinning and rich interfollicular vascularization. CD23-positive follicular dendritic cells were detected in the germinal centers and numerous CD138-positive plasma cells in interfollicular areas. The diagnosis of mixed cellularity type Castleman's disease was established and the patient recovered well. Conclusions In conclusion, the differential diagnosis of Castleman's disease should be considered when evaluating a sharply demarcated, hypervascularized lymphatic tumor located in the extremities. However, the developmental etiology of Castleman's disease remains to be further examined.

  13. Lyme Disease Manifestations in the Foot and Ankle: A Retrospective Case Series.

    Science.gov (United States)

    Miller, Jason R; Dunn, Karl W; Braccia, Domenick; Ciliberti, Louis J; Becker, Dina K; Hollinger, Joshua K; Brand, Shelley M

    Lyme disease is the result of Borrelia burgdorferi bacterial infection after exposure from a tick bite. A pathognomonic finding in early-stage Lyme disease is an expanding, red macular ring known as erythema migrans. Lyme arthritis is a late-stage manifestation of this disease, affecting the large, weightbearing joints with intermittent pain and swelling. The existing data on Lyme disease and subsequent arthritis have reported manifestations in the lower extremity, primarily in the knee and ankle and less commonly the small joints of the foot. We present a retrospective case series of 11 cases of painful arthritis in the foot and ankle with confirmatory Lyme disease testing. Copyright © 2015 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

  14. Cataracts and Dupuytren disease: a case report and review of the literature.

    Science.gov (United States)

    Cutolo, Carlo A; Lombardo, Sara; Verticchio Vercellin, Alice C; Bertone, Chiara; De Amici, Mara; Antoniazzi, Elena; Milano, Giovanni

    2012-11-08

    Purpose. Dupuytren disease is an inherited proliferative and progressive connective disease. Ectopic disease may, however, be located distant from the palmar fascia. 
Methods. Case report and review of the literature. 
Results. We describe a case of symmetric bilateral posterior subcapsular cataracts associated with symmetric bilateral Dupuytren disease and symmetric bilateral Ledderhose disease in a 56-year-old Caucasian man. His medical history was negative for glucocorticoids intake, diabetes, and exposure to radiation. Serum transforming growth factor β (TGF-β)1 concentration has been evaluated and was found to be almost double compared to the controls. 
Conclusions. We speculate that the TGF-β plays an important role for ocular and connective tissue disorders.

  15. Intrapartum electrocardiogram alteration in fetuses with congenital heart disease: a case-control study.

    Science.gov (United States)

    Gay, Estelle; Bornallet, Géraldine; Gaucherand, Pascal; Doret, Muriel

    2015-11-01

    To assess if the fetal electrocardiogram especially ST segment is modified by congenital heart diseases: modifications in frequencies of the different ST events and modifications in signal quality. A retrospective case-control study, comparing frequencies of the different ST events and the quality of the signal between fetuses with congenital heart diseases and fetuses without congenital heart disease. From 2000 to 2011, fifty-eight fetuses with congenital heart disease had their heart rate recording using a STAN device during labor. Control group was fetuses who were born just before a case and had a STAN as a second line for intrapartum surveillance. Cases and controls were matched on parity, gestational age at birth, presence of growth restriction and umbilical artery pH. Frequencies of the different ST event and quality of the signal were first analyzed for the global labor recording, and then separately for the first and the second phase of labor. No statistically significant difference in ST event frequencies between fetuses with congenital heart disease and the control group was found. Regarding the quality of the signal, 11.49% (±18.82) of recording time is a signal loss for fetus with congenital heart disease whereas only 5.18% (±10.67) for the control group (p=0.028). This is the first study investigating for intrapartum electrocardiogram modification in fetus with congenital heart disease. Congenital heart diseases do not modify frequencies of ST events. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  16. A CASE STUDY ON POINT PROCESS MODELLING IN DISEASE MAPPING

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    Viktor Beneš

    2011-05-01

    Full Text Available We consider a data set of locations where people in Central Bohemia have been infected by tick-borne encephalitis (TBE, and where population census data and covariates concerning vegetation and altitude are available. The aims are to estimate the risk map of the disease and to study the dependence of the risk on the covariates. Instead of using the common area level approaches we base the analysis on a Bayesian approach for a log Gaussian Cox point process with covariates. Posterior characteristics for a discretized version of the log Gaussian Cox process are computed using Markov chain Monte Carlo methods. A particular problem which is thoroughly discussed is to determine a model for the background population density. The risk map shows a clear dependency with the population intensity models and the basic model which is adopted for the population intensity determines what covariates influence the risk of TBE. Model validation is based on the posterior predictive distribution of various summary statistics.

  17. [Postoperative hypernatremia in liver hydatid disease: a case report].

    Science.gov (United States)

    Cobanoğlu, Ufuk

    2008-01-01

    Hydatid cyst, frequent in sheep raising countries, is a parasitic disease caused by a cestode, Echinococcus granulosus, and is spread to man by dog feces. A hydatid cyst, 7x8 cm in diameter, located on the dome of the liver of a 48 year old male patient was removed by thoracotomy. During the surgery, some hypertonic saline solution absorbed sponges were applied to the operation site. The same solution was used inside the cyst for scolocidal effect and the intraabdominal cavity was washed with the same solution. During the postoperative period, following extubation, a generalized convulsion developed. A serum sample of the patient was sent to the laboratory for testing of the serum sodium concentration. It was 185 mEq/L. The aim of this study was the consideration of hypernatremia and related neurologic signs depending upon the use of hypertonic saline solutions in hydatid cyst surgery for scolocidal effects. Because general anesthesia conceals neurological findings of hypernatremia, the serum sodium concentration should be followed carefully during surgery.

  18. Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Del Gaizo, Andrew [Emory University School of Medicine, Radiology Resident, Atlanta, GA (United States); Banerjee, Sima [Emory University School of Medicine, Musculoskeletal Radiology Department, Atlanta, GA (United States); Terk, Michael [Emory University School of Medicine, Radiology, Division of Musculoskeletal Imaging, Atlanta, GA (United States)

    2009-12-15

    Glycogen storage disease type II (GSDII), also referred to as Pompe disease or acid maltase deficiency, is a rare inherited condition caused by a deficiency in acid alpha-glucosidase (GAA) enzyme activity. The condition is often classified by age of presentation, with infantile and late onset variants (Laforet et al. J Neurology 55:1122-8, 2000). Late onset tends to present with progressive proximal muscle weakness and respiratory insufficiency (Winkel et al. J Neurology 252:875-84, 2005). We report two cases of biopsy confirmed adult onset GSDII, along with key Magnetic Resonance (MR) images. (orig.)

  19. Psoas compartment disease studied by computed tomography: analysis of 50 cases and subject review

    Energy Technology Data Exchange (ETDEWEB)

    Feldberg, M.A.M.; Koehler, P.R.; van Waes, P.F.G.M.

    1983-08-01

    Fifty patients with disease involving the psoas compartment were analyzed. There were 27 patients with inflammation, 17 with tumor, and 6 with hemorrhage. In all but 3 cases the disease did not originate in the psoas but spread there from neighboring structures. Disease processes followed the fascial planes in patients with abscesses and hemorrhage but were less predictable with tumors. All three types of lesions were similar radiographically and were often indistinguishable. Asymmetry of the muscle mass, regions of decreased density, and opacification of fat in the peri- and pararenal compartments were the most frequent signs of disease. Computed tomography is recommended as the diagnostic procedure of choice.

  20. A Case of Retroperitoneal Castleman’s Disease and an Update on the Latest Evidence

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    Eleftherios Spartalis

    2014-01-01

    Full Text Available Castleman’s disease is a benign lymphoproliferative condition with three distinct histological subtypes. Clinically it presents in either a unicentric or multicentric manner and can affect various anatomic regions, the mediastinum being the most frequent location. We herein present a rare case of unifocal retroperitoneal mass proved to be hyaline vascular Castleman’s disease. We perform a review of the current literature pertaining to such lesions, focusing on the management of the various clinical and histological variants of the disease. Surgical excision is the treatment of choice for unifocal Castleman’s disease.

  1. Adventitial cystic disease of the left external iliac vein: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Sang Hee; Shin, Hyun Woong; Lee, Yil Gi; Koo, Mi Jin [Daegu Fatima Hospital, Daegu (Korea, Republic of)

    2005-10-15

    Adventitial cystic disease (ACD) is a rare, but well-characterized vascular disease. It is most commonly seen in the popliteal artery, but it has also been reported in the venous system. The most commonly involved segment has been the common femoral vein; the disease resulted in luminal compromise and extremity swelling. We report here on a case of adventitial cystic disease of the left external iliac vein that was initially misdiagnosed as deep vein thrombosis in a 68-years-old man who presented with a painless swelling of his left leg.

  2. Depression in Parkinson's disease: A case-control study.

    Directory of Open Access Journals (Sweden)

    Yu-Hsuan Wu

    Full Text Available To evaluate the association between Parkinson's disease (PD prognosis and the patient's onset of depression.A total of 353 patients with newly-diagnosed PD and a history of depression were enrolled. On the basis of the onset of depression before or after PD diagnosis, we divided participants into PD patients with pre- or post-diagnostic depression. Cox's regression analysis was used to detect risks between the onset of depression and outcomes (including death, accidental injury, dementia, and aspiration pneumonia. The association between the onset of depression and levodopa equivalent dosage (LED and cumulative equivalent dosage of antidepressants were assessed.PD patients with post-diagnostic depression were associated with significantly higher risks of dementia (adjusted HR = 2·01, p = 0·015, and were older (58·5 ± 17·7 vs. 53·7 ± 18·6, p = 0·020 at the time of PD diagnosis than PD patients with pre-diagnostic depression. The higher incident rate of accidental injury was also noted in PD patients with post-diagnostic depression (48·1 vs. 31·3/1000 person-years, HR = 1·60, p = 0·041, but no statistical significance was observed in the adjusted hazard ratio (HR (HR = 1·52, p = 0·069. Otherwise, mortality, motor condition and severity of depression revealed no significant difference between PD patients with pre-diagnostic and post-diagnostic depression.PD patients with post-diagnostic depression had higher incidence of dementia, implying different onset time of depression could be associated with different subtypes and spreading routes which should be examined in follow-up studies.

  3. A Rare Case of Pott's Disease (Spinal Tuberculosis) Mimicking Metastatic Disease in the Southern Region of Denmark

    DEFF Research Database (Denmark)

    Osmanagic, Azra; Emamifar, Amir; Christian Bang, Jacob

    2016-01-01

    BACKGROUND Pott's disease (PD) or spinal tuberculosis is a rare condition which accounts for less than 1% of total tuberculosis (TB) cases. The incidence of PD has recently increased in Europe and the United States, mainly due to immigration; however, it is still a rare diagnosis in Scandinavian...... countries, and if overlooked it might lead to significant neurologic complications. CASE REPORT A 78-year-old woman, originally from Eastern Europe, presented to the emergency department with a complaint of nausea, vomiting, weight loss, and severe back pain. On admission she was febrile and had...

  4. A case of immunoglobulin G4-related respiratory disease with multiple lung cysts: A case report

    Directory of Open Access Journals (Sweden)

    Hironori Mikumo

    2017-01-01

    Full Text Available A 48-year-old man was admitted for evaluation of abnormal shadows on chest radiograph. Chest computed tomography (CT showed cysts, nodules, and cervical and axillary lymphadenopathies. Elevated serum levels of IgG4 and interleukin (IL-6 suggested IgG4-related disease (IgG4-RD or multicentric Castleman's disease (MCD. Histologic findings of the cervical lymph node and right lung S6 biopsies revealed numerous IgG4-positive plasma cells. Although CT findings of the lungs were atypical for IgG4-RD, consistent histologic findings, clinical symptoms, and laboratory data made us conclude IgG4-RD. Because histologic findings of IgG4-RD and MCD have similarities, differentiating between the two diseases should consider the clinical presentation.

  5. A Case of Sporadic Creutzfeldt-Jakob Disease Presenting as Conversion Disorder.

    Science.gov (United States)

    Yegya-Raman, Nikhil; Aziz, Rehan; Schneider, Daniel; Tobia, Anthony; Leitch, Megan; Nwobi, Onyi

    2017-01-01

    Background. Creutzfeldt-Jakob disease is a rare disorder of the central nervous system. Its initial diagnosis may be obscured by its variable presentation. This case report illustrates the complexity of diagnosing this disease early in the clinical course, especially when the initial symptoms may be psychiatric. It offers a brief review of the literature and reinforces a role for consultation psychiatry services. Methods. PUBMED/MEDLINE was searched using the terms "Creutzfeldt-Jakob disease", "psychiatric symptoms", "conversion disorder", "somatic symptom disorder", "functional movement disorder", and "functional neurologic disorder". Case. The patient was a 64-year-old woman with no prior psychiatric history who was initially diagnosed with conversion disorder and unspecified anxiety disorder but soon thereafter was discovered to have Creutzfeldt-Jakob disease. Discussion. This case highlights the central role of psychiatric symptoms in early presentations of Creutzfeldt-Jakob disease. Still, few other cases in the literature report functional neurological symptoms as an initial sign. The consultation psychiatrist must remain alert to changing clinical symptoms, especially with uncharacteristic disease presentations.

  6. Reducing selection bias in case-control studies from rare disease registries

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    Mistry Pramod K

    2011-09-01

    Full Text Available Abstract Background In clinical research of rare diseases, where small patient numbers and disease heterogeneity limit study design options, registries are a valuable resource for demographic and outcome information. However, in contrast to prospective, randomized clinical trials, the observational design of registries is prone to introduce selection bias and negatively impact the validity of data analyses. The objective of the study was to demonstrate the utility of case-control matching and the risk-set method in order to control bias in data from a rare disease registry. Data from the International Collaborative Gaucher Group (ICGG Gaucher Registry were used as an example. Methods A case-control matching analysis using the risk-set method was conducted to identify two groups of patients with type 1 Gaucher disease in the ICGG Gaucher Registry: patients with avascular osteonecrosis (AVN and those without AVN. The frequency distributions of gender, decade of birth, treatment status, and splenectomy status were presented for cases and controls before and after matching. Odds ratios (and 95% confidence intervals were calculated for each variable before and after matching. Results The application of case-control matching methodology results in cohorts of cases (i.e., patients with AVN and controls (i.e., patients without AVN who have comparable distributions for four common parameters used in subject selection: gender, year of birth (age, treatment status, and splenectomy status. Matching resulted in odds ratios of approximately 1.00, indicating no bias. Conclusions We demonstrated bias in case-control selection in subjects from a prototype rare disease registry and used case-control matching to minimize this bias. Therefore, this approach appears useful to study cohorts of heterogeneous patients in rare disease registries.

  7. Politics, culture, and the legitimacy of disease: the case of Buerger's disease.

    Science.gov (United States)

    Lockwood, Stephen J; Bresler, Scott C; Granter, Scott R

    2016-09-01

    Thromboangiitis obliterans (TAO) or Buerger's disease is a rare form of vasculitis with distinctive clinical and pathological features that carries significant morbidity, often leading to amputation, and is strongly associated with tobacco smoking. Despite its distinctive clinicopathological characteristics, the existence of TAO as an entity sui generis was challenged for many years as it languished in relative obscurity. Then, as societal attitudes towards smoking changed, TAO not only became accepted as a disease entity, it quite literally became a poster child to illustrate the ills of smoking. Herein, we examine the history of TAO to illustrate the power of societal attitudes and politics in shaping medicine.

  8. Serous labyrinthitis as a manifestation of cat scratch disease: a case report

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    Kantas Ilias

    2009-09-01

    Full Text Available Abstract Introduction Cat scratch disease is an infectious disease transmitted by young cats, in which the principal causative factor is Bartonella henselae. The typical course of cat scratch disease is usually benign and self-limited and requires only supportive therapy. However, cases lasting up to 2 years have been reported, and more serious complications may occur. Many manifestations of the disease have been reported by different medical disciplines. Case presentation A case of cat scratch disease in a 71-year-old Greek woman with an unusual clinical course is presented here. Serous otitis media was combined with rotational vertigo due to labyrinthitis. The invaded ear was ipsilateral to the inoculation site. Conclusion Cervicofacial lymphadenopathy has been demonstrated as the most common otolaryngologic manifestation of cat scratch disease. Manifestation in the middle and inner ear has, to the best of our knowledge, not been reported before. Our report presents a patient with cat scratch disease with clinical signs and symptoms in the middle and inner ear.

