Multiple Autoimmune Syndromes Associated with Psoriasis: A Rare Clinical Presentation

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Sadia Masood

2014-03-01

Full Text Available Autoimmune diseases are known to have association with each other but it is very rare to see multiple autoimmune diseases in one patient. The combination of at least three autoimmune diseases in the same patient is referred to as multiple autoimmune syndrome. The case we are reporting features multiple autoimmune syndrome with five different conditions. The patient had type 1 diabetes mellitus, autoimmune hemolytic anemia, systemic lupus erythematosus, vitiligo, and psoriasis. Psoriasis has rarely been reported previously under the spectrum of autoimmune syndrome. Although the relationship of autoimmune conditions with each other has been explored in the past, this case adds yet another dimension to the unique evolution of autoimmune pathologies. The patient presented with a combination of five autoimmune diseases, which makes it consistent type three multiple autoimmune syndromes with the addition of psoriasis. The current case is unique in this aspect that the combination of these five autoimmune disorders has never been reported in the past.

Fatal methemoglobinemia complicating alkaptonuria (ochronosis): a rare presentation.

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Freeman, Amanda R; Wills, Stephen M

2018-06-01

A 61-year-old female died in hospital with multiple organ failure 4 weeks following presentation with acute kidney injury, hemolytic anemia and methemoglobinemia. At autopsy, brown to black discoloration of cartilages was observed. Histology revealed brown pigmentation of the hyaline cartilage, with focal full-thickness erosion of the articular hyaline cartilage, characteristic of alkaptonuria (ochronosis). Although alkaptonuria is rarely fatal, this case illustrates a rare acute fatal complication. Accumulation of circulating homgentisic acid secondary to acute derangement of renal function is believed to have overwhelmed the endogenous antioxidant processes, resulting in hemolysis and methemoglobinemia, which were refractory to treatment. Small numbers of cases have previously been reported in the literature in patients known to suffer with the disease, all of which were preceded by acute kidney injury. Whilst the clinical diagnosis of alkaptonuria may be challenging, the autopsy findings of this rare condition are striking and this case illustrates the utility of the autopsy, albeit retrospectively, in arriving at a diagnosis. To our knowledge this is the first reported case where previously undiagnosed alkaptonuria has presented with methemoglobinemia.

Heavy and Light chain amyloidosois presenting as complete heart block: A rare presentation of a rare disease.

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Priyamvada, P S; Morkhandikar, S; Srinivas, B H; Parameswaran, S

2015-01-01

Amyloidosis is an uncommon disease characterized by deposition of proteinaceous material in the extracellular matrix, which results from abnormal protein folding. Even though more than 25 precursor proteins are identified, majority of systemic amyloidosis results from deposition of abnormal immunoglobulin (Ig) light chains. In heavy chain amyloidosis (AH), deposits are derived from both heavy chain alone, whereas in heavy and light chain amyloidosis (AHL), the deposits are derived from Ig heavy chains and light chains. Both AH and AHL are extremely rare diseases. Here, we report an unusual presentation of IgG (lambda) AHL amyloidosis in the background of multiple myeloma, where the initial clinical presentation was complete heart block, which preceded the definitive diagnosis by 18 months.

Revisiting Cementoblastoma with a Rare Case Presentation

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Vijayanirmala Subramani

2017-01-01

Full Text Available Cementoblastoma is a rare benign odontogenic neoplasm which is characterized by the proliferation of cellular cementum. Diagnosis of cementoblastoma is challenging because of its protracted clinical, radiographic features, and bland histological appearance; most often cementoblastoma is often confused with other cementum and bone originated lesions. The aim of this article is to overview/revisit, approach the diagnosis of cementoblastoma, and also present a unique radiographic appearance of a cementoblastoma lesion associated with an impacted tooth.

Splenic abscess: a rare presentation

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Mohit Bhatia

2015-01-01

Full Text Available Splenic abscess is a rare clinical entity with an incidence of 0.2-0.7% in autopsy-based studies. When untreated, splenic abscess is associated with nearly 100% mortality; in treated patients, the mortality rate is 16.6% during the first 90 days. It mostly occurs in patients with neoplasia, immunodeficiency, trauma, diabetes or splenic infarct. The incidence of splenic abscess is thought to be growing because of the increase in the number of immunocompromised patients who are particularly at risk for this disease and also because of the widespread use of diagnostic modalities. However, the optimal treatment for this remains unclear. We present a case of a 42-year-old man diagnosed with multiloculated splenic abscess and was subjected to splenectomy.

Heavy and Light chain amyloidosois presenting as complete heart block: A rare presentation of a rare disease

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P S Priyamvada

2015-01-01

Full Text Available Amyloidosis is an uncommon disease characterized by deposition of proteinaceous material in the extracellular matrix, which results from abnormal protein folding. Even though more than 25 precursor proteins are identified, majority of systemic amyloidosis results from deposition of abnormal immunoglobulin (Ig light chains. In heavy chain amyloidosis (AH, deposits are derived from both heavy chain alone, whereas in heavy and light chain amyloidosis (AHL, the deposits are derived from Ig heavy chains and light chains. Both AH and AHL are extremely rare diseases. Here, we report an unusual presentation of IgG (lambda AHL amyloidosis in the background of multiple myeloma, where the initial clinical presentation was complete heart block, which preceded the definitive diagnosis by 18 months.

Verrucous Lichen Planus: A Rare Presentation of a Common Condition

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Audhya, Moutusi; Varughese, Jenny S.; Nakhwa, Yuti C.

2014-01-01

Lichen planus is a chronic papulosquamous dermatoses in which both skin and mucosae are involved. There are various morphological forms of lichen planus. Hypertrophic lichen planus is one of the rare clinical variants. Herein, we report a very unusual presentation of hypertrophic lichen planus. A similar presentation has not been reported in literature yet, to the best of our knowledge. PMID:25386324

Iris abscess a rare presentation of intravenous drug abuse associated Candida endophthalmitis

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Jonathan Pierce

2016-12-01

Conclusions and importance: An iris abscess is a rare clinical presentation of intravenous drug use-associated endogenous endophthalmitis and as a result may present a diagnostic challenge as it requires a high level of clinical suspicion and a detailed social history to elicit the drug abuse. Early diagnosis and aggressive therapy is the key to better visual outcomes in these patients.

Macrodystrophia Lipomatosa: A rare presentation | Kachewar ...

African Journals Online (AJOL)

Macrodystrophia lipomatosa is a rare congenital nonhereditary mesenchymal hamartomatous malformation resulting in localized gigantism of parts of extremities that manifests clinically as macrodactyly or megalodactyly. Radiological and Pathological hallmark is the disproportionate fibroadipose tissue proliferation in ...

A rare case of primary lymphoma of the caecum presenting as intussusception

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Leena Jayabackthan

2013-01-01

Full Text Available Mucosa associated lymphoid tissue (MALT lymphomas are rare neoplasms. They are most common in the stomach followed by small intestine and colon. The symptoms are nonspecific and generally do not present with intussusception. Here we report a rare clinical entity in which a 35-year-old female presented to the emergency with severe abdominal pain which was sudden in onset. History revealed that she had been having vague mild abdominal pain for 2 years. Ultrasonography showed ileocolic intussusception with hypoechoic lesion of 54 × 46 mm seen at the lead point. Emergency laparotomy with the right hemi-colectomy was done. The specimen was sent for histopathological examination which revealed a diagnosis of MALT lymphoma. Awareness of the varied clinical presentation helps in formulating the appropriate therapeutic strategy.

Primary Non-Hodgkin's lymphoma of the tongue: A rare presentation

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Lavanya Karanam

2016-01-01

Full Text Available The head and neck is the second most common region for extranodal lymphomas. The most common site is the Waldeyer's ring, and involvement of the base of tongue is extremely rare. We present a rare case of a young female with primary non-Hodgkin's lymphoma (NHL of the base of tongue. A 23-year-old female presented with a history of foreign body sensation in her throat for a month. Oral examination revealed a lobulated smooth mass at the base of tongue. Contrast-enhanced computed tomography neck shows polypoidal homogeneously enhancing soft tissue lesion in the base of tongue extending till the lateral pharyngeal wall. The biopsy of the lesion was reported as NHL. Hodgkin's lymphoma should be kept in the differential diagnosis of swelling arising from the base of tongue. We report a rare and varied presentation of extranodal lymphoma. A careful clinical evaluation supported by histopathological and radiologic investigations will help in identifying the disease at an early stage, resulting in a better prognosis.

A Rare Presentation of Extramedullary Hematopoiesis in Post-polycythemic Myelofibrosis.

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Konca Degertekin, Ceyla; Ozkurt, Zübeyde Nur; Akyürek, Nalan; Yağcı, Münci

2014-09-01

Polycythemia vera is a clonal proliferative disorder of the bone marrow that could possibly evolve into myelofibrosis in its natural course. Progression to myelofibrosis is usually a late stage complication and presents clinically with refractory cytopenias and extramedullary hematopoiesis (EMH). EMH can occur in any tissue during the course of post-polycythemic myelofibrosis. However, skin and cardiac involvements seems to be very rare. We present a 56-year-old woman with post-polycythemic myelofibrosis refractory to treatment, developing EMH after splenectomy in various organs, exceptionally the skin and the heart. Along with the case, the clinical presentations, treatment options, prognostic significance of EMH and the role of cytogenetics is discussed in the light of the literature.

A Rare Presentation of a Transethmoidal Encephalocele at Birth

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Anand Vishwanath Upasani

2014-10-01

Full Text Available Transethmoidal encephalocele is a very rare condition. Herein, we report the case of a neonate with a transethmoidal encephalocele, who presented with an externally visible intranasal mass at birth. Clinical suspicion of intracranial extension was confirmed by radiological imaging. A bifrontal craniotomy was done to divide the narrow communicating duct. The mass was delivered through the nostril and duraplasty was completed. The postoperative recovery was uneventful.

Stiff Person Syndrome: A Rare Neurological Disorder, Heterogeneous in Clinical Presentation and Not Easy to Treat

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Susanne Buechner

2015-01-01

Full Text Available Background. Stiff person syndrome (SPS is a rare neurological disorder characterized by progressive rigidity of axial and limb muscles associated with painful spasms. SPS can be classified into classic SPS, paraneoplastic SPS, and SPS variants. Its underlying pathogenesis is probably autoimmune, as in most cases antibodies against glutamic acid decarboxylase (GAD are observed. Similarly, paraneoplastic SPS is usually linked to anti-amphiphysin antibodies. Treatment is based on drugs enhancing gamma-aminobutyric acid (GABA transmission and immunomodulatory agents. Case Series. Patient 1 is a 45-year-old male affected by the classic SPS, Patient 2 is a 73-year-old male affected by paraneoplastic SPS, and Patient 3 is a 68-year-old male affected by the stiff limb syndrome, a SPS variant where symptoms are confined to the limbs. Symptoms, diagnostic findings, and clinical course were extremely variable in the three patients, and treatment was often unsatisfactory and not well tolerated, thus reducing patient compliance. Clinical manifestations also included some unusual features such as recurrent vomiting and progressive dysarthria. Conclusions. SPS is a rare disorder that causes significant disability. Because of its extensive clinical variability, a multitask and personalized treatment is indicated. A clearer understanding of uncommon clinical features and better-tolerated therapeutic strategies are still needed.

Nasopharyngeal bursitis: from embryology to clinical presentation

OpenAIRE

El-Shazly, Amr

2010-01-01

AE El-Shazly, S Barriat, PP LefebvreDepartment of Otorhinolaryngology and Head and Neck Surgery, Liege University Hospital, Liege, BelgiumAbstract: Nasopharyngeal bursitis is a relatively rare syndrome characterized by a collection of symptoms that multidisciplinary specialists should be aware of. Here we present an audit of cases presenting to a rhinology clinic over a two-year period, as well as an overview of the relevant embryology and different clinical presentations of nasopharyngeal bu...

A rare presentation of hydatid cyst

International Nuclear Information System (INIS)

Sabir, N.; Yildirim, B.; Alatas, E.; Cetin, B.

2005-01-01

Hydatid disease, although known to occur in most body areas, is extremely rare in the female reproductive system. There are different modes of presentation for the disease; however, we report and discuss a case presented with cystic vesicles passing through the vagina, which is considered as a rare presentation for secondary involvement of the uterus and both ovaries. We confirmed diagnosis with radiological examinations and serological tests. We operated on the patient, and studied the excised cysts microscopically. The gynecologist should be aware of hydatid cyst when vaginally passing a grape like vesicle is presented by the patient. (author)

A Rare Manifestation of Tuberculosis Presenting in the United States

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Osman Bhatty

2016-01-01

Full Text Available A 64-year-old Bangladeshi female presented to her primary care physician with a tender right breast lump that had been present for 4-5 days along with subjective fevers and malaise. Initial biopsy revealed granulomas, but Ziehl-Neelsen and Gram stain were negative for TB so antibiotics were prescribed for abscess until culture came positive for tuberculosis. She was started on triple therapy for extrapulmonary tuberculosis, an exceedingly rare presentation that requires high clinical suspicion in the Western world.

A Rare Presentation of Extramedullary Hematopoiesis in Post-polycythemic Myelofibrosis

OpenAIRE

Konca Degertekin, Ceyla; Özkurt, Zübeyde Nur; Akyürek, Nalan; Yağcı, Münci

2012-01-01

Polycythemia vera is a clonal proliferative disorder of the bone marrow that could possibly evolve into myelofibrosis in its natural course. Progression to myelofibrosis is usually a late stage complication and presents clinically with refractory cytopenias and extramedullary hematopoiesis (EMH). EMH can occur in any tissue during the course of post-polycythemic myelofibrosis. However, skin and cardiac involvements seems to be very rare. We present a 56-year-old woman with post-polycythemic m...

Macrodystrophia lipomatosa: a rare presentation

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Sushil G. Kachewar

2011-07-01

Full Text Available Macrodystrophia lipomatosa is a rare congenital nonhereditary mesenchymal hamartomatous malformation resulting in localized gigantism of parts of extremities that manifests clinically as macrodactyly or megalodactyly. Radiological and Pathological hallmark is the disproportionate fibroadipose tissue proliferation in subcutaneous tissue, nerve sheaths, and periosteum that leads to soft tissue and bony enlargement. As imaging is the key to early diagnosis, findings on various modalities like plain radiographs, CT scan and MRI are highlighted here.

A rare presentation of a transethmoidal encephalocele at birth.

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Upasani, Anand Vishwanath; Patel, Dhiren Nanjibhai; Chandna, Sudhir Bhisham

2014-10-01

Transethmoidal encephalocele is a very rare condition. Herein, we report the case of a neonate with a transethmoidal encephalocele, who presented with an externally visible intranasal mass at birth. Clinical suspicion of intracranial extension was confirmed by radiological imaging. A bifrontal craniotomy was done to divide the narrow communicating duct. The mass was delivered through the nostril and duraplasty was completed. The postoperative recovery was uneventful. Copyright © 2013. Published by Elsevier B.V.

Erythema multiforme like allergic contact dermatitis associated with laurel oil: a rare presentation.

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Uzuncakmak, Tugba Kevser; Karadag, Ayse Serap; Izol, Belcin; Akdeniz, Necmettin; Cobanoglu, Bengu; Taskin, Secil

2015-04-16

Allergic contact dermatitis is a common skin disease, which affects approximately 20% of the population. This reaction may present with several clinical manifestations. Erythema multiforme-like allergic contact dermatitis is a rare type of non-eczematous contact dermatitis, which may lead to difficulty in diagnosis.Essential oil of Laurus nobilis is widely used in massage therapy for antiinflammatory and analgesic effects. Laurus nobilis induced contact dermatitis has been reported in the literature but an erythema multiforme-like presentation is rare.

Spontaneous Perforation of Common Bile Duct: A Rare Presentation of Gall Stones Disease

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Duminda Subasinghe

2016-01-01

Full Text Available Background. Spontaneous perforation of the extrahepatic biliary system is a rare presentation of gall stones. Very few cases of bile duct perforation have been reported in adults. It is rarely suspected or correctly diagnosed preoperatively. Case Presentation. A 66-year-old female presented at the surgical emergency with 3 days’ history of severe upper abdominal pain with distension and repeated episodes of vomiting, as she had evidence of generalized peritonitis and underwent an exploratory laparotomy. A single 0.5 cm × 0.5 cm free perforation was present on the anterolateral surface of the common bile duct at the junction of cystic duct. A cholecystectomy and the CBD exploration were performed. Conclusion. Spontaneous perforation of the extrahepatic bile duct is a rare but important presentation of gall stones in adults. Therefore, awareness of the clinical presentation, expert ultrasound examination, and surgery are important aspects in the management.

Spontaneous acute subdural hematoma: A rare presentation of a dural intracranial fistula.

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de Aguiar, Guilherme Brasileiro; Veiga, José Carlos Esteves; Silva, João Miguel de Almeida; Conti, Mario Luiz Marques

2016-03-01

Dural arteriovenous fistulas are acquired lesions between the meningeal arteries and their associated draining veins. They may have highly variable clinical presentations and evolution, from severe neurological deficit to no or trivial symptoms. Intracranial hemorrhage occurs in less than 24% of all dural fistulas, and the bleeding is usually subarachnoid, more infrequently intracerebral, and rarely in the subdural space. Here, we present a rare case of a patient who presented with a subdural spontaneous hemorrhage. After investigation by cerebral angiography, the diagnosis of a dural arteriovenous fistula was made. The patient underwent uneventful endovascular treatment. As there are with only a few reports in the literature of such a presentation, we present this patient and perform a brief review of the literature. Copyright © 2015 Elsevier Ltd. All rights reserved.

Ascites in a Young Woman: A Rare Presentation of Eosinophilic Gastroenteritis

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Carina Santos

2018-01-01

Full Text Available Introduction. Eosinophilic gastroenteritis (EGE is a rare idiopathic disease that can affect one or more organs of the digestive tract. It has an estimated incidence of 1–20 cases per 100,000 patients. Klein et al. classified EGE into 3 subtypes: predominant mucosal, muscular, or subserosal. Clinical Case. We report a case of a 32-year-old woman, who presented with diffuse abdominal pain, nausea, postprandial infarction, diarrhea, and moderate ascites of three-week evolution. The rest of physical examination did not show alterations. The past medical history was unremarkable. Laboratory test results revealed peripheral blood eosinophilia. Abdominal CT scan revealed diffuse and concentric parietal thickening of the distal 2/3 of esophagus, moderate volume ascites, and small bowel wall thickening and distension on the left quadrants. The paracentesis revealed 93.3% of eosinophils. The colon biopsies evidenced an increase in the number of eosinophils. Secondary causes of eosinophilia were excluded. The patient was treated with oral prednisolone 40 mg/day with immediate clinical and analytical improvement. Conclusion. Eosinophilic gastroenteritis is a rare condition with a nonspecific and highly variable clinical presentation, which requires a high level of clinical suspicion. It is a diagnosis of exclusion. Secondary causes of eosinophilia such as intestinal tuberculosis, parasitosis, and malignant neoplasms should be excluded.

Neonatal hemophilia: a rare presentation

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Nuno Ferreira

2015-12-01

Full Text Available Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased factor VIII activity leads to increased risk of bleeding events. During neonatal period, diagnosis is made after post-partum bleeding complication or unexpected bleeding after medical procedures. Subgaleal hemorrhage during neonatal period is a rare, severe extracranial bleeding with high mortality and usually related to traumatic labor or coagulation disorders. Subgaleal hemorrhage complications result from massive bleeding. We present a neonate with unremarkable family history and uneventful pregnancy with a vaginal delivery with no instrumentation, presenting with severe subgaleal bleeding at 52 hours of life. Aggressive support measures were implemented and bleeding managed. The unexpected bleeding lead to a coagulation study and the diagnosis of severe hemophilia A. There were no known sequelae. This case shows a rare hemophilia presentation reflecting the importance of coagulation studies when faced with unexplained severe bleeding.

Amelogenesis imperfecta and localised aggressive periodontitis: A rare clinical entity

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Gayatri Gundannavar

2013-01-01

Full Text Available This case report presents two female patients whose chief complaint was discoloration of teeth. On careful clinical examination it was found that the patients had features of amelogenesis imperfecta and localised aggressive periodontitis. This article will give an insight of clinical and radiographic features of amelogenesis imperfecta with localised aggressive periodontitis, which is a rare clinical entity.

Late onset ‘en coup de sabre’ following trauma: Rare presentation of a rare disease

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Tasleem Arif

2015-01-01

Full Text Available En coup de sabre (linear scleroderma of face is a rare type of morphea (localized scleroderma involving frontoparietal area of the forehead and scalp. Many triggering factors have been implicated in the development of morphea like trauma, immobilization, bacille Calmette–Guérin (BCG vaccination, injections of vitamin K, mechanical compression from clothing, etc. Linear scleroderma primarily affects the pediatric population, with 67% of patients diagnosed before 18 years of age. In this article, we describe a case of 26 year old female who presented with a three months history of brownish indurated plaque of skin on the frontal and forehead regions of the head. The patient gave a history of trauma at the same site six years back. The diagnosis of morphea was made clinically supported by histopathological features of the skin biopsy. Her neurological examination was normal. ANA was negative. Brain MRI didn’t reveal any abnormality. She was treated with topical tacrolimus 0.1% ointment. The late onset en coup de sabre is a rare presentation and hence reported.

Tuberculous Dactylitis with Concomitant Thyroid Involvement: A Rare Presentation of Childhood Tuberculosis.

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Qamar, Sobia; Naz, Farrah; Naz, Samia; Ejaz, Iftikhar

2017-03-01

Extrapulmonary tuberculosis rarely presents as thyroid involvement along with other manifestations, and poses a diagnostic challenge on account of paucibacillary nature of disease. In general, the diagnosis of tuberculosis is based on epidemiological risk factors, clinical features, imaging studies, in addition to a positive skin testing or Interferon Gamma Release Assay (IGRA). A 14-year boy presented with history of fever and weight loss for one year. On examination, he had painful swelling of fingers and toes along with a painless thyroid nodule and squint. Hand X-ray showed lytic-sclerotic lesions in phalanges. MRI of brian showed multiple ring enhancing lesions and radionuclide thyroid scan showed multinodular goitre. Histology showed epithelioid cell granulomas (thyroid and bone) and tuberculomas of brain confirmed tuberculosis. He responded well to four-drug anti-tuberculous therapy and his fever, squint, thyroid nodule, and dactylitis disappeared. Tuberculosis of thyroid, a rare phenomenon, can be diagnosed and treated well; if clinical index of suspicion is kept high, particularly in tuberculosis prevalent areas.

A rare presentation of Klippel-Trenaunay syndrome

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Tanweer Karim

2014-01-01

Full Text Available The Klippel-Trenaunay syndrome (KTS is a congenital disorder characterized by capillary malformation, varicosities and bony and soft tissue hypertrophy. This disease has several morbidities like bleeding, deep venous thrombosis, embolic complications and in some cases enlargement of limb that may require amputation. Vascular malformations are segmented and never cross midline. However, we came across a case, a 45-year-old male, who presented with varicosity of veins and deformity of left lower limb besides cavernous hemangiomas (port-wine stains scattered all over his face, chest, back, gluteal region, groin and legs since birth. Multiple paravertebral soft tissue masses and bladder hypertrophy were also noted due to involving neurofibromatosis. Simultaneous occurrence of KTS and neurofibromatosis is rarely seen in clinical practice.

Xanthogranulomatous urethritis and cystitis: a rare clinical and pathological entity

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Lewkowicz Dorota

2015-09-01

Full Text Available Xanthogranulomatous inflammation of the urethra and the urinary bladder is a very rare pathological condition characterized by a chronic inflammatory infiltration composed mainly of foamy macrophages, with the presence of multinucleated giant cells. In a clinical examination, it can mimic urinary bladder carcinoma. This report presents the extremely rare case of a co-existing xanthogranulomatous urethritis and cystitis in a 64-year-old woman with recurrent dysuria, and with the suspicion of malignancy - as indicated on the basis of a cystoscopic examination. The standard treatment of this disorder is surgical resection, but in the presented case, only a diagnostic biopsy was performed. Because of the persistence of clinical symptoms, a cystoscopic examination and biopsy was repeated three times in a two year period. There was no malignancy seen in the repeated biopsies.

Mounier-Kuhn syndrome: radiological findings and clinical presentation

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Bastos, Andrea de Lima [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Unidade de Diagnostico por Imagem; Brito, Isabela Lage Alves, E-mail: andblima@yahoo.com.b [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Dept. de Pneumologia

2011-05-15

Mounier-Kuhn syndrome is a rare disease clinically characterized by recurrent respiratory infections. The present report describes a case of this disease with analysis of chest radiography and high resolution computed tomography showing increased caliber of the trachea, main bronchi and central bronchiectasis. Such changes, in association with clinical data, suggest the diagnosis. (author)

The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

OpenAIRE

Patel, Alpen B.; Hinni, Michael L.

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

The fourth branchial complex anomaly: a rare clinical entity.

Science.gov (United States)

Patel, Alpen B; Hinni, Michael L

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

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Alpen B. Patel

2011-01-01

Full Text Available Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

Oral malignant melanoma: a rare case with unusual clinical ...

African Journals Online (AJOL)

Primary Oral malignant melanoma is a rare tumor with an indigent prognosis. This is a case report of 47-year-old Sudanese female diagnosed as Oral malignant melanoma of the mandible with an unusual pattern of growth and clinical presentation. Furthermore, a possibility of intraosseous origin is suggested. Pan African ...

A rare presentation of methanol toxicity

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Nikhil Gupta

2013-01-01

Full Text Available Methanol is a highly toxic alcohol resembling ethanol in smell and taste. Methanol poisoning is a lethal form of poisoning that can cause severe metabolic acidosis, visual disturbances, and neurological deficit. Brain lesions typically described in methanol toxicity are in the form of hemorrhagic and non-hemorrhagic necrosis of the basal ganglia and sub-cortical white matter. To our knowledge, lesions in the parietal, temporal, or frontal areas of cerebrum and cerebellar hemispheres have been rarely reported so far. We herewith report this rare presentation.

Ewing Sarcoma/Primitive Neuroectodermal Tumor of the Kidney: Two Unusual Presentations of a Rare Tumor

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E. C. Castro

2012-01-01

Full Text Available Only few cases of primary renal Ewing's sarcoma have been reported in the literature to date. We present here two cases of renal ES/PNET with an uncanny presentation. The first case was discovered after the patient presented clinically with irradiating flank pain, mimicking the pain related with kidney stones. The second case had clinical presentation of pulmonary thromboembolism after the patient was involved in an automobilist accident. The tumors were mainly composed of small blue cells which by immunohistochemical were positive for neural markers, and FISH revealed the translocation 22q12 for the EWSR1 gene. The diagnosis of renal primitive neuroectodermal tumor/EWING tumor is very rare and usually involves several different diagnostic techniques. The differential diagnosis is usually broad with frequent overlapping features between the entities. The cases presented in this paper illustrated the difficulties with which routine anatomical pathologist is faced when dealing with rare renal poorly differentiated neoplasm in adults.

Meige's Syndrome: Rare Neurological Disorder Presenting as Conversion Disorder.

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Debadatta, Mohapatra; Mishra, Ajay K

2013-07-01

Meige's syndrome is a rare neurological syndrome characterized by oromandibular dystonia and blepharospasm. Its pathophysiology is not clearly determined. A 35-year-old female presented to psychiatric department with blepharospasm and oromandibular dystonia with clinical provisional diagnosis of psychiatric disorder (Conversion Disorder). After thorough physical examination including detailed neurological exam and psychiatric evaluation no formal medical or psychiatric diagnosis could be made. The other differential diagnoses of extra pyramidal symptom, tardive dyskinesia, conversion disorder, anxiety disorder were ruled out by formal diagnostic criteria. Consequently with suspicion of Meige's syndrome she was referred to the department of Neurology and the diagnosis was confirmed. Hence, Meige's syndrome could be misdiagnosed as a psychiatric disorder such as conversion disorder or anxiety disorder because clinical features of Meige's syndrome are highly variable and affected by psychological factors and also can be inhibited voluntarily to some extent.

Cryptococcoma mimicking a brain tumor in an immunocompetent patient: case report of an extremely rare presentation.

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Paiva, Aline Lariessy Campos; Aguiar, Guilherme Brasileiro de; Lovato, Renan Maximilian; Zanetti, Arthus Vilar Deolindo; Panagopoulos, Alexandros Theodoros; Veiga, José Carlos Esteves

2017-11-06

Central nervous system (CNS) infectious diseases have high prevalence in developing countries and their proper diagnosis and treatment are very important for public health planning. Cryptococcus neoformans is a fungus that may cause several CNS manifestations, especially in immunocompromised patients. Cryptococcal meningitis is the most common type of involvement. Mass-effect lesions are uncommon: they are described as cryptococcomas and their prevalence is even lower among immunocompetent patients. The aim here was to report an extremely rare case of cryptococcoma causing a mass effect and mimicking a brain tumor in an immunocompetent patient. The literature on CNS cryptococcal infections was reviewed with emphasis on cryptococcomas. Clinical, surgical and radiological data on a female patient with this rare presentation of cryptococcoma mimicking a brain tumor are described. A 54-year-old female patient presented to the emergency department with a rapid-onset progressive history of confusion and completely dependency for basic activities. Neuroimaging showed a left occipital lesion and neurosurgical treatment was proposed. From histopathological evaluation, a diagnosis of cryptococcoma was established. She received clinical support with antifungals, but despite optimal clinical treatment, her condition evolved to death. Cryptococcal infections have several forms of presentation and, in immunocompetent patients, their manifestation may be even more different. Cryptococcoma is an extremely rare presentation in which proper surgical and clinical treatment should be instituted as quickly as possible, but even so, there is a high mortality rate.

Research methods to change clinical practice for patients with rare cancers.

Science.gov (United States)

Billingham, Lucinda; Malottki, Kinga; Steven, Neil

2016-02-01

Rare cancers are a growing group as a result of reclassification of common cancers by molecular markers. There is therefore an increasing need to identify methods to assess interventions that are sufficiently robust to potentially affect clinical practice in this setting. Methods advocated for clinical trials in rare diseases are not necessarily applicable in rare cancers. This Series paper describes research methods that are relevant for rare cancers in relation to the range of incidence levels. Strategies that maximise recruitment, minimise sample size, or maximise the usefulness of the evidence could enable the application of conventional clinical trial design to rare cancer populations. Alternative designs that address specific challenges for rare cancers with the aim of potentially changing clinical practice include Bayesian designs, uncontrolled n-of-1 trials, and umbrella and basket trials. Pragmatic solutions must be sought to enable some level of evidence-based health care for patients with rare cancers. Copyright © 2016 Elsevier Ltd. All rights reserved.

Lymphangioma causing duodenal obstruction in adult, rare presentation

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Prashant W Khade

2016-01-01

Full Text Available A submucosal lymphangioma is a rare pathology in the alimentary tract. It is a benign entity of the lymphatic system. A duodenal lymphangioma is extremely rare and has an unknown etiology. Clinical and laboratory findings are nonspecific, and they are incidentally found by endoscopy and their treatment is surgical excision. Small lesions are often asymptomatic. Recently, the authors experienced a 62-year-old man, who had a duodenal lymphangioma, showing gastric outlet obstruction symptoms. A multidetector computed tomography abdomen study revealed a single submucosal cystic lesion in second part of duodenum. The lesion was successfully excised after Whipple′s procedure. Histopathology confirmed the diagnosis of lymphangioma.

Cerebral venous sinus thrombosis: A diagnostic challenge in a rare presentation

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Sultan AbdulWadoud Alshoabi

2017-01-01

Full Text Available Cerebral venous sinus thrombosis (CVST is an uncommon, life-threatening condition with a variable clinical presentation that makes it a challenge of diagnosis. A 39-year-old male patient presented to the hospital with complete loss of conscious and admitted to Medical Intensive Care Unit for investigation without any obvious history that was difficult for diagnosis. In this case, the patient presented with coma that is a rare presentation of CVST with no obvious clinical history and he was male patient that means he is free of all gender-specific risk factors of CVST. The brain computed tomography (CT scan showed hypodense lesion in the left upper parietal region with no hemorrhage. The lesion was low-signal intensity (SI on T1WIs and high SI on T2WIs and restricted on diffusion-weighted images like arterial infarctions, but magnetic resonance angiography (MRA was normal that excluded arterial infarction. Gadolinium-enhanced MR venography (MRV showed the filling defect of CVST. CVST can be present by a mysterious clinical presentation that makes it as a challenge of diagnosis even by medical imaging by CT and MR imaging (MRI. A combination of MRI and MRV is the best, noninvasive, and nonionizing imaging modality for the diagnosis of CVST.

Parathyroid carcinoma: an unusual presentation of a rare neoplasm

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Shruti, Sharma

2017-12-01

Full Text Available Parathyroid carcinoma is an extremely rare malignant endocrine neoplasm that is very challenging in its diagnosis as well as its treatment. Clinically the disease is detected earlier in patients who present with hyperparathyroidism with signs of profound hypercalcemia. Differentiation between benign and malignant disease of the parathyroid is challenging both for the clinician and for the pathologist. Complete surgical resection at the time of first operation offers the best chance of cure. Even after radical excision which is the standard management, local recurrence and metastases are frequent. The disease usually has a slow indolent course and most patients suffer from complications of hypercalcemia rather than tumor invasion or metastasis.We report a case of a 31-year-old woman who presented with renal colic. Various hematological, biochemical and radiological investigations were performed and a slightly enlarged right parathyroid was found. A clinical diagnosis of parathyroid adenoma was made and a right parathyroidectomy was done. Intraoperatively the surgeon had no suspicion of malignancy but microscopically the lesion was malignant and a final diagnosis of parathyroid carcinoma was rendered based on the criteria of invasion. Since there is no gold standard, a multidisciplinary approach, including the entire clinical, biochemical, radiological and pathological profile of the disease aids in an accurate diagnosis. Here we are reporting a case of a functional parathyroid carcinoma presenting in a relatively young patient with all the biochemical and radiological investigations and findings pointing towards a benign parathyroid disease.

Carcinoma caecum - a rare presentation

International Nuclear Information System (INIS)

Ali, T.; Mudasser, S.; Mudsser, S.; Sarwar, M.

2010-01-01

Caecal and right sided colonic cancers mostly present with fatigue, weakness and iron deficiency anemia. Such tumours rarely perforate posteriorly and involve the retroperitoneum. We report a case of an old Omani lady who came with insidious sign and symptoms of perforated caecum leading to retroperitoneal collection and necrotizing fasciitis of abdominal wall due to carcinoma of caecum. She underwent surgery but despite active intervention, she died because of septicemic shock. (author)

Urethral triplication with meatuses terminating on the penis: a rare case presenting with bifid urinary stream

Energy Technology Data Exchange (ETDEWEB)

Hirselj, Daniel A.; Jayanthi, Venkata R. [Nationwide Children' s Hospital, Department of Pediatric Urology, Columbus, OH (United States); Lowe, Gregory K. [The Ohio State University Medical Center, Department of Urology, Columbus, OH (United States)

2009-11-15

Urethral duplication is an uncommon clinical finding, and classification systems have been described to explain the clinical findings. Urethral triplication is an extremely uncommon diagnosis, with few published case reports. We present the rare case of an infant noted to have a bifid urinary stream and found to have urethral triplication on voiding cystourethrography. (orig.)