  9. Autoimmune diseases induced by biological agents. A review of 12,731 cases (BIOGEAS Registry).

    Science.gov (United States)

    Pérez-De-Lis, Marta; Retamozo, Soledad; Flores-Chávez, Alejandra; Kostov, Belchin; Perez-Alvarez, Roberto; Brito-Zerón, Pilar; Ramos-Casals, Manuel

    2017-11-01

    Biological drugs are therapies designed to target a specific molecule of the immune system that have been linked with the development of autoimmune diseases. Areas covered: The BIOGEAS Registry currently collects information about nearly 13,000 reported cases of autoimmune diseases developed in patients exposed to biologics, including more than 50 different systemic and organ-specific autoimmune disorders, of which psoriasis (n=6375), inflammatory bowel disease (n=845), demyelinating CNS disease (n=803), interstitial lung disease (n=519) and lupus (n=369) were the most frequently reported. The main biologics involved were anti-TNF agents in 9133 cases (adalimumab in 4154, infliximab in 3078 and etanercept in 1681), immune checkpoint inhibitors in 913 (ipilimumab in 524 and nivolumab in 225), B-cell targeted therapies in 741 (rituximab in 678), and growth factor inhibitors in 549 cases (bevacizumab in 544). Even though targeting a particular immune molecule may be associated with an excellent clinical response in most patients, an unexpected autoimmune disease may arise in around 8 out of 10,000 exposed patients. Expert opinion: Following the increased use of biologics, the number and diversity of induced autoimmune diseases is increasing exponentially. Management of these disorders will be an increasing clinical challenge in the daily practice in the next years.

  10. A Case-Control study of the prevalence of neurological diseases in inflammatory bowel disease (IBD

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    Francisco de Assis Aquino Gondim

    2015-02-01

    Full Text Available Neurological diseases are common in inflammatory bowel disease (IBD patients, but their exact prevalence is unknown. Method We prospectively evaluated the presence of neurological disorders in 121 patients with IBD [51 with Crohn's disease (CD and 70 with ulcerative colitis (UC] and 50 controls (gastritis and dyspepsia over 3 years. Results Our standard neurological evaluation (that included electrodiagnostic testing revealed that CD patients were 7.4 times more likely to develop large-fiber neuropathy than controls (p = 0.045, 7.1 times more likely to develop any type of neuromuscular condition (p = 0.001 and 5.1 times more likely to develop autonomic complaints (p = 0.027. UC patients were 5 times more likely to develop large-fiber neuropathy (p = 0.027 and 3.1 times more likely to develop any type of neuromuscular condition (p = 0.015. Conclusion In summary, this is the first study to prospectively establish that both CD and UC patients are more prone to neuromuscular diseases than patients with gastritis and dyspepsia.

  11. Frameworks for risk communication and disease management: the case of Lyme disease and countryside users.

    Science.gov (United States)

    Quine, Christopher P; Barnett, Julie; Dobson, Andrew D M; Marcu, Afrodita; Marzano, Mariella; Moseley, Darren; O'Brien, Liz; Randolph, Sarah E; Taylor, Jennifer L; Uzzell, David

    2011-07-12

    Management of zoonotic disease is necessary if countryside users are to gain benefit rather than suffer harm from their activities, and to avoid disproportionate reaction to novel threats. We introduce a conceptual framework based on the pressure-state-response model with five broad responses to disease incidence. Influencing public behaviour is one response and requires risk communication based on an integration of knowledge about the disease with an understanding of how publics respond to precautionary advice. A second framework emphasizes how risk communication involves more than information provision and should address dimensions including points-of-intervention over time, place and audience. The frameworks are developed by reference to tick-borne Lyme borreliosis (also known as Lyme disease), for which informed precautionary behaviour is particularly relevant. Interventions to influence behaviour can be directed by knowledge of spatial and temporal variation of tick abundance, what constitutes risky behaviour, how people respond to information of varying content, and an understanding of the social practices related to countryside use. The frameworks clarify the response options and help identify who is responsible for risk communication. These aspects are not consistently understood, and may result in an underestimation of the role of land-based organizations in facilitating appropriate precautionary behaviour.

  12. Type 1 diabetes mellitus, coeliac disease, and lymphoma: a report of four cases.

    LENUS (Irish Health Repository)

    O'Connor, T M

    2012-02-03

    INTRODUCTION: Patients with Type 1 diabetes mellitus have a high prevalence of coeliac disease, symptoms of which are often mild, atypical, or absent. Untreated coeliac disease is associated with an increased risk of malignancy, particularly of lymphoma. We describe four patients with Type 1 diabetes mellitus and coeliac disease who developed lymphoma. CASE REPORTS: Two patients were male and two female. In three patients, coeliac disease and lymphoma were diagnosed simultaneously. Enteropathy-associated T cell lymphoma occurred in two patients, Hodgkin\\'s disease in one, and B cell lymphoma in one. Response to treatment was in general poor, and three patients died soon after the diagnosis of lymphoma was made. CONCLUSION: As the relative risk of lymphoma is reduced by a gluten-free diet, a high index of suspicion for coeliac disease should exist in all Type 1 diabetic patients with unexplained constitutional or gastrointestinal symptoms.

  13. Therapy Adherence in Crohn’s Disease: An Adult Case Study

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    Ronen Arai

    2010-05-01

    Full Text Available Patients with Crohn’s disease require long-term therapy and physician follow-up to treat symptoms, minimize complications of the disease, and address side effects that may occur due to therapeutic interventions. Once stabilized, it is not unusual for patients to question the need for continued therapy. This may be related to various factors including poor disease awareness, lack of adequate communication between the physician and the patient, not wanting to take medications chronically, and/or financial issues among a host of other possibilities. However, nonadherence can have a serious impact on morbidity and mortality in patients with Crohn’s disease. This case illustrates the management and stabilization of a patient with active Crohn’s disease and the use of diagnostic serological testing to aid in disease risk assessment and treatment guidance.

  14. Two cases of possible neuro-Sweet disease with meningoencephalitis as the initial manifestation

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    Go Makimoto

    2012-02-01

    Full Text Available We report 2 cases that were considered to be neuro-Sweet disease. They initially manifested with meningoencephalitis and no skin lesions, and rapidly improved with corticosteroid therapy. In both cases, patients complained of meningitic symptoms such as fever and headache, and HLA-B54 and -Cw1 turned out to be positive over the clinical course. Cerebrospinal fluid analysis showed increased levels of lymphocytes and protein. In case #1, fluid-attenuated inversion recovery (FLAIR, magnetic resonance imaging (MRI and diffusion-weighted images (DWI showed high-intensity signals in the right dorsal medulla oblongata, bilateral dorsal midbrain, and left thalamus. In case #2, FLAIR and DWI showed high-intensity signals in the bilateral cerebellar cortex and left caudate nucleus. Symptoms and MRI images were markedly improved in both cases after corticosteroid pulse therapy. According to published diagnostic criteria, these 2 cases were considered possible neuro-Sweet disease. These cases suggest that the combination of meningoencephalitis and HLA specificity is important to consider the possibility of neuro-Sweet disease, even without skin lesions.

  15. Perforated Duodenum – An Unusual Etiology of Fournier's Disease: A Case Report

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    Yung-Chin Lee

    2003-12-01

    Full Text Available Fournier's disease, a form of necrotizing fasciitis, is a rapidly progressing subcutaneous infection of the male genitalia. We report a case of Fournier's disease with the unusual etiology of a perforated duodenum. This patient suffered from progressive right scrotal swelling after percutaneous transhepatic cholangeal drainage. Scrotal exploration revealed a large abscess with muscle necrosis that had spread up to the right retroperitoneal space. Radiologic studies and second abdominal exploration documented the origin as a perforated duodenum. The pus distribution in this case suggested that the infection process differed from that in previous reports. In future cases of Fournier's disease involving previous abdominal events, we recommend that abdominal origins be carefully surveyed before scrotal exploration.

  16. Ruptured posterior ethmoidal artery aneurysm and Moyamoya disease in an adult patient. Case report.

    Science.gov (United States)

    Mélot, A; Chazot, J-V; Troude, L; De la Rosa, S; Brunel, H; Roche, P-H

    2016-06-01

    The association between Moyamoya disease and intracranial aneurysms is well described. In our case, we describe a unique aneurismal location and its management. We report the case of a 74-year-old woman affected by a Moyamoya disease who displayed a frontal lobe hematoma. The origin of the bleeding came from the rupture of a posterior ethmoidal artery aneurysm that was treated surgically with favourable outcome. This case of a ruptured posterior ethmoidal artery aneurysm in a Moyamoya patient illustrates the polymorphism of the vascular complications encountered in this disease. It stresses the need to obtain information from an angiographic investigation in order to select the best therapeutic option and to reduce procedural complications. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  17. Diagnostic delay in clinical practice: A case report of Coeliac disease

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    Ahmedul Kabir

    2016-08-01

    Full Text Available Once considered a gastrointestinal disease of childhood affecting mainly whites, Coeliac Disease is now recognized as a systemic disease that may affect persons of any age and many races and ethnic groups. In this paper we present a case of a 60-year-old woman presented with protein-losing enteropathy associated with partial villous atrophy on distal duodenal biopsy. In Coeliac enteropathy the changes in intestinal permeability is sufficient to cause excessive loss of protein into the gut leading to hypoproteinaemia. The patient had presented with peripheral oedema without liver or renal impairment. The case emphasizes that clinicians should have a heightened suspicion about the disease that may be present at any age in both sexes and in a wide variety of clinical circumstances.

  18. A rarity in breast pathology: A male case of Rosai-Dorfman disease and literature review.

    Science.gov (United States)

    El-Attrache, BenFauzi; Kapenhas, Edna; Morgani, Jack; Ahmed, Tahameena

    2017-01-01

    Rosai-Dorfman Disease (RDD) is a rare disease that normally presents with bilateral cervical lymph node enlargement. Systemic symptoms of fever and weight loss may be present but patients are usually asymptomatic. This benign disease tends to regress on its own without treatment but there have been cases that required treatment with steroids or chemotherapeutic regimes. Extranodal disease in the breast is extremely rare, with only three cases identified in the male breast. The patient in this study presented with an asymptomatic right breast lump identified incidentally. After excisional biopsy, a diagnosis of RDD was confirmed on immunochemistry and histopathology. Copyright © 2017 The Author(s). Published by Elsevier Ltd.. All rights reserved.

  19. POEMS syndrome associated with Castleman disease: a case report and literature review

    Directory of Open Access Journals (Sweden)

    Juan Kang

    2014-06-01

    Full Text Available Polyneuropathy, organomegaly, endocrinopathy, M proteins, and skin changes (POEMS syndrome is a multisystemic disorder that clinically manifests as paraneoplastic and monoclonal plasma cell dyscrasia. Its acronym is derived from its principal characteristics: polyneuropathy, organomegaly, endocrinopathy, M proteins, and skin changes. Here, the authors reported a case of POEMS syndrome that was also associated with Castleman disease. A 53-year-old female patient was admitted to our hospital with limb weakness, numbness, edema, abdominal distention, and fever. Physical examination revealed tetraplegia, paraesthesia, and hyporeflexia in all four limbs, in addition to lymphadenectasis, splenomegaly, skin hyperpigmentation, hypertrichosis, and pitting edema. Laboratory tests and imaging revealed thrombocytosis, hypothyroidism, diabetes, hydropericardium, hydrothorax, splenomegaly, and lymphadenectasis. Electromyography showed the characteristic patterns of both demyelinating disease and axonal degeneration. Serum protein electrophoresis revealed monoclonal immunoglobulin G-lambda paraproteins. Histological examination clearly diagnosed the disease as the hyaline vascular subtype. The final diagnosis in this case was POEMS syndrome in association with Castleman disease.

  20. Visual art therapy in sporadic Creutzfeldt-Jakob disease: a case study.

    Science.gov (United States)

    Shrestha, Rajeet; Trauger-Querry, Barbara; Loughrin, Athena; Appleby, Brian S

    2016-01-01

    This paper describes the diagnostic and treatment utility of visual art therapy in a case of sporadic Creutzfeldt-Jakob disease. Visual art therapy was compared longitudinally with clinical and neuroimaging data over five-month period in an autopsy-confirmed case of sporadic Creutzfeldt-Jakob disease of MM2-cortical subtype. Art therapy sessions and content were useful in ascertaining neuropsychiatric symptoms during the course of her illness. Art therapy offered a unique emotional and cognitive outlet as illness progressed. Patients and families affected by sporadic Creutzfeldt-Jakob disease may benefit from art therapy despite the rapidly progressive nature of the illness. Art therapy can also be useful for assessment of patients with sporadic Creutzfeldt-Jakob disease by healthcare professionals.

  1. Three cases of posterior reversible encephalopathy syndrome with chronic kidney disease triggered by infection.

    Science.gov (United States)

    Nasu, Kahori; Fujisawa, Madoka; Kato, Hideki; Nangaku, Masaomi

    2017-04-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiological condition with diverse neurological manifestations. Many clinical factors are known causes of PRES, but only a few cases of PRES have been reported in patients with chronic kidney disease (CKD) and infectious disease. We describe three cases of PRES in patients with CKD triggered by various infectious diseases. Characteristic hyperintense signals on magnetic resonance imaging (MRI) indicating reversible vasogenic brain oedema in various parts of the brain were observed. To explain the pathophysiology of PRES, the hypertension/hyperperfusion and hypoperfusion/vasoconstriction theories have been proposed. Patients with CKD have many complications including uraemia, hypertension, and immunosuppression. Therefore, physicians should recognize that patients with CKD are at high risk of PRES triggered by infectious diseases and promptly diagnose PRES because immediate treatment of the triggers often leads to complete resolution. © 2017 Asian Pacific Society of Nephrology.

  2. A Case of Neuro-Behcet’s Disease Presenting with Central Neurogenic Hyperventilation

    Science.gov (United States)

    Alkhachroum, Ayham M.; Saeed, Saba; Kaur, Jaspreet; Shams, Tanzila; De Georgia, Michael A.

    2016-01-01

    Patient: Female, 46 Final Diagnosis: Central hyperventilation Symptoms: Hyperventilation Medication: — Clinical Procedure: None Specialty: Neurology Objective: Unusual clinical course Background: Behcet’s disease is a chronic inflammatory disorder usually characterized by the triad of oral ulcers, genital ulcers, and uveitis. Central to the pathogenesis of Behcet’s disease is an autoimmune vasculitis. Neurological involvement, so called “Neuro-Behcet’s disease”, occurs in 10–20% of patients, usually from a meningoencephalitis or venous thrombosis. Case Report: We report the case of a 46-year-old patient with Neuro-Behcet’s disease who presented with central neurogenic hyperventilation as a result of brainstem involvement from venulitis. Conclusions: To the best of our knowledge, central neurogenic hyperventilation has not previously been described in a patient with Neuro-Behcet’s disease. PMID:26965646

  3. Case report: late perianal mucinous adenocarcinoma after Crohn's disease proctectomy: an oncological rarity

    Directory of Open Access Journals (Sweden)

    Gladisch Rainer

    2005-06-01

    Full Text Available Abstract Background As in ulcerative colitis, there is an increased incidence of colorectal carcinoma in Crohn's disease. While carcinoma formation originating from ano-rectal fistulas is generally considered as a rare event there are different publications reporting on mucinous adenocarcinoma formation in association with a neovagina and rectovaginal fistulas. To the best of our knowledge this is the first description of a perianal mucinous adenocarcinoma arising in a patient after Crohn's disease proctocolectomy. Case presentation We report the case of a 50-year old female with a mucinous adenocarcinoma forming in the perineum eleven years after proctocolectomy for Crohn's disease. The patient was readmitted with perineal pain, leucocytosis and a perineal mass highly suspicious of abscess formation in the MRI-Scan. Histological examination revealed a mucinous adenocarcinoma. Exenteration including vagina, uterus and ovaries together with the coccygeal-bone was performed. Conclusion Mucinous adenocarcinoma formation is a rare complication of Crohn's disease and so far unreported after proctocolectomy.