Urethral triplication with meatuses terminating on the penis: a rare case presenting with bifid urinary stream

International Nuclear Information System (INIS)

Hirselj, Daniel A.; Jayanthi, Venkata R.; Lowe, Gregory K.

2009-01-01

Urethral duplication is an uncommon clinical finding, and classification systems have been described to explain the clinical findings. Urethral triplication is an extremely uncommon diagnosis, with few published case reports. We present the rare case of an infant noted to have a bifid urinary stream and found to have urethral triplication on voiding cystourethrography. (orig.)

An Erupted Dilated Odontoma: A Rare Presentation

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Gaurav Sharma

2016-01-01

Full Text Available A dilated odontoma is an extremely rare developmental anomaly represented as a dilatation of the crown and root as a consequence of a deep, enamel-lined invagination and is considered a severe variant of dens invaginatus. An oval shape of the tooth lacking morphological characteristics of a crown or root implies that the invagination happened in the initial stages of morphodifferentiation. Spontaneous eruption of an odontoma is a rare occurrence and the occurrence of a dilated odontoma in a supernumerary tooth is even rarer with only a few case reports documented in the English literature. We present an extremely rare case of erupted dilated odontoma occurring in the supernumerary tooth in anterior maxillary region in an 18-year-old male, which, to the best of our knowledge, is the first ever case reported in English literature.

Reversible thyrotroph hyperplasia with hyperprolactinemia: A rare presenting manifestation of primary hypothyroidism

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Rajesh Rajput

2012-01-01

Full Text Available Pituitary thyrotroph hyperplasia with hyperprolactinemia has been described as a rare presentation of primary hypothyroidism. Premenopausal females with this disorder can present with features of hypothyroidism, menstrual disturbances, galactorrhea, and visual field defects because of enlarged pituitary. Here we describe a 32-year-old female presenting to her gynecologist primarily with galactorrhea and secondary amenorrhea. She was found to have raised serum prolactin, and MRI brain showed enlarged pituitary. She was referred for pituitary surgery when she came to us. Clinical examination and biochemistry were suggestive of primary hypothyroidism. She was prescribed levothyroxine replacement. At 6 weeks follow-up, serum prolactin came down to normal, galactorrhea subsided, and spontaneous menstrual cycles resumed. In 12 weeks, pituitary enlargement completely regressed and in another month after that, she conceived. Hence, primary hypothyroidism can present with thyrotroph hyperplasia, where correct diagnosis and levothyroxine therapy can prevent unnecessary pituitary surgery. Hyperprolactinemia in this setting is of no clinical significance.

A Rare Clinical Presentation of Giant Bilateral Labial Fibroepithelial Stromal Polyps in Patient with Psoriasis Disease

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Ayse Filiz Avsar

2016-01-01

Full Text Available Fibroepithelial polyps (FEPs are rarely seen lesions of the lower female genital tract with polypoid proliferations of stroma. These tumors usually present in the vulvovaginal region of the reproductive aged women. In this presentation, we report a case of a psoriatic woman who developed unusual multiple polypoid lesions approximately 15 cm in size arising from both left and right labia minora and unique connection of FEPs with psoriasis disease.

Clinical comparison of conventional and rare earth screen-film systems for cephalometric radiographs

International Nuclear Information System (INIS)

Kaugars, G.E.; Fatouros, P.

1982-01-01

This study compared cephalometric and P-A skull films taken with conventional (CaWO4) screens and rare earth screens. Patient exposure was reduced by 17 to 55 percent on two different x-ray machines by the use of rare earth screens. Results from 130 clinical evaluations showed that the diagnostic quality of radiographs taken with either system was roughly comparable. This presents a persuasive argument for the use of rare earth screens since the diagnostic quality of the films can be maintained while significantly reducing the patient's exposure to radiation

Herpes zoster oticus: A rare clinical entity

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Shailesh Gondivkar

2010-01-01

Full Text Available Herpes zoster oticus also known as Ramsay Hunt syndrome is a rare complication of herpes zoster in which reactivation of latent varicella zoster virus infection in the geniculate ganglion causes otalgia, auricular vesicles, and peripheral facial paralysis. Ramsay Hunt syndrome is rare in children and affects both sexes equally. Incidence and clinical severity increases when host immunity is compromised. Because these symptoms do not always present at the onset, this syndrome can be misdiagnosed. Although secondary to Bell′s palsy in terms of the cause of acute atraumatic peripheral facial paralysis, Ramsay Hunt syndrome, with incidence ranged from 0.3 to 18%, has a worse prognosis. Herpes zoster oticus accounts for about 12% cases of facial palsy, which is usually unilateral and complete and full recovery occurs in only about 20% of untreated patients. The most advisable method to treat Ramsay Hunt syndrome is the combination therapy with acyclovir and prednisone but still not promising, and several prerequisites are required for better results. We present a case of 32-year-old man suffering from Ramsay Hunt syndrome with grade V facial palsy treated effectively with rehabilitation program, after the termination of the combination therapy of acyclovir and prednisone.

A Rare Presentation of Odontogenic Keratocyst Mimicking an Antral Polyp

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Sudhakar, S; Geethika, V; Ramaswamy, P; Kumar, PK; Sreenivasulu, P

2014-01-01

Maxillary sinus harbours many pathological lesions. Many of those presents as a sinonasal mass and are rarely symptomatic. These masses are usually an antral polyp, mucoceles or mucous retention cysts. Odontogenic keratocyst, a benign odontogenic lesion presenting within the maxillary sinus is a rare entity. We present a case of odontogenic keratocyst of the maxillary sinus in a 35 years old female.

Nasopharyngeal bursitis: from embryology to clinical presentation

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AE El-Shazly

2010-10-01

Full Text Available AE El-Shazly, S Barriat, PP LefebvreDepartment of Otorhinolaryngology and Head and Neck Surgery, Liege University Hospital, Liege, BelgiumAbstract: Nasopharyngeal bursitis is a relatively rare syndrome characterized by a collection of symptoms that multidisciplinary specialists should be aware of. Here we present an audit of cases presenting to a rhinology clinic over a two-year period, as well as an overview of the relevant embryology and different clinical presentations of nasopharyngeal bursitis. For 2008–2009, six patients were diagnosed to have nasopharyngeal bursitis, including four males and two females, of mean age 54 years. Two distinct pathologic types were observed, comprising three patients with classical Tornwaldt’s cyst and three with crust-type bursitis. This audit highlights the importance of recognition of the crust-type of nasopharyngeal bursitis and its anatomic and clinical features. A combined endonasal and transoral endoscopic approach is a minimally invasive procedure and an effective method of treating both types of the disease. Our findings are discussed in relation to the embryology of the disorder, with a clinical emphasis on crust-type nasopharyngeal bursitis.Keywords: nasopharyngeal bursitis, crust type, Tornwaldt’s cyst, endoscopic disruption

A Rare Primary Pelvic Hydatid Cyst Presenting as Sciatica

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Praveen S Rathod

2012-04-01

Full Text Available Primary hydatid cyst in the pelvis is rare, and usually presents with pressure symptoms affecting the adjacent abdominal organs. We describe a rare hydatid cyst which was eroding the sacral hallow, protruding into the right sciatic foramen and presenting as a radiating pain and weakness of right lower limb due to compression of the lumbosacral nerve roots. Laparotomy with removal of cyst and postoperative treatment with albendazole is effective in controlling the disease and preventing recurrence.

A Rare Presentation of Odontogenic Keratocyst Mimicking an Antral Polyp

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S Sudhakar

2014-02-01

Full Text Available Maxillary sinus harbours many pathological lesions. Many of those presents as a sinonasal mass and are rarely symptomatic. These masses are usually an antral polyp, mucoceles or mucous retention cysts. Odontogenic keratocyst, a benign odontogenic lesion presenting within the maxillary sinus is a rare entity. We present a case of odontogenic keratocyst of the maxillary sinus in a 35 years old female.

Non-resolving pneumonia: A rare presentation of progressive disseminated histoplasmosis

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Supriya Sarkar

2014-01-01

Full Text Available Histoplasmosis, a fungal disease caused by Histoplasma capsulatum, is endemic in North and South America. Except few scattered cases, the disease is considered to be a non-entity in India. Furthermore, disseminated histoplasmosis is rare in the immunocompetent individuals. We report an adolescent boy presenting as middle lobe consolidation which did not respond to antibiotics. His condition deteriorated with the development of mediastinal lymphadenopathy, pleural effusion and hepatosplenomegaly. A diagnosis of progressive disseminated histoplasmosis was established by his clinical findings as well as bronchoscopic biopsy, transbronchial needle aspiration cytology and bronchoalveolar lavage culture demonstrating Histoplasma capsulatum. The case represents a unique example of progressive disseminated histoplasmosis in an immunocompetent individual in India.

Rare presentation of acute urinary retention secondary to herpes zoster.

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Ginsberg, P C; Harkaway, R C; Elisco, A J; Rosenthal, B D

1998-09-01

There are many causes of acute urinary retention. Reported here is a case of one of the more rare causes: herpes zoster. Fewer than 70 cases have been reported in the literature since 1890. In the present clinical environment where many patients are immunocompromised, reports of herpes zoster and its sequelae are no longer thought of as anecdotal. The virus may interrupt the detrusor reflex due to involvement of the sacral dorsal root ganglia. Urinary retention with sensory loss of both bladder and rectum as well as flaccid paralysis of the detrusor can develop in patients with herpes zoster. Fortunately, the outcome of this process is benign and full recovery of the detrusor is likely.

Pseudohypertension-Like Presentation: An Exceptionally Rare Presentation in an Athletic Female Patient with Morphea

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Ahmed Al-Imam

2016-01-01

Full Text Available Introduction. Pseudohypertension is a condition which mainly occurs due to thickening-calcification of tunica intima of the arterial wall, leading to a faulty measurement of the intra-arterial blood pressure. To the best of our knowledge, this is the first case report in literature, of a pseudohypertension-like presentation in association with Morphea en plaque. Case Presentation. This is a rare presentation of a young athletic female and a professional tennis player, with pseudohypertension-like presentation. The patient had a traumatic injury to the right elbow joint; the injury occurred during a professional tennis match. The injury was managed by immobilization, physiotherapy, and Low-Level Laser Therapy. Soon after that, the patient had a circumscribed sclerotic ivory plaque affecting the skin of the right cubital fossa. The histopathology analysis, together with the serological-hematological tests and the clinical picture, along with positive Osler’s signs, leads to the conclusive diagnosis of Morphea en plaque. The peculiar anatomic localization of the plaque anterior to the brachial artery leads to faulty blood pressure measurement as recorded by mercurial sphygmomanometer. Conclusion. This unique presentation of Morphea en plaque carries an important message in relation to the basic medical practice and in relation to the accurate measurement of the vital signs.

An Unusual Site of Adenomatoid Odontogenic Tumor Presenting as Periapical (Radicular Cyst: A Rare Case Report

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C Anand Kumar

2010-01-01

Here we are presenting a rare case report of an unusual site of extrafollicular adenomatoid odontogenic tumor in the mandible w.r.t 32, 33, 34 and 35 mimicking periapical disease clinical and radiographically. However, diagnosis of adenomatoid odontogenic tumor should be considered when the clinician is presented with a corticated radiolucency in the anterior lower jaw, especially in teens and young adults.

Rare Asymptomatic Presentation of Omental Mass from Cesarean ...

African Journals Online (AJOL)

A case of big oozing lump of unknown origin through a healed cesarean section stitchline, completely asymptomatic at presentation, origin discovered as omentum on exploratory laparotomy came on 10th postoperative day of an uneventful emergency surgery. This rare and silent presentation highlights the need to ...

Extranasopharyngeal angiofibroma: clinical and radiological presentation.

Science.gov (United States)

Szymańska, Anna; Szymański, Marcin; Morshed, Kamal; Czekajska-Chehab, Elżbieta; Szczerbo-Trojanowska, Małgorzata

2013-02-01

Nasopharyngeal angiofibroma (NA) is a rare, vascular tumor affecting adolescent males. Due to aggressive local growth, skull base location and risk of profound hemorrhage, NA is a challenge for surgeons. Angiofibromas have been sporadically described in extanasopharyngeal locations. We review ten cases of extranasopharyngeal angiofibroma (ENA) and discuss the incidence, clinical presentation and management of this pathology. The group consisted of 4 males and 5 females aged 8-49. There were 7 patients with nasal angiofibroma, 1 patient with laryngeal angiofibroma, 1 patient with oral angiofibroma and another patient with infratemporal fossa tumor. In patients with nasal angiofibroma most common presenting symptoms were nasal obstruction and epistaxis. Patients with laryngeal angiofibroma suffered from mild dysphagia and patients with the infratemporal fossa tumor had painless cheek swelling. In four patients with nasal tumor computed tomography (CT) demonstrated mass with strong to intermediate contrast enhancement. In one patient with nasal tumor carotid angiography demonstrated pathological vessels without intensive tumor blush. Infratemporal fossa tumor showed intensive contrast enhancement on CT and magnetic resonance imaging (MRI) scans, and abundant vascularity on angiography. Laryngeal and oral angiofibroma required no radiological imaging. Three nasal tumors were evaluated before introduction of CT to clinical practice. All patients underwent surgery. No recurrences developed. ENAs differ significantly from NAs regarding clinical and radiological presentations. They lack typical clinical and radiological features as they develop in all age groups and in females, may be less vascularised, arise from various sites and produce a variety of symptoms.

Rare presentation of a common disease: Idiopathic hypoparathyroidism presenting with extrapyramidal symptoms and status epilepticus

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Kaushik Ghosh

2012-01-01

Full Text Available We report of an 18-year-old male who presented with an epileptiform disorder, features of hypocalcemia, and an extrapyramidal symptom in the form of choreoathetosis. On evaluation he had idiopathic hypoparathyroidism with extensive calcifications in the extrapyramidal system of the brain; basal ganglion, as well as in the cerebral cortex and cerebellum, which is a rare entity. We report the rare presentation of a common disorder, which requires to be considered in evaluating hypoparathyroidism.

Perianal Ulcer and Diabetes Insipidus: A Rare Presentation of Langerhans Cell Histiocytosis in an Adult Male

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Ng Chong Beng

2017-07-01

Full Text Available Langerhans cell histiocytosis (LCH, previously known as Histiocystosis X, is a rare idiopathic disease caused by a build-up of langerhan cells in the body. LCH has a heterogenous form of clinical presentation and presents with varying degree of severity. The severity often depends on the disease burden. LCH can manifest as a unifocal disease, multifocal-unisystem or multifocal-multisystem disease with the latter being more fatal than the rest. Risk organ involvement confers a grim prognosis. Perianal lesions are extremely rare skin manifestation of LCH with only few cases reported in the past. Vinca-alkaloids and steroid therapy have been shown to be effective in a large percentage of those presenting with LCH. This case report highlights the diagnosis and management of LCH presenting as a painful perianal ulcer in the background of newly diagnosed diabetes insipidus.

Glial Heterotopia of the orbit: A rare presentation

Science.gov (United States)

2011-01-01

Background Glial heterotopias are rare, benign, congenital, midline, non-teratomatous extracranial glial tissue. They may masquerade as encephalocoele or dermoid cyst and mostly present in nose. Herein, we present an unusual case of glial heterotopia of the orbit with unilateral blindness. Case presentation A 6 year-old-boy presented with a progressive painless mass over the nose and medial aspect of the left eye noticed since birth. On examination, the globe was displaced laterally by a firm, regular, mobile, non-pulsatile and non-tender medial mass. The affected eye had profound loss of vision. Computed tomography scan showed a large hypodense mass in the extraconal space with no intracranial connectivity and bony erosion. The child underwent total surgical excision of the mass and histopathological examination confirmed glial heterotopia of the orbit. Conclusion Though the incidence of this condition is rare, the need of appropriate diagnosis and management of such mass to prevent the visual and cosmetic deterioration is warranted. To our knowledge this is the first reported case of Glial heterotopia of orbit causing unilateral blindness. PMID:22088230

Glial Heterotopia of the orbit: A rare presentation

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Sitaula Ranju

2011-11-01

Full Text Available Abstract Background Glial heterotopias are rare, benign, congenital, midline, non-teratomatous extracranial glial tissue. They may masquerade as encephalocoele or dermoid cyst and mostly present in nose. Herein, we present an unusual case of glial heterotopia of the orbit with unilateral blindness. Case presentation A 6 year-old-boy presented with a progressive painless mass over the nose and medial aspect of the left eye noticed since birth. On examination, the globe was displaced laterally by a firm, regular, mobile, non-pulsatile and non-tender medial mass. The affected eye had profound loss of vision. Computed tomography scan showed a large hypodense mass in the extraconal space with no intracranial connectivity and bony erosion. The child underwent total surgical excision of the mass and histopathological examination confirmed glial heterotopia of the orbit. Conclusion Though the incidence of this condition is rare, the need of appropriate diagnosis and management of such mass to prevent the visual and cosmetic deterioration is warranted. To our knowledge this is the first reported case of Glial heterotopia of orbit causing unilateral blindness.

Schwanomma From Cervical Sympathetic Chain Ganglion - A Rare Presentation.

Science.gov (United States)

Asma, A Affee; Kannah, E

2015-10-01

Schwanommas arising from cervical sympathetic chain are tumours that are rare in occurrence. These lesions are usually difficult to differentiate from a vagal schwanomma and a carotid body tumour during the initial workup. In this report, a rarely seen huge cervical sympathetic chain schwanomma case with partial Horner's syndrome is being presented in detail, which to our known knowledge, is one of the few cases reported in literature.

A Rare Cutaneous Adnexal Tumour with a Rare Presentation

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Vijayalaxmi S. Patil

2016-04-01

Full Text Available Proliferating Trichilemmal Tumour (PTT is a rapidly growing large cutaneous adnexal neoplasm. Although biologically considered as benign, it may be locally aggressive. Malignant transformation of these lesions, known as Malignant Proliferating Trichilemmal Tumour (MPTT has rarely been reported. So far in the literature, only 39 well-documented cases of MPTT have been reported. MPTT has been stated to be a neoplasm of the older age group according to review of the literature. We present a case of MPTT in a young male. A 25 year old male presented with a scalp swelling of 2 years duration with a recent rapid enlargement. The swelling was excised and histopathological examination of the excised specimen revealed features of MPTT. The differential diagnosis of MPTTis squamous cell carcinoma as both share common features. Accurate diagnosis of MPTT is essential since it has a tendency to metastasize and recur more frequently than squamous cell carcinoma.

Rare Presentation of Left Lower Lobe Pulmonary Artery Dissection

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René Hako

2017-01-01

Full Text Available Background. Pulmonary arterial dissection with chronic pulmonary arterial hypertension as its major cause is a very rare but life-threatening condition. In most cases the main pulmonary trunk is the affected site usually without involvement of its branches. Segmental or lobar pulmonary artery dissection is extremely rare. Case Presentation. We report a unique case of left lower lobe pulmonary artery dissection in a 70-year-old male, with confirmed chronic pulmonary hypertension. To confirm dissection MDCT pulmonary angiography was used. Multiplanar reformation (MPR images in sagittal, coronal, oblique sagittal, and curved projections were generated. This case report presents morphologic CT features of rare chronic left lobar pulmonary artery dissection associated with chronic pulmonary hypertension at a place of localised pulmonary artery calcification. CT pulmonary angiography excluded signs of thromboembolism and potential motion or flow artefacts. Conclusion. To the best of our knowledge, no case of lower lobe pulmonary artery dissection with flap calcification has been reported yet. CT imaging of the chest is a key diagnostic tool that is able to detect an intimal flap and a false lumen within the pulmonary arterial tree and is preferred in differential diagnosis of rare complications of sustained pulmonary arterial hypertension.

Psychomotor delay, a possible rare presentation of moyamoya disease

International Nuclear Information System (INIS)

Ashrafi, M. R.; Alizadeh, H.; Yazdani, Sh.; Mohseni, M.; Mohamadi, M.

2011-01-01

Moyamoya disease is a rare, chronic cerebrovascular occlusive disease of unknown etiology. It is characterized by progressive stenosis of the arteries of the circle of Willis leading to ischemic strokes in young people and cerebral hemorrhage, which is more frequent in adults. Secondarily, an abnormal network of fine collateral vessels arises at the base of the brain. The term moyamoya refers to the angiographic appearance of the cerebral vasculature. We present such a disease in an 18-month-old Iranian girl with global developmental delay, which is a very rare presentation of moyamoya disease. She was diagnosed by magnetic resonance imaging and magnetic resonance angiography.

An unusual clinical presentation of gingival melanoacanthoma

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S. P. K. Kennedy Babu

2013-01-01

Full Text Available Gingival melanoacanthoma is a rare, benign pigmented lesion characterized clinically by sudden onset and rapid growth of a macular brown black lesion and histologically by acanthosis of superficial epithelium and proliferation of dendritic melanocytes. This article reports a previously undescribed case of pigmented unilateral diffuse gingival enlargement, which on histopathological examination proved to be melanoacanthoma. Intraoral examination revealed pigmented unilateral diffuse gingival enlargement in relation to second and third quadrants buccally, palatally/lingually. Based on these clinical findings, gingivectomy was performed and the excised tissue was sent for biopsy. Microscopic examination revealed acanthotic and parakeratotic surface epithelium with dendritic melanocytes distributed in basal and suprabasal layers of the epithelium. 1 year follow-up recall revealed no recurrence of lesion at the surgical sites. Our patient exhibits an unusual clinical presentation of melanoacanthoma of gingiva. Pigmented gingival overgrowth of recent origin and without any etiologic factors warrants histopathologic examination.

Clinical presentation and staging of Hodgkin lymphoma

DEFF Research Database (Denmark)

Gallamini, Andrea; Hutchings, Martin; Ramadan, Safaa

2016-01-01

, sometimes HL is a subtle disease, difficult to diagnose for the paucity of symptoms, the absence of physical findings, or for concomitant immunologic disorders: a compete overview of the common and rare patterns of HL clinical presentation will be also offered. The future perspective of PET scan use......In the present chapter the authors present a brief overview of the diagnostic methods proposed over time for Hodgkin lymphoma (HL) spread detection, moving from surgical procedures, through standard radiological and functional imaging techniques to the present state of the art for HL staging...... tomography (FDG-PET) scan in the armamentarium of staging procedures will be presented and commented, with a special emphasis on the utility of special procedures, such as bone marrow trephine biopsy, which is deemed no longer needed in the PET era. While the HL diagnosis is straightforward in most cases...

Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report

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Al-Otaibi Faisal

2012-05-01

Full Text Available Abstract Introduction Medulloblastoma is one of the most common pediatric brain malignancies. The usual presenting clinical features are related to posterior fossa syndrome or/and hydrocephalus. Cauda equina syndrome is a very rare presentation for this disease. Case presentation We describe the case of a three-year-old boy with cauda equina syndrome as the initial presenting clinical feature for medulloblastoma. He was initially diagnosed as having a spinal tumor by magnetic resonance imaging scan. Subsequently, a cranial magnetic resonance imaging scan revealed a posterior fossa tumor with features of dissemination. He had substantial improvement after treatment. This case report is complemented by a literature review related to this unusual presentation. Conclusions Medulloblastoma primarily presenting with cauda equina syndrome is very rare. However, spinal drop metastasis should be considered in the pediatric age group to avoid suboptimal management.

Actinomycotic Osteomyelitis of Maxilla Presenting as Oroantral Fistula: A Rare Case Report

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Ashalata Gannepalli

2015-01-01

Full Text Available Actinomycosis is a chronic granulomatous infection caused by Actinomyces species which may involve only soft tissue or bone or the two together. Actinomycotic osteomyelitis of maxilla is relatively rare when compared to mandible. These are normal commensals and become pathogens when they gain entry into tissue layers and bone where they establish and maintain an anaerobic environment with extensive sclerosis and fibrosis. This infection spreads contiguously, frequently ignoring tissue planes and surrounding tissues or organ. The portal of entry may be pulpal, periodontal infection, and so forth which may lead to involvement of adjacent structures as pharynx, larynx, tonsils, and paranasal sinuses and has the propensity to damage extensively. Diagnosis is often delayed and is usually based on histopathology as they are cultured in fewer cases. The chronic clinical course without regional lymphadenopathy may be essential in diagnosis. The management of actinomycotic osteomyelitis is surgical debridement of necrotic tissue combined with antibiotics for 3–6 months. The primary actinomycosis arising within the maxilla with contiguous involvement of paranasal sinus with formation of oroantral fistula is rare. Hence, we present a 50-year-old female patient with chronic sclerosing osteomyelitis of maxilla which presented as oroantral fistula with suppurative and sclerotic features.

Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

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Ozyurt Abdullah

2015-06-01

Full Text Available Early onset Marfan Syndrome (eoMFS is a rare, severe form of Marfan Syndrome (MFS. The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

Synovial sarcoma: a rare presentation of parapharyngeal mass.

Science.gov (United States)

Shaariyah, Mohd Mokhtar; Mazita, Ami; Masaany, Mansor; Razif, Mohd Yunus; Isa, Mohamed Rose; Asma, Abdullah

2010-06-01

Synovial sarcoma is a rare soft tissue sarcoma of the head and neck region involving the parapharyngeal space. The diagnosis of synovial sarcoma can be very challenging to the pathologists. We present a rare case of parapharyngeal synovial sarcoma in a young female patient who had a two-month history of left cervical intumescent mass at level II. The fine needle aspiration cytology of the mass was proved inconclusive. Transcervical excision of the mass was performed and the first case of parapharyngeal sarcoma was identified in our center by fluorescence in situ hybridization (FISH) technique. Repeat imaging revealed residual tumor. The patient successfully underwent a second excision of the residual tumor and received adjuvant radiotherapy.

Urethral Leiomyoma: A Rare Clinical Entity

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Ng Beng Kwang

2016-01-01

Full Text Available Extrauterine leiomyomas are encountered occasionally, which can pose a diagnostic dilemma and challenge to the gynaecologist. We report a rare case of urethral leiomyoma. A 31-year-old woman with history of primary subfertility presented with mass at her urethral meatus and lower urinary tract symptoms. She underwent examination under anaesthesia and excision of the urethral mass. Histopathological examination confirmed leiomyoma. Diagnosis and management of this common growth situated at a rare location were reviewed and discussed.

Rare presentation of Kyrle′s disease in siblings

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Viswanathan Seethalakshmi

2008-01-01

Full Text Available Background: Kyrle′s disease is a rare variant of primary perforating dermatosis. Its occurrence in a familial setting, especially in children, is extremely uncommon. Similar appearing skin lesions have been described in adults, secondary to metabolic disorders, infective agents as well as exposure to chemicals. We present a rare case of this genodermatosis in two siblings. Materials and Methods: Two siblings of a non-consanguineous marriage came with generalized discrete papular lesions with a central keratotic plug. All biochemical and serological investigations were within normal limits. Serial sections of the biopsy revealed typical epidermal invaginations filled with parakeratotic debris and perforation into the dermis with accompanying granulomatous reaction. Results and Conclusions: A careful history, detailed routine investigations and serial sections of the skin biopsy are required to demonstrate the typical morphology and stages of evolution of Kyrle′s disease. This helps to differentiate the rare primary Kyrle′s disease from other primary and secondary keratotic lesions. Due to the familial occurrence, screening of relatives of an index case is recommended.

Clinical presentation and imaging of a rare case of Tarsal Tuberculosis.

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Kapetanakis, Stylianos; Chourmouzi, Danai; Papadopoulou, Elissavet; Oikonomou, Dimitrios; Gkantsinikoudis, Nikolaos

2018-02-01

A 43-year-old woman arrived to emergency unit of our hospital, referring intense deteriorated pain and swelling of midfoot. Rapid clinical evolvement of osteoarticular tuberculosis represents a potential clinical scenario. Clinicians should always include foot tuberculosis in differential diagnosis, in cases of severe clinical and radiological manifestations.

A systematic literature review of evidence-based clinical practice for rare diseases

DEFF Research Database (Denmark)

Rath, Ana; Salamon, Valérie; Peixoto, Sandra

2017-01-01

diseases comprise the difficulty to recruit participants because of rarity, scattering of patients, limited knowledge on natural history of diseases, difficulties to achieve accurate diagnosis and identify patients in health information systems, and difficulties choosing clinically relevant outcomes....... CONCLUSIONS: Evidence-based clinical practice for rare diseases should start by collecting clinical data in databases and registries; defining measurable patient-centred outcomes; and selecting appropriate study designs adapted to small study populations. Rare diseases constitute one of the most paradigmatic...

Hydrocephalus: a rare initial manifestation of sporadic intramedullary hemangioblastoma : Intramedullary hemangioblastoma presenting as hydrocephalus.

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Morais, Barbara Albuquerque; Cardeal, Daniel Dante; Ribeiro E Ribeiro, Renan; Frassetto, Fernando Pereira; Andrade, Fernanda Goncalves; Matushita, Hamilton; Teixeira, Manoel Jacobsen

2017-08-01

Intramedullary hemangioblastomas are rare benign vascular tumors, infrequent in pediatric patients. Clinical symptoms vary according to the age of presentation, tumor size, location, and concomitant syringomyelia. This is the second reported case of hemangioblastoma presenting with acute hydrocephalus. A 3-month-old infant with acute hydrocephalus was asymptomatic after a ventriculoperitoneal shunt was placed. She returned 3 months later with irritability, acute paraplegia, and respiratory distress. Magnetic resonance imaging (MRI) showed an intramedullary T8-T9 tumor with syringomyelia. She underwent surgical resection with good results during the 6-month follow-up. Intramedullary tumors may present as hydrocephalus and other nonspecific symptoms, with invariably delayed diagnosis in children, but must be considered in suspicious cases.

Congenital tracheoesophageal fistula: A rare and late presentation in adult patient

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Waseem M Hajjar

2012-01-01

Full Text Available Congenital H-type tracheoesophageal fistula (TEF in adults is a rare presentation and can test the diagnostic acumen of a surgeon, endoscopist, and the radiologist. These undetected fistulas may present as chronic lung disease of unknown origin because repeated aspirations can lead to recurrent lung infections and bronchiectasis. Congenital TEFs should be considered in the diagnosis of infants and young adults with recurrent respiratory distress and/or infections. Here, we present the successful management of this rare case in an adult patient.

Intrinsic brainstem schwannoma – A rare clinical entity and a histological enigma

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Anil Kumar Sharma

2016-01-01

Full Text Available Intraparenchymal schwannomas arising in the brainstem are very rare, and only eight cases have been reported in literature till now. We report an intraparenchymal brainstem schwannoma presenting with the classical clinical presentation of an intrinsic brainstem lesion, and discuss its clinicoradiological characteristics and histological origins. We highlight the importance of an intraoperative frozen section diagnosis in such cases. Intraoperative tissue diagnosis significantly may alter the surgical strategy, which should be aimed at near total intracapsular decompression of the schwannoma.

Rare primary headaches: clinical insights.

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Casucci, G; d'Onofrio, F; Torelli, P

2004-10-01

So-called "rare" headaches, whose prevalence rate is lower than 1% or is not known at all and have been reported in only a few dozen cases to date, constitute a very heterogeneous group. Those that are best characterised from the clinical point of view can be classified into forms with prominent autonomic features and forms with sparse or no autonomic features. Among the former are trigeminal autonomic cephalalgias (TACs) and hemicrania continua, while the latter comprise classical trigeminal neuralgia, hypnic headache, primary thunderclap headache, and exploding head syndrome. The major clinical discriminating factor for the differential diagnosis of TACs is the relationship between duration and frequency of attacks: the forms in which pain is shorter lived are those with the higher frequency of daily attacks. Other aspects to be considered are the time pattern of symptoms, intensity and timing of attacks, the patient's behaviour during the attacks, the presence of any triggering factors and of the refractory period after an induced attack, and response to therapy, especially with indomethacin. Often these are little known clinical entities, which are not easily detected in clinical practice. For some of them, e. g., thunderclap headache, it is always necessary to perform instrumental tests to exclude the presence of underlying organic diseases.

Longitudinal stress fracture of the femur: A rare presentation

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Bilreiro, Carlos; Bahia, Carla; Castro, Miguel Oliveira e

2016-01-01

We present the case of an 80 year old woman with hip pain, caused by a longitudinal femoral insufficiency stress fracture, depicted with radiographs, CT and MR. This type of fracture is very rare, with only a few cases reported. We conducted a literature review and compared the findings with the present case

Mucoepidermoid carcinoma ex pleomorphic adenoma of the lacrimal gland: A rare presentation

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Lily Daniel

2014-01-01

Full Text Available Carcinoma ex pleomorphic adenoma in lacrimal gland is a rare entity unlike its salivary gland counterpart. This rare tumor poses a diagnostic challenge to clinicians as pre-operative diagnosis is difficult and diagnosis is only by careful pathological assessment. We report this uncommon lesion in a 62-year-old lady, wherein the malignant component was mucoepidermoid carcinoma. The elderly patient remained clinically and radiologically free of the tumor for two years after complete excision of the tumor but computed tomography at the end of two and a half years showed a recurrent lesion in the region of the lacrimal gland. This makes long term follow up of patients with these rare lacrimal tumors imperative with a minimum period of at least five years.

The Patient Educator Presentation in Dental Education: Reinforcing the Importance of Learning About Rare Conditions.

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Edwards, Paul C; Graham, Jasmine; Oling, Rebecca; Frantz, Kate E

2016-05-01

The aim of this study was to determine whether a patient educator presentation (PEP) on pemphigus vulgaris would increase second-year dental students' awareness of the importance of learning about rare conditions and improve their retention of rare disease knowledge. The study involved students' subjective assessments of a PEP experience at two U.S. dental schools. In this mixed methods study, cross-sectional data were obtained by surveys and in-depth interviews. Questions focused on students' assessment of the messages acquired from the PEP and its likely impact on their future clinical care. At University 1, students completed paper surveys with open-ended questions and participated in a focus group. At University 2, students completed an online survey consisting of rating scale and open-ended questions. Responses to open-ended questions were categorized into themes. At University 1, 79 students (out of a possible 102; response rate 77.5%) completed the survey, and an additional ten students participated in a focus group. At University 2, 30 students (out of a possible 104; response rate 28.8%) completed the survey. At Universities 1 and 2, 88% and 100%, respectively, of respondents stated the PEP would influence their future clinical decision making. The vast majority of respondents (94% and 100% at University 1 and University 2, respectively) were of the opinion that the personal testimonial from a patient would help them recall information about pemphigus vulgaris in five years' time. Respondents from both universities commented that the PEP emphasized the importance of not dismissing a patient's concerns. These results suggest that a presentation by a patient with a rare condition can be an effective educational tool for preclinical dental students.

Pancoast syndrome: A rare presentation of non-Hodgkin′s lymphoma

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Anirban Sarkar

2013-01-01

Full Text Available Pancoast syndrome is a common presentation of bronchogenic carcinoma, but other malignancies are rarely cited as its cause. Pancoast syndrome due to non-Hodgkin′s lymphoma is rarely described in the literature. Here, we report a case of Pancoast syndrome due to non-Hodgkin′s lymphoma to increase the awareness of the clinicians regarding essentiality of tissue diagnosis of Pancoast tumor before starting the treatment.