  4. A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.

    Science.gov (United States)

    Hikita, Norikatsu; Hattori, Hideji; Kato, Mitsuhiro; Sakuma, Satoru; Morotomi, Yoshiki; Ishida, Hiroshi; Seto, Toshiyuki; Tanaka, Katsuji; Shimono, Taro; Shintaku, Haruo; Tokuhara, Daisuke

    2014-02-01

    Gene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS). The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes. Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene. The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease. Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  5. Case Reports of Cat Scratch Disease with Typical and Atypical Clinical Manifestations: A Literature Review

    Directory of Open Access Journals (Sweden)

    Gulshan Umbreen

    2017-04-01

    Full Text Available Cat scratch disease (CSD is the most well-known zoonotic disease spread by domestic animals like cats. Cats are the source of Bartonella henselae. Most patients more than ninety percent 3-12 days after a scratch from a cat, undoubtedly a little cat with insects present with one or more erythematous injuries at the site of inoculation, the sore is typically a crusted papule or, once in a while, a pustule. More than half of cases in one study show that the systemic indications went with the lymphadenopathy. These may incorporate fever, discomfort, migraine and anorexia and frequently happen in immunocompromised patients. Atypically clinical manifestations happen are altered mental status, perplexity, prolonged fever, respiratory protestations (atypical pneumonitis, Joint pain, synovitis, Back agony is uncommon. The hypothesis of the study to find out that cat scratch disease cause typical and atypical clinical manifestation. Study was conducted July 2015 to September 2015. The methodology sections of a review article are listed all of the databases and citation indexes that were searched such as Web of Science and PubMed and any individual journals that were searched. Various case reports were mentioned in the study. Case reports of cat scratch diseases with typical and atypical clinical manifestation included in the study. The objective of review of these reporting cases is to make physicians aware about cat scratch diseases and also need to create awareness about cat scratch disease in pet owner. Although it is self-limiting needs to report to health authorities. There are few cases reported in which mostly cases reported in twain, japan, Brazil, Texas, United States, Dhaka, Spain with typical and atypical clinical manifestation

  6. Case of Familial Moyamoya Disease Presenting 10 Years After Initial Negative Magnetic Resonance Screening in Childhood.

    Science.gov (United States)

    Aoyama, Jiro; Nariai, Tadashi; Mukawa, Maki; Inaji, Motoki; Tanaka, Yoji; Maehara, Taketoshi

    2017-09-01

    Both genetic and environmental factors are considered to contribute to the onset of moyamoya disease, but the exact mechanism has not yet been clarified. Furthermore, the typical time course of progression to vessel occlusion has not been established, even in the genetically high-risk population. We present the case of a 21-year-old female with familial history of moyamoya disease. She underwent screening for moyamoya disease 10 years prior, but no abnormalities in magnetic resonance imaging or magnetic resonance angiography were found. She presented to our hospital for transient numbness of the left upper and lower extremities and dysarthria at the age of 21. She was diagnosed with moyamoya disease and underwent bilateral encephaloduroarteriosynangiosis. Gene analysis on the point mutation of RNF213, p.R4810K, was conducted for this patient, her younger sister with moyamoya disease, and their nonsymptomatic parents. A rare variant (p.R4810K) was positive in these sisters and their mother. We show a case of familial moyamoya disease diagnosed 10 years after the magnetic resonance imaging screening in childhood. We must carefully consider when, how, and for whom screening for moyamoya disease should be performed, taking into account familial history of the disease. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Leptospira Exposure and Patients with Liver Diseases: A Case-Control Seroprevalence Study

    Science.gov (United States)

    Alvarado-Esquivel, Cosme; Sánchez-Anguiano, Luis Francisco; Hernández-Tinoco, Jesús; Ramos-Nevárez, Agar; Margarita Cerrillo-Soto, Sandra; Alberto Guido-Arreola, Carlos

    2016-01-01

    The seroepidemiology of Leptospira infection in patients suffering from liver disease has been poorly studied. Information about risk factors associated with infection in liver disease patients may help in the optimal planning of preventive measures. We sought to determine the association of Leptospira IgG seroprevalence and patients with liver diseases, and to determine the characteristics of the patients with Leptospira exposure. We performed a case-control study of 75 patients suffering from liver diseases and 150 age- and gender-matched control subjects. Diagnoses of liver disease included liver cirrhosis, steatosis, chronic hepatitis, acute hepatitis, and amoebic liver abscess. Sera of participants were analyzed for the presence of anti- Leptospira IgG antibodies using a commercially available enzyme immunoassay. Anti-Leptospira IgG antibodies were found in 17 (22.7%) of 75 patients and in 15 (10.0%) of 150 control subjects (OR = 2.32; 95% CI: 1.09-4.94; P=0.03). This is the first age- and gender-matched case control study about Leptospira seroprevalence in patients with liver diseases. Results indicate that Leptospira infection is associated with chronic and acute liver diseases. Results warrants for additional studies on the role of Leptospira exposure in chronic liver disease. PMID:27493589

  8. Severe osteomalacia due to undiagnosed coeliac disease: three case reports of Tunisian women.

    Science.gov (United States)

    Landolsi, Hanène; Bouajina, Elyès; Mankaï, Amani; Zeglaoui, Hela; Skandrani, Karim; Ghedira, Ibtissem

    2006-01-01

    We describe three cases of osteomalacia presenting in Tunisian women, all of whom had previously-undiagnosed coeliac disease (CD). Direct enquiry revealed an important weight loss and a history of diarrhoea in two patients, and a 15-year history of anaemia in one patient. Laboratory tests showed severe anaemia in the three cases. Reduced calcium was found in two cases, and corrected calcium was found in one case. Radiological examination showed fissure in two cases. The diagnosis of osteomalacia was made by clinical, biochemical and radiological features. Antigliadin, antireticulin, antiendomysial and anti-tissue transglutaminase antibodies were all positive in the three cases, and a small-bowel biopsy confirmed the diagnosis of CD. Treatment with gluten-free diet (GFD), supplemental calcium and vitamin D was initiated for the three patients, but only one patient complies strictly with the GFD; she showed a marked resolution of her symptoms.

  9. HYPNOSIS IN THE TREATMENT OF MORGELLONS DISEASE: A Case Study1

    OpenAIRE

    Gartner, Ashley M.; Dolan, Sara L.; Stanford, Matthew S.; Elkins, Gary R.

    2011-01-01

    Morgellons Disease is a condition involving painful skin lesions, fibrous growths protruding from the skin, and subcutaneous stinging and burning sensations, along with symptoms of anxiety, depression, fatigue, and memory and attention deficits. The etiological and physiological bases of these symptoms are unclear, making the diagnosis controversial and challenging to treat. There are currently no established treatments for Morgellons Disease. The following case example depicts treatment of a...

  10. A Case of Advanced Unicentric Retroperitoneal Castleman's Disease, Associated With Psoriasis

    Directory of Open Access Journals (Sweden)

    Mohammad Ali Mohagheghi

    2017-05-01

    Full Text Available We present here a 32-year-old male with advanced lately diagnosed, right sided retroperitoneal mass, which had been already treated due to progressive muco-cutaneous lesions clinically consistent with psoriasis, during recent four years. The advanced retroperitoneal mass resected surgically and reported as hyaline-vascular castleman disease with a dense focus of coarse calcification, on histopathology. Association of psoriasis and castlman disease is discussed in this case report. 

  11. A case of recurrent complex regional pain syndrome accompanying Raynaud's disease: a prospective coincidence?

    Science.gov (United States)

    Kesikburun, Serdar; Günendi, Zafer; Aydemir, Koray; Özgül, Ahmet; Tan, Arif Kenan

    2013-01-01

    Complex regional pain syndrome (CPRS) and Raynaud's disease are disorders characterized by vasomotor disturbances associating with abnormal autonomic nervous system. We present a case of CRPS involving a history of recurrence and no initiating event. Raynaud's disease accompanying CRPS was diagnosed clinically in the patient. We propose that a sympathetic dysfunction underlies the pathophysiologies of both disorders and may be responsible for the coexistence of these two distinct entities. Recurrence and unknown etiology of CRPS might account for temporary alterations in sympathetic function.

  12. Temporomandibular joint synovitis in patients with Crohn's disease : a case report

    OpenAIRE

    金澤, 香; 柴田, 考典; 櫻井, 博理; 吉澤, 信夫; カナザワ, カオル; シバタ, タカノリ; サクライ, ヒロマサ; ヨシザワ, ノブオ; Kaoru, KANAZAWA; Takanori, SHIBATA; Hiromasa, SAKURAI; Nobuo,YOSHIZAWA

    2004-01-01

    We report a case of bilateral temporomandibular joint (TMJ) synovitis in a patient with Crohn's disease. The patient was an eighteen year old male, who had been diagnosed with Crohn's disease in February 1992 at Yamagata University Medical Hospital. The patient complained of jaw opening pain of the bilateral TMJ, and was referred to the Department of Oral and Maxillofacial Surgery of the Hospital. The magnetic resonance images demonstrated severe joint effusion in the upper and lower compartm...

  13. [reproductive Variables And Risk Of Benign Breast Diseases. A Case-control Study].

    OpenAIRE

    Hardy, E E; Pinotti, J A; Osis, M J; Faúndes, A

    2015-01-01

    The purpose of the study was the identification of risk factors for benign breast diseases (BBD); 257 women with BBD diagnosed through pathological anatomy or cytology and a matched control for each were studied. Subjects were selected at The State University of Campinas Hospital and at a private clinic. To enter the study cases had to have a first diagnosis of BBD between October 1979 and August 1984. The following BBD were considered: dysplasia, fibroadenoma, cystic disease, papilloma and d...

  14. Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report

    OpenAIRE

    Ludwig Michael; Pavicevic Snezana; Samardzic Mira; Bogdanovic Radovan

    2011-01-01

    Abstract Introduction Dent's disease is an X-linked recessive proximal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. To the best of our knowledge, this is only the third report on the use of growth hormone therapy in a child with poor growth associated with Dent's disease. Case presentation We report on a 7-year-old Montenegrin boy with proteinuria, hypercalciuria, nephrocalcinosis, rickets and s...

  15. Pancreatic Agenesis with Congenital Diaphragmatic Hernia and Congenital Heart Disease: A Case Report

    OpenAIRE

    Nakao, Atsushi; Takeda, Tomohiro; Hisaeda, Yoshiya; Hirota, Atsushi; Amagata, Syusuke; Sakurai, Yuko; Kawakami, Tadashi

    2013-01-01

    Pancreatic agenesis is a rare disease that causes neonatal diabetes mellitus and exocrine pancreatic insufficiency. We report the case of a very low birth weight infant with congenital diaphragmatic hernia, and congenital heart disease (ventricular septal defect and patent ductus arteriosus). Failure to gain weight, despite well-managed respiratory and heart failure, was improved by infusion of subcutaneous insulin, administration of pancreatic enzyme, and nutrition of medium-chain-triglyceri...

  16. Pulmonary talc granulomatosis mimicking malignant disease 30 years after last exposure: a case report

    Directory of Open Access Journals (Sweden)

    Krimsky William S

    2008-07-01

    Full Text Available Abstract Introduction Pulmonary talc granulomatosis is a rare disorder characterized by the development of foreign body granuloma secondary to talc exposure. Previous case reports have documented the illness in current intravenous drug users who inject medications intended for oral use. We present a rare case of the disease in a patient with a distant history of heroin abuse who presented initially with history and imaging findings highly suggestive of malignancy. Case presentation A 53-year-old man reported a 4-month history of increasing dyspnea and weight loss. He had a long history of smoking and admission chest X-ray revealed a density in the right hemithorax. Computed tomography confirmed a probable mass with further speculated opacities in both lung fields suspicious for malignant spread. Biopsies obtained using endobronchial ultrasound-guided aspiration returned negative for malignancy and showed bronchial epithelial cells with foreign body giant cell reaction and polarizable birefringent talc crystals. Conclusion This case demonstrates a rare presentation of talc granulomatosis three decades after the last likely exposure. The history and imaging findings in a chronic smoker were initially strongly suggestive of malignant disease, and we recommend that talc-induced lung disease is considered in any patient with multiple scattered pulmonary lesions and a history of intravenous drug use. Confirmation of the disease by biopsy is essential, but unfortunately there are few successful proven management options for patients with worsening disease.

  17. Eosinophilic Gastrointestinal Disorder in Coeliac Disease: A Case Report and Review

    Directory of Open Access Journals (Sweden)

    Dennis N. F. Lim

    2012-01-01

    Full Text Available Eosinophilic gastrointestinal disorder is a rare disorder characterised by eosinophilic infiltration of the gastrointestinal tract. There are various gastrointestinal manifestations with eosinophilic ascites being the most unusual and rare presentation. Diagnosis requires high index of suspicion and exclusion of various disorders associated with peripheral eosinophilia. There are no previous case reports to suggest an association between eosinophilic gastrointestinal disorder and coeliac disease in adults. We report a case of eosinophilic ascites and gastroenteritis in a 30-year-old woman with a known history of coeliac disease who responded dramatically to a course of steroids.

  18. Pancreatic agenesis with congenital diaphragmatic hernia and congenital heart disease: a case report.

    Science.gov (United States)

    Nakao, Atsushi; Takeda, Tomohiro; Hisaeda, Yoshiya; Hirota, Atsushi; Amagata, Syusuke; Sakurai, Yuko; Kawakami, Tadashi

    2013-10-01

    Pancreatic agenesis is a rare disease that causes neonatal diabetes mellitus and exocrine pancreatic insufficiency. We report the case of a very low birth weight infant with congenital diaphragmatic hernia, and congenital heart disease (ventricular septal defect and patent ductus arteriosus). Failure to gain weight, despite well-managed respiratory and heart failure, was improved by infusion of subcutaneous insulin, administration of pancreatic enzyme, and nutrition of medium-chain-triglyceride -enriched formula. This is the first case of pancreatic agenesis with both malformations where the patient is discharged from the hospital. Early diagnosis and adequate treatments to compensate pancreatic function may prevent mortality and improve growth.

  19. Pancreatic Agenesis with Congenital Diaphragmatic Hernia and Congenital Heart Disease: A Case Report

    Directory of Open Access Journals (Sweden)

    Atsushi Nakao

    2013-10-01

    Full Text Available Pancreatic agenesis is a rare disease that causes neonatal diabetes mellitus and exocrine pancreatic insufficiency. We report the case of a very low birth weight infant with congenital diaphragmatic hernia, and congenital heart disease (ventricular septal defect and patent ductus arteriosus. Failure to gain weight, despite well-managed respiratory and heart failure, was improved by infusion of subcutaneous insulin, administration of pancreatic enzyme, and nutrition of medium-chain-triglyceride -enriched formula. This is the first case of pancreatic agenesis with both malformations where the patient is discharged from the hospital. Early diagnosis and adequate treatments to compensate pancreatic function may prevent mortality and improve growth.

  20. Dental Erosion in a Partially Edentulous Patient with Gastroesophageal Reflux Disease: A Case Report

    Science.gov (United States)

    PICOS, ALINA MONICA; PICOS, ANDREI; NICOARA, PETRA; CRAITOIU, MONICA M.

    2014-01-01

    Diseases such as gastroesophageal reflux disease (GERD), bulimia, anorexia, and extrinsic alimentary factors may cause dental erosion (DE). The minimally invasive therapeutic attitude preserves the remaining healthy tooth structure. In the earlier stages, the direct restoration of dental lesions is possible, using composite materials. In advanced stages of DE, prosthetic treatments are recommended for stable esthetic and functional results. We present a case of DE in a partially edentulous patient who benefited from a complex therapy. The prosthetic project of the case involves ceramic veneers associated with dental and implant supported fixed prosthesis for the restoration of esthetics, mastication, phonetics and their maintenance. PMID:26528037

  1. Dental Erosion in a Partially Edentulous Patient with Gastroesophageal Reflux Disease: A Case Report.

    Science.gov (United States)

    Picos, Alina Monica; Picos, Andrei; Nicoara, Petra; Craitoiu, Monica M

    2014-01-01

    Diseases such as gastroesophageal reflux disease (GERD), bulimia, anorexia, and extrinsic alimentary factors may cause dental erosion (DE). The minimally invasive therapeutic attitude preserves the remaining healthy tooth structure. In the earlier stages, the direct restoration of dental lesions is possible, using composite materials. In advanced stages of DE, prosthetic treatments are recommended for stable esthetic and functional results. We present a case of DE in a partially edentulous patient who benefited from a complex therapy. The prosthetic project of the case involves ceramic veneers associated with dental and implant supported fixed prosthesis for the restoration of esthetics, mastication, phonetics and their maintenance.