Schwanomma From Cervical Sympathetic Chain Ganglion – A Rare Presentation

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Asma, A. Affee

2015-01-01

Schwanommas arising from cervical sympathetic chain are tumours that are rare in occurrence. These lesions are usually difficult to differentiate from a vagal schwanomma and a carotid body tumour during the initial workup. In this report, a rarely seen huge cervical sympathetic chain schwanomma case with partial Horner’s syndrome is being presented in detail, which to our known knowledge, is one of the few cases reported in literature. PMID:26557566

A rare case of Amyand’s hernia presenting as an enterocutaneous fistula

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L Flood

2010-09-01

Full Text Available The finding of the vermiform appendix in an inguinal hernia has an incidence of approximately 1%. The condition is given the eponymous name Amyand’s hernia. However in just 0.08% the condition is complicated by an acute appendicitis. The clinical presentation varies, depending on the extent of inflammation of the appendix and is most often misdiagnosed as an incarcerated inguinal hernia. As such it is rarely recognised prior to surgical exploration. We report a case of Amyand’s hernia in an 85 year old woman, which presented as a right groin enterocutaneous fistula. CT scanning illustrated a fistulous tract in the right groin, which communicated with the caecum and the peritoneal cavity. She underwent laparotomy, which revealed that the appendix appeared inflamed, lay in the inguinal canal and was the origin of the enterocutaneous communication.

Schwartz–jampel syndrome: Clinical and diagnostic phenotype of a rare genetic disorder

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Bhaskara P Shelley

2016-01-01

Full Text Available The distinctive phenotypic, clinical, skeletal characteristics with the typical electrophysiological features of an 11-year-old male child who presented to the neurology outpatient service are described, with the objective of emphasizing the diagnostic awareness of chondrodystrophic myotonia or Schwartz–Jampel syndrome, a very rare genetic disorder. This autosomal recessive disorder due to mutations in the gene Perlecan leads to abnormal cartilage development and anomalous neuromuscular activity.

 Papillary Cystadenocarcinoma of Ovary Presenting as Obstructive Jaundice: A Rare Presentation

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Sunil Kumar

2012-03-01

Full Text Available  Obstructive jaundice resulting from malignancy of gastrointestinal tract and hepatobiliary tract has been reported in various studies. Ovarian malignancy leading to obstructive jaundice due to portal lymphadenopathy is of rare occurrence. We report a case presented with obstructive jaundice and on further evaluation, found to have ovarian papillary cyst adenocarcinoma with secondaries at porta hepatis which was managed successfully by neoadjuvant chemotherapy followed by cytoreductive surgery.

Osteolytic bone lesions – A rare presentation of AML M6.

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Geetha N.

2015-02-01

Full Text Available Acute myeloid leukemia (AML M6 is a rare form of AML  accounting  for < 5 % of all AML.  Extramedullary involvement  is very rarely seen in this entity.  Skeletal lesion has not been described in AML M6 before. We discuss the case of  a 17 year old boy with AML M6 who presented with  osteolytic lesion of right humerus.  He was treated with  induction and consolidation chemotherapy. The present case is the first report in literature of AML M6 presenting with skeletal lesions.

Extraskeletal myxoid chondrosarcoma presenting as an intradural spinal mass: report of a rare clinical presentation with an emphasis on differential diagnostic considerations

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Priya Rao

2014-12-01

Full Text Available Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm that occurs predominantly in the soft tissues of the lower extremities. Herein we present a case of a 29 year old male who presented with bilateral femoral numbness believed to be the result of prior injury to his back. A magnetic resonance imaging revealed a mass in the T4-T5 epidural space compressing the spinal cord. Laminectomy was performed and the lesion removed piecemeal. The pathology specimen consisted of multiple fragments of dura involved by a myxoid neoplasm with a nodular growth pattern. The tumor cells were arranged in anastomosing cords and strands. Individual tumor cells were small, of uniform size and shape, with small hyperchromatic nuclei and scant eosinophilic cytoplasm. Immunohistochemical stains were performed which showed the tumor cells were diffusely positive for vimentin and focally positive for EMA, S-100 protein and cytokeratin, whereas they were negative for CD34 and CD99. Fluorescence in situ hybridization (FISH studies showed a clonal population of cells with re-arrangement of the EWSR1 locus, confirming the histologic impression of extraskeletal myxoid chondrosarcoma. This is the first report of a case of an extraskeletal myxoid chondrosarcoma arising from the dura, confirmed to have rearrangement of the EWSR1 gene by FISH. There have only been two other cases of dural based extraskeletal myxoid chondrosarcoma reported prior to our case. We also briefly review the published literature and discuss differential diagnostic considerations for this rare tumor.

Chronic meningococcemia: a rare presentation of meningococcal disease: case report

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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.

Canavan disease - unusual imaging features in a child with mild clinical presentation

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Nguyen, Ho V.; Ishak, Gisele E.

2015-01-01

Canavan disease is a rare hereditary leukodystrophy that manifests in early childhood. Associated with rapidly progressive clinical deterioration, it usually results in death by the third year of life. The predominant MRI appearance is diffuse and symmetrical white matter disease. We discuss an atypical, late presentation of Canavan disease with a benign clinical course and uncharacteristic imaging features. This case introduces a previously unreported pattern of diffuse cortical abnormality without significant white matter involvement. (orig.)

Canavan disease - unusual imaging features in a child with mild clinical presentation

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Nguyen, Ho V.; Ishak, Gisele E. [University of Washington, Department of Radiology, Seattle Children' s Hospital, Seattle, WA (United States)

2015-03-01

Canavan disease is a rare hereditary leukodystrophy that manifests in early childhood. Associated with rapidly progressive clinical deterioration, it usually results in death by the third year of life. The predominant MRI appearance is diffuse and symmetrical white matter disease. We discuss an atypical, late presentation of Canavan disease with a benign clinical course and uncharacteristic imaging features. This case introduces a previously unreported pattern of diffuse cortical abnormality without significant white matter involvement. (orig.)

Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

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Lin Da Aw

Full Text Available ABSTRACT Main findings: A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinary team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management.

Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management.

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Da Aw, Lin; Zain, Murizah M; Esteves, Sandro C; Humaidan, Peter

2016-01-01

A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinar team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management. Copyright® by the International Brazilian Journal of Urology.

Toxoplasmosis of spinal cord in acquired immunodeficiency syndrome patient presenting as paraparesis: A rare entity

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Sachin R Agrawal

2014-01-01

Full Text Available Although brain has been the most common site for toxoplasma infection in acquired immunodeficiency syndrome patients, involvement of spinal cord by toxoplasma has been rarely found. Spinal cord toxoplasmosis can present as acute onset weakness in both lower limbs associated with sensory and bladder dysfunction. A presumptive diagnosis can be made in patients with CD4 count <100/mm 3 based on a positive serum Toxoplasma gondii IgG antibodies, no recent prophylaxis against toxoplasmosis, intramedullary ring enhancing lesion in spinal cord supported by similar lesions in brain parenchyma. Institutions of antitoxoplasma treatment in such patients result in prompt clinical response and therefore avoiding the need of unnecessary invasive diagnostic tests. Here, we report a case of toxoplasmic myelitis in immunocompromised patient presenting as myelopathy who showed significant clinical improvement after starting antitoxoplasma treatment. Hence toxoplasmic myelitis should be considered in toxoplasma seropositive immunocompromised patients presenting as myelopathy and imaging studies showing ring enhancing intramedullary lesion.

Mozart Ear Deformity: a Rare Diagnosis in the Ear Reconstruction Clinic.

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Telich-Tarriba, Jose E; Victor-Baldin, Andre; Apellaniz-Campo, Armando

2017-07-01

Mozart ear is a rare auricular deformity; clinically the auricle is characterized by the bulging appearance of the anterosuperior portion of the auricle due to fusion of the crura of the antihelix, an inversion in the normal form of the cavum conchae resulting in its convexity and a slit-like narrowing of the orifice of the external auditory meatus.A retrospective review of clinical and photographic records of patients attended at the ear reconstruction clinic of our hospital between June of 2010 and May 2016 was performed; out of 576 consecutive patients only 3 fulfilled the inclusion criteria, with a prevalence of 0.5%. The authors present these patients.Surgical interventions mainly focus on the correction of the convex concha; however, the procedure should be tailored to the severity of the deformity and the wishes of the patient.

Skull Base Langerhans Cell Histiocytosis with Diabetes Insipidus and Panhypopituitarism- A Rare Clinical Entity

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Anirban Ghosh

2017-12-01

Case Report A 16 year old male presented with diminished vision, bilateral ptosis, left sided lateral rectus palsy, hypoesthesia of trigeminal nerve with nasal obstruction for last 5 months. There was polypoidal, bleeding mass in both nasal cavities. Contrast enhanced CT Scan showed a large homogenous mass arising from sphenoid extending into cavernous sinus and the suprasellar region. Endoscopic nasal biopsy revealed abundant Langerhans cell histiocytes, macrophages, neutrophils. Chemotherapy and radiotherapy were administered. But within 2 months the patient presented with Cushingoid features and further diminution of vision. Detailed work-up revealed Hypogonadotrophic hypogonadism and diabetes insipidus. Debulking of the tumour was done and left optic nerve decompression was done. PET scan was performed and showed large, well defined mass with increased FDG uptake in the skull base with suprasellar extension, reaching upto petrous temporal bone and causing bony erosion of ethmoid and sphenoid sinuses. Patient was then advised adjuvant chemotherapy.   Discussion Langerhans cell histiocytosis is a rare group of disorders characterised by abnormal clonal proliferation and accumulation of abnormal dendritic cells. Involvement of base of skull is even rarer. Though diabetes insipidus has been reported in Langerhans cell histiocytosis involving pituitary, panhypopituitarism is rare. These combinations of extensive Langerhans cell histiocytosis of base skull with clinical features of Diabetes insipidus and panhypopituitarism makes this case a rare clinical entity.

A Rare Case Presentation of a Perforated Giant Sigmoid Diverticulum

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Jennifer C. Kam

2013-01-01

Full Text Available Giant sigmoid diverticulum (GSD is a rare complication of diverticulosis. These lesions arise from herniations of the mucosa through the muscle wall which progressively enlarge with colonic gas to become large air-filled cysts evident on plain X-ray and CT scans. We present a rare case of a 72-year-old female presenting with abdominal distention, abdominal tenderness, and fever who developed a type 1 giant sigmoid diverticulum (pseudodiverticulum that subsequently formed an intra-abdominal abscess and an accompanying type 2 diverticulum as well. The patient was treated with surgical resection of the diverticulum with a primary anastomosis and abscess drainage. The patient’s postoperative course was uneventful. This case helps to support the need for the consideration of GSD in patients aged 60 and older with a history of diverticulosis and presenting with abdominal discomfort and distension.

Metastatic Choriocarcinoma Following Live Birth – A Rare Presentation

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Joya Sree Roy

2011-09-01

Full Text Available Choriocarcinoma is the most malignant tumor of gestational trophoblastic neoplasia. Post-partum choriocarcinoma is an infrequent event with poor prognosis. The diagnosis is usually delayed due to failure to recognize the mode of presentation of this disease. Being a rare occurrence, limited data is available regarding its clinical features. We present a 24 years old women with parity one delivered by caesarean section indicated for premature rupture of membrane with fetal distress at 39 wks of pregnancy. Frequent episodes of heavy vaginal bleeding had started 28 days following C/S. For this, she had H/O uterine evacuatin twice within 5 days interval. Biopsy report of second curettage showed choriocarcinoma. On admission to Dhaka Medical College Hospital (DMCH, the pretreatment Human Chorionic Gonadotrophin (βhCG level was >200000.0 IU/L, uterine mass of about 18 wks pregnancy size & X-Ray chest showed segmental consolidation in left mid zone of lung. After consultation with oncologist Etoposide, Methotrexate, Dactinomycin, Cyclophosphamide & Vincristine (EMACO therapy was started but before completion of her proposed cycles, she developed a live threatening condition which was managed very urgently and meticulously. Now the patient is under regular monitoring. Key words: GTD; Choriocarcinoma DOI: http://dx.doi.org/10.3329/bsmmuj.v4i2.8642 BSMMU J 2011; 4(2:116-118

A rare case of cervical epidural extramedullary plasmacytoma presenting with monoparesis

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Turk Okan

2017-03-01

Full Text Available Multiple myeloma and other plasma cell disorders are characterized by production of a large number of plasma cells in the bone marrow. On the other hand, plasmacytoma results from proliferation of abnormal plasma cells in the soft tissue or skeletal system. Neurological complications are frequently observed in these diseases. The most commonly known complications among those complications are spine fractures, spinal cord compressions, and peripheral neuropathies. Although neurological involvements are common in plasmacytomas, extramedullary spinal epidural localizations have been reported very rarely. In this case report, we aimed to present a plasmacytoma case that presented with acute onset of upper extremity monoparesis. A 40-year-old woman was admitted to our clinic with complaints of sudden weakness and numbness in her left arm following neck and left arm pain. Emergency cervical magnetic resonance imaging (MRI revealed an epidural mass and the patient underwent emergency surgery. The patient showed improvement post-operatively and the pathology was reported as plasmacytoma. Following hematology consultation, systemic chemotherapy was initiated and radiotherapy was planned after wound healing.

Spontaneous Pneumomediastinum with a Rare Presentation

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Ehsan Bolvardi

2014-01-01

Full Text Available Spontaneous pneumomediastinum is an unusual and benign condition in which air is present in mediastinum. A 20-year-old male patient presented to ED with complaint of hoarseness and odynophagia from the day before, after weightlifting. The patient was nonsmoker and denied history of other diseases. On physical examination he had no dyspnea with normal vital signs. Throat examination and pulmonary auscultation were normal and no crepitation was palpable. We could not find subcutaneous emphysema in neck and chest examination. In neck and chest X-ray we found that air is present around the trachea. There was no apparent pneumothorax in CXR. In cervical and chest CT free air was present around trachea and in mediastinum. Subcutaneous emphysema was also evident. But there was no pneumothorax. The patient was admitted and went under close observation, oxygen therapy, and analgesic. The pneumomediastinum and subcutaneous emphysema gradually resolved within a week by conservative therapy and he was discharged without any complication. Many different conditions could be trigged because of pneumomediastinum but it is rarely seen in intense physical exertion such as weightlifting and bodybuilding. Two most common symptoms are retrosternal chest pain and dyspnea. But the patient here complained of hoarseness and odynophagia.

Typhoid Fever Presenting With Acute Renal Failure And Hepatitis Simultaneously - A Rare Presentation

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Rajput R.

2016-05-01

Full Text Available Typhoid fever is an important health problem worldwide but its incidence is more in developing countries. Hepatic involvement is common, but both hepatic and renal involvement is rare in typhoid fever. We report a case of typhoid fever presenting with hepatitis and acute renal failure. A 17 year old male presenting with fever and pain abdomen was found to have raised blood urea, creatinine, liver enzymes and bilirubin. Widal and typhidot (IgM,IgG test were positive. His symptoms subsided and deranged parameters resolved with treatment of typhoid fever.

Breast abscess as the initial manifestation of primary pure squamous cell carcinoma: a rare presentation and literature review.

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Salemis, Nikolaos S

2011-01-01

Primary squamous cell carcinoma of the breast is a very rare tumor accounting for less than 0.4% of all breast cancers. Fewer than 100 cases have been reported in the literature so far. The diagnosis requires strict pathologic criteria to be fulfilled. Due to the rarity of this tumor the optimal treatment and prognosis are both unclear. Breast abscess as the initial presentation of a primary squamous cell breast carcinoma is an extremely rare clinical entity. In this study, we describe a case of a 61-year-old postmenopausal woman who presented with typical manifestations of a breast abscess and was diagnosed with a pure primary squamous cell breast carcinoma. Diagnostic evaluation and management of the patient are discussed along with a review of the literature. Despite its rarity, the possibility of a primary pure squamous cell breast carcinoma should always be considered in the differential diagnosis in postmenopausal patients presenting with manifestations of a breast abscess, especially in those who respond poorly to the initial treatment. Physicians should be aware of this rare malignancy in order to avoid delays in diagnosis and treatment.

Idiopathic granulomatous mastitis; Clinical presentation, radiological features and treatmant

International Nuclear Information System (INIS)

Aldaqal, Saleh M.

2004-01-01

To determine the clinical characteristic, clinical presentations and radiological features of diopathic granulomatous mastitis, and the best treatment approaches of this clinical entity. Between 1996 and 2003 the files and histopathology reports of 25 patients with granulomatous mastitis at King Abdul-Aziz University Hospital Jeddah, Kindom of Saudi Arabia were reviewed. The data were analyzed and a Medline search was carried out from 1970 to 2003 to review relevant cases. The age of patients ranged from 24-66 years and the mean age was 36.6+-9.43 years. All patients were females. The most common clinical presentation was palpable tender mass. The most common mammographic finding was ill-defined mass. However, mixed hypo- and hyper-echogenic lesions with tubular connections were the common ultrasonic findings. Treatment approaches were conservative or surgical excision or steroid. Conservative treatment associated with the higher rate of complications, while treatment with steroid showed complete remission of disease. Idiopathic granulomatous mastitis is a rare, benign breast disease that is usually underestimated or misdiagnosed. The clinical and radiological features resemble those of infectious mastitis or breast carcinoma. Early recognition and initiation of steroid treatment will result in complete remission of the disease and prevent complications. (author)

Primitive neuroectodermal tumor presenting as a presacral mass: A rare case report with review of literature

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Pradnya S Bhadarge

2017-01-01

Full Text Available Primitive neuroectodermal tumors (PNETs are a group of highly malignant small round cell tumor (SRCT of neuroectodermal origin. They exhibit a great diversity in their clinical manifestations and pathologic similarities with other SRCTs. PNET commonly occurs in the central nervous system, head and neck region, paravertebral region, pelvis, and lower extremities. PNET presenting as a presacral mass is very rare. We present a case of 65-year-old female patient presented with a mass in the abdomen. Exploratory laparotomy with excision of mass was carried out. Histopathology revealed the diagnosis of PNET. The rarity of PNET at presacral region prompted the description of this case.

Thyroid Autoantibodies and the Clinical Presentation of Moyamoya Disease: A Prospective Study.

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Lanterna, Luigi A; Galliani, Silvia; Zangari, Rosalia; Conti, Luciano; Brembilla, Carlo; Gritti, Paolo; Colleoni, Maria Luisa; Bernucci, Claudio

2018-05-01

Moyamoya is a rare cerebrovascular disease characterized by the progressive occlusion of the intracranial carotid artery. Thyroid autoantibodies have been found to be associated with the disease, but their clinical significance has never been studied. The objective of this study was to investigate the relationship between thyroid autoantibodies and the clinical presentation of moyamoya. This is a prospective study including 37 patients with moyamoya disease (MMD) or unilateral moyamoya (uMM). Thyroid function and thyroid autoantibodies (e.g., antithyroperoxidase and antithyroglobulin) were investigated. We studied the effect of gender, age, type of moyamoya (uMM versus MMD), and thyroid autoantibodies on the clinical presentation, dichotomized into aggressive (hemorrhage, major stroke, or frequent transient ischemic attack [TIA]) and nonaggressive presentation (headache, rare TIAs, and incidental diagnosis) according to the criteria of the Research Committee on Spontaneous Occlusion of the Circle of Willis. Of the 37 patients included in the study, the autoantibodies were elevated in 9 (24.3%). An aggressive presentation occurred in 21 patients (hemorrhage in 11, major stroke in 9, frequent TIAs in 1). The autoantibodies were elevated in 8 of the 21 patients (38.09%) with an aggressive presentation and in 1 of those presenting with minor symptoms (6.2%). The presence of elevated autoantibodies was the only variable associated with an aggressive presentation in the multivariate logistic analysis (P = .048). When the serum concentration of the thyroid autoantibodies is increased, the patients have a higher risk of an aggressive presentation. Our results support the hypothesis that activation of immune-mediated processes affects the moyamoya physiopathology. Copyright © 2018 National Stroke Association. Published by Elsevier Inc. All rights reserved.

Microscopic haematuria: A rare presentation of typhoid fever.

Science.gov (United States)

Nisahan, Balasingam; Thirunavukarasu, Kumanan; Selvaratnam, Gowry

2015-04-01

Typhoid fever can cause a number of renal manifestations heretofore dubbed 'nephrotyphoid'. Haematuria in the absence of renal impairment is extremely rare among typhoid patients. We report a case of an adult who presented with a prolonged febrile illness and microscopic haematuria. Blood culture confirmed the diagnosis of typhoid and the patient was treated successfully with ceftriaxone. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Complete eventration of right hemidiaphragm: A rare presentation

Directory of Open Access Journals (Sweden)

Krushna Makwana

2017-01-01

Full Text Available Eventration of the diaphragm is a term used to describe an abnormal elevation of part or whole of the hemidiaphragm, where the whole or part of the diaphragm is made up of a thin fibro membranous sheet replacing normal diaphragmatic musculature. Complete and partial eventration both can occur, however, complete eventration of the right hemidiaphragm in an adult female, as presented in this patient, is rarely seen.

The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice.

Science.gov (United States)

Nguyen, M T; Charlebois, K

2015-10-01

Whole-exome sequencing (WES) carries the potential to facilitate the identification of disease causing genes. This is particularly relevant concerning rare diseases, which proves particularly difficult for physicians to diagnose. However, the complexity of this technology renders its applicability onto the clinical setting uncertain. Our study thus aims to understand physicians' perspectives regarding the clinical utility of WES, particularly for providing a diagnosis for patients with rare diseases. Ten semi-structured interviews were conducted with physicians with experience and familiarity with WES, and the major themes that emerged from our interviews were (i) the relevance of WES in diagnosing patients with rare diseases (appropriateness); (ii) the cost-effectiveness of WES (accessibility), (iii) the practical issues related to the clinical implementation of WES (practicability); and (iv) ethical, legal and social issues (acceptability). Our study highlights how the clinical implementation of WES presents additional challenges where rare diseases are taken into consideration. © 2014 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Challenges of developing and conducting clinical trials in rare disorders.

Science.gov (United States)

Kempf, Lucas; Goldsmith, Jonathan C; Temple, Robert

2018-04-01

Rare disease drug development is a rapidly expanding field. Clinical researchers in rare diseases face many challenges when conducting trials in small populations. Disease natural history is often poorly understood and the ability to detect clinically meaningful outcomes requires understanding of their rate of occurrence and variability, both of which contribute to difficulties in powering a study. Standard trial designs are not optimized to obtain adequate safety and efficacy data from small numbers of patients, so alternative designs (enrichment, crossover, adaptive, N-of 1) need to be considered. The affected patients can be hard to identify, especially early in the course of their disease, are generally geographically dispersed, and are often children. Trials are frequently conducted on an international scale and may be subject to complex or multiple regulatory agency oversights and may be affected by local customs, cultures, and practices. A basic understanding of the FDA programs supporting development of drugs for rare diseases is provided by this review and the role of early consultation with the FDA is emphasized. Of recent FDA New Molecular Entities (NME) approvals, 41% (17 approvals) in 2014, 47% (21 approvals) in 2015, and 41% (9 approvals) in 2016 were for rare disease indications. Through effective interactions and collaborations with physicians, institutions, and patient groups, sponsors have been successful in bringing new treatments to market for individuals affected by rare diseases. Challenges to drug development have been overcome through the focused efforts of patients/families, non-profit patient advocacy groups, drug developers, and regulatory authorities. © 2017 Wiley Periodicals, Inc.

Bilateral Supernumerary Kidney: A Very Rare Presentation

International Nuclear Information System (INIS)

Keskin, Suat; Batur, Abdussamet; Keskin, Zeynep; Koc, Abdulkadir; Firat Ozcan, Irfan

2014-01-01

To our knowledge, bilateral supernumerary kidney is a very rare renal abnormality and there are five cases presented in the literature. It is difficult to diagnose supernumerary kidney and clinicians have not detected most cases preoperatively. Laboratory and imaging studies were acquired and carefully examined. The normal laboratory tests were found. Emergency ultrasonography was performed and they revealed no signs of parenchymal abnormality in both kidneys. Serial imaging study including enhanced computed tomography (CT) was performed. An imaging study identified bilateral supernumerary kidney with expanded collecting systems. On each side, significant rotation anomaly was found. In addition, there were two different renal arteries originating from the aorta. This report presents radiological determinations of supernumerary kidney bilaterally in a young man. We think that CT commonly appears to be enough for the diagnosis of supernumerary kidneys

Isolated single coronary artery (RII-B type presenting as an inferior wall myocardial infarction: A rare clinical entity

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Ankur C. Thummar

2014-09-01

Full Text Available Isolated single coronary artery without other congenital cardiac anomalies is very rare among the different variations of anomalous coronary patterns. The prognosis in patients with single coronary varies according to the anatomic distribution and associated coronary atherosclerosis. If the left main coronary artery travels between the aorta and pulmonary arteries, it may be a cause of sudden cardiac death. We present multimodality images of a single coronary artery, in which the whole coronary system originated by a single trunk from the right sinus of Valsalva with inter-arterial course of left main coronary artery. This rare type of single coronary artery was classified as RII-B type according to Lipton's scheme of classification. A significant flow-limiting lesions were found in the right coronary artery that was successfully treated with percutaneous coronary intervention.

Lower urinary tract symptoms and prostatic calculi: A rare presentation of alkaptonuria

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F K Sridhar

2012-01-01

Full Text Available Alkaptonuria is a rare tyrosine metabolic disorder. A deficiency of homogentisic acid oxidase leads to accumulation of homogentisic acid in the body. Dark-colored urine, cutaneous pigmentations and musculoskeletal deformities are characteristic features. Storage and voiding lower urinary tract symptoms due to prostatic calculi is a rare presentation.

A rare presentation of atypical demyelination: tumefactive multiple sclerosis causing Gerstmann’s syndrome

Science.gov (United States)

2014-01-01

Background Tumefactive demyelinating lesions are a rare manifestation of multiple sclerosis (MS). Differential diagnosis of such space occupying lesions may not be straightforward and sometimes necessitate brain biopsy. Impaired cognition is the second most common clinical manifestation of tumefactive MS; however complex cognitive syndromes are unusual. Case presentation We report the case of a 30 year old woman who presented with Gerstmann’s syndrome. MRI revealed a large heterogeneous contrast enhancing lesion in the left cerebral hemisphere. Intravenous corticosteroids did not stop disease progression. A tumour or cerebral lymphoma was suspected, however brain biopsy confirmed inflammatory demyelination. Following diagnosis of tumefactive MS treatment with natalizumab effectively suppressed disease activity. Conclusions The case highlights the need for clinicians, radiologists and surgeons to appreciate the heterogeneous presentation of tumefactive MS. Early brain biopsy facilitates rapid diagnosis and management. Treatment with natalizumab may be useful in cases of tumefactive demyelination where additional evidence supports a diagnosis of relapsing MS. PMID:24694183

Osteolytic Bone Lesions - A Rare Presentation of AML M6.

Science.gov (United States)

Geetha, N; Sreelesh, K P; Priya, M J; Lali, V S; Rekha, N

2015-01-01

Acute myeloid leukemia (AML) M6 is a rare form of AML accounting for M6 before. We discuss the case of a 17 year old boy with AML M6, who presented with osteolytic lesion of right humerus. He was treated with induction and consolidation chemotherapy. The present case is the first report in literature of AML M6 presenting with skeletal lesions.

A rare presentation in two cases with review of literature

African Journals Online (AJOL)

2011-07-29

Jul 29, 2011 ... liver, lungs, and the eyes.[1] Lymphadenopathy is a rare mode of presentation of cysticercus infestation.[2,3] We report two cases of cysticercus lymphadenitis involving the cervical lymph nodes. Case Report. A 7-year-old male child and a 28-year-old woman, both vegetarians by their food habit, presented ...

Mid Arm Swelling- A Rare Presentation of Filariasis

OpenAIRE

Haren Oza; Jignasa Bhalodia; Ami Shah; Palak Modi

2014-01-01

Bancroftian Filariasis is a tropical and subtropical disease caused by Wuchereria bancrofti and transmitted by the Culex mosquitoes. The diagnosis of it is conventionally made by demonstrating microfilariae in the peripheral blood smear. Microfilaria and adult filarial worm have been incidentally detected in fine needle aspirates of various lesions. We here report a rare case presentation of Bancroftian filariasis in 20 years old asymptomatic male coming from an endemic area with swelling in ...

Peripheral Presentation of Periapical Cyst: A Rare Finding

OpenAIRE

Nilesh Kumar; Sameer A Zope; Mohan S Sannale

2015-01-01

Periapical cyst is a slow growing dental cyst, which is discove­ red on routine intraoral radiograph or cause localized intra­ osseous jaw swelling. It is typically found at root apex of the involved tooth and is discovered on routine radiography. This paper reports a rare presentation of periapical cyst. The cyst was localized in the premaxillary subcutaneous tissue, causing diagnostic difficulty. The steps in diagnosis of the lesion are also discussed

Rare diseases in clinical endocrinology: a taxonomic classification system.

Science.gov (United States)

Marcucci, G; Cianferotti, L; Beck-Peccoz, P; Capezzone, M; Cetani, F; Colao, A; Davì, M V; degli Uberti, E; Del Prato, S; Elisei, R; Faggiano, A; Ferone, D; Foresta, C; Fugazzola, L; Ghigo, E; Giacchetti, G; Giorgino, F; Lenzi, A; Malandrino, P; Mannelli, M; Marcocci, C; Masi, L; Pacini, F; Opocher, G; Radicioni, A; Tonacchera, M; Vigneri, R; Zatelli, M C; Brandi, M L

2015-02-01

Rare endocrine-metabolic diseases (REMD) represent an important area in the field of medicine and pharmacology. The rare diseases of interest to endocrinologists involve all fields of endocrinology, including rare diseases of the pituitary, thyroid and adrenal glands, paraganglia, ovary and testis, disorders of bone and mineral metabolism, energy and lipid metabolism, water metabolism, and syndromes with possible involvement of multiple endocrine glands, and neuroendocrine tumors. Taking advantage of the constitution of a study group on REMD within the Italian Society of Endocrinology, consisting of basic and clinical scientists, a document on the taxonomy of REMD has been produced. This document has been designed to include mainly REMD manifesting or persisting into adulthood. The taxonomy of REMD of the adult comprises a total of 166 main disorders, 338 including all variants and subtypes, described into 11 tables. This report provides a complete taxonomy to classify REMD of the adult. In the future, the creation of registries of rare endocrine diseases to collect data on cohorts of patients and the development of common and standardized diagnostic and therapeutic pathways for each rare endocrine disease is advisable. This will help planning and performing intervention studies in larger groups of patients to prove the efficacy, effectiveness, and safety of a specific treatment.

Atrial Septal Aneurysm Presenting as Clubbing without Clinically Apparent Cyanosis.

Science.gov (United States)

Goyal, Laxmi Kant; Banerjee, S; Yadav, R N; Singh, Gajraj; Ganguli, Sujata; Isran, Rohit

2015-09-01

Atrial septal aneurysm (ASA) is a localised "saccular" deformity which protrudes to the right or the left atrium or on both sides. It is a rare, but well recognised cardiac abnormality. It is usually an incidental finding or may presents as atrial arrhythmias or arterial embolism. Though it is an acyanotic congenital heart disease but it may result in significant right to left shunt and cyanosis. We describe a patient of ASA with atrial septal defect who presented with clubbing and right to left shunt without clinically apparent cyanosis. © Journal of the Association of Physicians of India 2011.

Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network.

Science.gov (United States)

Shimizu, Reiko; Ogata, Katsuhisa; Tamaura, Akemi; Kimura, En; Ohata, Maki; Takeshita, Eri; Nakamura, Harumasa; Takeda, Shin'ichi; Komaki, Hirofumi

2016-07-11

Duchenne muscular dystrophy (DMD) is the most commonly inherited neuromuscular disease. Therapeutic agents for the treatment of rare disease, namely "orphan drugs", have recently drawn the attention of researchers and pharmaceutical companies. To ensure the successful conduction of clinical trials to evaluate novel treatments for patients with rare diseases, an appropriate infrastructure is needed. One of the effective solutions for the lack of infrastructure is to establish a network of rare diseases. To accomplish the conduction of clinical trials in Japan, the Muscular dystrophy clinical trial network (MDCTN) was established by the clinical research group for muscular dystrophy, including the National Center of Neurology and Psychiatry, as well as national and university hospitals, all which have a long-standing history of research cooperation. Thirty-one medical institutions (17 national hospital organizations, 10 university hospitals, 1 national center, 2 public hospitals, and 1 private hospital) belong to this network and collaborate to facilitate clinical trials. The Care and Treatment Site Registry (CTSR) calculates and reports the proportion of patients with neuromuscular diseases in the cooperating sites. In total, there are 5,589 patients with neuromuscular diseases in Japan and the proportion of patients with each disease is as follows: DMD, 29 %; myotonic dystrophy type 1, 23 %; limb girdle muscular dystrophy, 11 %; Becker muscular dystrophy, 10 %. We work jointly to share updated health care information and standardized evaluations of clinical outcomes as well. The collaboration with the patient registry (CTSR), allows the MDCTN to recruit DMD participants with specific mutations and conditions, in a remarkably short period of time. Counting with a network that operates at a national level is important to address the corresponding national issues. Thus, our network will be able to contribute with international research activity, which can lead to

Cardiovocal syndrome – A rare presentation of primary pulmonary hypertension

Directory of Open Access Journals (Sweden)

Om Shankar

2014-05-01

Full Text Available Primary pulmonary hypertension is a well known entity with characteristic features more common in females presenting commonly with dyspnea. However primary pulmonary hypertension presenting as hoarseness of voice is rare occurring most likely due to compression of left recurrent laryngeal nerve between normal aorta and dilated tense pulmonary artery. Here we are presenting a case of 19 year old boy with primary pulmonary hypertension who presented with hoarseness of voice as predominant symptom.

Bilateral Supernumerary Kidney: A Very Rare Presentation

Science.gov (United States)

Keskin, Suat; Batur, Abdussamet; Keskin, Zeynep; Koc, Abdulkadir; Firat Ozcan, Irfan

2014-01-01

To our knowledge, bilateral supernumerary kidney is a very rare renal abnormality and there are five cases presented in the literature. It is difficult to diagnose supernumerary kidney and clinicians have not detected most cases preoperatively. Laboratory and imaging studies were acquired and carefully examined. The normal laboratory tests were found. Emergency ultrasonography was performed and they revealed no signs of parenchymal abnormality in both kidneys. Serial imaging study including enhanced computed tomography (CT) was performed. An imaging study identified bilateral supernumerary kidney with expanded collecting systems. On each side, significant rotation anomaly was found. In addition, there were two different renal arteries originating from the aorta. This report presents radiological determinations of supernumerary kidney bilaterally in a young man. We think that CT commonly appears to be enough for the diagnosis of supernumerary kidneys. PMID:25780543

Congenital pulmonary airway malformation (CPAM) with initial presentation in an adult: a rare presentation of a rare disease.

Science.gov (United States)

Abu Omar, Mohannad; Tylski, Emily; Abu Ghanimeh, Mouhanna; Gohar, Ashraf

2016-09-26

Congenital pulmonary airway malformation (CPAM) is a rare congenital abnormality with unknown exact aetiology or clear genetic association. It is characterised by a failure of bronchial development and localised glandular overgrowth. Typically, it is diagnosed on prenatal ultrasound, only infrequently in children, and even less commonly in adults. We present a case of a 25-year-old man, with no previous lung diseases who presented with right-sided chest pain, fever and cough suggestive of pulmonary infection. Chest imaging, including CT scan, showed a large focal cystic mass within the right lower lobe along with ground glass opacities suggestive of CPAM. He was started on intravenous antibiotics. Bronchoscopy showed a large amount of pus in the right lung and bronchoalveolar lavage confirmed the microbiological diagnosis of methicillin-resistant Staphylococcus aureus. He improved with antibiotic treatment. He was discharged with 6-week course of antibiotics and follow-up afterward. 2016 BMJ Publishing Group Ltd.