  2. Use of sugammadex in Strumpell-Lorrain disease: a report of two cases.

    Science.gov (United States)

    Franco-Hernández, José Antonio; Muñoz Rodríguez, Luis; Ortiz de Landázuri, Pilar Jubera; García Hernández, Alejandra

    2013-01-01

    Strumpell-Lorrain disease--or familial spastic paraplegia (FSP)--is a rare hereditary neurological disorder, mainly characterized by variable degrees of stiffness and weakening of the muscles, with cognitive impairment, deafness, and ataxia in the more severe cases. We describe two female siblings with FSP programmed for cholecystectomy and subtotal colectomy, respectively, and also how we dealt with the anesthetic management in both cases and review the literature on this disease in relation to anesthesia. Copyright © 2013 Sociedade Brasileira de Anestesiologia. Published by Elsevier Editora Ltda. All rights reserved.

  3. Living Donor Liver Transplantation for Caroli's Disease: A Report of Two Cases.

    Science.gov (United States)

    Steinbrück, Klaus; Enne, Marcelo; Fernandes, Reinaldo; Martinho, Jose M; Pacheco-Moreira, Lúcio F

    2011-01-01

    Caroli's disease (CD) is a rare autosomal recessive disorder characterized by intrahepatic cystic dilatation of the bile ducts. Patients with bilobar or progressive disease may require orthotopic liver transplantation (OLT). In the MELD era, living donor liver transplantation (LDLT) raised as the ultimate treatment option for these patients, once their MELD score is usually low. Herein, we describe 2 cases of patients (a 2-year-old girl and a 19-year-old teenager) that successfully underwent LDLT as a treatment for diffuse CD. The good postoperative courses of the two cases indicate that LDLT is a feasible option in the treatment of this disorder, even in complicated or early age patients.

  4. [Sarcoidosis after adalimumab treatment in inflammatory rheumatic diseases: a report of two cases and literature review].

    Science.gov (United States)

    Scailteux, Lucie-Marie; Guedes, Claudie; Polard, Elisabeth; Perdriger, Aleth

    2015-01-01

    TNF α antagonists (anti-TNF α) are widely used in inflammatory rheumatic diseases: rheumatoid arthritis (RA) and spondylarthropathy (SpA). The efficacy of the anti-TNF α monoclonal antibodies was also observed in unresponsive sarcoidosis to conventional therapy. In contrast, sarcoidosis in patients with inflammatory rheumatic disease treated with anti-TNF α keep on growing, with a suspected role of anti-TNF α in this pathological process. We presented here two cases of sarcoidosis developing while the patient was on adalimumab (ADA) therapy for inflammatory rheumatic disease. In one case, the reintroduction of ADA led to increase in symptomatology. We also analyzed the 16 other cases of sarcoidosis developing under ADA treatment published in literature, mostly in RA patients. These cases show a possible paradoxical effect of ADA in sarcoidosis development in patients treated with anti-TNFα monoclonal antibodies. The iatrogenic mechanism remains unclear. These cases underline the importance of a drug-induced etiology survey facing any symptomatology suggesting the development of sarcoidosis in patients treated with anti-TNF α for an inflammatory rheumatic disease. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  5. Association between bullous pemphigoid and neurologic diseases: a case-control study.

    Science.gov (United States)

    Casas-de-la-Asunción, E; Ruano-Ruiz, J; Rodríguez-Martín, A M; Vélez García-Nieto, A; Moreno-Giménez, J C

    2014-11-01

    In the past 10 years, bullous pemphigoid has been associated with other comorbidities and neurologic and psychiatric conditions in particular. Case series, small case-control studies, and large population-based studies in different Asian populations, mainland Europe, and the United Kingdom have confirmed this association. However, no data are available for the Spanish population. This was an observational, retrospective, case-control study with 1:2 matching. Fifty-four patients with bullous pemphigoid were selected. We compared the percentage of patients in each group with concurrent neurologic conditions, ischemic heart disease, diabetes, chronic obstructive pulmonary disease, and solid tumors using univariate logistic regression. An association model was constructed with conditional multiple logistic regression. The case group had a significantly higher percentage of patients with cerebrovascular accident and/or transient ischemic attack (odds ratio [OR], 3.06; 95% CI, 1.19-7.87], dementia (OR, 5.52; 95% CI, 2.19-13.93), and Parkinson disease (OR, 5; 95% CI, 1.57-15.94). A significantly higher percentage of cases had neurologic conditions (OR, 6.34; 95% CI, 2.89-13.91). Dementia and Parkinson disease were independently associated with bullous pemphigoid in the multivariate analysis. Patients with bullous pemphigoid have a higher frequency of neurologic conditions. Copyright © 2013 Elsevier España, S.L.U. and AEDV. All rights reserved.

  6. Progressive Supranuclear Palsy Syndrome and Semantic Dementia in Neuropathologically Proven Lewy Body Disease: A Report of Two Cases.

    Science.gov (United States)

    Lagarde, Julien; Hamelin, Lorraine; Hahn, Valé; Habert, Marie-Odile; Seilhean, Danielle; Duyckaerts, Charles; Sarazin, Marie

    2015-01-01

    The impact of neuropathological lesions on the clinical symptoms and progression of Lewy body disease (LBD) remains unclear. To address this issue, we describe two illustrative cases of autopsy-proven LBD that presented atypical phenotypes of progressive supranuclear palsy syndrome and semantic dementia. Postmortem examination revealed diffuse LBD with massive brainstem involvement in case 1, whereas Lewy bodies predominated in the amygdala and neocortex in case 2. Alzheimer's disease pathology was present in both cases, and TDP-43 inclusions were noted in case 2. These cases illustrate two contrasted clinical presentations and highlight the heterogeneity within the underlying proteinopathies of neurodegenerative diseases.

  7. A case of atypical Kawasaki disease with giant coronary artery aneurysm containing thrombus

    OpenAIRE

    Micallef Eynaud, Stephen; Attard Montalto, Simon; Grech, Victor E.

    2016-01-01

    Introduction Kawasaki disease (KD) is an acute febrile, systemic vasculitic syndrome of unknown etiology, occurring primarily in children younger than 5 years of age. Administration of IVIG within the first 10 days after onset of fever in combination with high dose aspirin reduces the risk of coronary artery damage in KD. Though rare, giant aneurysms of the coronary arteries may develop in untreated cases and prove extremely challenging to manage. Case Presentation A 9-month-old Caucasian boy...

  8. Best practices in care management for Asian American elders: the case of Alzheimer's disease.

    Science.gov (United States)

    Arnsberger, Pamela

    2005-01-01

    This article addresses practice concerns and special issues for professionals doing case management for older Asian Americans using Alzheimer's disease as the case example. Highlighted are cross-cultural issues in assessment for depression in this population, as well as caregiving and community service utilization issues. The research is based on the author's own work and the literature, as well as results from a population-based study of caregivers of the elderly in California.

  9. A Rare Congenital Heart Disease in an Elderly Long-Distance Runner: A Case Report

    OpenAIRE

    Bhamidipati, K. R.; Shah, N. C.; Connaughton, M. C.

    2012-01-01

    Introduction. Cor triatriatum is a rare congenital heart disease found incidentally in children. Although cor triatriatum can be an incidental finding in asymptomatic adults; it is extremely rare to find elderly patients without symptoms and is unique in a long distance runner. Case Presentation. We present the case of an 83-year-old long-distance runner with cor triatriatum sinistrum and atrial fibrillation who continues to be asymptomatic and has continued to run long distances, retaini...

  10. A Rare Case Report of Simultaneous Medullary Thyroid Cancer and Castleman's Disease

    OpenAIRE

    A.R. Rastgoo Haghi; M.A. Fereiduni; A. Dehghan; M. Shayani Nasab; M. Shams

    2012-01-01

    Introduction: Medullary thyroid cancer (MTC) is a neuroendocrine tumor which originates from the parafollicular cells. The prognosis of MTC is poor and thyroidectomy can be effective. Castleman's disease or angiofollicular lymph node hyperplasia is an uncommon benign lymphoproliferative disorder. The most common form is hyaline vascular type which is usually asymptomatic and surgical resection often cures it.Case Report: The case was a 38-year-old male with a thyroid mass resected by surgery....

  11. Idiopathic pediatric chronic kidney disease: can genomic technology crack the case?

    OpenAIRE

    Pollak, Martin R.

    2015-01-01

    In children, chronic kidney disease (CKD) that results from structural abnormalities and glomerular injury is readily diagnosed; however, most cases of pediatric CKD are of unknown etiology. In this issue of the JCI, Verbitsky and colleagues used chromosomal microarrays to evaluate genomic variation in children with CKD. Compared with control individuals, a substantial proportion of children with idiopathic CKD had clearly identifiable genomic imbalances. Moreover, in some cases, detailed ana...

  12. Adventitial cystic disease of the common femoral artery: a case report and literature review.

    Science.gov (United States)

    Kim, Sung Hwan; Lee, Chung Eun; Park, Hyun Oh; Kim, Jong Woo; Choi, Jun Young; Lee, Jeong Hee

    2013-04-01

    Arterial adventitial cystic disease is an uncommon type of non-atherosclerotic peripheral vessel disease. Most cases of arterial adventitial cystic disease occur in the popliteal arteries; however, fewer cases have been reported in the femoral arteries. A 59-year-old male patient visited the hospital with a complaint of a swelling on the lower extremity that had begun two months earlier. Suspecting deep vein thrombosis based on a physical examination and ultrasonography from another hospital, tests were performed. Magnetic resonance imaging (MRI) was performed for exact diagnosis because venous adventitial cystic disease was suspected by computed tomography venography. The MRI indicated venous adventitial cystic disease as well. Thus, a cystic mass excision was performed. In the end, a cystic mass compressing the common femoral vein that originated from the common femoral artery was diagnosed based on the macroscopic findings. This case is reported because blood circulation in the vein was impeded due to arterial adventitial cystic disease, and the symptoms improved after the cystic mass excision and polytetrafluoroethylene roofing angioplasty.

  13. Chronic Lyme borreliosis associated with minimal change glomerular disease: a case report.

    Science.gov (United States)

    Florens, N; Lemoine, S; Guebre-Egziabher, F; Valour, F; Kanitakis, J; Rabeyrin, M; Juillard, L

    2017-02-06

    There are only few cases of renal pathology induced by Lyme borreliosis in the literature, as this damage is rare and uncommon in humans. This patient is the first case of minimal change glomerular disease associated with chronic Lyme borreliosis. A 65-year-old Caucasian woman was admitted for an acute edematous syndrome related to a nephrotic syndrome. Clinical examination revealed violaceous skin lesions of the right calf and the gluteal region that occurred 2 years ago. Serological tests were positive for Lyme borreliosis and skin biopsy revealed lesions of chronic atrophic acrodermatitis. Renal biopsy showed minimal change glomerular disease. The skin lesions and the nephrotic syndrome resolved with a sequential treatment with first ceftriaxone and then corticosteroids. We report here the first case of minimal change disease associated with Lyme borreliosis. The pathogenesis of minimal change disease in the setting of Lyme disease is discussed but the association of Lyme and minimal change disease may imply a synergistic effect of phenotypic and bacterial factors. Regression of proteinuria after a sequential treatment with ceftriaxone and corticosteroids seems to strengthen this conceivable association.

  14. Crohn’s disease and Trabecular Metal implants: a report of two cases and literature review

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    C. Peron

    2015-10-01

    Full Text Available Aim The aim of the present study was to report two cases with Crohn’s disease in whom dental implants successfully osseointegrated and remained functionally stable up to 13 and 12 months of follow-up, respectively. Cases presentation In cases 1 (age 35 years and 2 (age 36 years, tooth 24 and 14, respectively, were atraumatically extracted and a particulated bone grafting material (buccal and palatal aspect of the defect and a Trabecular Metal implant (11.5 mm length, 4.7 mm diameter were inserted in each extraction socket. After implant placement and abutment connection with the final torque (25 Ncm, the provisional restoration was adapted in the oral cavity creating the emergence profile. The provisional crown was screw-retained and had slight occlusal contacts in the centric occlusion (intercuspation position. A periapical radiograph was taken as a control radiograph at the baseline. Postoperatively, antibiotics were prescribed as well as analgesics and an oral rinse was recommended. In both cases, the provisional restoration was removed after 2 weeks and replaced with a full ceramic restoration. Case-1 and case-2 were followed up after 13 months and 12 months respectively. In both cases postoperative healing was uneventful and radiographs taken at follow-up showed no evidence of crestal bone loss. Implants in both cases demonstrated an excellent clinical condition at follow-up. Conclusion Trabecular Metal implants can osseointegrate and remain functionally stable in patients with Crohn’s disease.

  15. [Molecular analysis of Malassezia species isolated from three cases of Akatsuki disease (pomade crust)].

    Science.gov (United States)

    Tajima, Mami; Amaya, Misato; Sugita, Takashi; Nishikawa, Akemi; Tsuboi, Ryoji

    2005-01-01

    Malassezia spp. which normally colonize on the skin surface, are known as being either the cause or an exacerbating factor in a variety of skin conditions, including pityriasis versicolor, folliculitis, seborrheic dermatitis and atopic dermatitis. We report here three cases of Akatsuki disease (pomade crust). Scales and crusts were collected from the lesional skin and analyzed using a PCR-based non-culture method. Malassezia microflora in Akatsuki disease was compared to that of healthy subjects and atopic dermatitis patients. Samples were collected from upper and lower eyelids (Case 1), an operation scar (Case 2) and parietal scalp (Case 3). DNA was extracted from the scales and nested PCR was performed using specific primers for each species. Our analysis detected only M. obtusa and M. slooffiae in Cases 1 and 3 and only M. slooffiae in Case 2. Our previous data indicated that while M. globosa, M. restricta and M. sympodialis were common in healthy subjects, the two aforementioned species were rare, suggesting that the presence of M. obtusa and M. slooffiae in the subjects in the present study is correlated to the pathogenesis of Akatsuki disease.

  16. Intrathecal antibody production in two cases of yellow fever vaccine associated neurotropic disease in Argentina.

    Science.gov (United States)

    Pires-Marczeski, Fanny Clara; Martinez, Valeria Paula; Nemirovsky, Corina; Padula, Paula Julieta

    2011-12-01

    During the period 2007-2008 several epizootics of Yellow fever with dead of monkeys occurred in southeastern Brasil, Paraguay, and northeastern Argentina. In 2008 after a Yellow fever outbreak an exhaustive prevention campaign took place in Argentina using 17D live attenuated Yellow fever vaccine. This vaccine is considered one of the safest live virus vaccines, although serious adverse reactions may occur after vaccination, and vaccine-associated neurotropic disease are reported rarely. The aim of this study was to confirm two serious adverse events associated to Yellow fever vaccine in Argentina, and to describe the analysis performed to assess the origin of specific IgM against Yellow fever virus (YFV) in cerebrospinal fluid (CSF). Both cases coincided with the Yellow fever vaccine-associated neurotropic disease case definition, being clinical diagnosis longitudinal myelitis (case 1) and meningoencephalitis (case 2). Specific YFV antibodies were detected in CSF and serum samples in both cases by IgM antibody-capture ELISA. No other cause of neurological disease was identified. In order to obtain a conclusive diagnosis of central nervous system (CNS) infection the IgM antibody index (AI(IgM) ) was calculated. High AI(IgM) values were found in both cases indicating intrathecal production of antibodies and, therefore, CNS post-vaccinal YFV infection could be definitively associated to YFV vaccination. Copyright © 2011 Wiley Periodicals, Inc.

  17. Altered mental status, an unusual manifestation of early disseminated Lyme disease: A case report

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    Chabria Shiven B

    2007-08-01

    Full Text Available Abstract Early disseminated Lyme disease can have a myriad of central nervous system manifestations. These run the gamut from meningitis to radiculopathy and cranial neuropathy. Here we present a case that manifested with only acute mental status change in the setting of central nervous system involvement with Lyme disease. A paucity of other central nervous system manifestations is rare, especially with positive serum and cerebrospinal fluid markers. This article underscores the importance of a high index of clinical suspicion in detection of Lyme disease related manifestations in endemic areas.

  18. Small Bowel Adenocarcinoma Complicating Coeliac Disease: A Report of Three Cases and the Literature Review

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    Hafida Benhammane

    2012-01-01

    Full Text Available Coeliac disease is associated with an increased risk of malignancy, not only of intestinal lymphoma but also of small intestinal adenocarcinoma which is 82 times more common in patients with celiac disease than in the normal population. We report three additional cases of a small bowel adenocarcinoma in the setting of coeliac disease in order to underline the epidemiological features, clinicopathological findings, and therapeutic approaches of this entity based on a review of the literature. The three patients underwent a surgical treatment followed by adjuvant chemotherapy based on capecitabine/oxaliplatin regimen, and they have well recovered.