Clinical significance of circumportal pancreas, a rare congenital anomaly, in pancreatectomy.

Science.gov (United States)

Ohtsuka, Takao; Mori, Yasuhisa; Ishigami, Kousei; Fujimoto, Takaaki; Miyasaka, Yoshihiro; Nakata, Kohei; Ohuchida, Kenoki; Nagai, Eishi; Oda, Yoshinao; Shimizu, Shuji; Nakamura, Masafumi

2017-08-01

Circumportal pancreas is a rare congenital pancreatic anomaly. The aim of this study was to clarify the clinical characteristics of patients with circumportal pancreases undergoing pancreatectomy. The medical records of 508 patients who underwent pancreatectomy were retrospectively reviewed. The prevalence of circumportal pancreas and related anatomical variations were assessed. Surgical procedures and postoperative outcomes were compared in patients with and without circumportal pancreas. Circumportal pancreas was observed in 9 of the 508 patients (1.7%). In all nine patients, the portal vein was completely encircled by the pancreatic parenchyma above the level of the splenoportal junction, and the main pancreatic duct ran dorsal to the portal vein. The rate of variant hepatic artery did not differ significantly in patients with and without circumportal pancreas. Pancreatic fistula developed more frequently in patients with than without circumportal pancreas (44% vs. 14%, p = 0.03), but other clinical parameters did not differ significantly in these two groups. Despite being rare, circumportal pancreas may increase the risk of postoperative pancreatic fistula in patients undergoing pancreatectomy. However, a prospective, large-cohort study is necessary to determine the real incidence of relevant anatomical variations and the definitive clinical significance of this rare anomaly. Copyright © 2016 Elsevier Inc. All rights reserved.

Metastatic hepatocellular carcinoma in the maxilla and mandible, an extremely rare presentation

Directory of Open Access Journals (Sweden)

Satya Ranjan Misra

2015-01-01

Full Text Available Malignancy is characterized by anaplasia, invasiveness, and metastasis. Primary oral squamous cell carcinoma is the most prevalent oral malignancy, but secondary malignancy from distant sites have also been reported. Hepatocellular carcinoma (HCC is a common primary liver malignancy that frequently metastasizes during the course of the disease, but < 1% of cases show oral involvement. Such secondary neoplasms do not have any pathognomonic clinical or radiologic findings, and therefore they pose a diagnostic challenge. Hence, in the differential diagnosis of malignant tumors of the oral cavity, it is essential to consider the occurrence of both primary as well as metastatic tumors despite the low incidence of the latter. A rare case of HCC metastasizing to both the maxilla and mandible is presented, in which the patient succumbed to the disease as a result of the delay in diagnosis.

Hiccup: An Extremely Rare Presentation of Thyrotoxicosis of Graves’ Disease

Directory of Open Access Journals (Sweden)

Irshad Parray

2011-03-01

Full Text Available Persistent hiccup is a rare but potentially severe condition that can be symptomatic of a variety of diseases or idiopathic. Most episodes last only a few minutes and are self-limited, but hiccup can get persistent and become a real problem for physician and patient alike. The center of hiccup may be activated by a great variety of stimuli travelling along different nerve pathways and bring different effecter responses. We report a case of persistent hiccup as a presentation of impending thyroid storm of Graves’ disease. Though the condition is rare, clinicians should remain alert to the possibility of this diagnosis.

Splenic Infarct: A Rare Presentation in a Pediatric Patient

Directory of Open Access Journals (Sweden)

Palla Bhattarai

2014-12-01

Full Text Available A previously healthy 16-year-old male presented with a two day history of persistent epigastric pain. His physical examination was significant for tenderness in the left hypochondriac region with a palpable spleen 2cm below the left sub-costal margin. A CT scan of the abdomen showed a splenic infarct. Heterophile and EBV VCA IgM antibody test were positive. This is a rare case of infectious mononucleosis presenting with splenic infarct in an adolescent male without comorbidities. Keywords: infectious mononucleosis; splenic infarct.

Primary tubercular caecal perforation: a rare clinical entity

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Moses Sonia

2010-03-01

Full Text Available Abstract Background Intestinal tuberculosis is a common problem in endemic areas, causing considerable morbidity and mortality. An isolated primary caecal perforation of tubercular origin is exceptionally uncommon. Case presentation We report the case of a 39 year old male who presented with features of perforation peritonitis, which on laparotomy revealed a caecal perforation with a dusky appendix. A standard right hemicolectomy with ileostomy and peritoneal toileting was done. Histopathology revealed multiple transmural caseating granulomas with Langerhans-type giant cells and acid-fast bacilli, consistent with tuberculosis, present only in the caecum. Conclusions We report this extremely rare presentation of primary caecal tuberculosis to sensitize the medical fraternity to its rare occurrence, which will be of paramount importance owing to the increasing incidence of tuberculosis all over the world, especially among the developing countries.

Unusual Origin and Rare Presentation of Primary Cardiac Lymphoma

Science.gov (United States)

Mohamed, Amir; Cherian, Sanjay; El-Ashmawy, Ahmed; Abdelmoneim, Salah Eldin; Soliman, Maher; Abu-Rayan, Mohamed; Kalangos, Afksendyios

2011-01-01

Non-Hodgkin lymphoblastic lymphomas are very uncommon tumors that rarely involve the heart; however, when they do, they typically cause cardiac symptoms. Herein, we describe the case of a young woman who presented with respiratory symptoms. These were caused by a high-grade lymphoblastic lymphoma, which originated in the left inferior pulmonary vein and extended into the left atrium. The tumor was surgically debulked, but it recurred in 1 month, and the patient underwent chemotherapy. Six months later, she had recurrent respiratory symptoms, and echocardiography revealed a persistent mass in the left lower lobar vein. A modified chemotherapy regimen led to complete resolution of the tumor within 2 months. We are unaware of other reports of a primary cardiac non-Hodgkin lymphoblastic lymphoma with this unusual site of origin and rare manifestation of symptoms. PMID:21841872

Bullosis Diabeticorum: Rare Presentation in a Common Disease

Directory of Open Access Journals (Sweden)

Vineet Gupta

2014-01-01

Full Text Available A 27-year-old African American male presented with a sudden onset of blisters. He had a past medical history of uncontrolled diabetes mellitus type I, diabetic vasculopathy, and neuropathy. The physical examination revealed nonerythematous skin denudations on both elbows and lateral aspect of arm bilaterally. Investigations which included skin biopsies confirmed the diagnosis of bullosis diabeticorum. The bullae were treated with hydrotherapy and healed with no complications in 4 weeks. We present this case to illustrate the rare occurrence of diabetic bulla in a diabetic patient especially with poor glycemic control. The case is also a reminder of the importance of diabetes screening in nondiabetic patients who are diagnosed with diabetic bulla.

Paediatric Stroke: A Rare Presentation of Iron Deficiency Anemia in a Four Year Old Child.

Science.gov (United States)

Subedi, K; Koirala, S; Basnet, R; Poudel, A

Paediatric stroke is an uncommon syndrome with even lesser annual incidence rates of arterial ischemic stroke in infants and children. In children the diagnosis of stroke is frequently delayed or missed. This is due to subtle and nonspecific clinical presentations, a complicated differential diagnosis and a lack of awareness by physicians and also delay in the seeking of medical attention as in our case. We report you a rare case of a four year old child from remote Nepal who presented to our Out Patient Department after a long gap of around four months after the sudden onset of loss of consciousness and decreased movement of right limbs who after detailed history examination and lab investigations and imaging revealed ischemic stroke due to iron deficiency anemia.

Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA).

Science.gov (United States)

Hattingen, Elke; Handke, Nikolaus; Cremer, Kirsten; Hoffjan, Sabine; Kukuk, Guido Matthias

2017-12-01

Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited neurologic disorders with iron accumulation in the basal ganglia, which share magnetic resonance (MR) imaging characteristics, histopathologic and clinical features. According to the affected basal nuclei, clinical features include extrapyramidal movement disorders and varying degrees of intellectual disability status. The most common NBIA subtype is caused by pathogenic variants in PANK2. The hallmark of MR imaging in patients with PANK2 mutations is an eye-of-the-tiger sign in the globus pallidus. We report a 33-year-old female with a rare subtype of NBIA, called beta-propeller protein-associated neurodegeneration (BPAN) with a hitherto unknown missense variant in WDR45. She presented with BPAN's particular biphasic course of neurological symptoms and with a dominant iron accumulation in the midbrain that enclosed a spotty T2-hyperintensity.

Atypical presentation of HELLP syndrome: clinical case report

Directory of Open Access Journals (Sweden)

Juan Manuel Tobar Parra

2017-12-01

Full Text Available Objective: To describe a case of HELLP syndrome with atypical presentation form. Background: HELLP syndrome is a complication of preeclampsia, characterized by: haemolysis, elevation of liver enzymes and thrombocytopenia; Can present atypical, without hypertension or proteinuria, 10-20% of the cases. Case report: 38 year old female patient, with a pregnancy of 38.5 weeks of gestation, treated at the Hospital Universitario San José de Popayán (Colombia. Atypical HELLP syndrome is diagnosed in a pregnant woman with thrombocytopenia, impaired liver enzymes, but no evidence of proteinuria or hypertension. Gestation is terminated by cesarean section and magnesium sulfate is given for 24 hours, with adequate post-surgical evolution, clinical improvement of the symptomatology presented, normalization of liver enzymes and platelet elevation. Conclusion: Knowledge of this syndrome, although of rare occurrence, allows a fast action, an effective diagnosis and treatment, to avoid morbidity and greater maternal fetal mortality.

Jejunal Perforation: A Rare Presentation of Burkitt’s Lymphoma—Successful Management

Directory of Open Access Journals (Sweden)

Samir Ranjan Nayak

2014-01-01

Full Text Available Malignant tumors of the small bowel presenting as acute abdomen are a rare occurrence. Burkitt’s lymphoma presenting as a surgical emergency needing emergency laparotomy is an uncommon presentation of this tumor. We present an interesting case of jejunal perforation as a first manifestation of Burkitt’s lymphoma which was successfully managed with surgical resection, high dose chemotherapy, and good supportive care.

A rare presentation of craniopharyngioma: delayed puberty

Science.gov (United States)

İnci, Mehmet Fatih; Özkan, Fuat; Bozkurt, Selim; Demir, Caner Feyzi

2012-01-01

Craniopharyngiomas are the most frequently encountered suprasellar tumours in children. Owing to the slow growth rate of these tumours, they are often quite large before becoming symptomatic. They are more common among children and older adults (55–74 years). Depending upon the direction of growth and tumour size, craniopharyngiomas can affect the hypothalamus, pituitary stalk, optic nerves and chiasm and carotid arteries. Compression of these neural and vascular structures frequently precipitates endocrine disorders, visual loss and an increased intracranial pressure. Hypopituitarism leading to a delayed puberty is a rare presentation of craniopharyngioma. The diagnosis of craniopharyngioma is usually made with the classic radiological imaging features based on CT and MRI. PMID:23195827

A rare case of vulvar squamous cell carcinoma; case presentation

Directory of Open Access Journals (Sweden)

Cristina N. Cozma

2018-05-01

Full Text Available Objectives. Vulvar cancer is a rare gynecological malignancy, with an incidence of 1.5 per 100 000 women/year. The most common vulvar cancer is developed in squamous cells, the most encountered type of skin cells. Case report. We report a case of a 72-year-old female admitted in the Department of Plastic Surgery of Emergency Clinical Hospital “Prof. Dr. Agrippa Ionescu” with a 5/4.2 cm painful ulcerated tumoral mass located in the vulvar area. The lesion slowly increased in size over the past 12 months. The tumour was surgically removed with oncological safety margins and sent for histopathological evaluation. The histopathological examination revealed an ulcerated squamous carcinoma with lymphovascular and perineural invasion, but with negative margins. Postoperative results were favorable, and no local or general complications were observed. Conclusion. We highlight this case due to its unusual presentation in the clitoral area. Moreover, considering the potential for recurrence we point out the importance of the radical vulvectomy with regional lymphadenectomy and histopathological examination, in order to put a precise diagnosis and ensure the best possible treatment for the patient.

Innovative measures to combat rare diseases in China: The national rare diseases registry system, larger-scale clinical cohort studies, and studies in combination with precision medicine research.

Science.gov (United States)

Song, Peipei; He, Jiangjiang; Li, Fen; Jin, Chunlin

2017-02-01

China is facing the great challenge of treating the world's largest rare disease population, an estimated 16 million patients with rare diseases. One effort offering promise has been a pilot national project that was launched in 2013 and that focused on 20 representative rare diseases. Another government-supported special research program on rare diseases - the "Rare Diseases Clinical Cohort Study" - was launched in December 2016. According to the plan for this research project, the unified National Rare Diseases Registry System of China will be established as of 2020, and a large-scale cohort study will be conducted from 2016 to 2020. The project plans to develop 109 technical standards, to establish and improve 2 national databases of rare diseases - a multi-center clinical database and a biological sample library, and to conduct studies on more than 50,000 registered cases of 50 different rare diseases. More importantly, this study will be combined with the concept of precision medicine. Chinese population-specific basic information on rare diseases, clinical information, and genomic information will be integrated to create a comprehensive predictive model with a follow-up database system and a model to evaluate prognosis. This will provide the evidence for accurate classification, diagnosis, treatment, and estimation of prognosis for rare diseases in China. Numerous challenges including data standardization, protecting patient privacy, big data processing, and interpretation of genetic information still need to be overcome, but research prospects offer great promise.

Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.

Science.gov (United States)

Ganie, M A; Laway, B A; Nisar, S; Wani, M M; Khurana, M L; Ahmad, F; Ahmed, S; Gupta, P; Ali, I; Shabir, I; Shadan, A; Ahmed, A; Tufail, S

2011-11-01

Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India. Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form. Subjects with juvenile-onset non-autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 ±7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied. The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.

Adult primary hypoparathyroidism: A rare presentation

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Ashima Datey Chakrabarty

2013-01-01

Full Text Available The common causes of stridor in adults are abscesses or swelling of upper airway, tumors, paralysis or malfunction of vocal cords. Laryngospasm due to hypocalcemia is a rare cause of stridor in adults, although occasionally reported in the neonates. We report an elderly lady having stridor and laryngospasm, secondary to acquired hypoparathyroidism and secondary hypocalcemia, without risk factors for hypoparathyroidism such as recent neck surgery or irradiation. We did an extensive review of literature to find only a few cases of acquired primary hypoparathyroidism in adults with the only complaint being stridor. This case underlines the fact that a common symptom like stridor rarely occurs due to uncommon causes. This case is being reported for its rarity and amenability to complete cure in event of correct diagnosis.

Occipital condyle metastasis: an unusual clinical presentation in carcinoma of the lung

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Pasricha, R.; Mohanty, P.P.; Madan, R.C.; Datta, N.R.

2005-01-01

Metastases to the base of the skull and occipital condyle metastases are uncommon as a presenting feature of malignancy. Lung cancers are known for their metastatic potential to various sites, some of which could be the only presenting feature of the underlying malignancy. However, occipital condyle metastases are very rare and to the best of our knowledge, metastases to this site from carcinoma of the lung, as a presenting feature, have never been reported in the literature. The present case report describes the clinical, radiological and the therapeutic interventions that were undertaken in a patient presenting with lung cancer who had solely the features of occipital condyle metastasis

Bilateral Facial Diplegia: A Rare Presenting Symptom of Lyme

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John Ashurst

2017-01-01

Full Text Available Lyme disease is a common disease that is faced by the physician but also acts a mimicker of many other disease processes. Facial palsies, especially bilateral, are a relatively rare presenting symptom of Lyme disease and may warrant further investigation. A thorough history and physical examination coupled with precision testing may aid the physician when faced with a patient with the diagnostic dilemma of facial diplegia.

A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture

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Ji-Yeon Song

2017-09-01

Full Text Available Cushing disease in children and adolescents, especially with multiple pituitary adenomas (MPAs, is very rare. We report 17-year-old boy with MPAs. He presented with a vertebral compression fracture, weight gain, short stature, headache, and hypertension. On magnetic resonance imaging (MRI, only a left pituitary microadenoma was found. After surgery, transient clinical improvement was observed but headache and hypertension were observed again after 3 months later. Follow-up MRI showed a newly developed right pituitary microadenoma 6 months after the surgery. The need for careful clinical and radiographic follow-up should be emphasized in the search for potential MPAs in patients with persistent Cushing disease.

A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture.

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Song, Ji-Yeon; Mun, Sue-Jean; Sung, Soon-Ki; Hwang, Jae-Yeon; Baik, Seung-Kug; Kim, Jee Yeon; Cheon, Chong-Kun; Kim, Su-Young; Kim, Yoo-Mi

2017-09-01

Cushing disease in children and adolescents, especially with multiple pituitary adenomas (MPAs), is very rare. We report 17-year-old boy with MPAs. He presented with a vertebral compression fracture, weight gain, short stature, headache, and hypertension. On magnetic resonance imaging (MRI), only a left pituitary microadenoma was found. After surgery, transient clinical improvement was observed but headache and hypertension were observed again after 3 months later. Follow-up MRI showed a newly developed right pituitary microadenoma 6 months after the surgery. The need for careful clinical and radiographic follow-up should be emphasized in the search for potential MPAs in patients with persistent Cushing disease.

A rare presentation of extra nodal rosai-dorfman disease (case report

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Abbas Al-Ramzi

2017-06-01

It is a very rare condition that Rosai-Dorfman disease might shoe a temporoparietal area involvement can be seen from a review of all literature. The presentation of the disease, differential diagnosis and treatment were discussed.

A rare case of cleidocranial dysplasia presenting with failure to thrive

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Mahajan, Parag Suresh; Mahajan, Anuradha Parag; Mahajan, Prashant Suresh

2015-01-01

Cleidocranial dysplasia (CCD) is a rare (1:1,000,000) congenital condition secondary to spontaneous mutation (40%) or autosomal dominant inheritance (60%) affecting skeletal and dental systems. Hypomineralization of the hypoplastic clavicles and/or cranium is the major feature observed by prenatal ultrasound. Radiologically clavicles are hypoplastic or absent in chest X-ray. Delayed closure of the fontanelle and the skull sutures in pediatric and adolescent population and increased mobility of shoulders in all age groups (exhibited by the ability to bring shoulders close to each other) are prominent clinical diagnostic features of CCD. The diagnosis of CCD is often missed or significantly delayed. The management of CCD involves a multidisciplinary approach and its early diagnosis is essential to select an optimum plan and therapeutic benefit. We present here a case of CCD in a 17-month-old girl referred to us for investigation of below average weight and height gain; we stress on the usefulness of early diagnosis in the management of CCD and discuss current management concepts. PMID:25810671

A Very Rare Presentation of Multiple Myeloma: Unilateral Raccoon Eye

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Ceyhun Varım

2015-08-01

Two thirds of patients complain of bone pain, especially lower back pain. MM could be diagnosed after a pathologic fracture occurs in one third of patients. Presentation with symptoms related to hyperviscosity, hypercalcemia and bleeding tendency could also be observed. A rare presentation of MM is peri-orbital ecchymotic lesion (raccoon eye. Here, we report a 64 years old, male patient presented with unilateral raccoon eye and high erythrocyte sedimentation rate (ESR to internal medicine outpatient. The patient was referred to hematology outpatient and was diagnosed with multiple myeloma.

Adenoid Cystic Carcinoma of Nasal Cavity in an Adolescent Male- A Rare Presentation

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Harshi Dhingra

2018-04-01

Full Text Available Adenoid Cystic Carcinoma (ACC is uncommonly found outside the major or minor salivary glands and is especially rare when located in nasal cavity. A case report of 13 year old boy who presented with mass in nasal cavity and epistaxis is presented here. Endoscopic removal of mass was done and histopathology revealed ACC. ACCs are slow growing tumours with a propensity for frequent local recurrence and early perineural and haematogenous spread. Early diagnosis requires a high index of suspicion for this rare pathology.

A rare presentation of lipoma on mandibular mucogingival junction

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Gaurav Sharma

2016-01-01

Full Text Available Lipoma is the most common tumor of mesenchymal tissues of body, but its occurrence in oral cavity is infrequent. Buccal mucosa is the most common intraoral site of lipoma followed by tongue, floor of the mouth, and buccal vestibule. The involvement of mucogingival junction is rare. We present a unique case report of oral lipoma occurring on mandibular mucogingival junction with review of literature which has emphasis on differential diagnosis.

Neuroendocrine tumor of the inguinal node: A very rare presentation

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Niharika Bisht

2017-12-01

Full Text Available Neuroendocrine tumors are a broad family of tumors arising most commonly in the gastrointestinal tract and the bronchus pulmonary tree. The other common sounds are the parathyroid, pituitary and adrenal gland. Inguinal node as a primary presentation of a neuroendocrine tumor is an extremely rare presentation. We present the case of a 43-year-old-male who presented with the complaints of an inguinal node swelling without any other symptoms and on further evaluation was diagnosed to have a non-metastatic neuroendocrine tumor of the inguinal node. He was treated with a combination of chemotherapy and surgery and is presently awaiting completion chemotherapy.

Neurobrucellosis: clinical, diagnostic, therapeutic features and outcome. Unusual clinical presentations in an endemic region

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Nurgul Ceran

Full Text Available Brucellosis is a zoonotic infection and has endemic characteristics. Neurobrucellosis is an uncommon complication of this infection. The aim of this study was to present unusual clinical manifestations and to discuss the management and outcome of a series of 18 neurobrucellosis cases. Initial clinical manifestations consist of pseudotumor cerebri in one case, white matter lesions and demyelinating syndrome in three cases, intracranial granuloma in one case, transverse myelitis in two cases, sagittal sinus thrombosis in one case, spinal arachnoiditis in one case, intracranial vasculitis in one case, in addition to meningitis in all cases. Eleven patients were male and seven were female. The most prevalent symptoms were headache (83% and fever (44%. All patients were treated with rifampicin, doxycycline plus trimethoprim-sulfamethoxazole or ceftriaxone. Duration of treatment (varied 3-12 months was determined on basis of the CSF response. In four patients presented with left mild sequelae including aphasia, hearing loss, hemiparesis. In conclusion, although mortality is rare in neurobrucellosis, its sequelae are significant. In neurobrucellosis various clinical and neuroradiologic signs and symptoms can be confused with other neurologic diseases. In inhabitants or visitors of endemic areas, neurobrucellosis should be kept in mind in cases that have unusual neurological manifestations.

A prospective cohort study of the clinical presentation of non-traumatic osteonecrosis of the femoral head: spine and knee symptoms as clinical presentation of hip osteonecrosis.

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Hauzeur, Jean-Philippe; Malaise, Michel; de Maertelaer, Viviane

2016-07-01

To study the clinical presentation of femoral head osteonecrosis (ONFH). Publications dedicated to this aspect of ONFH are rare. Our aim was to systematically collect and describe the clinical data. A prospective survey was conducted in a cohort of ONFH recruited from a dedicated clinic for osteonecrosis. The history of symptoms, medical management, and physical findings were obtained from 88 patients suffering from 125 ONFH. Subgroups were formed: bilateral versus unilateral ONFH, radiological stages 1-2 (pre-fractured) versus fractured stage 3 versus stage 4. ONFH was bilateral in 63 %, especially in corticosteroid users and in sickle-cell cases. These patients were younger but had similar BMIs compared to the unilateral cases. The pain was mechanical in 79 % of hips and inflammatory in 21 %. Acute pain at the onset was present in 55 % of hips. The localization of this pain was variable, including in the groin, the buttocks, or diffused in the lower limbs. A limp was present in 50 % of the patients, only when one hip was painful. The physical examination of the hip was normal in 31 %, especially in stages 1-2 (55 %). The diagnosis delay was 12 months, with inadequate medical management in 51 % of patients. In ONFH cases, no typical clinical pattern was found. The clinical presentation was very variable, sometimes having spine or knee symptoms with a normal physical examination of the hip. ONFH should be systematically suspected in cases of onset of pain in the pelvis, buttocks, groin, and lower limbs.

A paradoxical presentation of rickets and secondary osteomyelitis of the jaw in Type II autosomal dominant osteopetrosis: Rare case reports.

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Jayachandran, S; Kumar, M Suresh

2016-01-01

Osteopetrosis is a rare genetic bone disorder arising due to a defect in the differentiation or function of osteoclast which results in a generalized increase in bone mass. Osteomyelitis is one of the most common complications because of decreased bone marrow function and compromised blood supply. Radiologist plays a vital role in diagnosing osteopetrosis. Here, we present two cases of autosomal dominant osteopetrosis Type II (ADO II) with secondary osteomyelitis changes which were reported to our department. One of these two cases presented with secondary osteomyelitis in both maxilla and mandible and features of rickets, which is very rarely seen in ADO II. To the best of our knowledge, the presentation of rickets with ADO is the first of its kind to be reported. In this paper, we describe the clinical and radiological features leading to the diagnosis of ADO in these two patients. Further, a review of the literature regarding ADO is discussed.

A Type-II First Branchial Cleft Anomaly Presenting as a Post-Auricular Salivary Fistula: A Rare Presentation.

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Jain, S; Deshmukh, Pt; Gupta, M; Shukla, S

2014-01-01

First branchial cleft anomalies are rare with the average age of presentation as 19 years. There is an average delay of 3.5 years between initial presentation and adequate treatment due to diagnostic dilemma. A very rare variant of first branchial cleft anomaly presenting as a post-auricular salivary fistula is reported. A 12-year-old girl presented with a history of intermittent watery discharge, more so at the time of meals from a right post-auricular opening for last 3 years. Computed tomography sialography revealed a fistulous tract connecting the sub segmental duct of the parotid gland extending along the pre-tragus region in subcutaneous plane up to mastoid tip after passing inferior to external auditory canal. Superficial parotidectomy with identification of facial nerve branches was carried out for excision of the tract. Histopathology revealed sinus tract comprising of ectodermal components and acini of the parotid gland. We classified our case into work's type-2 based on anatomical location at an angle of mandible, its relationship to parotid gland and facial nerve and previous history of ear discharge. To the best of our knowledge, this is the first case of its type to be reported.

A Type-II First Branchial Cleft Anomaly Presenting as a Post-Auricular Salivary Fistula: A Rare Presentation

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Jain, S; Deshmukh, PT; Gupta, M; Shukla, S

2014-01-01

First branchial cleft anomalies are rare with the average age of presentation as 19 years. There is an average delay of 3.5 years between initial presentation and adequate treatment due to diagnostic dilemma. A very rare variant of first branchial cleft anomaly presenting as a post-auricular salivary fistula is reported. A 12-year-old girl presented with a history of intermittent watery discharge, more so at the time of meals from a right post-auricular opening for last 3 years. Computed tomography sialography revealed a fistulous tract connecting the sub segmental duct of the parotid gland extending along the pre-tragus region in subcutaneous plane up to mastoid tip after passing inferior to external auditory canal. Superficial parotidectomy with identification of facial nerve branches was carried out for excision of the tract. Histopathology revealed sinus tract comprising of ectodermal components and acini of the parotid gland. We classified our case into work's type-2 based on anatomical location at an angle of mandible, its relationship to parotid gland and facial nerve and previous history of ear discharge. To the best of our knowledge, this is the first case of its type to be reported. PMID:24669347

Clinical presentation and endoscopic features of primary gastric Burkitt lymphoma in childhood, presenting as a protein-losing enteropathy: a case report

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Chieng Jenny Hui Chia

2009-06-01

Full Text Available Abstract Introduction Burkitt lymphoma and B cell lymphomas in childhood may arise in many atypical locations, which on rare occasions can include gastric mucosa. A case of primary gastric Burkitt lymphoma is described in a child presenting as a protein-losing enteropathy, including the direct monitoring of the disease response by sequential endoscopic biopsy and molecular analysis. Case presentation We report a 9-year-old boy who presented with gross oedema, ascites and respiratory distress caused by a protein-losing enteropathy. Initial imaging investigations were non-diagnostic but gastroduodenal endoscopy revealed massive involvement of the gastric mucosa with a primary Burkitt lymphoma. His subsequent clinical progress and disease response were monitored directly by endoscopy and he remains in clinical remission 4 years after initial diagnosis. Conclusions This is the first case report of primary Burkitt lymphoma presenting as a protein-losing enteropathy. The clinical course and progress of the patient were monitored by sequential endoscopic biopsy, histology and molecular analysis by fluorescence in situ hybridisation.

Bell’s Palsy As a Rare First Presentation of Breast Cancer

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Mostafa Hosseini

2016-06-01

Full Text Available Background: Otalgia and Bell’s palsy are rare manifestations of metastasis and the most common presentation of an inflammatory process in the temporal bone.Case presentation: This article explains a 34-year-old woman with breast cancer who presented with cranial nerve palsy symptoms. The 7th and 8th cranial nerves were involved in the metastatic phase and then hoarseness was added to her symptoms. Brain MRI showed a petrous lesion in the temporal bone due to metastasis, which was the first clue to cancer. Her metastatic workup showed multiple bone lesions. On chest CT scan, multiple lung lesions were noted. Also, a breast mass was discovered on her chest CT scan. On breast examination an irregular mass fixed to the pectoralis muscle was found. Pathologic evaluation of samples obtained through ultrasound-guided core needle biopsy confirmed the diagnosis of invasive ductal carcinoma.Conclusion: Temporal bone metastases are rare and may be asymptomatic, or with mild symptoms mimicking mastoid infections. Physicians should consider metastatic cancer on the list of differential diagnoses in patients presenting with prolonged otologic symptoms or facial nerve disorders.

A systematic literature review of evidence-based clinical practice for rare diseases: what are the perceived and real barriers for improving the evidence and how can they be overcome?

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Rath, Ana; Salamon, Valérie; Peixoto, Sandra; Hivert, Virginie; Laville, Martine; Segrestin, Berenice; Neugebauer, Edmund A M; Eikermann, Michaela; Bertele, Vittorio; Garattini, Silvio; Wetterslev, Jørn; Banzi, Rita; Jakobsen, Janus C; Djurisic, Snezana; Kubiak, Christine; Demotes-Mainard, Jacques; Gluud, Christian

2017-11-22

Evidence-based clinical practice is challenging in all fields, but poses special barriers in the field of rare diseases. The present paper summarises the main barriers faced by clinical research in rare diseases, and highlights opportunities for improvement. Systematic literature searches without meta-analyses and internal European Clinical Research Infrastructure Network (ECRIN) communications during face-to-face meetings and telephone conferences from 2013 to 2017 within the context of the ECRIN Integrating Activity (ECRIN-IA) project. Barriers specific to rare diseases comprise the difficulty to recruit participants because of rarity, scattering of patients, limited knowledge on natural history of diseases, difficulties to achieve accurate diagnosis and identify patients in health information systems, and difficulties choosing clinically relevant outcomes. Evidence-based clinical practice for rare diseases should start by collecting clinical data in databases and registries; defining measurable patient-centred outcomes; and selecting appropriate study designs adapted to small study populations. Rare diseases constitute one of the most paradigmatic fields in which multi-stakeholder engagement, especially from patients, is needed for success. Clinical research infrastructures and expertise networks offer opportunities for establishing evidence-based clinical practice within rare diseases.

Tumour lysis syndrome: A rare acute presentation of locally advanced testicular cancer – Case report and review of literature

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Marcus Chow

2016-01-01

Full Text Available Tumour lysis syndrome (TLS is a potentially fatal complication of malignancy or its treatment. This uncommon syndrome comprises laboratory findings of hyperuricaemia, hypocalcaemia, hyperkalaemia and hyperphosphataemia. A literature search revealed a total of eight patients, with testicular cancer, who had TLS. All these patients had metastatic disease. We present a unique case of a 47-year-old gentleman we saw in clinic, who presented with a rapidly growing right groin mass and acute breathlessness, and discuss the diagnosis and management of TLS. TLS is extremely rare in testicular cancer but necessitates the awareness of urologists. TLS can occur spontaneously in testicular malignancy. Cell lysis in a rapidly proliferating germ cell tumour is a possible mechanism. The prompt identification and institution of management for TLS is crucial to improve clinical outcomes.

Macular edema might be a rare presentation of hydroxychloroquine-induced retinal toxicity

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Chih-Yao Chang

2017-01-01

Full Text Available The aim of this study is to report a rare case of macular edema as a presentation of hydroxychloroquine-related retinal toxicity. We presented a case of a 46-year-old female patient using hydroxychloroquine for underlying rheumatoid arthritis (RA with blurred vision over the left eye. Uveitis and macular edema were found initially. Systemic survey did not reveal any other etiology. Topical corticosteroid was given under the impression of RA-related uveitis. The uveitis resolved 1 week later, but macular edema persisted in spite of treatment. Under the suspicion of drug-related complication, we try to discontinue hydroxychloroquine. Her symptoms improved gradually after cessation of hydroxychloroquine, and further serial image study confirmed subsiding of the macular edema without any further treatment. Except the well-known signs of the retinal toxicity, macular edema might be a rare presentation of hydroxychloroquine-related retinal toxicity.

Concomitant Classic Hodgkin Lymphoma of Lymph Node and cMYC-Positive Burkitt Leukemia/Lymphoma of the Bone Marrow Presented Concurrently at the Time of Presentation: A Rare Combination of Discordant Lymphomas

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Dina S. Soliman

2016-01-01

Full Text Available Discordant lymphoma is rare condition in which different types of malignant lymphomas occurring in different anatomic sites. The two diseases may present clinically as concurrent or sequential disease (10. Herein we are reporting a Pakistani female in her 60s, a carrier of hepatitis B virus with multiple comorbidities presented with cervical lymphadenopathy, diagnosed as Hodgkin's lymphoma, mixed cellularity. During the staging workup, the patient was discovered to have extensive bone marrow (BM involvement by Burkitt leukaemia/lymphoma (BL. Cytogenetic analysis revealed positivity for t(8;14(q24;q32 confirmed by Fluorescence In Situ Hybridization (FISH for IGH/MYC. Epstein-Barr virus (EBV was demonstrated heavily in our case, with (EBV DNA of 24,295,560 copies/ml by PCR at time of presentation, in addition, the neoplastic cells in both diagnostic tissues (cervical lymph node and BM demonstrated positivity for EBV. A diagnosis of concomitant EBV related discordant lymphoma (classical Hodgkin lymphoma (cHL and Burkitt lymphoma (BL in leukemic phase was made. Among all reported cases, this case is highly exceptional because it is the first case of discordant/composite lymphoma, with this combination and concomitant presentation. Since we are dealing with a case with an exceptionally rare combination, we found it significant to elaborate more on its clinical features, contributing factors including EBV role, response to treatment, complications, and prognosis.

Peripheral T-cell lymphoma with unusual clinical presentation of rhabdomyolysis.

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Liu, Zhiyu; Medeiros, L Jeffrey; Young, Ken H

2017-03-01

Primary extranodal lymphoma is known to occur in nose, gastrointestinal tract, skin, bone, and central nervous system. However, it is extremely rare for primary lymphoma to arise in skeletal muscle. We report a case of a 32-year-old man who presented initially with fever and fatigue. He had a history of alcohol abuse. Laboratory studies and computerized tomography scan showed results consistent with rhabdomyolysis, but the cause of the rhabdomyolysis was undetermined. After biopsy of abdominal skeletal muscle with histologic examination and T-cell receptor gamma chain gene rearrangement analysis, the diagnosis of peripheral T-cell lymphoma was established. After two cycles of the cyclophosphamide, doxorubicin, vincristine, prednisone, and etoposide regimen, the patient's symptoms greatly improved. This is the third reported case of peripheral T-cell lymphoma arising in skeletal muscle reported in the literature and which presented clinically with rhabdomyolysis. The alcohol abuse during the clinical course likely worsens the pathologic process of the rhabdomyolysis. Copyright © 2015 John Wiley & Sons, Ltd. Copyright © 2015 John Wiley & Sons, Ltd.