  19. A clinical case of adult onset Niemann–Pick disease type C

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    E. V. Saifullina

    2016-01-01

    Full Text Available The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC, a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease. There is information about developed pathogenic miglustat substrate reduction therapy for NPC. The authors describe their clinical case of adult-onset NPC in a 32-year-old female patient. The clinical syndrome and the results of laboratory and instrumental studies that could establish an accurate diagnosis and determine indications for pathogenetic therapy are given in detail.

  20. USE OF INFLIXIMAB IN THE CASE OF INFLAMMATORY BOWEL DISEASE IN CHILDREN

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    N.E. Shchigoleva

    2010-01-01

    Full Text Available The Article is focused on the pressing issue, i.e. the therapy of inflammatory bowel diseases. It reviews in detail the aspects of using monoclonal antibodies to the tumor necrosis factor in the case of Crohn’s disease and unspecific ulcerative colitis. The article describes the results of the authors’ observations and provides data obtained by foreign researchers.Key words: ulcerative colitis, Crohn’s disease, treatment, Infliximab, antibodies to the tumor necrosis factor, children. (Pediatric Pharmacology. – 2010; 7(1:55-61

  1. Subglotic Stenosis as manifestation in Wegener’s Disease. A case report

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    Sofía VALLE-OLSEN

    2017-03-01

    Full Text Available Introduction and objective: Subglottic stenosis in Wegener’s disease (WD represents a diagnostic challenge because it’s ability to be the unique manifestation. Description: A case of subglottic GW described in a woman 14 years. Discussion: Subglottic stenosis secondary to Wegener’s disease use to be associated with ENT symptoms, so these can give us the etiological suspicion. In the absence of these, we should include it in the differential diagnosis and try a histopathologic confirmation. Conclusions: In an isolated subglottic stenosis, rule Wegener's disease performing a biopsy of nasal mucosa and two serology tests.

  2. Ethical Dilemmas in Protecting Individual Rights versus Public Protection in the Case of Infectious Diseases

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    Kai-Lit Phua

    2013-01-01

    Full Text Available Infectious diseases—including emerging and re-emerging diseases such as Ebola and tuberculosis—continue to be important causes of morbidity and mortality in the globalizing, contemporary world. This article discusses the ethical issues associated with protecting the rights of individuals versus the protection of the health of populations in the case of infectious diseases. The discussion uses the traditional medical ethics approach together with the public health approach presented by Faden and Shebaya. 3 Infectious diseases such as Ebola hemorrhagic fever, Nipah virus and HIV/AIDS (together with tuberculosis will be used to illustrate particular points in the discussion.

  3. [Legionnaires' disease complicated by rhabdomyolysis and acute renal failure: about a case].

    Science.gov (United States)

    Bac, Arnaud; Ramadan, Ahmed Sabry; Youatou, Pierre; Mols, Pierre; Cerf, Dominique; Ngatchou, William

    2016-01-01

    Legionnaires' disease is a bacterial disease of the respiratory system caused by a gram-negative germ whose clinical manifestation can be benign limiting to flu-like syndrome or can be more severe being characterized by pneumonia which may be complicated by multisystem disease that can lead to death. We report the case of a 48 year-old patient with rhabdomyolysis complicated by acute renal failure following Legionella pneumophila pneumonia. We here highlight the pathophysiological aspects and treatment of this rare complication during Legionella infection.

  4. Fibrocystic disease of vulvar ectopic breast tissue. Case report and review of the literature.

    Science.gov (United States)

    Baykal, C; Tulunay, G; Usubutun, A; Küçükali, T; Ozer, S; Demir, O F

    2004-01-01

    Mammary glands located in the vulvar region have been named as ectopic breast tissue or anogenital mammary glands by different authors. Literature on pathologies of ectopic breast tissue located in the vulvar region is rare. Most of the reports are about the malignancies arising from this ectopic tissue. We report a case of fibrocystic disease of the mammary glands in the vulva in a 25-year-old pregnant woman. Her disease was exaggerated during pregnancy. Ectopic breast tissue in the vulva is a rare entity and fibrocystic disease of this tissue has rarely been reported in the English literature. Copyright (c) 2004 S. Karger AG, Basel.

  5. Terson syndrome caused by ventricular hemorrhage associated with moyamoya disease--case report.

    Science.gov (United States)

    Arakawa, Y; Goto, Y; Ishii, A; Ueno, Y; Kikuta, K; Yoshizumi, H; Katsuta, H; Kenmochi, S; Yamagata, S

    2000-09-01

    A 24-year-old female presented with Terson syndrome secondary to bilateral ventricular hemorrhage as a complication of moyamoya disease. Ophthalmoscopy and magnetic resonance imaging clearly demonstrated vitreous hemorrhage in the left eye globe. Various visual symptoms are associated with moyamoya disease, almost all of which result from ischemic lesions in the visual cortex and optic pathways. In this case, the visual disturbance was caused by Terson syndrome secondary to ventricular hemorrhage. Close ophthalmological and radiological evaluation is mandatory even in patients with moyamoya disease and hemorrhagic manifestation located in the intracerebral, subarachnoid, or intraventricular space.

  6. Three Cases of Congenital Hepatic Fibrosis with Caroli’s Disease in Three Siblings

    Science.gov (United States)

    Kim, Myung Hwan; Ryu, Jin Sook; Yang, Suk Kyun; Lee, Sung Koo; Kim, Hae Ryun; Joung, Young Hwa; Lee, Young Sang; Min, Young

    1990-01-01

    Congenital hepatic fibrosis is a relatively rare disease of children and young adults characterized by hard hepatomegaly, portal hypertension with relative preservation of liver function and underlying architecture, and frequent renal involvement. We experienced 3 cases of congenital hepatic fibrosis with Caroli’s disease in 3 siblings, whose clinical manifestations were diverse, such as repeated cholangitis, variceal hemorrhage, or intrahepatic stones. All of them had multiple renal cysts, so we supposed that the clinical entities of these patients were in the spectrum of fibropolycystic disease of the liver and kidney. PMID:2098093

  7. [Assessment of an algorithm to identify paediatric-onset celiac disease cases through administrative healthcare databases].

    Science.gov (United States)

    Pitter, Gisella; Gnavi, Roberto; Romor, Pierantonio; Zanotti, Renzo; Simonato, Lorenzo; Canova, Cristina

    2017-01-01

    to assess the role of four administrative healthcare databases (pathology reports, copayment exemptions, hospital discharge records, gluten-free food prescriptions) for the identification of possible paediatric cases of celiac disease. population-based observational study with record linkage of administrative healthcare databases. SETTING AND PARTICIPANT S: children born alive in the Friuli Venezia Giulia Region (Northern Italy) to resident mothers in the years 1989-2012, identified using the regional Medical Birth Register. we defined possible celiac disease as having at least one of the following, from 2002 onward: 1. a pathology report of intestinal villous atrophy; 2. a copayment exemption for celiac disease; 3. a hospital discharge record with ICD-9-CM code of celiac disease; 4. a gluten-free food prescription. We evaluated the proportion of subjects identified by each archive and by combinations of archives, and examined the temporal relationship of the different sources in cases identified by more than one source. RESULT S: out of 962 possible cases of celiac disease, 660 (68.6%) had a pathology report, 714 (74.2%) a copayment exemption, 667 (69.3%) a hospital discharge record, and 636 (66.1%) a gluten-free food prescription. The four sources coexisted in 42.2% of subjects, whereas 30.2% were identified by two or three sources and 27.6% by a single source (16.9% by pathology reports, 4.2% by hospital discharge records, 3.9% by copayment exemptions, and 2.6% by gluten-free food prescriptions). Excluding pathology reports, 70.6% of cases were identified by at least two sources. A definition based on copayment exemptions and discharge records traced 80.5% of the 962 possible cases of celiac disease; whereas a definition based on copayment exemptions, discharge records, and gluten-free food prescriptions traced 83.1% of those cases. The temporal relationship of the different sources was compatible with the typical diagnostic pathway of subjects with celiac

  8. Thyrotropin-producing pituitary adenoma simultaneously existing with Graves' disease: a case report.

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    Arai, Nobuhiko; Inaba, Makoto; Ichijyo, Takamasa; Kagami, Hiroshi; Mine, Yutaka

    2017-01-06

    Thyrotropin-producing pituitary tumor is relatively rare. In particular, concurrent cases associated with Graves' disease are extremely rare and only nine cases have been reported so far. We describe a case of a thyrotropin-producing pituitary adenoma concomitant with Graves' disease, which was successfully treated. A 40-year-old Japanese woman presented with mild signs of hyperthyroidism. She had positive anti-thyroid-stimulating hormone receptor antibody, anti-thyroglobulin antibody, and anti-thyroid peroxidase antibody. Her levels of serum thyroid-stimulating hormone, which ranged from low to normal in the presence of high levels of serum free thyroid hormones, were considered to be close to a state of syndrome of inappropriate secretion of thyroid-stimulating hormone. Magnetic resonance imaging showed a macropituitary tumor. The coexistence of thyrotropin-producing pituitary adenoma and Graves' disease was suspected. Initial therapy included anti-thyroid medication, which was immediately discontinued due to worsening symptoms. Subsequently, surgical therapy for the pituitary tumor was conducted, and her levels of free thyroid hormones, including the thyroid-stimulating hormone, became normal. On postoperative examination, her anti-thyroid-stimulating hormone receptor antibody levels decreased, and the anti-thyroglobulin antibody became negative. The coexistence of thyrotropin-producing pituitary adenoma and Graves' disease is rarely reported. The diagnosis of this condition is complicated, and the appropriate treatment strategy has not been clearly established. This case suggests that physicians should consider the coexistence of thyrotropin-producing pituitary adenoma with Graves' disease in cases in which thyroid-stimulating hormone values range from low to normal in the presence of thyrotoxicosis, and the surgical treatment of thyrotropin-producing pituitary adenoma could be the first-line therapy in patients with both thyrotropin-producing pituitary adenoma

  9. Toxoplasma gondii exposure and Parkinson's disease: a case-control study.

    Science.gov (United States)

    Alvarado-Esquivel, Cosme; Méndez-Hernández, Edna Madai; Salas-Pacheco, José Manuel; Ruano-Calderón, Luis Ángel; Hernández-Tinoco, Jesús; Arias-Carrión, Oscar; Sánchez-Anguiano, Luis Francisco; Castellanos-Juárez, Francisco Xavier; Sandoval-Carrillo, Ada Agustina; Liesenfeld, Oliver; Ramos-Nevárez, Agar

    2017-02-13

    To determine the association between Toxoplasma gondii infection and Parkinson's disease and to investigate whether T. gondii seropositivity is associated with the general characteristics of patients with Parkinson's disease. Case-control study. Cases and controls were enrolled in Durango City, Mexico. 65 patients with Parkinson's disease and 195 age- and gender-matched control subjects without Parkinson's disease. Serum samples of participants were analysed for anti-T. gondii IgG and IgM antibodies by commercially available enzyme-linked immunoassays. Prevalence of T. gondii DNA was determined in seropositive subjects using PCR. The association between clinical data and infection was examined by bivariate analysis. Anti-T. gondii IgG antibodies were found in 6/65 cases (9.2%) and in 21/195 controls (10.8%) (OR 0.84; 95% CI 0.32 to 2.18; p=0.81). The frequency of high (>150 IU/mL) antibody levels was similar among cases and controls (p=0.34). None of the anti-T. gondii IgG positive cases and four of the anti-T. gondii IgG positive controls had anti-T. gondii IgM antibodies (p=0.54). The prevalence of T. gondii DNA was comparable in seropositive cases and controls (16.7% and 25%, respectively; p=1.0). Seroprevalence of T. gondii infection was associated with a young age onset of disease (p=0.03), high Unified Parkinson Disease Rating Scale scores (p=0.04) and depression (p=0.02). Seropositivity to T. gondii infection was lower in patients treated with pramipexole than in patients without this treatment (p=0.01). However, none of the associations remained significant after Bonferroni correction. The results do not support an association between T. gondii infection and Parkinson's disease. However, T. gondii infection might have an influence on certain symptoms of Parkinson's disease. Further research to elucidate the role of T. gondii exposure on Parkinson's disease is warranted. Published by the BMJ Publishing Group Limited. For permission to use (where not

  10. 613 cases of splenic rupture without risk factors or previously diagnosed disease: a systematic review

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    Aubrey-Bassler F

    2012-08-01

    Full Text Available Abstract Background Rupture of the spleen in the absence of trauma or previously diagnosed disease is largely ignored in the emergency literature and is often not documented as such in journals from other fields. We have conducted a systematic review of the literature to highlight the surprisingly frequent occurrence of this phenomenon and to document the diversity of diseases that can present in this fashion. Methods Systematic review of English and French language publications catalogued in Pubmed, Embase and CINAHL between 1950 and 2011. Results We found 613 cases of splenic rupture meeting the criteria above, 327 of which occurred as the presenting complaint of an underlying disease and 112 of which occurred following a medical procedure. Rupture appeared to occur spontaneously in histologically normal (but not necessarily normal size spleens in 35 cases and after minor trauma in 23 cases. Medications were implicated in 47 cases, a splenic or adjacent anatomical abnormality in 31 cases and pregnancy or its complications in 38 cases. The most common associated diseases were infectious (n = 143, haematologic (n = 84 and non-haematologic neoplasms (n = 48. Amyloidosis (n = 24, internal trauma such as cough or vomiting (n = 17 and rheumatologic diseases (n = 10 are less frequently reported. Colonoscopy (n = 87 was the procedure reported most frequently as a cause of rupture. The anatomic abnormalities associated with rupture include splenic cysts (n = 6, infarction (n = 6 and hamartomata (n = 5. Medications associated with rupture include anticoagulants (n = 21, thrombolytics (n = 13 and recombinant G-CSF (n = 10. Other causes or associations reported very infrequently include other endoscopy, pulmonary, cardiac or abdominal surgery, hysterectomy, peliosis, empyema, remote pancreato-renal transplant, thrombosed splenic vein, hemangiomata, pancreatic pseudocysts, splenic artery aneurysm

  11. 613 cases of splenic rupture without risk factors or previously diagnosed disease: a systematic review.

    Science.gov (United States)

    Aubrey-Bassler, F Kris; Sowers, Nicholas

    2012-08-14

    Rupture of the spleen in the absence of trauma or previously diagnosed disease is largely ignored in the emergency literature and is often not documented as such in journals from other fields. We have conducted a systematic review of the literature to highlight the surprisingly frequent occurrence of this phenomenon and to document the diversity of diseases that can present in this fashion. Systematic review of English and French language publications catalogued in Pubmed, Embase and CINAHL between 1950 and 2011. We found 613 cases of splenic rupture meeting the criteria above, 327 of which occurred as the presenting complaint of an underlying disease and 112 of which occurred following a medical procedure. Rupture appeared to occur spontaneously in histologically normal (but not necessarily normal size) spleens in 35 cases and after minor trauma in 23 cases. Medications were implicated in 47 cases, a splenic or adjacent anatomical abnormality in 31 cases and pregnancy or its complications in 38 cases. The most common associated diseases were infectious (n = 143), haematologic (n = 84) and non-haematologic neoplasms (n = 48). Amyloidosis (n = 24), internal trauma such as cough or vomiting (n = 17) and rheumatologic diseases (n = 10) are less frequently reported. Colonoscopy (n = 87) was the procedure reported most frequently as a cause of rupture. The anatomic abnormalities associated with rupture include splenic cysts (n = 6), infarction (n = 6) and hamartomata (n = 5). Medications associated with rupture include anticoagulants (n = 21), thrombolytics (n = 13) and recombinant G-CSF (n = 10). Other causes or associations reported very infrequently include other endoscopy, pulmonary, cardiac or abdominal surgery, hysterectomy, peliosis, empyema, remote pancreato-renal transplant, thrombosed splenic vein, hemangiomata, pancreatic pseudocysts, splenic artery aneurysm, cholesterol embolism, splenic granuloma

  12. Dilated cardiomiopathy associated with celiac disease: Case report and literature review

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    Milisavljević Nemanja

    2012-01-01

    Full Text Available Introduction. Celiac disease is an inflammatory condition of the small intestinal mucosa induced by gluten consumption in genetically susceptible individuals, leading to a spectrum of gastrointestinal presentation. A number of autoimmune and other disorders are highly associated with celiac disease. Cardiomyopathy associated with celiac disease has been rarely reported in the literature. Case Outline. We present a case of a 27-year-old male with one month history of diarrhea, weight loss, fatigue, dyspeptic symptoms, peripheral edema, and cardiac palpitations. After positive serological screening with immunoglobulin A anti-tissue transglutaminase antibody test, the diagnosis of celiac disease was confirmed with histopathology examination of duodenal biopsy specimen. Echocardiographic findings were consistent with acute myocarditis. After common causes of myocarditis had been excluded, probable celiac disease-associated autoimmune myocarditis was diagnosed. The patient was recommended to undergo a strict life-long gluten-free diet. IgA anti-transglutaminase antibodies, and anti-gliadin antibodies, were both significantly elevated during the 6-, 12- and 18-month follow-up. Low compliance to gluten-free diet in our patient led to progressive worsening of the left ventricular ejective fraction and other serious cardiac complications which warranted invasive cardiac interventions. Conclusion. Dilated cardiomyopathy associated with celiac disease is a serious condition which requires multidisciplinary approach involving gastroenterologist and cardiologist. Compliance with gluten-free diet is mandatory if patients are to avoid progression of cardiomyopathy. Screening of patients with idiopathic dilated cardiomyopathy for celiac disease is advisable.

  13. Case-control study of blink rate in Parkinson's disease under different conditions.

    Science.gov (United States)

    Fitzpatrick, Emily; Hohl, Norman; Silburn, Peter; O'Gorman, Cullen; Broadley, Simon A

    2012-04-01

    Standard neurology texts list a reduced blink rate as one of the clinical features of Parkinson's disease. However, there are few clinical studies which have quantified this clinical sign. Here we present the results of a quantified study in a cohort of cases and controls using a standard protocol. Cases meeting standard criteria for a diagnosis of Parkinson's disease were studied together with age- and sex-matched controls. Baseline data included age, sex, duration of disease, Hoehn and Yahr stage, mini-mental state examination and treatment. Subjects were videoed undertaking three different tasks: being interviewed, watching a video, and reading from a book. Blink rates were calculated as a mean 'per minute' figure for each of the three tasks. A meta-analysis of previous studies of blink rate was undertaken. A total of 20 cases and 41 controls were studied. A decline in blink rate with increasing age was seen for cases but not controls. A significant reduction in blink rate was seen in cases when compared with controls for each of the test conditions. Blink rates were highest in subjects when being interviewed and were lowest whilst reading a passage in both cases and controls. No effect of disease duration, severity or treatment was observed. We have quantified the reduction in blink rate which has long been recognised as a feature of Parkinson's disease. We have identified factors which determine blink rate within individuals. We have also been able to define normal and abnormal levels for blink rate which may be of value clinically and for future research.

  14. A case of successfully managed pregnancy in a patient with complex cyanotic congenital heart disease.

    Science.gov (United States)

    Liu, J Y; Tan, W K; Tan, E L; Tan, J L; Tan, L K

    2017-06-01

    Medical advances have increased survival of patients with congenital heart disease. However, cardiac disease in pregnancy carries significant maternal and fetal risks, posing enormous challenges to obstetricians. Cyanotic congenital heart disease is associated with maternal complications such as arrhythmias, thromboembolic events and death. Fetal complications include small for gestational age, miscarriage and prematurity. Cyanotic congenital heart disease patients who continue their pregnancies require holistic multidisciplinary team care with early and coordinated planning for delivery. Management of such patients include early counseling regarding pregnancy-associated risks, close monitoring of their cardiac function and regular scanning for fetal assessment. Choice of anesthesia for these patients requires meticulous planning to achieve a favorable balance between systemic and pulmonary vascular resistance, ensuring minimal change in right-to-left shunting. We report a case of a successfully managed pregnancy in a patient with complex congenital heart disease and a single ventricle of left ventricle morphology.

  15. Isolated Duodenal Crohn's Disease: A Case Report and a Review of the Surgical Management

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    Faruk Karateke

    2013-01-01

    Full Text Available Crohn's disease may affect any segment of the gastrointestinal tract; however, isolated duodenal involvement is rather rare. It still remains a complex clinical entity with a controversial management of the disease. Initially, patients with duodenal Crohn' s disease (DCD are managed with a combination of antiacid and immunosuppressive therapy. However, medical treatment fails in the majority of DCD patients, and surgical intervention is required in case of complicated disease. Options for surgical management of complicated DCD include bypass, resection, or stricturoplasty procedures. In this paper, we reported a 33-year-old male patient, who was diagnosed with isolated duodenal Crohn’s diseases, and reviewed the surgical options in the literature.

  16. Cogan's Syndrome in Patients With Inflammatory Bowel Disease--A Case Series.

    Science.gov (United States)

    Vavricka, Stephan R; Greuter, Thomas; Scharl, Michael; Mantzaris, Gerassimos; Shitrit, Ariella B; Filip, Rafal; Karmiris, Konstantinos; Thoeringer, Christoph K; Boldys, Hubert; Wewer, Anne V; Yanai, Henit; Flores, Cristina; Schmidt, Carsten; Kariv, Revital; Rogler, Gerhard; Rahier, Jean-François

    2015-10-01

    Cogan's syndrome (CSy) is a very rare autoimmune disorder, mainly affecting the inner ear and the eye, and is associated with inflammatory bowel disease (IBD). This was a European Crohn's and Colitis Organisation (ECCO) retrospective observational study, performed as part of the CONFER project. A call to all ECCO members was made to report concomitant CSy and inflammatory bowel disease (IBD) cases. Clinical data were recorded in a standardized questionnaire. This international case series reports on 22 concomitant CSy-IBD cases from 14 large medical centres. Mean duration of IBD until diagnosis of CSy was 8.7 years (range 0.0-38.0) and mean age at CSy diagnosis was 44.6 years (range 9.0-67.0). Six patients had underlying ulcerative colitis (UC) and 16 had Crohn's disease. Eleven patients (50%) had active disease at CSy diagnosis. Sixteen patients were under IBD treatment at the time of CSy diagnosis, of whom 6 (37.5%) were on anti-tumour necrosis factor (TNF). Seven out of 10 patients, who were treated for CSy with immunomodulators (mostly with corticosteroids), demonstrated at least partial response. This is the largest CSy-IBD case series so far. Although CSy is considered to be an autoimmune disease and is associated with IBD, immunomodulatory IBD maintenance treatment and even anti-TNF therapy do not seem to prevent disease onset. Moreover, IBD disease activity does not seem to trigger CSy. However, vigilance may prompt early diagnosis and directed intervention with corticosteroids at inception may potentially hinder audiovestibular deterioration. Finally, vigilance and awareness may also offer a better setting to study the pathophysiological mechanisms of this rare but debilitating phenomenon. Copyright © 2015 European Crohn’s and Colitis Organisation (ECCO). Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  17. Early infections are associated with increased risk for celiac disease: an incident case-referent study

    Directory of Open Access Journals (Sweden)

    Myléus Anna

    2012-12-01

    Full Text Available Abstract Background Celiac disease is defined as a ‘chronic small intestinal immune-mediated enteropathy precipitated by exposure to dietary gluten in genetically predisposed individuals’. Sweden has experienced an “epidemic” of celiac disease in children below two years of age. Celiac disease etiology is considered multifactorial; however, little is known regarding potential risk- or protecting factors. We present data on the possible association between early infectious episodes and celiac disease, including their possible contribution to the Swedish celiac disease epidemic. Methods A population-based incident case-referent study (475 cases, 950 referents with exposure information obtained via a questionnaire (including family characteristics, infant feeding, and the child’s general health was performed. Celiac disease cases were diagnosed before two years of age, fulfilling the diagnostic criteria of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition. Referents were randomly selected from the national population register after fulfilling matching criteria. The final analyses included 954 children, 373 (79% cases and 581 (61% referents, with complete information on main variables of interest in a matched set of one case with one or two referents. Results Having three or more parental-reported infectious episodes, regardless of type of infection, during the first six months of life was associated with a significantly increased risk for later celiac disease, and this remained after adjusting for infant feeding and socioeconomic status (odds ratio [OR] 1.5; 95% confidence interval [CI], 1.1-2.0; P=0.014. The celiac disease risk increased synergistically if, in addition to having several infectious episodes, infants were introduced to dietary gluten in large amounts, compared to small or medium amounts, after breastfeeding was discontinued (OR 5.6; 95% CI, 3.1-10; P Conclusion This study suggests that having

  18. Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases.

    Science.gov (United States)

    Elmali, Ayşe Deniz; Çetinçelik, Ümran; Işlak, Civan; Uzun Adatepe, Nurten; Karaali Savrun, Feray; Yalçinkaya, Cengiz

    2016-06-01

    The adult-onset Alexander disease (AOAD) dramatically differs from the early onset AD with respect to clinical and neuroradiological findings. Herein we report the detailed clinical and neuroradiological findings of a Turkish family with AOAD. In all three cases, magnetic resonance imaging revealed marked atrophy of the mesencephalon, bulbus, and cervical spinal cord accompanied with signal abnormalities in the same regions along with supratentorial white matter. Basal ganglia were affected in two cases. Molecular genetic analysis revealed heterozygous mutation in the 8th exon of the glial fibrillary acidic protein gene M451I (c.1245G>A), leading to the diagnosis of AOAD in all cases.

  19. Bilateral Legg-Calve-Perthes Disease and Kienbock's Disease in a Child With Factor V Leiden Thrombophilia: A Case Report.

    Science.gov (United States)

    Baltzer, Heather L; Riester, Scott; Moran, Steven L

    2016-09-01

    Background: The etiology of multifocal osteonecrosis is not definitively known; however, hypercoagulable state is a very plausible cause. Methods: We present an unusual case of a 12-year-old boy with a history of Legg-Calve-Perthes disease presenting with right wrist pain who was subsequently diagnosed with Kienbock's disease. The finding of multifocal osteonecrosis prompted testing for a hypercoagulable state that was positive for Factor V Leiden thrombophilia. A thorough literature review using Medline database was conducted to investigate associations between inherited hypercoagulable states and multifocal osteonecrosis. Results: Our literature review identified 2 similar cases of multifocal osteonecrosis associated with a hypercoagulable disorder in adult patients. There were no reports among the pediatric patient population. Meta-analysis has demonstrated a potential link between Legg-Calve-Perthes disease and Factor V Leiden thrombophilia. Conclusions: This study offers further evidence to support the theory that multifocal osteonecrosis may be linked to a hypercoagulable state. Patients presenting with multifocal osteonecrosis should undergo screening for hypercoagulable states. Further investigation is needed to ascertain the potential benefit of prophylactic anticoagulation in patients with a known hypercoagulable state and multifocal osteonecrosis.

  20. Hirayama’s Disease – A Rare Case Report with Review of Literature

    Directory of Open Access Journals (Sweden)

    Narayana Gowda BS

    2013-07-01

    Full Text Available Introduction: Hirayama’s disease is a rare benign disorder, also referred to as monomelic amyotrophy (MMA, Juvenile non progressive amyotrophy, Sobue disease. It is a focal, lower motor neuron type of disease. Mainly young males in their second and third decades of age are most commonly affected. It is seen most commonly in Asian countries like India and Japan. In majority of people cause of this disease is unknown. MRI of cervical spine in flexion will reveal the cardinal features of Hirayama disease. Case Report: A 22 year gentleman came with a history of insidious onset of weakness in both the hands begenning with left side followed by right of 4 years duration. On examination he had clawing of both hands with wasting of forearm muscles. Lower limbs had no abnormality with normal deep tendon reflexes. MRI showed thinning of cord from C4 to C7 level suggestive of cord atrophy. Based on these features a diagnosis of focal amyotrophy was made. A cervical collar was prescribed and patient is under regular follow up. Conclusion: Hirayama disease is a rare self-limiting disease. Early diagnosis is necessary as the use of a simple cervical collar which will prevent neck flexion, has been shown to stop the progression. Keywords: Hirayama’s disease, monomelic amyotrophy, Juvenile non-progressive amyotrophy, Sobue disease.

  1. Familial aggregation of Alzheimer's disease and related disorders: A collaborative re-analysis of case-control studies

    NARCIS (Netherlands)

    C.M. van Duijn (Cornelia); D.G. Clayton (David); V. Chandra; L. Fratiglioni (Laura); A.B. Graves; A. Heyman; A.F. Jorm; E. Kokmen (Emre); K. Kondo; J.A. Mortimer; W.A. Rocca; S.L. Shalat; H. Soininen; A. Hofman (Albert)

    1991-01-01

    textabstractCase-control studies of Alzheimer's disease were re-analysed to examine the association of Alzheimer's disease with family history in first degree relatives of dementia, Down's syndrome and Parkinson's disease. Overall, the relative risk of Alzheimer's disease for those with at least one

  2. [Long-term observation of a case of Hand-Schüller-Christian disease].

    Science.gov (United States)

    Khristov, V; Manov, A; Apostolov, P; Kolebinov, N; Nachev, S

    1989-01-01

    A case is presented of a 28-year-old man with Hand-Schüller-Christian's disease whose initial manifestations were skull bones lesions and a diffuse interstitial fibrosis. Three years later the patient developed diabetes insipidus without changes in the hypothalamic-hypophysial region on computed tomography. Some features of the clinical picture are discussed.

  3. Masquerading acidosis after cardiopulmonary bypass: a case of propionic acidemia and congenital heart disease.

    Science.gov (United States)

    Palermo, Robert A; Monge, Michael C; Charrow, Joel; Costello, John M; Epting, Conrad L

    2015-04-01

    We report the case of a child with both propionic acidemia and cyanotic congenital heart disease. The presence of an underlying inborn error of metabolism confounded the management of this patient in the postoperative period, resulting in therapeutic misdirection until the true etiology of hyperlactemia was recognized. © The Author(s) 2014.

  4. Extralinguistic Communication Compensates for the Loss of Verbal Fluency: A Case Study of Alzheimer's Disease.

    Science.gov (United States)

    Sabat, Steven R.; Cagigas, Xavier E.

    1997-01-01

    The case study of an older woman with Alzheimer's disease shows that while her command of words and syntax had deteriorated, her ability to use other forms of communication had not. Her alternative forms of communication included use of gesture, facial expression, posture, and tone of voice. (MSE)

  5. Pompe disease is a differential diagnosis in case of reduced physical capacity and abnormal muscular fatigue

    DEFF Research Database (Denmark)

    Hansen, Julie Schjødtz; Ellingsen, Anne R; Andreasen, Caroline M

    2014-01-01

    biopsy. Enzyme replacement therapy is now a treatment option, and a prompt diagnosis is therefore relevant. This disease should be considered in patients with unexplained fatigue and reduced physical capacity, especially in case of concurrent elevated levels of creatine kinase and liver enzymes....

  6. Economic Evaluation of Community-Based Case Management of Patients Suffering From Chronic Obstructive Pulmonary Disease

    DEFF Research Database (Denmark)

    Sørensen, Sabrina Storgaard; Pedersen, Kjeld Møller; Weinreich, Ulla Møller

    2017-01-01

    Objectives: To analyse the cost effectiveness of community-based case management for patients suffering from chronic obstructive pulmonary disease (COPD). Methods: The study took place in the third largest municipality in Denmark and was conducted as a randomised controlled trial with 12 months...

  7. Bowen's disease: report of a case in a Nigerian man | Yahya | West ...

    African Journals Online (AJOL)

    Bowen's disease (cutaneous squamous cell carcinoma in situ), like other cancers of the skin, is rare in black people – to our knowledge, only about 43 cases have been published in the medical literature. We report a 59-year old Nigerian man who presented with a five-year history of a mildly pruritic, slowly enlarging ...

  8. Genetic influences on incidence and case-fatality of infectious disease

    DEFF Research Database (Denmark)

    Petersen, Liselotte; Andersen, Per Kragh; Sørensen, Thorkild I A

    2010-01-01

    Family, twin and adoption studies suggest that genetic susceptibility contributes to familial aggregation of infectious diseases or to death from infections. We estimated genetic and shared environmental influences separately on the risk of acquiring an infection (incidence) and on dying from it ...... it (case fatality)....