A Rare Bilateral Presentation of Multiple Dens Invaginatus, Shovel-Shaped Incisor and Talon Cusp With Mesiodens.

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Hegde, S; Jain, M; Shubha, A B

2014-01-01

The aim of this paper is to describe a unique and unusual case of concomitant appearance of morphological dental anomalies in the maxillary anterior region, along with its management in a patient with no systemic abnormality. This case report describes the clinical and radiographic features of talon cusp, dens invaginatus, shovel-shaped incisors and a supernumerary tooth occurring in a single patient, which is a rare presentation. All 4 permanent maxillary incisors had dens invaginatus, the permanent maxillary canines showed the presence of talon cusps, the permanent maxillary central incisors were shovel-shaped and an erupted mesiodens was also observed. Treatment included restorative, surgical and orthodontic approaches.

Duodenal Tumor Presenting as Acquired Hemophilia in an 88-Year-Old Woman: A Clinical Case and Review of the Literature

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Nigel P. Murray

2012-01-01

Full Text Available Acquired hemophilia is a rare disease, presenting with severe hemorrhage, we present a case caused by a duodenal tumor, the clinical management, ethical implications, treatment recommendations, and a review of the literature.

An Unusual Presentation of Metanephric Adenofibroma: A Rare Case Report

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Kiran Agarwal

2017-10-01

Full Text Available Metanephric adenofibroma is a rare renal neoplasm with only a few case reports in literature. In majority of cases, it is asymptomatic. However, it may present with haematuria, polycythemia or hypertension. Radiologically, it is indistinguishable from other solid renal tumours. Definitive diagnosis can only be made on the basis of histopathology. It is a benign neoplasm and requires only surgical excision with no need for chemotherapy. Involvement of urinary bladder and presentation as bladder mass has never been reported. In this case report, we present a case of metanephric adenofibroma in a two-year-old male child manifesting with haematuria and urinary bladder mass.

A rare presentation of adult onset Still’s disease in an elderly patient

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Mariya Apostolova

2011-10-01

Full Text Available Adult onset Still’s disease (AOSD is a rare inflammatory disorder of unknown etiology that usually affects young adults. Very few patients older than 70-year-old have been reported. Clinical features include quotidian fevers, arthralgias, arthritis, pharyngitis, lymphadenopathy and an evanescent rash. AOSD should be considered in the differential diagnosis of fever of unknown origin. Early diagnosis is often difficult since it is a diagnosis of exclusion and the presence of infectious, neoplastic and autoimmune conditions needs to be ruled out before the diagnosis is made. No specific laboratory tests are available to aid in the diagnosis of AOSD. As a result, a set of diagnostic criteria that define the clinical features of this condition, termed the Yamaguchi criteria, have been most commonly used to establish the diagnosis. We describe the case of a 72-year-old Caucasian male with past medical history significant for generalized anxiety disorder, depression, BPH, and hypertriglyceridemia, who presented to a tertiary institution complaining of profound generalized weakness and weight loss that started three weeks prior to presentation. Initial laboratory studies showed leukocytosis, elevated ESR, CRP, ferritin and liver dysfunction. Cultures, ANA and rheumatoid factor studies were negative. The patient underwent further extensive workup that excluded the presence of infectious, neoplastic and autoimmune disorders and was subsequently diagnosed with AOSD and new onset diabetes mellitus. For the management of AOSD he was started on prednisone with significant improvement in markers of inflammation, symptoms and level of function.

Rare lung cancers

International Nuclear Information System (INIS)

Berzinec, P.

2013-01-01

The RARECARE Project (Rare Cancers in the Europe) supported by the European Union defined the rare cancers by the incidence rate of less than 6/100 000. There are several variants of lung cancer which are rare according to this definition. From the clinical point of view the most interesting are the rare adenocarcinomas and large cell neuroendocrine carcinoma. There are important differences in the diagnostic probability of EGFR and ALK mutations in the mutinous and non-mucin ous adenocarcinomas, in the signet ring cell adenocarcinomas, and large cell carcinomas. The optimal chemotherapy for neuroendocrine large cell carcinomas remains undefined. There is only very limited number of clinical trials aimed on the rare lung cancers and actually none phase III trial. Rare lung cancers continue to be a challenge both for the laboratory and the clinical research. (author)

An extremely rare clinical entity: congenitally corrected transposition with situs ınversus and single coronary artery presented with complete atrioventricular block in a young man.

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Cirakoglu, Omer Faruk; Bayraktar, Ali; Sayin, Muhammet Rasit

2018-05-01

Congenitally corrected transposition of the great arteries is a rare form of CHD. Situs inversus is a much less common variant of a congenitally corrected transposition of the great arteries. In rare cases, transposition events may be accompanied by various cardiac anomalies. However, situs inversus patients with congenitally corrected transposition, single coronary artery anomaly, and atrioventricular block together have not been reported previously. This combination of abnormalities is presented as a first in the literature.

Dermatomyositis, clinically presenting with cutaneous ulcers, with histopathologic evidence of perforating collagenosis.

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Rosenstein, Rachel; Martires, Kathryn; Christman, Mitalee; Terushkin, Vitaly; Meehan, Shane A; Seminara, Nicole; Golden, Brian D; Franks, Andrew G

2016-12-15

Dermatomyositis is a systemic, autoimmune diseasewith a variety of clinical features that often includemyositis and characteristic cutaneous findings. Asubset of patients with dermatomyositis developcutaneous ulcers, often in the setting of vasculitis orvasculopathy. We present a case of dermatomyositiswith cutaneous ulcers that show perforatingcollagenosis on histopathologic examination.Acquired reactive perforating collagenosistypically occurs in the setting of diabetes mellitus,chronic renal failure, and other pruritic conditions,and this case represents a rare association withdermatomyositis, which may ultimately be helpful inelucidating the pathophysiology of this perforatingdisorder.

Multifocal bilateral metatarsal tuberculosis: a rare presentation.

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Vijay, Vipul; Sud, Alok; Mehtani, Anil

2015-01-01

Tuberculosis, or phthisis (consumption) as it was popularly known in the Greek era, has been endemic in Southeast Asia and Sub-Saharan Africa; however, the human immunodeficiency virus epidemic has seen the re-emergence of this disease in the areas in which it was not very commonly reported. With this, the need for understanding and treatment of rare presentations of tuberculosis has become of paramount importance to achieve the World Health Organization millennium goal of a "reversal of incidence by 2015." Foot involvement has been reported in 0.1% to 0.3% of extrapulmonary cases. Multifocal lesions have an incidence of histopathologic owing to the paucibacillary nature of the disease. Early identification and treatment with antitubercular drugs will normally result in a good cosmetic and functional result. Copyright © 2015 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

Acute upper arm ischaemia: a rare presentation of non-Hodgkin's lymphoma.

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Daruwalla, Z J

2010-12-01

Digital ischaemia has been sparsely reported in current literature. Its association with lymphomatous conditions has been described in even more exceptional occurrences. We present the first case of upper arm ischaemia associated with non-Hodgkin\\'s lymphoma. A brief literature review of this rare phenomenon is also accompanied with it.

Intestinal Duplication Cyst presenting as Volvulus: A rare case report with Review of Literatures

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Prasan Kumar Hota

2015-03-01

Full Text Available Intestinal duplication cyst is a rare congenital anomaly occurring any where along the alimentary tract, from mouth to anus. They can present with numerous complications like perforation, bleeding or intestinal obstruction. We report a rare case  of intestinal duplication cyst of ileum with acute intestinal obstruction due to volvulus with review of literature.

Thyrotoxic crisis presenting with jaundice.

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Wickramasinghe, R D S S; Luke, W A N V; Sebastiampillai, B S; Gunathilake, M P M L; Premaratna, R

2016-06-23

Thyrotoxic crisis is a medical emergency requiring early diagnosis and urgent management, which can be challenging due to its diverse clinical presentations. While common presentations include fever, sweating, palpitations, tremors and confusion, presence of jaundice is rare. We report a 35-year-old male who presented with jaundice due to cholestasis along with other features of thyrotoxic crisis due to Graves' disease. He had a good clinical recovery with resolution of cholestasis following treatment for thyrotoxic crisis. Jaundice can be a rare manifestation of thyrotoxic crisis, and should be considered in the differential diagnosis when other clinical features of thyrotoxic crisis are present. However secondary causes of jaundice should be looked into and excluded.

Primary Peritoneal Hydatid Cyst Presenting as Ovarian Cyst Torsion: A Rare Case Report

OpenAIRE

Gandhiraman, Kavitha; Balakrishnan, Renukadevi; Ramamoorthy, Rathna; Rajeshwari, Raja

2015-01-01

Hydatid cyst disease is a zoonotic disease caused by Echinococcus granulosus, E.multilocularis or E.Vogli. The most common primary site is liver (75%) followed by lungs (5-15%) and other organs constitute 10-20%. Peritoneal hydatid cysts are very rare especially primary peritoneal hydatid. Secondary peritoneal hydatid cysts are relatively common, which usually occurs due to rupture of primary hepatic hydatid cyst. We present a rare case of large primary peritoneal hydatid cyst misdiagnosed as...

A Rare Presentation of Lymphoma of the Cervix with Cross-Sectional Imaging Correlation

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Brinda Rao Korivi

2014-01-01

Full Text Available Non-Hodgkin’s lymphoma of the cervix is an extremely uncommon entity, with no standard established treatment protocol. A 43-year-old asymptomatic female with a history of dual hit blastic B-cell lymphoma/leukemia in complete remission presented with an incidental cervical mass, which was initially felt to represent a cervical fibroid on computed tomography (CT. It was further evaluated with ultrasound, biopsy, and positron emission tomography-computed tomography (PET-CT, which demonstrated a growing biopsy-proven lymphomatous mass and new humeral head lesion. The patient was started on chemotherapy to control the newly diagnosed humeral head lesion, which then regressed. She then underwent radiation to the cervix with significant improvement in the cervical lymphoma. A review of cross-sectional imaging findings of lymphoma of the cervix is provided, including how to differentiate it from other more common diseases of the cervix. Clinical awareness of rare cervical masses such as lymphoma is very important in order to achieve timely diagnosis and appropriate treatment.

Rare presentation of a testicular angiofibroma treated with testis sparing surgery.

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Leone, Luca; Fulvi, Paola; Sbrollini, Giulia; Filosa, Alessandra; Caraceni, Enrico; Marronaro, Angelo; Galosi, Andrea B

2016-12-30

Testicular benign tumors are very rare (< 5%). Testicular Angiofibroma (AF) is one of those, however the gold standard of treatment and follow-up is still unclear. A 47 years-old man with only one functioning testis was referred to our clinic for a palpable right testicular mass and atrophic contralateral testis. Patient underwent testis-sparing surgery with inguinal approach and intraoperative frozen sections examination with diagnosis of AF. Final histology confirmed AF. Post-operative follow-up was uneventful. Clinical and ultrasonographic follow-up was negative after 8 months. We report a conservative surgery in a patient with AF of the solitary testis. AF is a benign para-testicular fibrous neoplasm that could be misinterpreted as malignant tumor and treated with orchiectomy. Testis-sparing surgery is recommended in this case with intraoperative pathological examination. The excision of the mass is enough but in front of a possible recurrence a long follow-up is advisable.

Rare presentation of a testicular angiofibroma treated with testis sparing surgery

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Luca Leone

2016-12-01

Full Text Available Introduction: Testicular benign tumors are very rare (< 5%. Testicular Angiofibroma (AF is one of those, however the gold standard of treatment and follow-up is still unclear. Case report: A 47 years-old man with only one functioning testis was referred to our clinic for a palpable right testicular mass and atrophic contralateral testis. Patient underwent testis-sparing surgery with inguinal approach and intraoperative frozen sections examination with diagnosis of AF. Final histology confirmed AF. Post-operative follow-up was uneventful. Clinical and ultrasonographic follow-up was negative after 8 months. Conclusion: We report a conservative surgery in a patient with AF of the solitary testis. AF is a benign para-testicular fibrous neoplasm that could be misinterpreted as malignant tumor and treated with orchiectomy. Testis-sparing surgery is recommended in this case with intraoperative pathological examination. The excision of the mass is enough but in front of a possible recurrence a long follow-up is advisable.

A Rare Disorder with Common Clinical Presentation: Neonatal Bartter Syndrome.

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Hussain, Shabbir; Tarar, Saba Haider; Al-Muhaizae, Muhammad

2015-04-01

Bartter syndrome is an autosomal recessive renal tubulopathy that presents with hypokalemic, hypochloremic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninemia and hyperaldosteronemia but normotension. A full term male neonate was referred at 20-day of age with features of sepsis and respiratory distress. He was evaluated and managed as case of septicemia with all supportive paraphernalia including mechanical ventilation. Investigations revealed electrolytes imbalance and metabolic alkalosis suggestive of Neonatal Bartter Syndrome (NBS). Raised aldosterone and renin levels confirmed the diagnosis. Electrolyte imbalance was corrected with fluids and indomethacin, treated successfully, discharged and parents counseled. He was thriving well at 9 months of age. Another 2 months old male baby presented with recurrent episodes of lethargy with dehydration and failure to gain weight. Investigations confirmed the diagnosis of NBS. He was also successfully treated with same medication. We report these 2 cases because of the rarity of NBS, presentation of which may mimic common illnesses like sepsis and gastroenteritis.

Calcifying epithelial odontogenic tumor, a rare presentation in children: Two case reports

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Susant Mohanty

2014-01-01

Full Text Available Calcifying epithelial odontogenic tumor (CEOT is a rare and benign odontogenic neoplasm that affects the jaws. It is certainly an atypical instance to find this tumor in children. Here, we present two case reports of CEOT presenting in mandible of a 12- and 13-year-old female child, respectively. CEOT have been reported to show features of malignant transformation also.

Present Status of Inclusive Rare $B$ Decays

CERN Document Server

Hurth, Tobias

2003-01-01

We give a status report on inclusive rare B decays, highlighting recent developments and open problems. We focus on the decay modes $B \\to X_{s,d} \\gamma$, $ B \\to X_s \\ell^+\\ell^-$ and $B \\to X_s \

Adult primary hypoparathyroidism: A rare presentation

OpenAIRE

Chakrabarty, Ashima Datey

2013-01-01

The common causes of stridor in adults are abscesses or swelling of upper airway, tumors, paralysis or malfunction of vocal cords. Laryngospasm due to hypocalcemia is a rare cause of stridor in adults, although occasionally reported in the neonates. We report an elderly lady having stridor and laryngospasm, secondary to acquired hypoparathyroidism and secondary hypocalcemia, without risk factors for hypoparathyroidism such as recent neck surgery or irradiation. We did an extensive review of l...

Drugs for rare disorders.

Science.gov (United States)

Cremers, Serge; Aronson, Jeffrey K

2017-08-01

Estimates of the frequencies of rare disorders vary from country to country; the global average defined prevalence is 40 per 100 000 (0.04%). Some occur in only one or a few patients. However, collectively rare disorders are fairly common, affecting 6-8% of the US population, or about 30 million people, and a similar number in the European Union. Most of them affect children and most are genetically determined. Diagnosis can be difficult, partly because of variable presentations and partly because few clinicians have experience of individual rare disorders, although they may be assisted by searching databases. Relatively few rare disorders have specific pharmacological treatments (so-called orphan drugs), partly because of difficulties in designing trials large enough to determine benefits and harms alike. Incentives have been introduced to encourage the development of orphan drugs, including tax credits and research aids, simplification of marketing authorization procedures and exemption from fees, and extended market exclusivity. Consequently, the number of applications for orphan drugs has grown, as have the costs of using them, so much so that treatments may not be cost-effective. It has therefore been suggested that not-for-profit organizations that are socially motivated to reduce those costs should be tasked with producing them. A growing role for patient organizations, improved clinical and translational infrastructures, and developments in genetics have also contributed to successful drug development. The translational discipline of clinical pharmacology is an essential component in drug development, including orphan drugs. Clinical pharmacologists, skilled in basic pharmacology and its links to clinical medicine, can be involved at all stages. They can contribute to the delineation of genetic factors that determine clinical outcomes of pharmacological interventions, develop biomarkers, design and perform clinical trials, assist regulatory decision

The present status of rare gas release control

International Nuclear Information System (INIS)

Yamamoto, Hiroshi

1974-01-01

Of the rare gases Ar, Kr and Xe released from nuclear facilities, the problem of release control can be confined to 41 Ar, 85 Kr and 133 Xe. The cases of the latter two are described, as 41 Ar is not much significant. 133 Xe, having relatively short half-life, can be dealt sufficiently by holding-up in case of light water reactors. 85 Kr of long half-life must be removed : the methods are low temperature adsorption, liquefaction distillation, absorption and diaphragm method. As for future problem, there is disposal of concentrated rare gas. (Mori, K.)

Pattern of clinical features in patients with hypothyroidism presenting to Khartoum hospital

International Nuclear Information System (INIS)

Mohamed, Salwa Babiker

1999-01-01

Objectives: to determine the pattern of clinical manifestations in patients with hypothyroidism and to document the clinical state, the laboratory findings and the effect of therapy on those who restrict themselves to the long term medication and follow up. Design: a prospective study on all patients in whom a clinical suspicious of being hypothyroidism,this was during a period from the first of june 1997 to the end of december 1998 (18 months). Subjects: the study population comprised two groups of patients: a) patients presenting for the first time (n:20). b) patients previously known to be hypothyroidism but stopped the medication for a while from 6 months up to one year or more (n:16). Methods: data was collected through a questionnaire detailing the medical history, medical examination and the laboratory investigations which were performed. Results: hypothyroidism is a disease of female although it's rare but can be encountered, the diagnosis is delayed because of the wide range of symptoms, the commonest were fatigue (88.9%), myalgia (75%), hoarseness of voice (72.2%), dry skin (63.9%), these patients may present with constipation (44.4%) or to the gyne because of menorrhagia (47.2%),or to the psychiatry because of change in mood (41.7%) signs such as delayed relaxation of the knee jerk (83.3%),proximal myopathy (38.9%), perorbital swelling (50%) or loss of eye brows (27.8%) can help in the diagnosis. Conclusion: hypothyroidism is rare in the Sudan, for the diagnosis not to be delayed one should be familiar with the different manifestations in order to be able to elicit appropriate signs. The treatment is satisfactory, responsive to thyroxine which should be life long therapy

Idiopathic granulomatous mastitis: a heterogeneous disease with variable clinical presentation.

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Baslaim, Muna M; Khayat, Hind A; Al-Amoudi, Shefaa A

2007-08-01

Idiopathic granulomatous mastitis (IGM) is a rare benign inflammatory breast disease that presents with variable local manifestations. We describe here the different management protocols based on the clinical presentation of these patients. A retrospective review of 20 histopathologic confirmed cases of IGM seen over a period of 10 years was performed. The median age was 34 years (age range: 21-45 years). All were married, parous with history of breast feeding. Ill-defined mass mimicking carcinoma was the commonest presentation (70%); however, with the presence of signs of inflammation like pain (55%), redness (40%), and peau d'orange (40%), an inflammatory process appeared more likely. Axillary lymph node enlargement was infrequently seen (40%). Radiologic findings (mammography and ultrasound) were nonspecific. Histopathology showed the characteristic lobular distribution of granulomatous inflammation in all cases. Surgically, 7 patients had abscess drainage with open biopsy, and 7 patients had lumpectomy. Six patients with diffuse breast involvement were diagnosed by core needle biopsy only. Microbial cultures showed no growth. Antibiotics were given empirically when signs of inflammation where present. Two patients needed further abscess drainage followed by persistent sinus excision 3-6 weeks later. The median follow-up was 24 months (range: 15-42 months). Seventeen patients (85%) were recurrence-free, and 3 patients (15%) were lost to follow-up. Management of IGM cases needs to be tailored according to the clinical presentation. Precise radiologic and pathologic data interpretation by a multidisciplinary breast team will facilitate diagnosis and minimize unnecessary intervention.

A young diabetic with suicidal risk: Rare disease with a rarer presentation

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Rajeev Philip

2013-01-01

Full Text Available Rare genetic or inherited forms of diabetes can mimic immune mediated type 1 diabetes. Early age of onset and associated features help to differentiate these diseases from type 1 diabetes. Wolfram syndrome, an inherited neuro degenerative disorder, presents as insulin dependent diabetes mellitus, diabetes insipidus, optic atrophy and deafness. But less well described features like psychiatric manifestations can be the presentation of this disease. We present such a case. Wolfram syndrome should be considered as a differential diagnosis in insulin dependent diabetic children who present with neuropsychiatric problems.

Factor xiii deficiency in children-clinical presentation and outcome

International Nuclear Information System (INIS)

Fadoo, Z.; Saleem, A.F.

2008-01-01

To determine the demographic features and clinical outcome of children with Factor XIII deficiency. Records of all hospitalized pediatric patients with discharge diagnosis of FXIII D, on the basis of factor XIII assay 5 mol/L urea test were retrospectively reviewed and abstracted on a pre-specified proforma. Demographic features, coagulation profile, family history and outcomes were noted. A total of 10 charts were reviewed. There were 5 boys and 5 girls. Almost all the children (9/10) were less than 5 years of age, out of whom 5 (50%) were infants, and 3 were neonates. Bruises and prolonged bleeding after trauma was the major presenting complaints in 80%, followed by prolonged bleeding from the umbilical stump in 2 patients. Nine patients had past history of prolonged umbilical bleeding. Two patients had history of FXIII D in siblings, while 2 had history of prolonged bleeding in other family members (cause unknown). Consanguinity was present in 80% of the families. Initial coagulation screen were normal in all patients. Two patients had intracranial hemorrhage, proved on neuro-imaging, were managed with plasma infusions and required craniotomy. The rest were managed conservatively with plasma transfusions. All were discharged alive in good clinical condition. Almost all were followed regularly in clinic with monthly cryoprecipitate transfusions. Although factor XIII deficiency is a rare genetic disorder in children with history of bruising, prolonged umbilical bleeding, family history of bleeding and consanguinity with normal initial coagulation screen (PT, APTT and platelets), FXIII D should be ruled out. (author)

A rare nonsyndromic presentation of bilateral doughnut shaped lip pits in an Indian child

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Senthil Balasubramani

2016-01-01

Full Text Available Lip pits are a rare congenital anomaly that presents on the upper or lower lip or the commissure of the lips. Lip pits are an autosomal dominant trait occurring almost always in association with cleft lip or palate. They most commonly occur in association with developmental disturbances such as Van der Woude's syndrome, popliteal pterygium syndrome, oro-facial-digital syndrome, Marres-Cremers syndrome, and Hirschsprung disease. Its occurrence in nonsyndromic individuals is extremely rare with only a handful of cases reported. The identification of lip pits with other associated anomalies is crucial for genetic counseling; we report a case of nonsyndromic presentation of bilateral lip pits.

Ulcerative giant solitary trichoepithelioma of scalp: a rare presentation

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Sundeep Chowdhry

2016-07-01

Full Text Available Trichoepithelioma is a trichogenic tumor which arises from the inferior segment of hair follicle epithelium as hamartoma. Giant solitary trichoepithelioma (GST has been defined as a solitary trichoepithelioma with a diameter greater than 2 cm. A 49-year-old female presented with a slow growing skin coloured swelling on the scalp of 8 years duration with recent history of ulceration and occasional bleeding. The local examination revealed a single well defined nodular swelling which was irregular in shape measuring approximately 2 × 2.5 cm. Histopathology from biopsy specimen revealed dark basaloid cells with scanty cytoplasm and darkly stained nucleus arranged in nests with horn cysts lacking high-grade atypia and mitosis, which was consistent with features of trichoepithelioma. Giant solitary trichoepithelioma of scalp is itself a rare entity and the present case is being reported with the additional component of ulceration in the lesion.

Dioctophymiasis: A Rare Case Report.

Science.gov (United States)

Chauhan, Sapna; Kaval, Sunil; Tewari, Swati

2016-02-01

Dioctophyma renale commonly known as "giant kidney worm' is found in the kidney of carnivorous mammals. Human infestation is rare, but results in destruction of the kidneys. Very few cases have been reported worldwide. We are here reporting a case of Dioctophymiasis in a 35-year-old male patient who presented with retention of urine and subsequent passage of worm and blood in urine. The worm was confirmed as Dioctophyma renale based on its morphology and clinical presentation. This is a very rare case report and to best of our knowledge only two cases have been reported from India.

Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease

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Moldovan Laura

2010-10-01

Full Text Available Abstract Background Computer-based teaching (CBT is a well-known educational device, but it has never been applied systematically to the teaching of a complex, rare, genetic disease, such as Hunter disease (MPS II. Aim To develop interactive teaching software functioning as a virtual clinic for the management of MPS II. Implementation and Results The Hunter disease eClinic, a self-training, user-friendly educational software program, available at the Lysosomal Storage Research Group (http://www.lysosomalstorageresearch.ca, was developed using the Adobe Flash multimedia platform. It was designed to function both to provide a realistic, interactive virtual clinic and instantaneous access to supporting literature on Hunter disease. The Hunter disease eClinic consists of an eBook and an eClinic. The eClinic is the interactive virtual clinic component of the software. Within an environment resembling a real clinic, the trainee is instructed to perform a medical history, to examine the patient, and to order appropriate investigation. The program provides clinical data derived from the management of actual patients with Hunter disease. The eBook provides instantaneous, electronic access to a vast collection of reference information to provide detailed background clinical and basic science, including relevant biochemistry, physiology, and genetics. In the eClinic, the trainee is presented with quizzes designed to provide immediate feedback on both trainee effectiveness and efficiency. User feedback on the merits of the program was collected at several seminars and formal clinical rounds at several medical centres, primarily in Canada. In addition, online usage statistics were documented for a 2-year period. Feedback was consistently positive and confirmed the practical benefit of the program. The online English-language version is accessed daily by users from all over the world; a Japanese translation of the program is also available. Conclusions The

Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease.

Science.gov (United States)

Al-Jasmi, Fatma; Moldovan, Laura; Clarke, Joe T R

2010-10-25

Computer-based teaching (CBT) is a well-known educational device, but it has never been applied systematically to the teaching of a complex, rare, genetic disease, such as Hunter disease (MPS II). To develop interactive teaching software functioning as a virtual clinic for the management of MPS II. The Hunter disease eClinic, a self-training, user-friendly educational software program, available at the Lysosomal Storage Research Group (http://www.lysosomalstorageresearch.ca), was developed using the Adobe Flash multimedia platform. It was designed to function both to provide a realistic, interactive virtual clinic and instantaneous access to supporting literature on Hunter disease. The Hunter disease eClinic consists of an eBook and an eClinic. The eClinic is the interactive virtual clinic component of the software. Within an environment resembling a real clinic, the trainee is instructed to perform a medical history, to examine the patient, and to order appropriate investigation. The program provides clinical data derived from the management of actual patients with Hunter disease. The eBook provides instantaneous, electronic access to a vast collection of reference information to provide detailed background clinical and basic science, including relevant biochemistry, physiology, and genetics. In the eClinic, the trainee is presented with quizzes designed to provide immediate feedback on both trainee effectiveness and efficiency. User feedback on the merits of the program was collected at several seminars and formal clinical rounds at several medical centres, primarily in Canada. In addition, online usage statistics were documented for a 2-year period. Feedback was consistently positive and confirmed the practical benefit of the program. The online English-language version is accessed daily by users from all over the world; a Japanese translation of the program is also available. The Hunter disease eClinic employs a CBT model providing the trainee with realistic

Fifth Ovarian Cancer Consensus Conference of the Gynecologic Cancer InterGroup (GCIG): clinical trial design for rare ovarian tumours

NARCIS (Netherlands)

Leary, A. F.; Quinn, M.; Fujiwara, K.; Coleman, R. L.; Kohn, E.; Sugiyama, T.; Glasspool, R.; Ray-Coquard, I.; Colombo, N.; Bacon, M.; Zeimet, A.; Westermann, A.; Gomez-Garcia, E.; Provencher, D.; Welch, S.; Small, W.; Millan, D.; Okamoto, A.; Stuart, G.; Ochiai, K.

2017-01-01

This manuscript reports the consensus statements on designing clinical trials in rare ovarian tumours reached at the fifth Ovarian Cancer Consensus Conference (OCCC) held in Tokyo, November 2015. Three important questions were identified concerning rare ovarian tumours (rare epithelial ovarian

Hepatogastric fistula: A rare complication of liver abscess

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Shrihari Anikhindi

2015-01-01

Full Text Available Rupture of amebic liver abscess into stomach is a rare complication. We report a case of a young male presenting with haematemesis due to a rupture of left lobe amebic liver abscess into stomach. We discuss the diagnosis and management of this rare clinical entity.

Chondroectodermal dysplasia: a rare syndrome.

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Dana Tahririan

2014-06-01

Full Text Available Chondroectodermal dysplasia (Ellis-Van Creveld syndrome is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.

Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report

Science.gov (United States)

Acharya, Sonu; Panda, Swagatika; Sahoo, Sujit Ranjan; Ray, Prayas

2013-01-01

ABSTRACT Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212. PMID:25206225

Unusual Clinical Presentation of a Rare Type of Breast Malignancy: A Case Report and a Short Review of Literature

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Nadeesha J Nawarathna

2015-01-01

Full Text Available Primary extra osseous osteogenic sarcoma is one of the rarest forms of malignant tumor of the breast. It can arise as a result of osseous metaplasia of a preexisting neoplasm or from a none-phyllodes sarcoma of a previously normal breast. Due to its rarity, natural history and optimal treatment methods remain unclear. A 60-year-old patient presented to the surgical casualty ward with large breast abscess. Abscess wall histology revealed an osteosarcoma of the breast. Left total mastectomy with axillary clearance was performed. Histology and subsequent imunohistochemical studies confirmed the diagnosis of osteogenic sarcoma without lymph nodal metastasis. The patient was referred to the oncologist for further management. Rare types of breast tumors could present as breast abscess. Incision and drainage, together with wall biopsy, helped to exclude associated sinister pathologies. Diagnosis of primary osteosarcoma of the breast was made using histological and immunohistochemical findings once the possible primary from the sternum and ribs were excluded. Treatment was similar to sarcomas affecting other locations and should comprise a multidisciplinary approach.

Holt-Oram Syndrome in Adult Presenting with Heart Failure: A Rare Presentation

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Rupesh Kumar

2014-01-01

Full Text Available Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart. The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects. Congenital cardiac and upper-limb malformations frequently occur together and are classified as heart-hand syndromes. The most common amongst the heart-hand disorders is the Holt-Oram syndrome, which is characterized by septal defects of the heart and preaxial radial ray abnormalities. Its incidence is one in 100,000 live births. Approximately three out of four patients have some cardiac abnormality with common associations being either an atrial septal defect or ventricular septal defect. Herein, we report a rare sporadic case of Holt-Oram syndrome with atrial septal defect with symptoms of heart failure in a forty-five-year-old lady who underwent emergency cardiac surgery for the symptoms.

Cervical Paraganglioma Mimicking Thyroid Nodule: A Rare Clinical Case

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Berna İmge Aydoğan

2016-01-01

Full Text Available Objective. Paraganglioma is a rare neuroendocrine tumor. When it is located in the neck, it is commonly misdiagnosed as other thyroid neoplasms. Case Report. We report a case of cervical paraganglioma in a 55-year-old female. Patient was admitted to our clinic with goiter and neck pain. Thyroid ultrasonography revealed a 20 mm solitary, heterogeneous nodule located in the upper pole of left thyroid lobe. Fine needle aspiration cytology was nondiagnostic. She underwent left lobectomy and histopathology showed paraganglioma. Discussion. Cervical paragangliomas should be considered in the differential diagnosis of thyroid nodules.

Occipital lobe infarction: a rare presentation of bilateral giant cavernous carotid aneurysms: a case report.

Science.gov (United States)

Vanikieti, Kavin; Poonyathalang, Anuchit; Jindahra, Panitha; Cheecharoen, Piyaphon; Chokthaweesak, Wimonwan

2018-02-02

Cavernous carotid aneurysm (CCA) represents 2-9% of all intracranial aneurysms and 15% of internal carotid artery (ICA) aneurysms; additionally, giant aneurysms are those aneurysms that are > 25 mm in size. Bilateral CCAs account for 11-29% of patients and are commonly associated with structural weaknesses in the ICA wall, secondary to systemic hypertension. CCAs are considered benign lesions, given the low risk for developing major neurologic morbidities (i.e., subarachnoid hemorrhage, cerebral infarction, or carotid cavernous fistula). Moreover, concurrent presentation with posterior circulation cerebral infarction is even rarer, given different circulation territory from CCA. Here, we report on a patient with bilateral giant CCAs who presented with both typical and atypical symptoms. An 88-year-old hypertensive woman presented with acute vertical oblique binocular diplopia, followed by complete ptosis of the right eye. Ophthalmic examination showed dysfunction of the right third, fourth, and sixth cranial nerves. Further examination revealed hypesthesia of the areas supplied by the ophthalmic (V1) and maxillary (V2) branches of the right trigeminal nerve. Bilateral giant cavernous carotid aneurysms, with a concurrent subacute right occipital lobe infarction, were discovered on brain imaging and angiogram. Additionally, a prominent right posterior communicating artery (PCOM) was revealed. Seven months later, clinical improvement with stable radiographic findings was documented without any intervention. Dysfunction of the third, fourth, and sixth cranial nerves, and the ophthalmic (V 1 ) and maxillary (V 2 ) branches of the trigeminal nerves, should necessitate brain imaging, with special attention given to the cavernous sinus. Despite unilateral symptomatic presentation, bilateral lesions cannot be excluded solely on the basis of clinical findings. CCA should be included in the differential diagnosis of cavernous sinus lesions. Although rare, ipsilateral

Role of Imaging and Cytogenetics in Evaluation of DiGeorge Syndrome - A Rare Entity in Clinical Practice.

Science.gov (United States)

Ramachandran, Rajoo; Babu, Sellappan Rajamanickam; Ilanchezhian, Subramanian; Radhakrishnan, Prabhu Radhan

2015-01-01

DiGeorge syndrome is a congenital genetic disorder that affects the endocrine system, mainly the thymus and parathyroid glands. The syndrome produces different symptoms, which vary in severity and character between patients. It manifests with craniofacial dysmorphism and defects in the heart, parathyroid, and thymus. Patients can present with a palatal deformity and nasal speech. This rare entity is caused mainly due to deletion of chromosome 22q11.2. Radiographic evaluation of DiGeorge syndrome is necessary to define aberrant anatomy, evaluate central nervous system, craniofacial abnormalities, musculoskeletal system, and cardiothoracic contents. It also helps in planning surgical procedures and surgical reconstructions. We report a case of DiGeorge syndrome in a 4-month-old neonate and discuss the clinical, imaging, and cytogenetic findings that helped in the diagnosis of this rare entity.