  9. A case-control study of apolipoprotein E genotypes in Alzheimer's disease associated with Down syndrome.

    NARCIS (Netherlands)

    H.M. Evenhuis (Heleen); C.M. van Duijn (Cornelia); W.A. van Gool (Willem)

    1995-01-01

    textabstractThe prevalence of clinical signs and neuropathological findings of Alzheimer's disease (AD) is high in Down's syndrome (DS). In the general population, the apolipoprotein E (ApoE) epsilon 4 isoform is an important risk for AD. We studied the allelic frequencies of ApoE in 26 DS cases

  10. A case of Menetrier’s disease without Helicobacter pylori or hypoalbuminemia

    Directory of Open Access Journals (Sweden)

    Mina Azer

    2015-01-01

    Conclusion: Menetrier’s disease should be suspected in cases of upper GIT symptoms and hypertrophied gastric mucosa with or without H. pylori or hypoalbuminemia. The preoperative diagnosis could not be confirmed unless a whole mucosal thickness biopsy is performed. Surgical management is a good option when medical treatment fails to relieve the symptoms and erase the risk of malignancy.

  11. Unicentric castleman's disease located in the lower extremity : a case report

    NARCIS (Netherlands)

    Schaefer, Inga-Marie; Guennel, Harald; Schweyer, Stefan; Korenkov, Michael

    2011-01-01

    Background: Castleman's disease is a rare form of localized lymph node hyperplasia of uncertain etiology. Although the mediastinum is the most common site of involvement, rare cases occurring in lymph node bearing tissue of other localization have been reported, including only a few intramuscular

  12. Late-Onset Inflammatory Bowel Disease-Like Syndrome after Ipilimumab Therapy: A Case Report

    Directory of Open Access Journals (Sweden)

    Reem Akel

    2017-05-01

    Full Text Available Background: Antitumor immunotherapy has become a major player in cancer therapy. Ipilimumab is a humanized monoclonal antibody against the cytotoxic T lymphocyte-associated antigen 4 (CTLA-4, an important downregulator of T-cell activation. Ipilimumab has demonstrated tumor regression and improvement in overall survival in patients with metastatic melanoma. Unfortunately, immune activation induced by this drug has been associated with several immune-mediated adverse effects, namely diarrhea and colitis. Case Presentation: We report the case of a 71-year-old male patient diagnosed with BRAF wild-type metastatic melanoma treated with three cycles of ipilimumab, after which he developed grade 3 enteritis. The patient improved on treatment with steroids, and ipilimumab was permanently discontinued at this point. Three years later, the patient’s diarrhea returned and colonoscopy revealed active chronic colitis with ulceration resembling inflammatory bowel disease. He was started on Asacol (mesalamine. The patient did not report extraintestinal symptoms typically associated with inflammatory bowel disease, nor did he have a personal or family history of bowel disorders. Moreover, his presentation was not typical of inflammatory bowel disease in the elderly. Conclusion: Our findings suggest a link between ipilimumab-induced grade 3 enteritis and late-onset inflammatory bowel disease-like syndrome. To our knowledge, the case is the first in the literature to report late-onset inflammatory bowel disease-like syndrome years after discontinuation of ipilimumab treatment.

  13. [Forensic Analysis of 6 Cases of Sudden Death due to Hyperthyroid Heart Disease].

    Science.gov (United States)

    Zhang, M Z; Li, B X; Zhao, R; Guan, D W; Zhang, G H; Wu, X; Zhu, B L; Li, R B

    2017-10-01

    To analyse the cases of sudden death due to hyperthyroid heart disease, and explore the general information of deaths and the forensic pathological characteristics to provide reference evidence for forensic identification of such cases. Six cases of sudden death due to hyperthyroid heart disease between 2001 and 2016 were selected from School of Forensic Medicine, China Medical University. The general information (gender and age), clinical manifestations, medical history, anatomical and histopathological findings, biochemical parameters and cause of death were analysed retrospectively. Most of the 6 patients had definite history of hyperthyroidism, and they all showed certain degrees of symptoms of cardiovascular disease; had obvious incentive factors of death; histopathological examination of thyroid conformed to the performances of diffuse toxic goiter; with increase of cardiac weight, dilatation of cardiac chambers, myocardial hypertrophy and focal necrosis; postmortem biochemical analyses of pericardial fluid could be used as an additional method for diagnostic of sudden death due to hyperthyroid heart disease. The identification of death due to hyperthyroid heart disease should be based on the clinical history and the results of autopsy, histopathological examination, postmortem toxicology tests. The postmortem biochemical detection of thyroid and cardiac function should be performed if necessary.

  14. Disease associated with equine coronavirus infection and high case fatality rate.

    Science.gov (United States)

    Fielding, C L; Higgins, J K; Higgins, J C; McIntosh, S; Scott, E; Giannitti, F; Mete, A; Pusterla, N

    2015-01-01

    Equine coronavirus (ECoV) is associated with clinical disease in adult horses. Outbreaks are associated with a low case fatality rate and a small number of animals with signs of encephalopathic disease are described. The aim of this study is to describe the epidemiological and clinical features of two outbreaks of ECoV infection that were associated with an high case fatality rate. 14 miniature horses and 1 miniature donkey testing fecal positive for ECoV from two related disease outbreaks. Retrospective study describing the epidemiological findings, clinicopathological findings, and fecal viral load from affected horses. In EcoV positive horses, 27% (4/15) of the animals died or were euthanized. Severe hyperammonemia (677 μmol/L, reference range ≤ 60 μmol/L) was identified in one animal with signs of encephalopathic disease that subsequently died. Fecal viral load (ECoV genome equivalents per gram of feces) was significantly higher in the nonsurvivors compared to animals that survived (P = .02). Equine coronavirus had a higher case fatality rate in this group of miniature horses than previously reported in other outbreaks of varying breeds. Hyperammonemia could contribute to signs of encephalopathic disease, and the fecal viral load might be of prognostic value in affected horses. Copyright © 2014 by the American College of Veterinary Internal Medicine.

  15. Dermoscopic and reflectance confocal microscopic presentation of Hailey-Hailey disease: A case series.

    Science.gov (United States)

    Oliveira, A; Arzberger, E; Pimentel, B; de Sousa, V C; Leal-Filipe, P

    2017-08-07

    Hailey-Hailey disease is a rare inherited acantholytic skin disorder characterized by heterogeneous clinical presentation. Its differential diagnosis might be wide, including other genodermatoses, inflammatory, and infectious skin diseases. Although histopathology remains as diagnostic gold standard, noninvasive techniques such as dermoscopy and reflectance confocal microscopy may assist clinical examination. Herein, we aim to further characterize the dermoscopic and reflectance confocal microscopic presentation of Hailey-Hailey disease with histologic correlation. Eight patients with Hailey-Hailey disease were consecutively recruited. All patients were examined using dermoscopy and reflectance confocal microscopy. In all cases, dermoscopy enabled the visualization of polymorphous vessels, including glomerular and linear-looped vessels, within a pink-whitish background. Reflectance confocal microscopy revealed wide suprabasilar partial acantholysis and clefting, crusts, dilated papillae with tortuous vessels, and inflammatory cells. Dyskeratosis, uplocated papillae, and adnexal sparing were also observed. Although definite diagnosis was obtained by histopathology in all cases, dermoscopy and reflectance confocal microscopy allowed the identification of common features (even in cases with dissimilar clinical presentation) that may support an early diagnosis of Hailey-Hailey disease, and its differentiation from other more frequent skin disorders. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  16. Elderly kendo (Japanese fencing) player with Kienböck's disease in one wrist and Preiser's disease in the other wrist: a case report.

    Science.gov (United States)

    Iwasaki, Norimasa; Masuko, Tatsuya; Funakoshi, Tadanao; Minami, Akio

    2010-01-01

    Elderly patients suffering from avascular necrosis of a carpal bone in both wrists are extremely rare. We report a case of an elderly kendo (Japanese fencing) competitor who sustained Preiser's disease in the left hand following the occurrence of Kienböck's disease in the right hand. The current case demonstrates the importance of raising awareness of these diseases as potential sports-related problems in the elderly.

  17. Castleman Disease in the Kidney and Retroperitoneum Mimicking Renal Cell Carcinoma with Retroperitoneal Lymphadenopathy: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Ko, Hee Sun; Woo, Ji Young; Hong, Hye Suk; Jung, Ah Young; Yang, Ik; Lee, Yul [Dept. of Radiology, Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul (Korea, Republic of)

    2012-09-15

    Castleman disease, or angiofollicular lymph node hyperplasia, is a fairly rare benign tumor of lymphoid origin with unknown etiology. Castleman disease arises mostly in the mediastinum, and some cases of renal and retroperitoneal involvement have been reported. However, Castleman disease that simultaneously involves the kidney and regional lymph nodes has not been reported in radiologic literature. We report a case of renal and pararenal Castleman disease, mimicking renal cell carcinoma with retroperitoneal lymphadenopathy.

  18. [Type I Gaucher's disease: clinical, evolutive and therapeutic features in 8 cases].

    Science.gov (United States)

    Giraldo, P; Pérez-Calvo, J; Cortés, T; Civeira, F; Rubio-Félix, D

    1994-02-01

    To analyse the clinical features, course and treatment of a group of patients with type I Gaucher's disease. The study comprises 8 patients diagnosed in childhood or young age, except for one, diagnosed in adulthood. The follow-up ranges from 1 to 26 years (mean, 15 years). The diagnosis was usually established by identification of Gaucher cells in the bone marrow or other tissues; enzyme and genotype studies were performed in 5 cases. In the patients receiving substitutive therapy with Alglucerase the dosage was 5 U/kg/day twice a week (2 cases) or 30 U/Kg every second week (1 case). The mean age of the patients at diagnosis was 22 years (range, 4-52) and the M/F ratio was 1.0. Splenectomy was carried out in 5 of the 8 cases between 2 months and 13 years since diagnosis, because of severe cytopenia due to hypersplenism; severe haemorrhage appeared in two cases. Prophylactic antibiotics against capsulated germs were given to all the patients undergoing splenectomy, no infectious episodes appearing in their clinical course. Lipid deposition hepatomegaly was present in 7 cases, ranging between 2 and 20 cm.; Gaucher cells and fibrosis were seen in liver biopsies. Skin involvement was present in one case, and pingueculae in 6. Bone lesions were seen in 5 patients. Neurological manifestations were absent in every case. Positive serology for CVH was found in 3 cases and for BVH in one other. Alglucerase treatment: Striking clinical improvement was seen six months after starting this therapy, hepatomegaly being reduced in 9 cm in case No 1, while pain and hip dysfunction subside in case No 2 and blood cell counts recovered in case No 3. No adverse side-effects were appreciated with this treatment. Gaucher's disease is an unusual disorder, with ill-defined incidence in our environment. The commonest symptoms include cytopenia and/or visceromegalia. The clinical course is usually torpid, with high morbidity requiring hospitalization due to haemorrhage, surgery or bone

  19. Addison's disease presenting with idiopathic intracranial hypertension in 24-year-old woman: a case report

    Directory of Open Access Journals (Sweden)

    Moore Peter

    2010-02-01

    Full Text Available Abstract Introduction Idiopathic intracranial hypertension can rarely be associated with an underlying endocrine disorder such as Cushing's syndrome, hyperthyroidism, or with administration of thyroxine or growth hormone. Though cases of idiopathic intracranial hypertension associated with Addison's disease in children have been reported, there is only one documented case report of this association in adults. We describe a case of an acute adrenal insufficiency precipitated by idiopathic intracranial hypertension in a Caucasian female. Case presentation A 24-year-old Caucasian woman was acutely unwell with a background of several months of generalised fatigue and intermittent headaches. She had unremarkable neurological and systemic examination with a normal computerised tomography and magnetic resonance imaging of the brain. Normal cerebrospinal fluid but increased opening pressure at lumbar puncture suggested intracranial hypertension. A flat short synacthen test and raised level of adrenocorticotrophic hormone were consistent with primary adrenal failure. Conclusion Addison's disease can remain unrecognised until precipitated by acute stress. This case suggests that idiopathic intracranial hypertension can rarely be associated with Addison's disease and present as an acute illness. Idiopathic intracranial hypertension is possibly related to an increase in the levels of arginine vasopressin peptide in serum and cerebrospinal fluid secondary to a glucocorticoid deficient state.

  20. Prediction of Disease Case Severity Level To Determine INA CBGs Rate

    Science.gov (United States)

    Puspitorini, Sukma; Kusumadewi, Sri; Rosita, Linda

    2017-03-01

    Indonesian Case-Based Groups (INA CBGs) is case-mix payment system using software grouper application. INA CBGs consisting of four digits code where the last digits indicating the severity level of disease cases. Severity level influence by secondary diagnosis (complications and co-morbidity) related to resource intensity level. It is medical resources used to treat a hospitalized patient. Objectives of this research is developing decision support system to predict severity level of disease cases and illustrate INA CBGs rate by using data mining decision tree classification model. Primary diagnosis (DU), first secondary diagnosis (DS 1), and second secondary diagnosis (DS 2) are attributes that used as input of severity level. The training process using C4.5 algorithm and the rules will represent in the IF-THEN form. Credibility of the system analyzed through testing process and confusion matrix present the results. Outcome of this research shows that first secondary diagnosis influence significant to form severity level predicting rules from new disease cases and INA CBGs rate illustration.

  1. Perivascular fibrosis and IgG4-related disease: a case report

    Directory of Open Access Journals (Sweden)

    S. Monti

    2014-11-01

    Full Text Available Immunoglobulin G4-related disease (IgG4-RD is a newly recognized fibroinflammatory condition which can potentially involve any organ. Some characteristic histopathologic features with lymphoplasmacytic infiltrate, an increased number of IgG4+ cells, storiform fibrosis and obliterative phlebitis are the mainstay for diagnosis. Serum IgG4 levels often increase. We report the case of a patient with perivascular fibrotic lesions involving the aortic arch and the splenic hilum, with a surgical biopsy-proven diagnosis of IgG4-related disease. The patient is now undergoing a low-dose corticosteroid maintenance therapy without evidence of new localizations of the disease. This case highlights the need for increasing awareness and recognition of this new, emerging clinical condition.

  2. The Helicobacter pylori theory and duodenal ulcer disease. A case study of the research process

    DEFF Research Database (Denmark)

    Christensen, A H; Gjørup, T

    1995-01-01

    OBJECTIVES: To describe the medical research process from the time of the generation of a new theory to its implementation in clinical practice. The Helicobacter pylori (H. pylori) theory, i.e. the theory that H. pylori plays a significant causal role in duodenal ulcer disease was chosen as a case....... MATERIAL: Abstracts from 1984 to 1993, identified in the CD-Rom, Medline system, ("Silverplatter"), using the search terms Campylobacter pylori and Helicobacter pylori, and reviews and editorials about H. pylori in some of the most widespread clinical journals. RESULTS: 2204 papers on H. pylori were....... pylori in duodenal ulcer disease had been published in some of the most widespread clinical journals. In half of the papers the authors were convinced of the causal role of H. pylori in duodenal ulcer disease, while in the remainder they were sceptical. In seven cases the authors stated which patients...

  3. A case-control study of Alzheimer's disease in Japan--significance of life-styles.

    Science.gov (United States)

    Kondo, K; Niino, M; Shido, K

    1994-01-01

    A case-control study of Alzheimer's disease was conducted in Japan; it involved 60 cases matched for sex and age with two resident controls each. Life-style was particularly highlighted in this study. Among many factors, 5 were accepted as significant risk factors: psychosocial inactivity, physical inactivity, head injury, loss of teeth and low education. A multiple logistic model was applied in order to evaluate synergism of major factors. Compared with those who have none of the factors, those who have all were 934.5 times more liable to develop Alzheimer's disease. Risk factors are not only useful for etiological studies but they give clues to identify high-risk individuals, and by eliminating these factors, the studies may also be applicable in the primary and the secondary prevention of this tragic disease.

  4. Takayasu's disease presenting as convulsive syncope which had been misinterpreted as epilepsy: a case report

    Directory of Open Access Journals (Sweden)

    Menon Bindu

    2010-11-01

    Full Text Available Abstract Introduction Takayasu's arteritis is a chronic vasculitis mainly involving the aorta and its main branches. The disease has protean clinical manifestation ranging from asymptomatic to catastrophic illness. Case presentation A 19-year-old woman of Asian origin was referred to our neurology out-patient department for the management of refractory seizures. She reported several episodes of a loss of consciousness with tonic posturing when she assumed an upright position, which was accompanied by constitutional symptoms. A clinical examination showed orthostatic hypotension and an investigation confirmed the diagnosis of Takayasu's disease with presentation as convulsive syncope. Conclusion Our case highlights the importance of a thorough clinical history and physical examination in order to distinguish events mimicking epileptic seizure. We also describe an unusual presentation of Takayasu's disease with convulsive syncope and systemic constitutional symptoms.