Nocardial mycetoma: Diverse clinical presentations

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Sharma Nand

2008-01-01

Full Text Available Nocardia spp are gram-positive, aerobic, acid-fast bacteria which exist as saprophytes in nature. Invasive disseminated infections are particularly common in immunocompromised or debilitated hosts. Superficial infections with Nocardia spp occur as a result of local trauma and contamination of the wound. Clinically, it presents as acute infection (abscesses or cellulitis, mycetoma, or sporotrichoid infection. Differential diagnosis includes eumycetoma, chromomycosis, blastomycosis, coccidioidomycosis, sporotrichosis, tuberculosis, botryomycosis, syphilis, yaws, and neoplasia. Its diagnosis is confirmed by demonstrating the causative organism in exudates (as granules, tissue specimens, or cultures. Early diagnosis will obviate need for drastic surgical measures as early institution of chemotherapy is effective in most patients. However, its diagnosis is often delayed due to diverse clinical presentations and for want of clinical suspicion, particularly in non-endemic areas. This paper presents 4 clinical forms of this not so uncommon disease, emphasizing the importance of high index of clinical suspicion, especially in non-endemic regions; and the significance of repeated examination of exudates for Nocardia granules for an early diagnosis.

Male breast cancer is rare: an initial presentation may be as an abscess

OpenAIRE

Ventham, N T; Hussien, M I

2010-01-01

Breast cancer in men is rare. Breast cancer presenting initially as an abscess has been described only a handful of times in the literature. We present the first described case of invasive adenocarcinoma presenting as an abscess in a man. An 80-year-old diabetic man presented with symptoms typical of a breast abscess. The abscess failed to respond to percutaneous therapy and excision of breast abscess was performed. Histology revealed an invasive carcinoma. He went on to have a mastectomy. Hi...

A Rare Case of Idiopathic Plastic Bronchitis

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Mohammed Raoufi

2017-01-01

Full Text Available Plastic bronchitis is a rare disorder characterized by formation of large, branching bronchial casts, which are often expectorated. We present an interesting case of a 35-year-old woman who presented for evaluation of a chronic cough productive of voluminous secretions. Clinical and radiological examination confirmed a total left lung atelectasis without any pathological mediastinal node. Flexible bronchoscopy demonstrated tenacious, thick, and sticky whitish secretions blocking the left stem bronchus. This material was extracted, and inspection demonstrated a bronchial cast, whose pathological analysis revealed necrotic epithelial cells, some eosinophils, and Charcot-Leyden crystals. Two days after bronchoscopy, the patient rejected more bronchial casts, and dyspnea improved. Control of chest x-ray revealed complete left lung aeration and the diagnosis of idiopathic plastic bronchitis was obtained. This article shows the interest in clinical practice to evoke the diagnosis of plastic bronchitis in front of a productive chronic cough. Our case illustrates a rare clinical presentation represented by an atelectasis of an entire lung.

A rare benign renal tumour presenting as polycythaemia in a teenage girl.

LENUS (Irish Health Repository)

Geoghegan, S

2010-04-01

We present the case of a 15-year-old girl who presented with polycythemia. CT abdomen revealed an enhancing mass in the upper pole of her left kidney with features suggestive of renal cell carcinoma. She underwent a laparoscopic radical nephrectomy. Histology demonstrated a well circumscribed, focally encapsulated, round blue cell tumour showing areas of microcalcifications and numerous psammoma bodies. Imunostaining showed diffuse positive staining for CD 57. This was consistent with a diagnosis of metanephric adenoma a rare benign epithelial renal tumour.

Epidermotropic presentation by splenic B-cell lymphoma: The importance of clinical-pathologic correlation.

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Hedayat, Amin A; Carter, Joi B; Lansigan, Frederick; LeBlanc, Robert E

2018-04-01

There are exceedingly rare reports of patients with epidermotropic B-cell lymphomas. A subset presented with intermittent, variably pruritic papular eruptions and involvement of their spleens, peripheral blood and bone marrow at the time of diagnosis. Furthermore, some experienced an indolent course despite dissemination of their lymphomas. We report a 66-year-old woman with a 12-year history of intermittent eruptions of non-pruritic, salmon-colored papules on her torso and proximal extremities that occurred in winter and resolved with outdoor activity in spring. Skin biopsy revealed an epidermotropic B-cell lymphoma with a non-specific B-cell phenotype and heavy chain class switching with IgG expression. On workup, our patient exhibited mild splenomegaly and low-level involvement of her peripheral blood and bone marrow by a kappa-restricted B-cell population. A splenic B-cell lymphoma was diagnosed. Considering her longstanding history and absences of cytopenias, our patient has been followed without splenectomy or systemic therapy. Furthermore, the papules have responded dramatically to narrowband UVB. Our case and a review of similar rare reports aim to raise awareness among dermatopathologists and dermatologists of a clinically distinct and indolent subset of epidermotropic splenic lymphomas with characteristic clinical and histologic findings. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Clinical and hematological presentation of children and adolescents with polycythemia vera

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McMullin, Mary Frances; Pahl, Heike L.

2014-01-01

Polycythemia vera (PV) in children and adolescents is very rare. Data on clinical and laboratory evaluations as well as on treatment modalities are sparse. Here, we report the long-term clinical course of a PV patient first diagnosed more than 40 years ago at age 12. In addition, after a systematic review of the scientific medical literature, clinical and hematological data of 35 patients (19 female and 17 male) from 25 previous reports are summarized. Three patients developed PV following antecedent hematological malignancies. Budd–Chiari syndrome was diagnosed in seven patients indicating a particular risk of young patients of developing this disorder. One patient presented with ischemic stroke, one patient with gangrene, and three patients with severe hemorrhage. Three patients died from disease-related complications. Hematocrit levels and platelet counts were not correlated with disease severity. Leukocytosis >15×109/L was present in 9/35 patients and associated with a thromboembolic or hemorrhagic complication in seven patients. The few available data on molecular genetics and endogenous erythroid colony growth indicate changes comparable to those detectable in adult patients. Treatment varied enormously. It included aspirin, phlebotomy, hydroxycarbamide, busulfan, melphalan, pyrimethamine, and interferon-alpha. Two patients successfully underwent stem cell transplantation. Currently, it is impossible to treat an individual pediatric PV patient with an evidence-based regimen. PMID:19468728

Primary hyperparathyroidism with rare presentation as multiple brown tumours

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Smit Doshi

2012-04-01

Full Text Available We present a case of primary hyperparathyroidism with an uncommon presentation as multiple brown tumours, which may easily be mistaken for a primary bone neoplasm. A brief literature review and its clinical and surgical management are also discussed here.

Encephalocele presenting as lower lid swelling: A rare case report

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Vaibhav Kumar Jain

2018-01-01

Full Text Available Encephalocele is a rare congenital abnormality characterized by abnormal protrusion of brain and meninges through an opening in the skull. We report an 8-year-old girl who presented with a swelling in the right lower lid for the last 6 years. In her infancy, she had undergone surgery for a very small swelling located in the right nasolacrimal area. On further clinicoradiological evaluation, anterior encephalocele was diagnosed. This case highlights the uncommon site of anterior encephalocele; misdiagnosis and mismanagement of which could result in dreaded complications such as meningitis and cerebrospinal fluid leaking fistula formation.

Aggressive natural killer-cell leukemia: Classical presentation of a rare disease

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Priya M Jacob

2014-01-01

Full Text Available Aggressive natural killer-cell leukaemia is a rare aggressive form of natural killer-cell neoplasm. We report a case of a 40-year-old male who presented with jaundice, raised blood counts,generalised lymphadenopathy and hepatosplenomegaly. The diagnosis was established by flow cytometric analysis of bone marrow aspirate. The patient, however, succumbed to his illness within 2 weeks of starting chemotherapy. To the best of our knowledge, this is the third reported case from India.

Rare Presentation of Prostate Cancer Mimicking Malignant Lymphoma with Generalized Lymphadenopathy

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Yu-Fen Tsai

2014-06-01

Full Text Available Prostate cancer typically metastasizes to bones and regional lymph nodes. Generalized lymphadenopathy is a rare manifestation of metastatic prostate cancer. We report a case of prostate cancer in a 65-year-old male with initial presentation of generalized lymphadenopathy and no urinary symptoms. Lymph node biopsy revealed metastatic adenocarcinoma, and immunohistochemical staining was positive for prostate-specific antigen (PSA compatible with a prostatic origin. Directed biopsy confirmed that the tumor originated in the prostate. Therefore, the prostate should be considered a possible origin of metastatic adenocarcinoma in men, and presentations consistent with generalized lymphadenopathy cannot exclude a diagnosis of prostate cancer.

Invasive lobular carcinoma: a rare presentation in the male breast.

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Melo Abreu, Elisa; Pereira, Pedro; Marques, José Carlos; Esteves, Gonçalo

2016-05-05

Breast cancer in men is uncommon, accounting for cancers. Even though lobular structures are quite infrequent in the male breast, rare cases of invasive lobular breast carcinoma have been described, representing 1-2% of all breast cancers in men. Risk factors include undescended testes, congenital inguinal hernia, orchiectomy, orchitis, testicular injury, infertility and Klinefelter's syndrome, previous thoracic radiotherapy, alterations of the oestrogen-testosterone ratio and familial history (BRCA 2 and 1). The authors present a case of a 52-year-old man with no relevant predisposing factors to breast cancer, who presented with a painless, firm nodule, fixed to the nipple on the left breast, associated with nipple retraction and ulceration, and fully characterised by mammogram and ultrasound. Histopathological and immunohistochemical analysis revealed the diagnosis of invasive lobular breast carcinoma and the patient underwent left radical mastectomy, followed by adjuvant chemotherapy, radiotherapy and hormonotherapy. A brief review of the literature is presented. 2016 BMJ Publishing Group Ltd.

Merkel Cell Carcinoma: Interdisciplinary Management of a Rare Disease

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Schneider, S.; Thurnher, D.; Erovic, B. M.

2013-01-01

The goal of this paper is to review contemporary multidisciplinary treatment with reference to Milkier cell carcinoma. Management of this rare but highly aggressive skin cancer is a complex undertaking that necessitates an understanding of its etiology, epidemiology, clinical presentation, and the coordinated work of several clinical specializations. Recent Findings. The contemporary literature employs a multidisciplinary approach to achieve the best patient's treatment. Conclusion. This paper presents an algorithm for contemporary management for the rare and aggressive Merkel cell carcinoma. Multidisciplinary approach in a tumor center provides high-quality care for patients with Merkel cell carcinoma.

Merkel Cell Carcinoma: Interdisciplinary Management of a Rare Disease

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Sven Schneider

2013-01-01

Full Text Available Background. The goal of this paper is to review contemporary multidisciplinary treatment with reference to Merkel cell carcinoma. Management of this rare but highly aggressive skin cancer is a complex undertaking that necessitates an understanding of its etiology, epidemiology, clinical presentation, and the coordinated work of several clinical specializations. Recent Findings. The contemporary literature employs a multidisciplinary approach to achieve the best patient's treatment. Conclusion. This paper presents an algorithm for contemporary management for the rare and aggressive Merkel cell carcinoma. Multidisciplinary approach in a tumor center provides high-quality care for patients with Merkel cell carcinoma.

Rare Presentation of Genitourinary Tuberculosis Masquerading as Renal Cell Carcinoma: A Histopathological Surprise

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Santosh Kumar

2014-01-01

Full Text Available Genitourinary tuberculosis (GUTB is a rare extrapulmonary manifestation of tuberculosis (TB. Various forms of presentation are described and in most cases the disease results in calcification, atrophy, or necrosis of the renal parenchyma. The kidney is not generally palpable except in cases of hydronephrosis due to an upper ureteric stricture. We present a case of GUTB presenting as inflammatory pseudotumor. This case was initially diagnosed as renal malignancy and managed accordingly. Histopathology confirmed the diagnosis of pseudotumoral renal TB.

Linear verrucous hemangioma-a rare case and dermoscopic clues to diagnosis.

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Dhanta, Aditi; Chauhan, Payal; Meena, Dilip; Hazarika, Neirita

2018-01-01

Verrucous hemangioma (VH) is a rare, congenital and localized vascular malformation, which usually presents as warty, bluish, vascular papules, plaques, or nodules, mainly on the lower extremities. Linear presentation of the disease is rare. A deep biopsy is necessary to confirm the clinical diagnosis by histopathological examination, with dermoscopy acting as a useful tool for evaluating the precise vascular structure. Here, we report on a 13-year-old female child with linear VH presenting over her foot since infancy and dermoscopic findings of VH along with the clinical-pathologic features.

Role of Imaging and Cytogenetics in Evaluation of DiGeorge Syndrome - A Rare Entity in Clinical Practice

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Rajoo Ramachandran

2015-01-01

Full Text Available DiGeorge syndrome is a congenital genetic disorder that affects the endocrine system, mainly the thymus and parathyroid glands. The syndrome produces different symptoms, which vary in severity and character between patients. It manifests with craniofacial dysmorphism and defects in the heart, parathyroid, and thymus. Patients can present with a palatal deformity and nasal speech. This rare entity is caused mainly due to deletion of chromosome 22q11.2. Radiographic evaluation of DiGeorge syndrome is necessary to define aberrant anatomy, evaluate central nervous system, craniofacial abnormalities, musculoskeletal system, and cardiothoracic contents. It also helps in planning surgical procedures and surgical reconstructions. We report a case of DiGeorge syndrome in a 4-month-old neonate and discuss the clinical, imaging, and cytogenetic findings that helped in the diagnosis of this rare entity.

Ellis–Van Creveld syndrome in siblings: A rare case report

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Sabitha Gokulraj

2016-01-01

Full Text Available Ellis–Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis–Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis–Van Creveld syndrome in siblings.

Vaginal Endosalpingiosis Case Report: A Rare Entity Presenting as Intermenstrual Bleeding

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Sara Câmara

2017-01-01

Full Text Available Endosalpingiosis is a benign and rare entity whose pathophysiology remains unknown. It has been described in pelvic organs, the abdomen, or axillar lymph nodes. Its underrecognition has occasionally led to its misinterpretation for an adenocarcinoma. This case reports the treatment and follow-up of vaginal endosalpingiosis, presenting as a vaginal polyp in a premenopausal women with intermenstrual bleeding. To our knowledge this is the first reported case of vaginal endosalpingiosis and the second mucosal localization after bladder endosalpingiosis.

An enigmatic clinical presentation of plasma cell granuloma of the oral cavity

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Pravesh Kumar Jhingta

2018-01-01

Full Text Available Plasma cell granuloma is a rare benign lesion characterized by the infiltration of plasma cells; primarily occurring in the lungs. It is also seen to occur in the brain, kidney stomach, heart, and so on but its intraoral occurrence is a rarity. This case report represents one of the uncommon locations in the oral cavity affected by plasma cell granuloma, its clinical and histological features, and establishes the differential diagnosis with other malignant or benign disease entities and planning the treatment accordingly. This report discusses the diagnostic enigma and the associated terminology of plasma cell granulomas and reinforces the need for performing biopsy and a histopathological or immune histochemical study, irrespective of the clinical features and clinical diagnosis of the lesion. In this case a 52-year-old female, presented with gingival enlargement in the mandibular anterior region, treated by excisional biopsy. Histological evaluation revealed plasma cell infiltrates in the connective tissue. The immune-histochemistry revealed kappa and lambda light chains with a polyclonal staining pattern, which confirmed the diagnosis of plasma cell granuloma.

Clinical Presentation and Diagnosis of Neuroendocrine Tumors.

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Vinik, Aaron I; Chaya, Celine

2016-02-01

Neuroendocrine tumors (NETs) are slow-growing neoplasms capable of storing and secreting different peptides and neuroamines. Some of these substances cause specific symptom complexes, whereas others are silent. They usually have episodic expression, and the diagnosis is often made at a late stage. Although considered rare, the incidence of NETs is increasing. For these reasons, a high index of suspicion is needed. In this article, the different clinical syndromes and the pathophysiology of each tumor as well as the new and emerging biochemical markers and imaging techniques that should be used to facilitate an early diagnosis, follow-up, and prognosis are reviewed. Copyright © 2016 Elsevier Inc. All rights reserved.

Bilateral Non-Hodgkin’s Lymphoma of the Temporal Bone: A Rare and Unusual Presentation

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Sanjay Vaid

2016-01-01

Full Text Available Primary lymphoma of the temporal bone is an unusual finding in clinical practice and bilateral affection is even more rare. To the best of our knowledge, there are no reports of bilateral primary temporal bone lymphoma without middle ear involvement in the English medical literature so far. We report, for the first time, a case of primary lymphoma involving both temporal bones which presented with left-sided infranuclear facial palsy. A combination of contrast enhanced magnetic resonance imaging (MRI and high resolution computed tomography (HRCT was used to characterize and to map the extent of the lesion, as well as to identify the exact site of facial nerve affection. An excision biopsy and immunohistochemistry revealed diffuse large B-cell non-Hodgkin’s lymphoma (DLBCL. Whole body fluorodeoxyglucose (FDG positron emission tomography-computed tomography study (PET-CT was performed to stage the disease. The patient was treated with chemotherapy and radiation therapy and is now on regular follow-up. The patient is alive and asymptomatic without disease progression for the last twenty months after initial diagnosis.

A rare cause of hemoptysis

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Meghan Aversa

2014-01-01

Full Text Available Angiosarcomas are rare, malignant, endothelial-cell tumors of vascular origin that can arise at any body site. They frequently metastasize to the lung, heralded by dyspnea, hemoptysis, chest pain, pneumothoraces, and diffuse pulmonary hemorrhage. However, in most cases lung metastases are discovered after the diagnosis of a primary angiosarcoma has already been established. Very rarely will an undiagnosed metastatic angiosarcoma present as diffuse pulmonary hemorrhage. We describe the case of a 59-year-old male who presented to hospital with dyspnea and hemoptysis. CT chest revealed rapidly progressing nodular changes and broncho-alveolar lavage returns were progressively bloody. Open lung wedge biopsy ultimately revealed metastatic angiosarcoma and extensive pulmonary hemorrhage. Our case highlights the key clinical, radiological, and pathological features of this rare malignancy that frequently metastasizes to the lung and reminds clinicians to consider it as a cause of hemoptysis and pulmonary hemorrhage.

Clinical presentation of thyroid cancer

International Nuclear Information System (INIS)

Samuel, A.M.; Shah, D.H.

1999-01-01

The clinical manifestation of thyroid cancer (TC) as seen at the Nuclear Medicine Department, where the patients investigated prior to diagnosis of disease are clinically suspected to harbor malignancy and mostly referred for scintigraphic investigations are presented

Spontaneous perforation of bile duct, clinical presentation, laboratory work up, treatment and outcome

International Nuclear Information System (INIS)

Malik, H.S.; Cheema, H.A.; Fayyaz, Z.; Hashmi, M.A.

2016-01-01

Spontaneous perforation of bile duct (SPBD) is a rare and often misdiagnosed entity. Though rare, it is the second most common surgical cause of jaundice in infants, after biliary atresia. This study was planned to determine the clinical presentation, study different diagnostic modalities, treatment and outcome of patients with spontaneous perforation of bile duct. Methods: This descriptive case series, comprising 22 patients with spontaneous perforation of bile duct over a period of 24 months. Clinical presentation, biochemical abnormalities, imaging details, treatment options and outcome were studied. Results: Total 22 patients (12 Males and 10 Females) between ages of 1.5-36 months were studied. Associated anatomical defects included choledochal cyst in 7 (31.8%) while acquired biliary atresia in 1 (4.5%). Elevated liver enzymes (ALT and AST) were present in 16 patients (72.7%) and 5 (22.7%) had bilirubin above 3 mg/dl. Coagulopathy was seen in 8 (36.6%) patients. Abdominal USG showed presence of ascites in all 22 (100%), hydrocele in 2 (9.0%), inguinal hernia in 1 (4.5%), choledochal cyst in 7 (31.8%) and atretic gall bladder suggestive of acquired biliary atresia in one (4.5%) patient. HIDA scan was diagnostic in all 17 (77.27%) in which it was performed. MRCP was done in 3 (13.6%) patients. Mortality frequency was 3/22 (13.6%); one died of post-surgical sepsis second one was cirrhotic at time of presentation and didnot make It. Two were lost to follow up one which died at home while we lost contact with fourth patient. Conclusion: Spontaneous perforation of bile duct can present and should be suspected as an important cause of neonatal biliary ascites or peritonitis. Most patients can be managed with intravenous antibiotics, percutaneous drainage and t-tube insertion while patients with choledochal cysts required cholecystectomy with roux en y choledochjejunostomy. Timely recognition and intervention is associated with favourable outcome. (author)

Pancreatic Tail Cancer with Sole Manifestation of Left Flank Pain: A Very Rare Presentation

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Hsing-Lin Lin

2008-06-01

Full Text Available Pancreatic cancer is sometimes called a “silent disease” because it often causes no symptoms in the early stage. The symptoms can be quite vague and various depending on the location of cancer in the pancreas. The anatomic site distribution is 78% in the head of the pancreas, 11% in the body, and 11% in the tail. Pancreatic cancer is rarely detected in the early stage, and it is very uncommon to diagnose pancreatic tail cancer during an emergency department visit. The manifestation of pancreatic tail cancer as left flank pain is very rare and has seldom been identified in the literature. We present a case of pancreatic tail cancer with the sole manifestation of dull left flank pain. Having negative findings on an ultrasound study initially, this female patient was misdiagnosed as having possible acute gastritis, urolithiasis or muscle strain after she received gastroendoscopy and colonofiberscopy. Her symptoms persisted for several months and she visited our emergency department due to an acute exacerbation of a persistent dull pain in the left flank area. Radiographic evaluation with computed tomography was performed, and pancreatic tail tumor with multiple metastases was found unexpectedly. We review the literature and discuss this rare presentation of pancreatic tail cancer.

Cyclopia: A Rare Condition with Unusual Presentation - A Case Report

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Ghassan S.A. Salama

2015-01-01

Full Text Available Introduction Cyclopia (alobar holoprosencephaly (OMIM% 236100 is a rare and lethal complex human malformation, resulting from incomplete cleavage of prosencephalon into right and left hemispheres occurring between the 18th and the 28th day of gestation. Holoprosencephaly occurs in 1/16,000 live births, and 1/250 during embryogenesis. Approximately 1.05 in 100,000 births are identified as infants with cyclopia, including stillbirths. Cyclopia typically presents with a median single eye or a partially divided eye in a single orbit, absent nose, and a proboscis above the eye. Extracranial malformations described in stillbirths with cyclopia include polydactyl, renal dysplasia, and an omphalocele. The etiology of this rare syndrome, which is incompatible with life, is still largely unknown. Most cases are sporadic. Heterogeneous risk factors have been implicated as possible causes. Case Presentation A live full-term baby with birth weight of 2900 g, product of cesarean section because of severe fetal bradycardia, was born at Prince Hashem Military Hospital – Zarqa city/Jordan. This newborn was the first baby to a non-consanguineous family, and a healthy 18-year-old mother, with no history of drug ingestion or febrile illnesses during pregnancy. Antenatal history revealed severe hydrocephalus diagnosed early by intrauterine ultrasound but the pregnancy was not terminated because of the lack of medical legitimization in the country. On examination, the newborn was found to have a dysmorphic face, with a median single eye, absence of nose, micrognathia, and a proboscis above the eye, all of which made cyclopia the possible initial diagnosis. Multiple unusual abdominal defects were present that include a huge omphalocele containing whole liver and spleen, urinary bladder extrophy, and undefined abnormal external genitalia, which called for urgent confirmation. Brain MRI was done and revealed findings consistent with alobar holoprosencephaly (cyclopia

Rare vertebral metastasis in a case of Hereditary Paraganglioma

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da Silva Manuel Eduardo

2012-09-01

Full Text Available Abstract Paragangliomas are rare tumours with a prevalence of 1/10000 to 1/30000. Tumors arising from the paraganglia are characteristically of low malignant potential. Vertebral metastases are exceedingly rare, and only isolated case reports have described them. The authors present the clinical course of a 47 years-old female patient with a familial paraganglioma [PGL] with vertebral metastastization, who underwent an intralesional tumor excision and corpectomy. Genetic screening demonstrated a new germinal frameshift mutation of the SDHB exon 6 [c.587-591DelC]. After surgery there was normalization of the analytical parameters and imagiologic screening. One year later she presented a new image in the the pedicle of T11 on the contralateral side of the surgical incision. She performed 2 treatments with MIBG and 1 cicle of radiotherapy that made the new lesion regress. Currently the patient does not present any clinical or analytical evidence of new metastasis. This case outlines the clinical course of a patient with a PGL syndrome for whom a rare vertebral metastasis was diagnosed. It highlights the importance of identifying patients with germline SDHB mutations, as these patients are at a high risk of developing malignant disease.

Changing clinical presentation of angiosarcomas after breast cancer: from late tumors in edematous arms to earlier tumors on the thoracic wall

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Styring, Emelie; Fernebro, Josefin; Jönsson, Per-Ebbe

2010-01-01

Angiosarcoma is a rare complication of breast cancer treatment. In order to define predictors, clinical presentation, and outcome, we characterized a population-based 50-year cohort of angiosarcomas after breast cancer. Clinical data were collected from all females with previous breast cancer who...... 7.3 years. The clinical presentations were heterogeneous and included hematoma-like lesions, multiple bluish-reddish nodules, and asymptomatic lumps. The overall 5-year survival was 16%. In this population-based cohort, the early angiosarcomas developed in edematous arms after radical mastectomies......, whereas more recent cases occurred after a shorter time period in the irradiated fields following breast conserving surgery. We conclude that the clinical presentation of angiosarcomas has changed, parallel with altered treatment principles for breast cancer....

Gastric Volvulus and Wandering Spleen: A Rare Surgical Emergency

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Georgios Lianos

2013-01-01

Full Text Available Gastric volvulus is a rare but potentially life-threatening clinical entity due to possible gastric necrosis. A wandering spleen may also be associated with gastric volvulus. Patients presenting with the triad epigastralgia, vomiting followed by retching, and difficulty or inability to pass a nasogastric tube into the stomach are likely to have gastric volvulus. The operating surgeon should include this rare entity in the differential diagnosis when dealing with a patient with such a clinical profile. Herein, we present a case of gastric volvulus associated with a wandering spleen in a 28-year-old Caucasian woman and we provide a brief review of the literature on this issue.

Glial heterotopia of the lip: A rare presentation.

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Dadaci, Mehmet; Bayram, Fazli Cengiz; Ince, Bilsev; Bilgen, Fatma

2016-01-01

Glial heterotopia represents collections of normal glial tissue in an abnormal location distant to the central nervous system or spinal canal with no intracranial connectivity. Nasal gliomas are non-neoplastic midline tumours, with limited growth potential and no similarity to the central nervous system gliomas. The nose and the nasopharynx are the most common sites of location. Existence of glial heterotopia in the lip region is a rare developmental disorder. We report a case of large glial heterotopia in the upper lip region in a full-term female newborn which had intracranial extension with a fibrotic band. After the surgery, there was no recurrence in the follow-up period of 3 years. When glial heterotopia, which is a rare midline anomaly, is suspected, possible intracranial connection and properties of the mass should be evaluated by magnetic resonance imaging. By this way, lower complication rate and better aesthetic results can be achieved with early diagnosis and proper surgery.

Glial heterotopia of the lip: A rare presentation

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Mehmet Dadaci

2016-01-01

Full Text Available Glial heterotopia represents collections of normal glial tissue in an abnormal location distant to the central nervous system or spinal canal with no intracranial connectivity. Nasal gliomas are non-neoplastic midline tumours, with limited growth potential and no similarity to the central nervous system gliomas. The nose and the nasopharynx are the most common sites of location. Existence of glial heterotopia in the lip region is a rare developmental disorder. We report a case of large glial heterotopia in the upper lip region in a full-term female newborn which had intracranial extension with a fibrotic band. After the surgery, there was no recurrence in the follow-up period of 3 years. When glial heterotopia, which is a rare midline anomaly, is suspected, possible intracranial connection and properties of the mass should be evaluated by magnetic resonance imaging. By this way, lower complication rate and better aesthetic results can be achieved with early diagnosis and proper surgery.

Verrucous carcinoma of the hand: a rare presentation evaluated by magnetic resonance imaging

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Lopes, Jailson Rodrigues; Rosemberg, Laercio Alberto; Lourenco, Rafael Burgomeister; Cerri, Giovanni Guido [Universidade de Sao Paulo (InRad/HC/USP), SP (Brazil). Hospital das Clinicas. Inst. de Radiologia; Rodrigues, Marcelo Bordalo [Universidade de Sao Paulo (IOT/HC/USP), SP (Brazil). Hospital das Clinicas. Instituto de Ortopedia e Traumatologia

2011-07-15

Verrucous carcinoma is a variant of squamous cell carcinoma seen in mucous membranes and skin, and rarely found in the hand. The present report describes a case of two lesions on the dorsum of the hand, with no contact to each other, which underwent en-block resection and were confirmed as verrucous carcinoma. (author)

Verrucous carcinoma of the hand: a rare presentation evaluated by magnetic resonance imaging

International Nuclear Information System (INIS)

Lopes, Jailson Rodrigues; Rosemberg, Laercio Alberto; Lourenco, Rafael Burgomeister; Cerri, Giovanni Guido; Rodrigues, Marcelo Bordalo

2011-01-01

Verrucous carcinoma is a variant of squamous cell carcinoma seen in mucous membranes and skin, and rarely found in the hand. The present report describes a case of two lesions on the dorsum of the hand, with no contact to each other, which underwent en-block resection and were confirmed as verrucous carcinoma. (author)

Aggressive Digital Papillary Adenocarcinoma in a Young Female-a Rare Presentation.

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Gole, Gautam Nandkumar; Tati, Shekhar Y; Deshpande, Ashok Kumar; Gole, Sheetal G

2011-06-01

A 20 year old female presented with a recurrent soft tissue swelling over the medial aspect of proximal phalanx of left little finger. It had recurred one year after excision. There was no lymphadenopathy or bony involvement. Previous histopathology reports were not available. After excision histopathological diagnosis was aggressive digital papillary adenocarcinoma. Later Ray's amputation of little finger was planned. Aggressive digital papillary adenocarcinomas are rare sweat gland tumors which occur on hands, fingers, and toes. They have high local recurrence rate and may metastasize to lungs and lymph nodes.

The double auditory meatus--a rare first branchial cleft anomaly: clinical presentation and treatment.

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Stokroos, R J; Manni, J J

2000-11-01

To discuss the embryology, classification, clinical experience with, and management of first branchial cleft anomalies. Retrospective case review. Tertiary referral center. Patients with a first branchial cleft anomaly. Surgery or revision surgery. Classifications according to Work, Olsen, Chilla; previous diagnostic and therapeutic pitfalls; outcome of intervention (including facial nerve function). Between 1984 and 1999, first branchial cleft anomalies were diagnosed in 18 patients. Surgical treatment was the treatment of choice. The authors' approach in Work type I and type 2 lesions is described, and surgical aspects of revision surgery are discussed. The importance of early establishment of the relationship of the anomaly to the facial nerve is stressed. In 8 patients, previous surgical attempts had been undertaken without establishment of the diagnosis first. After intervention, the outcome was favorable. First branchial cleft anomalies occur sporadically in ordinary clinical practice. They may go unrecognized or may be mistaken for tumors or other inflammatory lesions of in the periauricular region. However, the distinct clinical features, which can be derived from embryologic development, usually lead to the correct diagnosis. This avoids both treatment delay and eventual failure.

Clinical presentation of familial exudative vitreoretinopathy.

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Ranchod, Tushar M; Ho, Lawrence Y; Drenser, Kimberly A; Capone, Antonio; Trese, Michael T

2011-10-01

To describe the clinical characteristics, staging and presentation of patients with familial exudative vitreoretinopathy (FEVR) in our clinical practice over the last 25 years. Case series, retrospective review. We included 273 eyes of 145 patients. Data collected from charts included gender, gestational age at birth, birthweight, age at presentation, referring diagnosis, family history, prior ocular surgery, and clinical presentation in each eye. Eyes with invasive posterior segment procedures before initial presentation were excluded. Demographics on presentation and clinical staging. Patients were slightly male predominant (57%) with a mean birthweight of 2.80 kg (range, 740 g-4.76 kg), mean gestational age of 37.8 weeks (range, 25-42), and mean age at presentation of almost 6 years (range, presentation, gestational age, and birthweight. Although a positive family history on presentation may support the diagnosis of FEVR, a negative family history is of little help. The majority of retinal folds extended radially in the temporal quadrants, but radial folds were seen in almost all quadrants. Fellow eyes demonstrated a wide variation in symmetry. The presentation of FEVR may mimic the presentation of other pediatric and adult vitreoretinal disorders, and careful examination is often crucial in making the diagnosis of FEVR. The authors have no proprietary or commercial interest in any of the materials discussed in this article. Copyright © 2011 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

A case study of an axillary artery pseudoaneurysm following anterior dislocation of the glenohumeral joint: A rare presentation on plain film radiographs

International Nuclear Information System (INIS)

Whittam, Katie; Hardy, Maryann

2007-01-01

Axillary pseudoaneurysm is a rare but important complication of anterior glenohumeral joint dislocation. Diagnosis of axillary pseudoaneurysm is predominantly undertaken following clinical examination but where diagnosis is uncertain, Doppler ultrasound is the imaging examination of choice to confirm diagnosis. In this case study, the initial clinical signs of axillary pseudoaneurysm were masked by the presenting trauma and, although findings indicative of pseudoaneurysm were present on late plain film images, they were not immediately recognised. Misdiagnosis or delayed diagnosis of axillary pseudoaneurysm may result in upper limb morbidity or patient mortality. Consequently, the prompt and accurate identification of an axillary pseudoaneurysm on plain film radiographs, although rare, is essential. Yet for inexperienced film readers, correctly identifying an axillary pseudoaneurysm can be difficult due to its apparent similarity to other pathologies. This article will highlight the differences in radiological appearances between a pseudoaneurysm and a gleno-humeral joint effusion to raise radiographer awareness of the risks and clinical signs of an axillary pseudoaneurysm post gleno-humeral joint dislocation and discuss the difficulties encountered in its diagnosis. Finally, this review will evaluate current diagnostic practices in comparison with best practice, as identified in the literature [Fitzgerald JF, Keates J. False aneurysm as a late complication of anterior shoulder dislocation. Ann Surg 1975;6:785-6; Drury JK, Scullion JE. Vascular complications of anterior dislocation of the shoulder. Br J Surg 1980;67(8):579-81. Waxman DL, France MP, Douglas T, Harryman I. Late lateral displacement of the humeral head after closed reduction of dislocation: a sign of vascular injury. J Bone Joint Surg 1996;78(6):907-10

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.

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Sonia Pavan

Full Text Available Clinical practice guidelines (CPGs for rare diseases (RDs are scarce, may be difficult to identify through Internet searches and may vary in quality depending on the source and methodology used. In order to contribute to the improvement of the diagnosis, treatment and care of patients, Orphanet (www.orpha.net has set up a procedure for the selection, quality evaluation and dissemination of CPGs, with the aim to provide easy access to relevant, accurate and specific recommendations for the management of RDs. This article provides an analysis of selected CPGs by medical domain coverage, prevalence of diseases, languages and type of producer, and addresses the variability in CPG quality and availability. CPGs are identified via bibliographic databases, websites of research networks, expert centres or medical societies. They are assessed according to quality criteria derived from the Appraisal of Guidelines, REsearch and Evaluation (AGREE II Instrument. Only open access CPGs and documents for which permission from the copyright holders has been obtained are disseminated on the Orphanet website. From January 2012 to July 2015, 277 CPGs were disseminated, representing coverage of 1,122 groups of diseases, diseases or subtypes in the Orphanet database. No language restriction is applied, and so far 10 languages are represented, with a predominance of CPGs in English, French and German (92% of all CPGs. A large proportion of diseases with identified CPGs belong to rare oncologic, neurologic, hematologic diseases or developmental anomalies. The Orphanet project on CPG collection, evaluation and dissemination is a continuous process, with regular addition of new guidelines, and updates. CPGs meeting the quality criteria are integrated to the Orphanet database of rare diseases, together with other types of textual information and the appropriate services for patients, researchers and healthcare professionals in 40 countries.

EXCEPTIONALLY RARE VARIANTS OF THE URINARY SYSTEM ANOMALIES - ROENTGEN PRESENTATION

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Rade R. Babić

2002-07-01

Full Text Available The results of the radiological study of the urinary system anomalies are presented on the material consisting of 8,568 urographies done from 1990 to 2001 at the Institute for Radiology, Niš. The paper shows exceptionally rare anomalies of the urinary system: a horse-shoe shaped kidney with pyelocaliceal systems in its arms and isthmus, heterolateral ectopia of the kidney with fusion, abdominal-medial ectopia of the kidney with ventral malrotation and cup hyperplasia, hypoplastic cup, triple pyeolcaliceal system, M. Lenarduzzi and blind-ending of the Y-shaped urethra. The author concludes that, for the sake of performing every day professional work, it is necessary to possess detailed knowledge of the rarest urinary system anomalies.

Vesical Leiomyoma: Presentation of a clinical case

International Nuclear Information System (INIS)

Rodriguez Carballo, Michel; Gonzalez Gonzalez, Gonzalo Antonio; Sanchez Falcon Ania

2009-01-01

The vesical leiomyoma is a tumor of mesenchymal origin, and extremely rare. Most of them are diagnosed casually after the pathologic study of samples collected after surgery. Few cases were found in the reviewed literature, leading us to think of the scarce incidence of this kind of tumors. We present a case treated in our service, of an 18-years-old female patient, assisting to our consultation presenting a polaquiuria, ardor and mictional effort. The complementary exams led to the surgical treatment and follow up of the patient

Facial nerve hemangioma: a rare case involving the vertical segment.

Science.gov (United States)

Ahmadi, Neda; Newkirk, Kenneth; Kim, H Jeffrey

2013-02-01

This case report and literature review reports on a rare case of facial nerve hemangioma (FNH) involving the vertical facial nerve (FN) segment, and discusses the clinical presentation, imaging, pathogenesis, and management of these rare lesions. A 53-year-old male presented with a 10-year history of right hemifacial twitching and progressive facial paresis (House-Brackmann grading score V/VI). The computed tomography and magnetic resonance imaging studies confirmed an expansile lesion along the vertical FN segment. Excision and histopathologic examination demonstrated FNH. FNHs involving the vertical FN segment are extremely rare. Despite being rare lesions, we believe that familiarity with the presentation and management of FNHs are imperative. Laryngoscope, 2012. Copyright © 2012 The American Laryngological, Rhinological, and Otological Society, Inc.

Multiple Eccrine Spiradenoma- An Unusual Clinical Presentation

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Anita P. Javalgi

2017-04-01

Full Text Available Eccrine spiradenoma is an uncommon benign adnexal tumour of apocrine differentiation. It is commonly seen in young adults with no sex predilection on upper ventral aspect of body as a solitary papule or nodule. Here we are reporting a rare case of Multiple Eccrine Spiradenoma (MES in a 29 year male patient, who presented with multiple nodules on the anterior chest wall.

Presentation of idiopathic retroperitoneal fibrosis at a young age: A rare case report.

Science.gov (United States)

Minocha, Priyanka; Setia, Ankur

2016-11-01

Abdominal pain is a very common symptom in all age groups but retroperitoneal fibrosis is a rare differential diagnosis suspected in young patients presenting with nonspecific abdominal pain and symptoms of obstructive uropathy. Presented here is a case of a 16-year-old boy who presented with symptoms of persistent abdominal pain and a previous history of swelling in the left leg. A computed tomography (CT) scan suggested retroperitoneal fibrosis and an exploratory laparotomy and histopathological examination were performed for definitive diagnosis. This case report is intended to promote awareness of retroperitoneal fibrosis in young patients among health care providers.

Extraosseous Ewing′s tumor of larynx: A rare presentation

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Vinod Shinde

2015-01-01

Full Text Available Primitive neuroectodermal tumors (PNETs are a group of highly malignant tumors composed of small round cells of neuroectodermal origin that affect soft tissue and bone. PNET of the larynx is extremely rare. We report a case of a 41-year-old male who presented with the complaints of progressively increasing stridor of 3 months duration, which was diagnosed as a case of neuroectodermal tumor in the subglottis. Patient was subjected to microlaryngeal surgery and the tumor was excised. Postoperatively, patient was given three cycles of chemotherapy comprising of ifosfamide, etoposide, and mesna, along with granulocyte colony stimulating factor, with 21 days interval. After chemotherapy repeat computed tomography scan showed no evidence of the tumor and no lymphadenopathy. Patient is symptom free for 18 months following completion of treatment. He is under regular follow-up and is undergoing monthly serial endoscopic evaluation.

A rare pediatric case of grossly dilated ureter presenting as abdominal mass

International Nuclear Information System (INIS)

Srivastava, Madhur Kumar; Govindarajan, Krishna Kumar; Chakkalakkoombil, Sunitha Vellathussery; Halanaik, Dhanapathi

2016-01-01

Renal masses account for 55% of cases presenting as palpable abdominal mass in children.[1] An eight year male presented with palpable abdominal mass and pain. The patient underwent renal dynamic scan, which raised possibility of left duplex kidney with non-functioning moiety, as the size of left kidney was smaller than seen on Ultrasonography (USG). Magnetic resonance (MR)urography confirmed the findings with patient undergoing left hemi-nephrectomy and is doing well. In case of discrepancy in size of kidney on USG and renal scan, duplex kidney should be considered as differential, other causes being, renal cyst, benign/malignant mass and renal calculi. Gross hydro-ureter presenting as palpable abdominal mass is very rare with few reported cases.[234

Clinical implications of a rare renal entity: Pleomorphic Hyalinizing Angiectatic Tumor (PHAT).

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Scalici Gesolfo, Cristina; Serretta, Vincenzo; Di Maida, Fabrizio; Giannone, Giulio; Barresi, Elisabetta; Franco, Vito; Montironi, Rodolfo

2017-02-01

Pleomorphic Hyalinizing Angiectatic Tumor (PHAT) is a rare benign lesion characterized by slow growth, infiltrative behavior and high rate of local recurrences. Only one case has been described in retroperitoneum, at renal hilum, but not involving pelvis or parenchyma. Here we present the first case of PHAT arising in the renal parenchyma. A nodular lesion in right kidney lower pole was diagnosed to a 61 year old woman. The patient underwent right nephrectomy. Microscopically, the lesion showed solid and pseudo-cystic components with hemorrhagic areas characterized by aggregates of ectatic blood vessels. Pleomorphic cells were characterized by large eosinophilic cytoplasm with irregular and hyperchromatic nuclei. Immunohistochemistry was performed and the lesion was classified as a Pleomorphic Hyalinizing Angiectatic Tumor (PHAT). Due to the clinical behavior of this tumor, in spite of its benign nature, review of the surgical margins and close follow up after partial nephrectomy are mandatory. Copyright © 2016. Published by Elsevier GmbH.

Bilateral Maxillary Dentigerous Cysts in a Nonsyndromic Child: A Rare Presentation and Review of the Literature

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Rakshit Vijay Khandeparker

2018-01-01

Full Text Available Dentigerous cysts represent the second most common odontogenic cysts of the jaws after radicular cysts and are usually associated with the crowns of unerupted permanent teeth and rarely deciduous teeth. They are usually solitary in their presentation. Multiple and bilateral dentigerous cysts are an extremely rare presentation in the absence of developmental syndromes or systemic diseases or the use of prescribed certain medications. We hereby present a case of a bilateral dentigerous cyst of the maxilla in a 10-year-old child involving the crowns of unerupted permanent second premolar on the right side and the unerupted permanent canine on the left side. An effort has also been made to review the existing literature on this entity and to stress the importance of radiographic and histopathological examinations in diagnosing such an entity.

Clinical presentation and management of congenital ptosis

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Marenco M

2017-02-01

Full Text Available Marco Marenco,1,* Ilaria Macchi,2,* Iacopo Macchi,3 Emilio Galassi,4 Mina Massaro-Giordano,5 Alessandro Lambiase1 1Department of Sense Organs, University of Rome “Sapienza”, 2Department of Ophthalmology, Campus Bio-Medico University of Rome, Rome, 3Department of Ophthalmology, University of Catania, Catania, 4Ophthalmic Clinic, Department of Ophthalmology, University of L’Aquila, L’Aquila, Italy; 5Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA *These authors contributed equally to this work Abstract: Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. However, not all patients need to undergo surgery, and usually only patients at risk of amblyopia need a prompt surgical correction, while in other cases, surgery can be postponed. The grade of ptosis, the eyelid function, and the amblyopic risk are the parameters that affect the ophthalmologist’s decision on timing of surgery and the surgical technique to be used. In fact, there are several types of surgical techniques to correct a congenital ptosis, although very often more than one is needed to obtain an acceptable result. This paper reviews the causes of congenital ptosis and associated diseases. Particular emphasis is given to surgical management and different procedures available to correct the upper eyelid anomaly and avoid permanent damage to visual function. Keywords: ptosis, extraocular muscle development, neurologic dysfunction, surgical approach

Breast Cancer with Synchronous Renal Cell Carcinoma: A Rare Presentation.

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Arjunan, Ravi; Kumar, Durgesh; Kumar, K V Veerendra; Premlatha, C S

2016-10-01

Primary cancer arising from multiple organs is a well known fact. Synchronous tumours have been most commonly associated with kidney cancer. Bladder, prostate, colorectal and lung cancer are the most common synchronous primaries with Renal Cell Carcinoma (RCC) identified till date. We found metachronous tumours of breast with RCC in literature search which included both metastatic tumours as well second primaries. Overall, 25 cases of metastatic breast tumours and eight cases of second primary in previously treated RCC have been reported in the literature. Here, we are reporting a case of synchronous presentation of carcinoma breast with RCC which is very rare because most of the multiple malignancies reported in the literature are metastatic tumours or metachronous breast malignancy with RCC.

The hidden Niemann-Pick type C patient : Clinical niches for a rare inherited metabolic disease

NARCIS (Netherlands)

Hendriksz, Christian J.; Anheim, Mathieu; Bauer, Peter; Bonnot, Olivier; Chakrapani, Anupam; Corvol, Jean-Christophe; de Koning, Tom J.; Degtyareva, Anna; Dionisi-Vici, Carlo; Doss, Sarah; Duning, Thomas; Giunti, Paola; Iodice, Rosa; Johnston, Tracy; Kelly, Dierdre; Kluenemann, Hans-Hermann; Lorenzl, Stefan; Padovani, Alessandro; Pocovi, Miguel; Synofzik, Matthis; Terblanche, Alta; Bergh, Florian Then; Topcu, Meral; Tranchant, Christine; Walterfang, Mark; Velten, Christian; Kolb, Stefan A.

2017-01-01

Background: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to

Male breast cancer is rare: an initial presentation may be as an abscess.

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Ventham, N T; Hussien, M I

2010-08-06

Breast cancer in men is rare. Breast cancer presenting initially as an abscess has been described only a handful of times in the literature. We present the first described case of invasive adenocarcinoma presenting as an abscess in a man. An 80-year-old diabetic man presented with symptoms typical of a breast abscess. The abscess failed to respond to percutaneous therapy and excision of breast abscess was performed. Histology revealed an invasive carcinoma. He went on to have a mastectomy. Histology should be obtained from breast abscesses not resolving within 2 months of initial percutaneous therapy. Histology could be obtained by ultrasound-guided fine-needle aspiration (FNA), core or vacuum assisted biopsy, or by formal incision and drainage.

An Atypical Presentation Of Pancreatic Carcinoma With Malignant ...

African Journals Online (AJOL)

Background: Pleural effusion secondary to pancreatic tumour is a relatively rare clinical presentation. Aim of study: To present a case of a patient that had pancreatic tumour who presented with features of left sided pleural effusion with a view to highlighting the clinical features of the presentation. Method of study: The case ...

A rare and an unusually delayed presentation of orbital actinomycosis following avulsion injury of the scalp

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Hegde Vidya

2010-01-01

Full Text Available We report a rare case of orbital swelling presenting one year after head trauma. An initial fine needle aspiration cytology revealed it to be an infected organizing hematoma. However, broad-spectrum antibiotics did not resolve the infection and the orbital lesion continued to grow in size, as evaluated by magnetic resonance imaging. Incisional biopsies were done, which were reported as orbital actinomycosis. Patient has responded well to treatment with penicillin. This case is of interest due to the delayed presentation of an orbital complication of head trauma and the rare infection with actinomyces. It also highlights the importance of using appropriate antibiotics, as well as the need for long-term treatment.

Orthokeratinized odontogenic cyst: A rare presentation

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Neha Bhasin

2014-01-01

Full Text Available Orthokeratinized Odontogenic Cyst (OOC is a developmental cyst of odontogenic origin and was initially defined as the uncommon orthokeratinized variant of the Odontogenic Keratocyst (OKC, until the World Health Organization′s (WHO′s classification in 2005, where it was separated from the Keratocystic Odontogenic Tumor (KCOT. It is a relatively uncommon developmental cyst comprising of only 0.4% of all odontogenic cysts. It is rather mystifying that its radiographic features are similar to the dentigerous cyst and histological characteristics are similar to the odontogenic keratocyst; and it has inconsistent cytokeratin expression profiles overlapping with both the dentigerous cyst and odontogenic keratocyst as well as with the epidermis. It has a predilection for the posterior mandibular region. This is a report of a rare case of OOC in an unusual maxillary anterior region, with emphasis on its biological characteristics.

Sudden Onset, Rapidly Expansile, Cervical Cystic Hygroma in an Adult: A Rare Case with Unusual Presentation and Extensive Review of the Literature

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Vivek Dokania

2017-01-01

Full Text Available Cystic hygroma (CH is a benign infiltrative malformation of the lymphatic channels. We report a case of a 28-year-old Indian female who presented with rapidly enlarging right sided neck swelling over the posterior triangle since 5 days. Complete resection of CH is sometimes not amenable because of its infiltrative nature and involvement of surrounding vital structures. However, in our patient successful complete surgical resection was undertaken. The MRI findings of our patient were consistent with brachial cleft cyst; this posed a challenge in the diagnosis of CH. The histopathological analysis of the resected mass confirmed CH. CH is rare in adults and such an acute presentation is exceptionally atypical. History of prior trauma and infection are known etiological factors for adult CH; these were conspicuously absent in our patient. CH should be considered in the differentials of rapidly enlarging cystic swelling of posterior region of neck in adults. Optimal and timely management is necessary to achieve a favorable prognosis. Therefore, we report a case of rapidly enlarging cervical CH in an adult along with extensive literature review to have a better understanding regarding epidemiology, etiopathogenesis, clinical presentation, optimal management, and prognosis of such a rare entity in adults.

A rare presentation of disseminated tuberculosis: Prostatic abscess.

Science.gov (United States)

Verma, Ajay; Singh, Anubhuti; Kishore, Kislay; Kant, Surya

2017-10-01

Involvement of the prostate by tuberculosis (TB) occurs rarely and tuberculosis prostate abscess is an even rarer occurrence. It has been reported in immunocompromised patients, mainly human immunodeficiency virus seropositive individuals. We are reporting a case of tuberculosis prostatic abscess in an immunocompetent patient with relapse of TB. Copyright © 2016 Tuberculosis Association of India. Published by Elsevier B.V. All rights reserved.

Krukenberg tumor in a young woman: A rare presentation

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Deepa Hatwal

2014-01-01

Full Text Available Krukenberg tumors mostly occur after 40 years. Metastatic ovarian tumors in young age are very rare and reported to be 2% of all the cases. Thirty percent of all ovarian neoplasms occurring during childhood and adolescence are malignant. A 25-year-old woman, parity- 2, presented with abdominal distension, pain in abdomen and amenorrhea. On examination, 18 weeks lump was palpable, firm to hard in consistency, non-tender and mobile. On ultrasonography bilateral ovarian tumors were reported, without any peritoneal free fluid. Total abdominal hysterectomy with bilateral salpingo-oophorectomy was performed. Microscopic examination revealed signet ring cells with glandular differentiation, diffusely invading the ovarian parenchyma. Tumor cells exhibited strong, diffuse immunopositivity for CEA with focal strong immunopositivity for CK7 and CK20 and immunonegativity for SATB2. Diagnosis of Krukenberg tumor was made. Endoscopic biopsy confirmed the diagnosis of adenocarcinoma stomach. This case is reported because of its rarity in younger age group.

Hypertension presenting early in pregnancy

OpenAIRE

Melvin, Audrey; Kinsley, Brendan

2015-01-01

Key Clinical Message Paraganglioma in pregnancy is an exceedingly rare and potentially life?threatening diagnosis. It is important that the clinicians consider secondary causes when women present with hypertension in early pregnancy.

Rare Papillary Serous Carcinoma In A Nigerian: Case Report And ...

African Journals Online (AJOL)

Objective: To present a rare case of papillary serous carcinoma of the cervix and review the literature. Materials and Methods: An illustrative case seen by the authors in a fifty-two year old Nigerian woman with stage III carcinoma of the cervix. Results: The clinical and pathological features of this rare tumour are discussed ...

An extremely rare neoplasm, histiocytic sarcoma: A report of two cases with an aggressive clinical course

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Erkan Kayikcioglu

2017-07-01

Conclusions: HS is an extremely rare malignant neoplasm of the monocytic/macrophage lineage, with no standardized chemotherapy regimen for multisystemic disease. Metastatic patients have a more aggressive clinical course than those with unifocal disease.

The clinical presentation of pulmonary embolism

International Nuclear Information System (INIS)

Otto, A.C.; Dunn, M.; Van der Merwe, B.; Katz, M.

2004-01-01

Full text: Introduction: Pulmonary embolism is often misdiagnosed by many clinicians because of confusion with pulmonary infarction. According to present literature, the latter seldomly occurs, thus pleuritic pain and hemoptysis are usually absent. The purpose of our study was to re-evaluate the clinical presentation of pulmonary embolism with specific reference to the presence of pulmonary hypertension and pulmonary infarction. Materials and methods: Ethical committee approval was obtained to study fifteen patients with abnormal lung perfusion and high probability for pulmonary embolism retrospectively. Clinical data will be presented in table format. Appropriate symptoms and signs not mentioned was considered absent. Specific investigations not available was considered not done. Results: Will be displayed in table format. The main findings can be summarized as follows: 1. Dyspnea was present in all the patients; 2. Pleuritic pain and hemoptysis was absent in all the patients; 3. None of the patients had clinical signs of pulmonary hypertension or infarction; 4. The available special investigations confirmed the above mentioned findings. Conclusion: The absence of pulmonary infarction and pulmonary hypertension with submassive pulmonary embolism (<60% of pulmonary vascular bed occluded) was reconfirmed and should be emphasized more in clinical practice. (author)

Fine-needle aspiration findings of a rare hematopoietic neoplasm presenting as obstructive jaundice.

Science.gov (United States)

Tracht, Jessica; Ahmed, Ali M; Rosenblum Donath, Frida

2017-12-01

A 51-year-old female who presented with obstructive jaundice was found to have masses in the pancreatic head and tail as well as suspicious liver and periaortic masses on imaging. Aspiration cytology of the pancreatic tail mass showed abundant large single cells with vacuolated eosinophilic cytoplasm, marked nuclear pleomorphism, large bizarre irregular nuclei, binucleation, and prominent nucleoli. Numerous cells also showed intracytoplasmic black to brown pigmentation. A cell block was obtained and extensive immunohistochemical staining was performed. S-100, HMB-45, Sox10, pancytokeratin, CK7, RCC antigen, synaptophysin, HepPar 1, inhibin, CD45, CD21, and CD123 were negative, making melanoma, epithelial malignancies, lymphoma, follicular dendritic and plasmacytoid dendritic cell neoplasms less likely. CD4 and CD56 showed partial positivity, and CD68, CD163, and CD14 were positive, supporting the diagnosis of histiocytic sarcoma. Surgical specimens and immunohistochemistry confirmed the cytologic findings. Histiocytic sarcoma is a rare aggressive malignancy of histiocytic origin with most cases presenting in adults in extranodal sites, most commonly the intestinal tract. Few cases are reported in the literature, presenting diagnostic challenges for cytopathologists when seen on fine-needle aspiration. We present the first reported case of histiocytic sarcoma presenting as a pancreatic mass, diagnosed by endoscopic ultrasound guided fine-needle aspiration (EUS-FNA). This entity is rarely described on cytology and arose in a location in which EUS-FNA is the diagnostic modality of choice. This case study highlights that cytopathologists should be aware of histiocytic sarcoma occurring in extranodal locations accessible by EUS-FNA and be familiar with the cytomorphologic appearance. © 2017 Wiley Periodicals, Inc.

Gastric Polyp: A rare cause of Chronic Volvulus in an Adult ...

African Journals Online (AJOL)

Gastric Polyp: A rare cause of Chronic Volvulus in an Adult. ME Mohammed, I Elawad. Abstract. Gastric volvulus is a rare but potentially life-threatening cause of upper gastrointestinal obstruction. It presents clinically with epigastric pain radiating to the back and or left thoracic area or left abdominal quadrant and retching.

Clinical presentation of juvenile Huntington disease

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Ruocco Heloísa H.

2006-01-01

Full Text Available OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. RESULTS: We identified 4 patients with juvenile onset of disease among 50 patients with Huntington disease followed prospectively in our Neurogenetics clinic. Age at onset varied from 3 to 13 years, there were 2 boys, and 3 patients had a paternal inheritance of the disease. Expanded Huntington disease allele sizes varied from 41 to 69 trinucleotide repeats. The early onset patients presented with rigidity, bradykinesia, dystonia, dysarthria, seizures and ataxia. MRI showed severe volume loss of caudate and putamen nuclei (p=0.001 and reduced cerebral and cerebellum volumes (p=0.01. CONCLUSION: 8% of Huntington disease patients seen in our clinic had juvenile onset of the disease. They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia. Two other important clinical features were seizures and ataxia, which related with the imaging findings of early cortical atrophy and cerebellum volume loss.

Clinically distinct presentations of copper deficiency myeloneuropathy and cytopenias in a patient using excessive zinc-containing denture adhesive.

Science.gov (United States)

Cathcart, Sahara J; Sofronescu, Alina G

2017-08-01

While copper deficiency has long been known to cause cytopenias, copper deficiency myeloneuropathy is a more recently described entity. Here, we present the case of two clinically distinct presentations of acquired copper deficiency syndromes secondary to excessive use of zinc-containing denture adhesive over five years: myeloneuropathy and severe macrocytic anemia and neutropenia. Extensive laboratory testing and histologic evaluation of the liver and bone marrow, were necessary to rule out other disease processes and establish the diagnosis of copper deficiency. The initial presentation consisted of a myelopathy involving the posterior columns. Serum and urine copper were significantly decreased, and serum zinc was elevated. On second presentation (five years later), multiple hematological abnormalities were detected. Serum copper was again decreased, while serum zinc was elevated. Zinc overload is a preventable cause of copper deficiency syndromes. This rare entity presented herein highlights the importance of patient, as well as provider, education. Copyright © 2017 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

Pachydermoperiostosis: a rare mimicker of acromegaly

OpenAIRE

Abdullah, Noor Rafhati Adyani; Jason, Wong Lok Chin; Nasruddin, Azraai Bahari

2017-01-01

Pachydermoperiostosis is a very rare osteoarthrodermopathic disorder whose clinical and radiographic presentations may mimic those of acromegaly. In the evaluation of patients with acromegaloid appearances, pachydermoperiostosis should be considered as a differential diagnosis. In this article, we report a 17-year-old boy who presented with 2-year history of acral enlargement and facial appearance changes associated with joint pain and excessive sweating. He had been investigated extensively ...

Ischemic Gastritis: A Multicenter Case Series of a Rare Clinical Entity and a Review of the Literature.

Science.gov (United States)

Elwir, Saleh; Shaukat, Aasma; Mesa, Hector; Colbach, Christine; Dambowy, Paul; Shaw, Michael

2016-10-01

To report a case series of ischemic gastritis and discuss its etiology, management, and associated mortality according to our results and the published English literature. Ischemic gastritis is rare, given the rich blood supply of the stomach. It has been reported in isolated case reports and small case series. Most cases are vascular in origin and associated with a high mortality. Pathology databases from 3 hospitals affiliated with the University of Minnesota Medical School were searched for cases of ischemic gastritis in the last 10 years. Patients' demographics, clinical course, and 1-month and 1-year mortalities were collected from electronic medical records. A total of 12 patients were identified (age range, 32.1 to 83.2), the largest series reported to date. The presenting symptom was gastrointestinal bleeding (8), abdominal pain (2), nausea (1), and symptomatic anemia (1). The etiology included postinterventional radiology embolization (2), hemodynamic changes in the setting of celiac axis stenosis (2), vasculitis (1), systemic hypotension (1), and unknown (6). Treatment included steroid therapy, revascularization by interventional radiology, surgery, or supportive treatment. Thirty-day and 1-year mortalities were 33% and 41%, respectively. Ischemic gastritis is rare, but associated with a high mortality. Evaluation for treatable etiologies should be sought and corrected if present.

Joubert syndrome with autism in two siblings: A rare presentation.

Science.gov (United States)

Raghavan, D Vijaya; Doshi, V Vimal; Nambi, Shanthi

2016-01-01

Joubert syndrome is a rare autosomal recessive disorder with partial or complete agenesis of cerebellar vermis. This syndrome is identified mainly by the presence of molar tooth sign in magnetic resonance imaging of the brain since it has a varied phenotypic presentation. Of the 200 cases reported so far in the literature, only three reports show the presence of autistic symptoms in siblings suggesting a link between the cerebellar vermis and autistic spectrum disorders. In this case report of two siblings, the female child satisfied the criterion for autistic spectrum disorder in accordance with Diagnostic and Statistical Manual of Mental Disorders Fifth Editon. The boy showed developmental delay with autistic features (not amounting to diagnostic threshold). This report is important in that it adds evidence to the literature that abnormalities of cerebellum are involved in the cognitive development and autistic symptoms.

Laryngeal Schwannoma: A Case Presentation and Review of the Mayo Clinic Experience.

Science.gov (United States)

Romak, Jonathan J; Neel, H Bryan; Ekbom, Dale C

2017-01-01

The aim of this study was to clarify the nature of laryngeal schwannomas through review of the experience of a single institution during a 104-year period. This is a retrospective case series. The Mayo Clinic, Rochester, Minnesota clinical and surgical pathology database was reviewed for the years 1985-2011. Four cases of laryngeal schwannoma were identified. These cases were pooled with a previously published series of laryngeal schwannomas treated at our institution between 1907 and 1986. The characteristics of all 11 cases were studied, and relevant literature was reviewed. A total of 11 cases of schwannoma of the larynx were identified. The mean age at presentation was 48 years (range 12-73 years). The most common presenting symptoms were dysphonia and dysphagia. The most frequently involved primary site was the false vocal fold (six patients), followed by the aryepiglottic fold (three), epiglottis (two), subglottis (two), ventricle (one), true vocal fold (one) and postcricoid region (one). The mean maximal tumor diameter was 2.5 cm. In all but one case, surgical excision was curative with no recurrence during recorded follow up ranging from 1 to 17 years. Laryngeal schwannomas, although rare, should be considered in the differential diagnosis of laryngeal tumors. They occur most frequently in the false vocal fold and present most commonly with dysphonia and/or dysphagia. Surgical excision is the treatment of choice. Copyright © 2017 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

"Prevalence of Thyrotoxicosis: Clinical presentation and results of treatment in 384 patients with Goiter under 18 years "

Directory of Open Access Journals (Sweden)

"Moayeri H

2002-08-01

Full Text Available Goiter is common among growing children and adolescents but thyrotoxicosis is a rare thyroid disorder in this age prevalence of thyrotoxicosis and clinical presentation in prevalence of thyrotoxicosis and clinical presentation of the disease among children and adolescents of the disease among children and adolescents presenting for goiter at the clinics of pediatric presenting for goiter at the clinics of pediatric Endocrinology of Tehran and Iran University of medical sciences and private offices. In a retrospective study the medical records of 424 patients with goiter were studied of whom 384 (285F, 99M and goiter and records available for review. All patients were examined by pediatric endocrinologist and their goiters were classified according to WHO criteria. Total T4, TSH, T3 and T3RU were measured. Out of the 384 cases that were diagnosed as goiter, 320 were euthyroid (83.4%, 49 were hypothyroid (12.7% and 15 were hyperthyroid (3.9%. Ninety-three percent of the hyperthyroid patients had graves’ disease and seven percent of them had toxic adenoma. The most common presenting feature in thyrotoxic patients was goiter. Sustained remission with medical treatment alone was attained in 46% with a mean treatment duration of 2.9 years. The comparison was made between the findings of this study and those of western countries indicating that the incidence of hyperthyroidism in Iranian pediatric population is not as high as in North America but is higher than in Europe. Clinical presentation, response to treatment and etiologic causes of the disease in our study was similar to other studies.

Torsion of a Wandering Spleen Presenting as Acute Abdomen

International Nuclear Information System (INIS)

Chauhan, Narvir Singh; Kumar, Satish

2016-01-01

Wandering spleen is a rare condition which if uncorrected, can result in torsion and infarction. Clinical presentation of a wandering spleen can vary from asymptomatic abdominal mass to acute abdominal pain. Radiological investigations play a pivotal role in diagnosis as the clinical diagnosis is usually impossible. We present a case of wandering spleen with torsion and complete infarction that occurred in a 32-year-old multiparous female. The diagnosis was established preoperatively on colour Doppler and CT of the abdomen with subsequent confirmation on surgery. Wandering spleen is a rare clinical condition which can present as acute abdomen. An increased awareness of this entity together with the timely use of ultrasound and CT of the abdomen can play an important role in preoperative diagnosis and surgical management

Haemorrhagic Presentation of a Craniopharyngioma in a Pregnant Woman

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Cesare Zoia

2014-01-01

Full Text Available Objective. Craniopharyngioma is a rare tumour, and, consequently, acute clinical presentation and diagnosis, during pregnancy, of this pathology are quite difficult to find. Only few cases are reported in the literature, and no one describes these two conditions in association. Methods. We report a particular case of craniopharyngioma presenting both of the above conditions. Results. The patient was successfully operated with endoscopic technique. Conclusions. Rare and difficult cases, created by the superposition of different clinical conditions, need multidisciplinary management, with collaboration, integration, and cooperation between different medical specialists.

Mucoepidermoid carcinoma of the anterior maxilla: A rare entity

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Smitha Kullaje

2014-01-01

Full Text Available Mucoepidermoid carcinoma is the second most common salivary gland tumor primarily involving major salivary glands and intraoral minor salivary glands. Although rare, it can occur in the jaw bones, but it is very rare in the maxillary anterior region. Here, we present a case of mucoepidermoid carcinoma occurring in maxillary anterior region in a 33-year-old male patient presented as painless swelling clinically appearing similar to a periapical or nasopalatine cyst. The final diagnosis of this lesion was made after microscopic examination of biopsy specimen.

Clinical presentation of renal cell carcinoma

International Nuclear Information System (INIS)

Rehman, R.A.; Ashraf, S.; Jamil, N.

2015-01-01

Most common malignant tumour of the kidney is Renal Cell Carcinoma (RCC) and is known for its unpredictable clinical behaviour. Aetiology and risk factors are not completely understood. Extensive workup is being done in the understanding of the disease, especially to diagnose early and to treat promptly. The objective of this study was to determine the clinical presentation and pathological pattern of RCC. Methods: After approval from ethical committee a retrospective review of records was conducted extending from January 2012 to January 2014 to identify clinical characteristics of renal cell carcinomas. The study included all renal cancer patients presented to Sheikh Zayed Hospital Lahore with in this specified period. The data was retrieved regarding, history, physical examination and necessary investigations such as ultrasonography of abdomen and pelvis and CT scan of abdomen and pelvis. Results: There were total of 50 cases. The male to female ratio was 3:2. Mean age of patients were 52.38 (18-93) years old. Most common clinical presentation was gross haematuria(66%).The mean tumour size was 8.34 (3-24) cm. Tumour histology were clear cell (84%), papillary transitional cell carcinoma (12%) and oncosytoma contributed 4%. Conclusion: We observed that large number of the patients with RCC presented with haematuria and most of them were male. Common pathological type was clear cell carcinoma. (author)

Acute abdominal pain presenting as a rare appendiceal duplication: a case report

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Mahmood Ali

2012-03-01

Full Text Available Abstract Introduction Appendiceal duplication is a rare anomaly that can manifest as right lower quadrant pain. There are several variations described for this condition. We recommend aggressive operative management should this anatomical variation present in the presence of acute appendicitis. Case presentation We report the case of a 15-year-old African American girl who presented to our hospital with right lower quadrant pain and was subsequently found to have appendiceal duplication. Conclusion There are two categorical systems that have described and stratified appendiceal duplication. Both classification systems have been outlined and referenced in this case report. A computed tomography scan has been included to provide a visual aid to help identify true vermiform appendiceal duplication. The presence of this anatomical abnormality is not a reason for surgical intervention; however, should this be found in the setting of acute appendicitis, aggressive resection of both appendices is mandatory.

The presentation and evaluation of a case of systemic Lupus erythematosus and anthiphospholipid antibody syndrome with primary clinical manifestation of chorea

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Asgary S

1998-06-01

Full Text Available Manifestation of chorea in patients with systemic lupus erythematosus (SLE and antiphospholipid antibody syndrome (APA synd. is not common. Moreover, primary presentation of the disease with chorea is rare and only few such cases are reported in literature in recent years. We report here the case of a 28 year old woman who was first seen at the age of 10 with clinical manifestations of chorea. Later she developed deep vein thrombosis, thrombocytpenia, stroke, cardiac valve involvement and recurrent abortions. Laboratory investigations confirmed the diagnosis of SLE and the presence of antiphospholipid antibodies. We present this patient as a case of SLE and antiphospholipid antibody syndrome with chorea being her primary clinical presentation

A Rare Chromosome 3 Imbalance and Its Clinical Implications

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Karen Sims

2012-01-01

Full Text Available The duplication of chromosome 3q is a rare disorder with varying chromosomal breakpoints and consequently symptoms. Even rarer is the unbalanced outcome from a parental inv(3 resulting in duplicated 3q and a deletion of 3p. Molecular karyotyping should aid in precisely determining the length and breakpoints of the 3q+/3p− so as to better understand a child’s future development and needs. We report a case of an infant male with a 57.5 Mb duplication from 3q23-qter. This patient also has an accompanying 1.7 Mb deletion of 3p26.3. The duplicated segment in this patient encompasses the known critical region of 3q26.3-q27, which is implicated in the previously reported 3q dup syndrome; however, the accompanying 3p26.3 deletion is smaller than the previously reported cases. The clinical phenotype of this patient relates to previously reported cases of 3q+ that may suggest that the accompanying 1.7 Mb heterozygous deletion is not clinically relevant. Taken together, our data has refined the location and extent of the chromosome 3 imbalance, which will aid in better understanding the molecular underpinning of the 3q syndrome.