  5. A case of disseminated hydatid disease by surgery involving multiple organs

    Directory of Open Access Journals (Sweden)

    Asli Tanrivermis Sayit

    2014-09-01

    Full Text Available Hydatid disease is the most common parasitic infection in the world, and is caused by the parasite Echinococcus granulosus. The most common site of this disease is the liver (75%, followed by the lungs, kidney, bones, and brain. Multiple abdominal organ and peritoneal involvement can also be seen in some cases. The dissemination of hydatid cyst disease can develop spontaneously or secondary to trauma or surgery. Here, we present the case of a 69-year-old man with multiple cyst hydatidosis, who underwent surgery for acute appendicitis approximately 20 years previously. Computed tomography of the abdomen shows the multiple active and inactive cystic lesions in the liver, spleen, right kidney, and mesentery. This patient required surgery several times, as well as medical treatment, after the rupture of a mesenteric hydatid cyst during the appendectomy. Combined anthelmintic treatment was recommended to the patient who refused further surgical treatment.

  6. A Rare Congenital Heart Disease in an Elderly Long-Distance Runner: A Case Report

    Directory of Open Access Journals (Sweden)

    K. R. Bhamidipati

    2012-01-01

    Full Text Available Introduction. Cor triatriatum is a rare congenital heart disease found incidentally in children. Although cor triatriatum can be an incidental finding in asymptomatic adults; it is extremely rare to find elderly patients without symptoms and is unique in a long distance runner. Case Presentation. We present the case of an 83-year-old long-distance runner with cor triatriatum sinistrum and atrial fibrillation who continues to be asymptomatic and has continued to run long distances, retaining his excellent functional capacity. Conclusion. Cor triatriatum sinistrum is a rare congenital disease, which is often found incidentally in children. Although it is also seen in adults without symptoms at normal exertion, it is rare to have this condition in long-distance runners especially in elderly people with other structural heart disease, that is, atrial fibrillation and mitral regurgitation.

  7. An Unusual Case of Mammary Paget’s Disease Diagnosed Using Dynamic Contrast-Enhanced MRI

    Directory of Open Access Journals (Sweden)

    Eleonora Gaspari

    2013-01-01

    Full Text Available Mammary Paget’s disease is a rare presentation of breast cancer. At clinical examination, it is characterized by skin lesions of the nipple-areola complex, almost always a sign of malignancy. In fact, it is often associated with an underlying mammary ductal carcinoma in situ (DCIS or invasive carcinoma. An underlying carcinoma is also common in women with negative mammography and ultrasound (US; in these cases, magnetic resonance imaging (MRI is a diagnostic tool useful in the detection of occult cancer. We described an unusual case of mammary Paget’s disease with underlying DCIS, in a patient without nipple-areola complex alterations and/or palpable lump. On suspicion of Paget’s disease, the patient underwent MRI examination that proved useful for an accurate diagnosis. Biopsy confirmed dynamic MRI findings.

  8. Refractory Celiac Disease Type II: A Case Report that Demonstrates the Diagnostic and Therapeutic Challenges

    Directory of Open Access Journals (Sweden)

    Alexandra Fernandes

    2016-03-01

    Full Text Available Refractory celiac disease is an uncommon but serious complication of celiac disease. We describe a case of a severe refractory celiac disease type II, complicated with ulcerative jejunoileitis, in a 68 years old female, unresponsive to consecutive treatments with budesonide, prednisolone, cladribine and autologous stem cell transplantation. The patient maintained severe malnutrition, advanced osteoporosis, anaemia, vitamin deficiencies and hydro-electrolytic imbalances, necessitating consecutive hospitalizations for total parenteral nutrition. The patient also developed life-threatening complications, namely respiratory and urinary septic shock and also episodes of haemorrhagic shock secondary to ulcerative jejunoileitis. The progression to enteropathy associated T-cell lymphoma was never demonstrated, but the patient died 7 years after the diagnosis due to a septic shock secondary to a nosocomial pneumonia and osteomyelitis related to a spontaneous hip fracture. This case highlights the difficulties in the diagnostic process, therapeutic management and surveillance of this rare condition associated with very poor prognosis.

  9. Rare association of Fahr’s disease with multiple myeloma: A case report

    Directory of Open Access Journals (Sweden)

    Tripathy KP, Behera PK, Dalai RK, Misra GC

    2014-07-01

    Full Text Available Fahr’s disease or Fahr’s syndrome is a rare neurological disorder characterized by abnormal calcified deposits in the basal ganglia and cerebral cortex. 47 years male who presented to us with progressive ataxia and Parkinsonian symptoms was found to have extensive bilateral calcifications including bilateral basal ganglia in CT scan of the brain. The secondary causes of intracranial calcifications were ruled out to make a clinical diagnosis of Fahr’s disease. While investigating for chronic low back pain with anemia and renal failure, high ESR and serum protein electrophoresis showing M band was detected. On further investigation, the bone marrow study confirmed the diagnosis of multiple myeloma. There are only few case reports of association of Fahr’s disease and multiple myeloma in literature. The case is being reported here in view of rarity.

  10. Congenital Chagas disease of second generation in Santiago, Chile. Report of two cases

    Directory of Open Access Journals (Sweden)

    SCHENONE Hugo

    2001-01-01

    Full Text Available Congenital Chagas disease (CChD has been reported in different countries, mostly in Latin America. In 1987 a fatal case of CChD of second generation (CChDSG was published. Within a period of six months - 1989-1990 - two cases of CChDSG were diagnosed and studied in the city of Santiago. Two premature newborns, sons of two sisters, with moderate liver and spleen enlargement, were found to have positive serology for Chagas disease and xenodiagnoses. The mothers, urban residents all their lives, without antecedents of triatomine bugs contact or blood transfusions, showed positive serology and xenodiagnoses. Their mother (grandmother of the infants, lived 20 years in a Northern rural Chagas disease endemic locality, in a triatomine infested house. Afterwards, she moved to Santiago, where she married and has resided up to now. Serology and xenodiagnoses were also positive. All the Trypanosoma cruzi infected individuals were successfully treated with nifurtimox.

  11. A Case of Sarcoidosis with Interstitial Lung Disease Mimicking Clinically Amyopathic Dermatomyositis and Rapidly Progressive Interstitial Lung Disease

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    Shinji Sato

    2014-01-01

    Full Text Available Here, we report a patient with sarcoidosis who developed edematous erythema and interstitial lung disease. At the initial visit, clinically amyopathic dermatomyositis (CADM with rapidly progressive interstitial lung disease (RP-ILD was suspected because he had progressive dyspnea but no muscle weakness. The presence of anti-CADM-140/MDA5 autoantibodies was immediately assessed to facilitate a precise diagnosis, with negative results. Thereafter, skin and transbronchial lung biopsies revealed noncaseating granuloma with Langhans giant cells in both specimens, leading to a diagnosis of sarcoidosis. In this case, clinical features of skin and lung were unable to distinguish DM (including CADM from sarcoidosis, but the lack of anti-CADM-140/MDA5 antibody was useful for differentiating CADM with RP-ILD mimicking sarcoidosis from bona fide sarcoidosis.

  12. A Case of Sarcoidosis with Interstitial Lung Disease Mimicking Clinically Amyopathic Dermatomyositis and Rapidly Progressive Interstitial Lung Disease

    Science.gov (United States)

    Nogi, Shinichi; Sasaki, Noriko; Chinen, Naofumi; Honda, Kiri; Saito, Eiko; Wakabayashi, Takayuki; Yamada, Chiho; Suzuki, Yasuo

    2014-01-01

    Here, we report a patient with sarcoidosis who developed edematous erythema and interstitial lung disease. At the initial visit, clinically amyopathic dermatomyositis (CADM) with rapidly progressive interstitial lung disease (RP-ILD) was suspected because he had progressive dyspnea but no muscle weakness. The presence of anti-CADM-140/MDA5 autoantibodies was immediately assessed to facilitate a precise diagnosis, with negative results. Thereafter, skin and transbronchial lung biopsies revealed noncaseating granuloma with Langhans giant cells in both specimens, leading to a diagnosis of sarcoidosis. In this case, clinical features of skin and lung were unable to distinguish DM (including CADM) from sarcoidosis, but the lack of anti-CADM-140/MDA5 antibody was useful for differentiating CADM with RP-ILD mimicking sarcoidosis from bona fide sarcoidosis. PMID:25431723

  13. Use of Implantable Venous Port Systems in the Treatment of Children with Orphan Diseases (Mucopolysaccharidosis and Pompe Disease: Case Series

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    M. Yu. Rykov

    2015-01-01

    Full Text Available Many orphan diseases in children require life-long and regular intravenous enzyme replacement therapy. The article describes the first Russian practice of implanting venous port systems in 12 patients with type I and II mucopolysaccharidosis and Pompe disease (6 months to 17 years old to create long-term venous access. Currently, implantable venous port systems are used in 9 (75% of 12 patients. 4 cases of thrombosis are observed in 3 patients. All of them have been successfully treated. 1 patient had a rotation of the port camera with a membrane facing downwards due to violation of an implantation technique. The camera was adjusted during the second operation.

  14. Testosterone effect on brain metabolism in elderly patients with Alzheimer's disease: comparing two cases at different disease stages.

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    Tan, R S

    2013-06-01

    To describe the effect of testosterone replacement therapy (TRT) on the brain activity of two demented, hypogonadal male patients with early and late-stage Alzheimer's disease (AD), respectively. We describe the clinical and positron emission tomography (PET) findings for two individuals, one with early stage and the other with late-stage Alzheimer's disease, before and after treatment with a topical testosterone gel. Both patients were hypogonadal at baseline. We assessed cerebral glucose metabolism (CGM) via (18)F-fluorodeoxyglucose (FDG)-positron emission tomography (PET). We investigated whether there are testosterone-susceptible areas within cerebral structures in patients with Alzheimer's disease. Under testosterone replacement therapy, changes in cerebral glucose metabolism were observed in both patients. Improvement in glucose uptake was observed most consistently in the parietal lobe and brainstem; decreased glucose metabolism was observed in the temporal lobe, the limbic system and the insula for these two subjects. These case reports demonstrate the potential for PET scanning to detect changes in cerebral glucose metabolism in hypogonadal men with Alzheimer's disease who are treated with testosterone. Further study will be needed to investigate the consistency and significance of these changes in terms of magnitude and brain region, and the correlation with functional changes.

  15. AIRE genetic variants and predisposition to polygenic autoimmune disease: The case of Graves' disease and a systematic literature review.

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    Colobran, Roger; Giménez-Barcons, Mireia; Marín-Sánchez, Ana; Porta-Pardo, Eduard; Pujol-Borrell, Ricardo

    2016-08-01

    Autoimmune Regulator (AIRE) is a transcriptional regulator that is crucial for establishing central tolerance as illustrated by the Mendelian Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) syndrome associated with AIRE-inactivating recessive or dominant mutations. Polymorphisms in AIRE have been proposed to be implicated in genetic susceptibility to non-Mendelian organ specific autoimmune diseases. Because there is evidence that in predisposition to Graves' disease (GD) central tolerance is crucial, we investigated whether AIRE polymorphisms could modulate risk of GD. A case-control association study using 29 variants and conducted in 150 GD patients and 200 controls did not detect any significant association. This result is not exceptional: a systematic review of the literature, including GWAS, on the association of AIRE variants with organ specific autoimmune diseases did not show clear associations; similarly heterozygous recessive mutations are not associated to non-Mendelian autoimmunity. Dominant negative mutations of AIRE are associated to autoimmunity but as mild forms of APECED rather than to non-Mendelian organ specific autoimmunity. The lack of association of common AIRE polymorphisms with polygenic autoimmune diseases is counterintuitive as many other genes less relevant for immunological tolerance have been found to be associated. These findings give rise to the intriguing possibility that evolution has excluded functionally modifying polymorphisms in AIRE. Copyright © 2016 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  16. Bilateral congenital lumbar hernias in a patient with central core disease--A case report.

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    Lazier, Joanna; Mah, Jean K; Nikolic, Ana; Wei, Xing-Chang; Samedi, Veronica; Fajardo, Carlos; Brindle, Mary; Perrier, Renee; Thomas, Mary Ann

    2016-01-01

    Congenital lumbar hernias are rare malformations caused by defects in the development of the posterior abdominal wall. A known association exists with lumbocostovertebral syndrome; however other associated anomalies, including one case with arthrogryposis, have been previously reported. We present an infant girl with bilateral congenital lumbar hernias, multiple joint contractures, decreased muscle bulk and symptoms of malignant hyperthermia. Molecular testing revealed an R4861C mutation in the ryanodine receptor 1 (RYR1) gene, known to be associated with central core disease. This is the first reported case of the co-occurrence of congenital lumbar hernias and central core disease. We hypothesize that ryanodine receptor 1 mutations may interrupt muscle differentiation and development. Further, this case suggests an expansion of the ryanodine receptor 1-related myopathy phenotype to include congenital lumbar hernias. Copyright © 2015 Elsevier B.V. All rights reserved.

  17. Cor Triatriatum Sinistrum Presenting as Cyanotic Congenital Heart Disease A Rare Case Report

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    Rajendra Gokhroo

    2015-03-01

    Full Text Available   Cor triatriatum is an acyanotic congenital heart disease. We present a rare case of cor triatriatum sinistrum in a 6-month-old female infant who was presented with cyanosis and failure to thrive. The 2D transthoracic echocardiography and the Doppler color flow imaging showed a proximal venous chamber communicating to the distal left atrium  through restrictive opening to the low-pressure, distal left atrial chamber. The Saline Contrast Echocardiography confirmed a right-to-left atrial shunt due to a minor atrial septal defect. The defect was caused by a persistent pulmonary hypertension which had raised the right atrial pressure in the infant. To the best of our knowledge, barely any such cases have been reported in the literature so far. Our report highlights the clinical utility of the Saline Contrast Echo in other cases of congenital heart diseases.

  18. Diverticular disease of the colon presenting as pyometra: a case report

    Science.gov (United States)

    2014-01-01

    Introduction Pyometra can be caused by various etiologies. We present a rare case of diverticular disease of the colon presenting as pyometra. This type of presentation can be challenging even for an astute clinician. Case presentation A 74-year-old Caucasian woman with a history of pyometra was referred to our gynecology clinic as an urgent case. She was obese, diabetic and hypertensive. Due to the patient profile and the clinical presentation, clinicians were misled toward a diagnosis of possible endometrial cancer. After further investigations, she was found to have colouterine fistula secondary to a diverticular abscess of the sigmoid colon. Conclusions Persistent vaginal discharge due to pyometra can be caused by diverticular disease of the colon. Clinicians should be aware of this important differential diagnosis. PMID:24886345

  19. Recognition and treatment of Alzheimer's disease: a case-based review.

    Science.gov (United States)

    Marseille, Dana M; Silverman, Daniel H S

    2006-01-01

    Early recognition and treatment initiation are pivotal in managing Alzheimer's disease (AD). Once a diagnosis of AD is made, a treatment plan is developed and should include treatment initiation with cholinesterase inhibitors (ChEIs) to improve cognition, management of comorbid conditions, and treat behavioral symptoms. Caregiver compliance is integral to AD treatment success. The purpose of this report is to present two real case studies of "suspected" AD or related dementia and stress the significance of early and accurate diagnosis in disease management. In case 1, a caregiver reports gradual but progressive loss of memory, and the patient himself complains of memory impairment. Neuroimaging analysis confirms "typical " AD. In case 2, initiation of ChEI therapy is followed by substantial clinical improvement in the face of a complex medical picture, and neuroimaging revealing more neurodegenerative changes than could be accounted for by "pure" AD.

  20. Intracardiac thrombus in Behçet's disease: Two case reports

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    Brahem Radhia

    2005-07-01

    Full Text Available Abstract Intracardiac thrombus in Behçet's disease is an extremely rare manifestation. We report two such cases. A 20-year-old man presented with dyspnoea, cough and haemoptysis. Right heart thrombus associated with pulmonary artery aneurysm and thromboembolism was identified by helical CT and transoesophageal echocardiography. The second case was a 29-year-old male admitted for fever and chest pain. A diagnosis of right atrial thrombosis associated with pulmonary embolism and hyperhomocysteinemia was made. Due to the absence of haemodynamic compromise, medical management consisting of immunosupressive and anticoagulation therapy was adopted which resulted in complete dissolution of the thrombus with dramatic clinical improvement in both cases of clinical status. Conclusion intracardiac thrombus is a rare complication of Behçet's disease. As shown in our patients, medical treatment should be considered as the first line.