Identification by Molecular Methods and Matrix-Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometry and Antifungal Susceptibility Profiles of Clinically Significant Rare Aspergillus Species in a Referral Chest Hospital in Delhi, India

NARCIS (Netherlands)

Masih, A.; Singh, P.K.; Kathuria, S.; Agarwal, K.; Meis, J.F.G.M.; Chowdhary, A.

2016-01-01

Aspergillus species cause a wide spectrum of clinical infections. Although Aspergillus fumigatus and Aspergillus flavus remain the most commonly isolated species in aspergillosis, in the last decade, rare and cryptic Aspergillus species have emerged in diverse clinical settings. The present study

Very late bare-metal stent thrombosis, rare but stormy!

LENUS (Irish Health Repository)

Ali, Mohammed

2011-08-01

Recurrent in-stent thrombosis is rarely reported, with catastrophic clinical consequences of either acute coronary syndrome or death. We present a case of recurrent in-stent thrombosis with its outcome and a concise literature review.

The Association of Age With Clinical Presentation and Comorbidities of Pyoderma Gangrenosum.

Science.gov (United States)

Ashchyan, Hovik J; Butler, Daniel C; Nelson, Caroline A; Noe, Megan H; Tsiaras, William G; Lockwood, Stephen J; James, William D; Micheletti, Robert G; Rosenbach, Misha; Mostaghimi, Arash

2018-04-01

Pyoderma gangrenosum is an inflammatory neutrophilic dermatosis. Current knowledge of this rare disease is limited owing to a lack of validated diagnostic criteria and large population studies. To evaluate the association of age with the clinical presentation and comorbidities of pyoderma gangrenosum. This was a multicenter retrospective cohort study performed at tertiary academic referral centers in urban settings. Adults (≥18 years) who were evaluated and diagnosed as having pyoderma gangrenosum at the Brigham and Women's and Massachusetts General Hospitals from 2000 to 2015 and the University of Pennsylvania Health System from 2006 to 2016 were included. Patient demographics, clinical features, medical comorbidities, and treatment. Of the 356 validated cases of pyoderma gangrenosum included in the study, 267 (75%) were women and 284 (84.8%) were white. The mean (SD) age at presentation was 51.6 (17.7) years. Pathergy was recorded in 100 patients (28.1%). A total of 238 patients (66.9%) had associated medical comorbidities: inflammatory bowel disease in 146 patients (41.0%); inflammatory arthritis in 73 patients (20.5%); solid organ malignant neoplasms in 23 patients (6.5%); hematologic malignant neoplasms in 21 patients (5.9%); and hematologic disorders, specifically monoclonal gammopathy of undetermined significance, myelodysplastic syndrome, and polycythemia vera in 17 patients (4.8%). When stratified by age, pathergy was more common in patients 65 years or older (36.3% vs 24.3%; P = .02). Inflammatory bowel disease was the only medical comorbidity that was more common in patients younger than 65 years (47.7% vs 26.6%; P clinical presentation in this large cohort was similar between different age groups, disease associations varied by age. The findings of this study may allow for a more focused, age-specific evaluation of patients with pyoderma gangrenosum.

Reverse (posterior) cloaca with congenital rectal stenosis and pseudohermaphrodism: a rare entity with rare association

Science.gov (United States)

Ahmed, Intezar; Kureel, Shiv Narain; Chandra, Naveen

2010-01-01

Reverse (posterior) cloaca is itself a rare entity and association of this defect with other congenital syndromes or defects is extremely rare to find. To diagnose this unique anomaly one should be aware about this very infrequently encountered clinical entity. Reverse cloaca is a very rare variant of anorectal malformation in which urethra and vagina fused to form a urogenital sinus that diverts posteriorly and opens in the anterior rectal wall at the anus or immediately anterior to it. We report a neonate with the rare clinical entity of reverse cloaca type C, pseudophallus with rudimentary urethra as a component of female pseudohermaphrodism and congenital rectal stenosis. Surprisingly, there was no associated urological abnormality on ultrasonography and laparotomy. PMID:22797480

Epidemiology, genetic, natural history and clinical presentation of giant cerebral aneurysms.

Science.gov (United States)

Lonjon, M; Pennes, F; Sedat, J; Bataille, B

2015-12-01

Giant cerebral aneurysms represent 5% of intracranial aneurysms, and become symptomatic between 40 and 70 years with a female predominance. In the paediatric population, the giant aneurysm rate is higher than in the adult population. Classified as saccular, fusiform and serpentine, the natural history of giant cerebral aneurysms is characterized by thrombosis, growth and rupture. The pathogenesis of these giant aneurysms is influenced by a number of risk factors, including genetic variables. Genome-wide association studies have identified some chromosomes highlighting candidate genes. Although these giant aneurysms can occur at the same locations as their smaller counterparts, a predilection for the cavernous location has been observed. Giant aneurysms present with symptoms caused by a mass effect depending on their location or by rupture; ischemic manifestations rarely reveal the aneurysm. If the initial clinical descriptions have been back up by imagery, the clinical context with a pertinent analysis of the risk factors remain the cornerstone for the management decisions of these lesions. Five year cumulative rupture rates for patients with giant aneurysm were 40% for those located on the anterior part of circle of Willis and 50% for those on the posterior part. The poor outcome of untreated patients justifies the therapeutic risks. Copyright © 2015. Published by Elsevier Masson SAS.

Clinical Subtypes of Dementia with Lewy Bodies Based on the Initial Clinical Presentation.

Science.gov (United States)

Morenas-Rodríguez, Estrella; Sala, Isabel; Subirana, Andrea; Pascual-Goñi, Elba; Sánchez-Saudinós, MaBelén; Alcolea, Daniel; Illán-Gala, Ignacio; Carmona-Iragui, María; Ribosa-Nogué, Roser; Camacho, Valle; Blesa, Rafael; Fortea, Juan; Lleó, Alberto

2018-06-04

Dementia with Lewy bodies (DLB) is a heterogeneous disease in which clinical presentation, symptoms, and evolution widely varies between patients. To investigate the existence of clinical subtypes in DLB based on the initial clinical presentation. 81 patients with a clinical diagnosis of probable DLB were consecutively included. All patients underwent a neurological evaluation including a structured questionnaire about neuropsychiatric symptoms and sleep, an assessment of motor impairment (Unified Parkinson Disease Rating Scale subscale III), and a formal neuropsychological evaluation. Onset of core symptoms (hallucinations, parkinsonism, and fluctuations) and dementia were systematically reviewed from medical records. We applied a K-means clustering method based on the initial clinical presentation. Cluster analysis yielded three different groups. Patients in cluster I (cognitive-predominant, n = 46) presented more frequently with cognitive symptoms (95.7%, n = 44, p presented more frequently with psychotic symptoms (77.3%, n = 17), and had a shorter duration until the onset of hallucinations (p clinical DLB can be defined when considering the differential initial presentations. The proposed subtypes have distinct clinical profiles and progression patterns.

Cerebriform intradermal nevus presenting as cutis verticis gyrata with multiple cellular blue nevus over the body: A rare occurrence

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Somenath Sarkar

2014-01-01

Full Text Available Cutis verticis gyrata is a rare skin condition characterized by swelling of scalp resembling the surface of the brain. Various conditions, like cerebriform intradermal nevus (CIN, may give rise to this clinical entity. Moreover, its association with cellular blue nevus is extremely rare and has not been reported so far. Here, we report a 28-year-old male with a huge cerebriform swelling covering the occipital lobe along with multiple nodules all over the body. Histology of the scalp swelling showed solitary or clusters of nevus cells in the dermis and from the body lesions showed features of cellular blue nevus. The diagnosis of CIN with cellular blue nevus was confirmed

A rare case of extra-nasopharyngeal angiofibroma of the septum in a female child.

Science.gov (United States)

Singh, G B; Shukla, S; Kumari, P; Shukla, I

2018-02-01

Extra-nasopharyngeal angiofibroma is a rare but distinct clinical entity, different from juvenile angiofibroma. This clinical record elucidates the only case of extra-nasopharyngeal angiofibroma arising from the septum in a female child, who presented with epistaxis. The histopathological diagnosis was confirmed by immunohistochemistry, and the case was managed surgically with no recurrence. In a female paediatric patient presenting with epistaxis, extra-nasopharyngeal angiofibroma (of the inferior turbinate) is a rare albeit important differential diagnosis, as it challenges the hormonal theory of angiofibroma aetiopathogenesis.

Glial heterotopia of the orbit: a rare cause of proptosis.

Science.gov (United States)

Bakhti, Souad; Terkmani, Fella; Tighilt, Nabila; Benmouma, Youcef; Boumehdi, Nazim; Djennas, Mohamed

2016-11-01

Glial heterotopia is defined as presence of normal glial tissue in an unusual location without connection with the brain. It is a very rare clinical entity occuring mostly in the head and neck region which is generally present at birth. Orbital location is very rare. We report a case of a 4-month-old girl presenting congenital proptosis with progressive increase. CT scan revealed an intraorbital mass without bony defect. The patient was operated, and resection was subtotal. Histologically, the tumor was composed of glial tissue with plexus choroid and pathologist concluded glial heterotopia. The child is under constant medical supervision because recurrences can be observed after incomplete resection; she had no new clinical signs at 18 months follow-up.

Pleomorphic lipoma of the neck in an infant: A rare clinical entity

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Ram Samujh

2017-01-01

Full Text Available Lipomas are rare in the pediatric age group. A 10-month-old male child presented with an asymptomatic neck mass which was evaluated and excised completely. Histopathology was consistent with pleomorphic lipoma, not previously reported in children.

Clinical presentation of adult coeliac disease.

LENUS (Irish Health Repository)

Tajuddin, T

2012-02-01

The mode of presentation of coeliac disease has been changing to more atypical or silent disease. Few studies described the clinical presentation of adult coeliac disease in Ireland in recent years. We retrospectively collected the clinical data for all patients who had a diagnosis of coeliac disease made in our centre between January 07 and December 08. Forty seven adults, predominantly females (n = 30), had a confirmed diagnosis of coeliac disease made during the study period. In our patient cohort, the presenting symptom was diarrhoea in 19 (40%) patients, while 16 patients (34%) did not have any G.I. symptoms, 10 (21%) presented with anaemia. Females presented at a significantly younger age compared to males, with median ages at diagnosis of 44.5 and 57 years, respectively (p = 0.04). Females also presented more commonly with non G.I. symptoms (p = 0.07). The reasons behind this gender difference need further study.

Carcinomatous meningitis due to gastric adenocarcinoma:A rare presentation of relapse

Institute of Scientific and Technical Information of China (English)

Nibal; Saad; Ahmad; Alsibai; Tarik; H; Hadid

2014-01-01

While solid tumors are less commonly associated with meningeal involvement; lung, breast and melanoma are the ones most often reported. A few case reports have included gastric carcinoma but these are rare and most often associated with systemic disease at the time of diagnosis. Here we report a unique presentation of gastric carcinoma relapse with leptomeningeal carcinomatosis. An 81-year-old female was diagnosed with gastric cancer approximately one year before presentation. Following neoadjuvant chemotherapy, she had gastrectomy. Her periodic surveillance was stable. Thereafter she presented with a one week history of progressive fatigue lightheadedness, syncope. During hospitalization her mental status deteriorated. A repeat computed axial tomography scan of the head showed no changes to suggest an etiology. A lumbar puncture was performed and cerebral spinal fluid(CSF) cytopathology confirmed gastric signet cell adenocarcinoma. Encephalopathy was likely caused by increased intracranial pressure from communicating hydrocephalus.Leptomeningeal carcinomatosis is associated with short life expectancy. Therapeutic lumbar punctures and best supportive care or systemic therapy can be applied with guarded prognosis. Survival, however, may improve with cytologic negative conversion of the CSF if patient performance status allows treatment.

Primary Mediastinal Synovial Sarcoma Presenting as Superior Vena Cava Syndrome: A Rare Case Report and Review of the Literature

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Irappa Madabhavi

2015-01-01

Full Text Available Primary mediastinal sarcomas are aggressive tumors with a very rare incidence. This report describes the case of a 35-year-old male patient who presented with acute symptoms of dyspnoea, facial puffiness, voice-hoarseness, and engorged neck veins. With the clinical picture consistent with the superior vena cava (SVC syndrome, the patient was investigated with computed tomography of the chest. This revealed a large soft tissue density mass lesion compressing the SVC along with other critical superior mediastinal structures. Histopathological evaluation of the mass revealed features consistent with a soft tissue sarcoma and positive staining was observed for vimentin and S-100. Cytogenetic analysis by fluorescent in situ hybridisation (FISH demonstrated the t(X:18 translocation. Thus diagnosis was established as primary mediastinal synovial sarcoma. Patient was treated with three cycles of neoadjuvant chemotherapy, to which there was a partial response as per the RECIST criteria. Surgical excision of the mediastinal mass was performed, and further postoperative treatment with adjuvant chemoradiotherapy was provided. Patient currently is free of disease. This is to the best of our knowledge the first report in the world literature of a successfully treated case of “primary mediastinal sarcomas presenting as SVC syndrome.” Patient is under regular surveillance at our clinic and remains free of recurrence one year after treatment completion.

A Rare Presentation of the Syndrome of Inappropriate Antidiuretic Hormone in a 12-Year-Old Girl as the Initial Presentation of an Immature Ovarian Teratoma.

Science.gov (United States)

Iqbal, Anoop Mohamed; Schwenk, W Frederick

2018-02-01

Immature ovarian teratoma is very rare in childhood. We report on a 12-year-old girl with immature ovarian teratoma who presented initially with syndrome of inappropriate antidiuretic hormone. A 12-year-old girl presented with acute abdomen and distention. Initial laboratory tests showed hyponatremia (sodium, 123 mmol/L), that did not respond to fluid management. Computed tomography imaging showed a 15 cm × 9 cm × 20 cm mass in the right ovary with multifocal internal fat, and dystrophic calcifications. She underwent exploratory laparotomy with a right salpingo-oophorectomy, omentectomy, and peritoneal stripping. The pathology revealed metastatic immature teratoma. Hyponatremia resolved soon after the surgery. Although a rare diagnosis, immature ovarian teratoma must be considered in a girl who presents with abdominal mass and hyponatremia. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Pachydermoperiostosis: a rare mimicker of acromegaly

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Noor Rafhati Adyani Abdullah

2017-05-01

Full Text Available Pachydermoperiostosis is a very rare osteoarthrodermopathic disorder whose clinical and radiographic presentations may mimic those of acromegaly. In the evaluation of patients with acromegaloid appearances, pachydermoperiostosis should be considered as a differential diagnosis. In this article, we report a 17-year-old boy who presented with 2-year history of acral enlargement and facial appearance changes associated with joint pain and excessive sweating. He had been investigated extensively for acromegaly, and the final diagnosis was pachydermoperiostosis.

Case Report: Clinically amyopathic dermatomyositis presenting acutely with isolated facial edema [version 2; referees: 2 approved

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Efthymia Pappa

2018-03-01

Full Text Available A 45-year-old Asian man presented with acute-onset periorbital and facial edema associated with pyrexia. Muscle weakness was absent. Initial laboratory investigations showed an inflammatory reaction, while screening for infections was negative. Serum muscle enzyme levels were normal. He was hospitalized and treated empirically with antibiotics and corticosteroids, pending the result of facial skin and muscle biopsy. He showed a good clinical and laboratory response but an attempt to discontinue corticosteroids led to a prompt relapse of facial edema and pyrexia, associated with rising laboratory indices of inflammation. Biopsy findings were typical of dermatomyositis. Reintroduction of corticosteroid treatment resulted in complete clinical and laboratory remission. Facial edema as the sole clinical manifestation of dermatomyositis is extremely rare. There have been no previous reports of isolated facial edema in the setting of acute, clinically amyopathic dermatomyositis in adults. A high level of suspicion is required to make the diagnosis in the absence of myopathy and the hallmark cutaneous manifestations of the disease (heliotrope rash, Gottron papules.

Identification by Molecular Methods and Matrix-Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometry and Antifungal Susceptibility Profiles of Clinically Significant Rare Aspergillus Species in a Referral Chest Hospital in Delhi, India.

Science.gov (United States)

Masih, Aradhana; Singh, Pradeep K; Kathuria, Shallu; Agarwal, Kshitij; Meis, Jacques F; Chowdhary, Anuradha

2016-09-01

Aspergillus species cause a wide spectrum of clinical infections. Although Aspergillus fumigatus and Aspergillus flavus remain the most commonly isolated species in aspergillosis, in the last decade, rare and cryptic Aspergillus species have emerged in diverse clinical settings. The present study analyzed the distribution and in vitro antifungal susceptibility profiles of rare Aspergillus species in clinical samples from patients with suspected aspergillosis in 8 medical centers in India. Further, a matrix-assisted laser desorption ionization-time of flight mass spectrometry in-house database was developed to identify these clinically relevant Aspergillus species. β-Tubulin and calmodulin gene sequencing identified 45 rare Aspergillus isolates to the species level, except for a solitary isolate. They included 23 less common Aspergillus species belonging to 12 sections, mainly in Circumdati, Nidulantes, Flavi, Terrei, Versicolores, Aspergillus, and Nigri Matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) identified only 8 (38%) of the 23 rare Aspergillus isolates to the species level. Following the creation of an in-house database with the remaining 14 species not available in the Bruker database, the MALDI-TOF MS identification rate increased to 95%. Overall, high MICs of ≥2 μg/ml were noted for amphotericin B in 29% of the rare Aspergillus species, followed by voriconazole in 20% and isavuconazole in 7%, whereas MICs of >0.5 μg/ml for posaconazole were observed in 15% of the isolates. Regarding the clinical diagnoses in 45 patients with positive rare Aspergillus species cultures, 19 (42%) were regarded to represent colonization. In the remaining 26 patients, rare Aspergillus species were the etiologic agent of invasive, chronic, and allergic bronchopulmonary aspergillosis, allergic fungal rhinosinusitis, keratitis, and mycetoma. Copyright © 2016, American Society for Microbiology. All Rights Reserved.

Identification by Molecular Methods and Matrix-Assisted Laser Desorption Ionization–Time of Flight Mass Spectrometry and Antifungal Susceptibility Profiles of Clinically Significant Rare Aspergillus Species in a Referral Chest Hospital in Delhi, India

Science.gov (United States)

Masih, Aradhana; Singh, Pradeep K.; Kathuria, Shallu; Agarwal, Kshitij

2016-01-01

Aspergillus species cause a wide spectrum of clinical infections. Although Aspergillus fumigatus and Aspergillus flavus remain the most commonly isolated species in aspergillosis, in the last decade, rare and cryptic Aspergillus species have emerged in diverse clinical settings. The present study analyzed the distribution and in vitro antifungal susceptibility profiles of rare Aspergillus species in clinical samples from patients with suspected aspergillosis in 8 medical centers in India. Further, a matrix-assisted laser desorption ionization–time of flight mass spectrometry in-house database was developed to identify these clinically relevant Aspergillus species. β-Tubulin and calmodulin gene sequencing identified 45 rare Aspergillus isolates to the species level, except for a solitary isolate. They included 23 less common Aspergillus species belonging to 12 sections, mainly in Circumdati, Nidulantes, Flavi, Terrei, Versicolores, Aspergillus, and Nigri. Matrix-assisted laser desorption ionization–time of flight mass spectrometry (MALDI-TOF MS) identified only 8 (38%) of the 23 rare Aspergillus isolates to the species level. Following the creation of an in-house database with the remaining 14 species not available in the Bruker database, the MALDI-TOF MS identification rate increased to 95%. Overall, high MICs of ≥2 μg/ml were noted for amphotericin B in 29% of the rare Aspergillus species, followed by voriconazole in 20% and isavuconazole in 7%, whereas MICs of >0.5 μg/ml for posaconazole were observed in 15% of the isolates. Regarding the clinical diagnoses in 45 patients with positive rare Aspergillus species cultures, 19 (42%) were regarded to represent colonization. In the remaining 26 patients, rare Aspergillus species were the etiologic agent of invasive, chronic, and allergic bronchopulmonary aspergillosis, allergic fungal rhinosinusitis, keratitis, and mycetoma. PMID:27413188

A rare presentation of a child with osteogenesis imperfecta and congenital laryngomalacia for herniotomy

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Roshith Chandran

2011-01-01

Full Text Available Sometimes anaesthesiologists come across rare congenital anomalies in their practice. The inherent complications associated with the disorder necessitate tailor-made approaches for providing anaesthesia to even seemingly simple surgical interventions. Here, we share our experience of anaesthesia management of an infant with congenital laryngomalacia and recently diagnosed osteogenesis imperfecta type 1 who had presented to us with an acute abdomen for a semi-emergency herniotomy.

A rare case of quadrigeminal plate lipoma presenting with the sixth cranial nerve palsy

Institute of Scientific and Technical Information of China (English)

Bipin Kumar Chaurasia; Tolga Dundar; Narendra Shalike; Silak Ram Chaudhary; Shamsul Alam; Dhiman Chowdhory; Kanak Kanti Barua; Ranjit Kumar Chaurasiya; Raushan Kumar Chaurasia; Ramesh Kumar Chaurasia

2017-01-01

Intracranial lipomas are rare benign tumour that is slow growing, generally asymptomatic, most frequently located in the midline areas and are usually an incidental finding on imaging and therefore cases are not frequently reported. This study reports a case of a patient with quadrigeminal plate lipoma presenting with obstructive hydrocephalous and the 6th cranial nerve palsy that was successfully treated with ventriculo-peritoneal shunting without addressing the lesion.

A rare presentation of ruptured interstitial ectopic pregnancy with broad ligament hematoma: A case report

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Ahmed M. Abbas

2017-03-01

Full Text Available Ectopic pregnancy is a major cause of maternal morbidity and mortality in the first trimester. Interstitial type is the most dangerous variety with a high risk of life-threatening internal hemorrhage. Obstetricians need a high index of suspicion to diagnose such rare type. We are reporting a rare case of ruptured interstitial ectopic pregnancy presented with a large broad ligament hematoma early in the first trimester. A 25-year-old woman was presented with gradual onset of increasing abdominal pain after 6 weeks of amenorrhea. She had a positive urinary pregnancy test. Abdominal ultrasound revealed bulky empty uterus and ill-defined mass at the right side of the uterus. On exploration, incision and drainage of broad ligament hematoma were performed in addition to right salpingectomy. Interstitial ectopic pregnancy represents a diagnostic and therapeutic challenge and frequently constitutes an obstetrical emergency. Its rupture early in the first trimester should be expected. Early diagnosis and proper management are the most important issues to avoid its catastrophic consequences.

Clinical Presentation, Surgical Treatment, and Outcome in Radial Polydactyly.

Science.gov (United States)

Dijkman, R R; van Nieuwenhoven, C A; Hovius, S E R; Hülsemann, W

2016-02-01

Radial polydactyly or 'thumb duplication' is the most common congenital upper limb anomaly ('CULA') affecting the thumb. The clinical presentation is highly diverse, ranging from an extra thumb floating on a skin bridge to complicated thumb triplications with triphalangeal, deviating, and hypoplastic components. Radial polydactyly can be classified into one of 7 osseous presentations using the Wassel classification, with type IV (45%), type II (20%), and type VII (15%) occurring most frequently. When faced with a radial polydactyly case, hand surgeons specialised in congenital anomalies must weigh the preoperative functional potential and degree of hypoplasia of both thumbs in order to decide whether to resect one thumb and reconstruct the other ('resection and reconstruction'), excise a central part of both thumbs and unite the lateral tissues into one thumb ('the Bilhaut procedure'), transfer the better-developed distal tissues of one thumb onto the better-developed proximal tissues of the other ('on-top plasty'), or discard both severely hypoplastic thumbs and pollicise the index finger. Mere excision of the hypoplastic thumb is rarely indicated since it often requires subsequent revision surgery. Even after being treated by experienced surgeons, about 15% of patients with polydactyly will need additional procedures to correct residual and/or new problems such as deviation from the longitudinal axis and joint instability. Nevertheless, radial polydactyly patients usually achieve unimpaired everyday hand function postoperatively. © Georg Thieme Verlag KG Stuttgart · New York.

Fourteen-year-old girl with endobronchial carcinoid tumour presenting with asthma and lobar emphysema

DEFF Research Database (Denmark)

Andersen, Julie Bjerglund; Mortensen, Jann; Damgaard, Karen

2010-01-01

Bronchial carcinoid tumours seldom occur in children, and represent a rare cause of pulmonary obstruction. Because of low clinical suspicion and the variable ways of presentation, diagnosis may be delayed.......Bronchial carcinoid tumours seldom occur in children, and represent a rare cause of pulmonary obstruction. Because of low clinical suspicion and the variable ways of presentation, diagnosis may be delayed....

Pediatric schwannomatosis, a rare but distinct form of neurofibromatosis

Energy Technology Data Exchange (ETDEWEB)

Thomas, Anna K. [University of Tennessee Health Science Center, Department of Radiology, Le Bonheur Children' s Hospital, Memphis, TN (United States); Egelhoff, John C.; Curran, John G. [Phoenix Children' s Hospital, Department of Radiology, Phoenix, AZ (United States); Thomas, Bobby

2016-03-15

Schwannomatosis is the third major form of neurofibromatosis, distinct from neurofibromatosis type 2 (NF2) and type 1 (NF1). This condition is rare with a variable phenotypic presentation and complex molecular and genetic findings. In this case, a previously healthy teenager was found to have multiple spinal lesions and an enhancing right parotid mass on MRI. On extensive further work-up, this patient met the existing clinical criteria for schwannomatosis. This case report aims to review the clinical features and current diagnostic criteria for schwannomatosis and compare it to NF1 and NF2. Special emphasis will be placed on imaging features that should prompt the radiologist to suggest this rare diagnosis. (orig.)

Intracranial Castleman's disease presenting as hypopituitarism

International Nuclear Information System (INIS)

Ribeiro, L.T.; Simao, G.N.; Matos, A.L.M.; Santos, Antonio Carlos; Carlotti, C.G. Jr.; Colli, B.O.; Neder, L.; Ribeiro-Silva, A.; Castro, M. de; Rego, E.

2004-01-01

Castleman's disease is an atypical lymphoproliferative disorder that may present as a localized or multicentric form. The involvement of the central nervous system is rare. We describe here a case of Castleman's disease with involvement of the hypothalamus and meninges, presenting as hypopituitarism. Radiological and clinical pathological features are emphasized and a review of the literature is presented. (orig.)

Jejunogastric intussusception presented with hematemesis: a case presentation and review of the literature

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Papastratis George

2001-01-01

Full Text Available Abstract Background Jejunogastric intussusception (JGI is a rare but potentially very serious complication of gastrectomy or gastrojejunostomy. To avoid mortality early diagnosis and prompt surgical intervention is mandatory. Case presentation A young man presented with epigastric pain and bilous vomiting followed by hematemesis,10 years after vagotomy and gastrojejunostomy for a bleeding duodenal ulcer. Emergency endoscopy showed JGI and the CT scan of the abdomen was compatible with this diagnosis. At laparotomy a retrograde type II, JGI was confirmed and managed by reduction of JGI without intestinal resection. Postoperative recovery was uneventful. Conclusions JGI is a rare condition and less than 200 cases have been published since its first description in 1914. The clinical picture is almost diagnostic. Endoscopy performed by someone familiar with this rare entity is certainly diagnostic and CT-Scan of the abdomen could also help. There is no medical treatment for acute JGI and the correct treatment is surgical intervention as soon as possible.

Mediastinal mass: an unusual presentation of coccidioidomycosis

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Imran Umer

2014-04-01

Full Text Available Coccidioidomycosis is an endemic fungal disease, found mainly in the southwesternUnited States, northwestern Mexico, and some areas of Brazil and Argentina. Clinicalmanifestations vary depending upon both the extent of infection and the immune statusof the host. Pneumonia is the most common clinical presentation, and it rarely involvesthe central nervous system, skin, and bones. Patients with coccidioidomycosis usuallyrespond well to therapy if diagnosed and treated promptly. Here we report a rare caseof coccidioidomycosis infection in an immunocompromised host who presented with amediastinal mass.

Double Trouble: A Rare Case of Bilateral Upper Pole Ureteropelvic Junction Obstruction

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Craig A. Peters

2014-09-01

Full Text Available A 16-year-old girl presented with bilateral back pain caused by bilateral upper pole ureteropelvic junction obstructions; an extremely rare phenomenon. Bilateral robotically assisted upper pole pyeloplasties were preformed at the same setting with an excellent clinical response. Although rare, upper pole ureteropelvic junction obstruction is a defined entity that urologists should be aware of.

Acute Abdomen: A Rare Presentation of Lung Cancer Metastasis

OpenAIRE

Guérin, E.; Gilbert, O.; Dequanter, D.

2009-01-01

Surgical emergencies caused by bowel metastases from carcinoma of the lung are very rare. We describe two cases of symptomatic gastrointestinal metastatic small cell carcinoma: the first one concerns a 69-year-old man with an acute abdomen and the second is a 72-year-old man complaining of a gastric ulcer symptoms. We also discuss the current management and the prognosis of these patients.

Hydroa vacciniforme-like lymphoma with primarily periorbital swelling: 7 cases of an atypical clinical manifestation of this rare cutaneous T-cell lymphoma.

Science.gov (United States)

Plaza, Jose A; Sangueza, Martin

2015-01-01

Hydroa vacciniforme-like lymphoma (HVL) is a rare cutaneous T-cell lymphoma that is usually seen in children of Hispanic or Asian origin. Association between chronic latent Epstein-Barr virus infection in both hydroa vacciniforme (HV) and HVL has been demonstrated and has recently been categorized by the World Health Organization as one of the Epstein Barr virus-positive lymphoproliferative disorders of childhood. Patients with HVL present with a cutaneous rash characterized by edema, blisters, ulcers, and scars mainly seen on the face and extremities that mimic HV; however, unlike in HV, the lesions tend to be extensive and deeper and are associated with severe scarring, necrosis, and systemic manifestations. We are reporting 7 cases of an unusual clinical variant of HVL with primarily periorbital edema. All of our patients in this series presented with progressive periorbital edema that was accompanied with systemic symptoms including fever, malaise, and lymphadenopathy. Most cases were initially misinterpreted as inflammatory processes including cellulitis, arthropod bite reactions, and periorbital lupus erythematosus. The biopsy of these lesions revealed an atypical lymphocytic infiltrate predominantly distributed in the deep dermis and in subcutaneous fat. Immunohistochemistry studies revealed a cytotoxic T-cell (CD8) profile. All cases were associated with Epstein-Barr virus infection. Our study presents a rare clinical variant of HVL with predominant periorbital edema. This variant could potentially be overlooked and misdiagnosed as an inflammatory condition; thus, it needs to be included in the differential diagnosis of periorbital edema in young patients.

Graves' disease presenting as pseudotumor cerebri: a case report

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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.

The rare presentations of a large polyp and an esophageal carcinoma in heterotropic gastric mucosa: a case series

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Alagozlu Hakan

2007-11-01

Full Text Available Abstract Background Heterotopic gastric mucosa (HGM is commonly seen in the upper esophagus during endoscopyand is generally considered a benign disease. A hyperplastic polyp and an adenocarcinoma arising in heterotopic gastric mucosa are quite rare occurences. Case presentations We present two cases: The first is a patient who suffered from dysphagia because of a large hyperplastic polyp that arose from HGM; the polyp was excised endoscopically. Secondly, we report a rare case of adenocarcinoma arising in HGM of the cervical esophagus. Conclusion Morphologic changes or malignant transformation can develop in the inlet patch. Therefore, gastroenterologists should be aware of the possibility of HGM just distal to the upper esophageal sphincter.

Multiple sclerosis exceptionally presenting as parkinsonism responds to intravenous methylprednisolone.

LENUS (Irish Health Repository)

Saidha, S

2012-01-31

Parkinsonism due to multiple sclerosis (MS) is rare. In previously reported patients with MS-induced parkinsonism, MS manifested first, followed a typical clinical course, and parkinsonism developed later in the course of the illness. We report a 52-year-old male presenting with parkinsonism as the initial manifestation of MS, in whom a subsequent MS relapse consisted of marked deterioration in parkinsonism, a clinical pattern not previously described in MS. A brain MRI demonstrated involvement of the substantia nigra and basal ganglia. This patient illustrates that the clinical presentation and progression of MS may rarely be characterised by predominating parkinsonian features which are reversible by treatment with intravenous methylprednisolone and interferon beta1a.

Multiple sclerosis exceptionally presenting as parkinsonism responds to intravenous methylprednisolone.

LENUS (Irish Health Repository)

Saidha, S

2010-05-01

Parkinsonism due to multiple sclerosis (MS) is rare. In previously reported patients with MS-induced parkinsonism, MS manifested first, followed a typical clinical course, and parkinsonism developed later in the course of the illness. We report a 52-year-old male presenting with parkinsonism as the initial manifestation of MS, in whom a subsequent MS relapse consisted of marked deterioration in parkinsonism, a clinical pattern not previously described in MS. A brain MRI demonstrated involvement of the substantia nigra and basal ganglia. This patient illustrates that the clinical presentation and progression of MS may rarely be characterised by predominating parkinsonian features which are reversible by treatment with intravenous methylprednisolone and interferon beta1a.

Fryns anophthalmia-plus syndrome: two rare cases.

Science.gov (United States)

Bozkurt, O; Bidev, D; Sari, F N; Dizdar, E A; Ulu, H O; Uras, N; Oguz, S S; Canpolat, F E; Dilmen, U

2014-01-01

Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/microphthalmia, facial clefts, cleft lip/palate, ear and nasal deformities. Here we present two different cases of APS with anopthalmia/microphthalmia, cleft palate, low set ears, ventriculomegaly and one of which had intestinal non-fixation anomaly not described in the literature before.

Microfibrillar cardiomyopathy: A rare case

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Narender Kumar

2011-01-01

Full Text Available Microfibrillar cardiomyopathy is a very rare cause of restrictive cardiomyopathy (RCM. The index case was a male patient who presented with shortness of breath and pedal edema. Further clinical investigations favored a clinical diagnosis of RCM. An endomyocardial biopsy revealed subendocardial and interstitial hyaline eosinophillic material resembling amyloid that did not stain with Congo red. An electron microscopic examination showed that this material was composed of twisted linear and bundles of tangled microfibrils. The etiology of the microfibrillar deposition is currently unknown. The pathologists should entertain the diagnosis of microfibrillar cardiomyopathy in suspected cases of amyloidosis that are negative for Congo red.

Intracranial dural arterio-venous fistula presenting with progressive myelopathy.

LENUS (Irish Health Repository)

Ogbonnaya, Ebere Sunny

2011-01-01

Spinal dural arterio-venous fistula (DAVF) is rare and usually involves the thoracic segments. The classical presentation is a slowly progressive ataxia. Clinical presentation of intracranial DAVF depends on the site of the DAVF, as well as the vessels involved. Patients may present with pulsatile tinnitus, occipital bruit, headache, dementia, visual impairment as well as neurological deterioration distant from the DAVF as a result of venous hypertension and cortical haemorrhage. The authors present a rare case of progressive myelopathy secondary to an intracranial DAVF.

Clinical Presentations of Acute Leukemia

International Nuclear Information System (INIS)

Shahab, F.; Raziq, F.

2014-01-01

Objective: To document the clinical presentation and epidemiology of various types of acute leukemia with their respective referral source at a tertiary level centre in Peshawar. Study Design: An observational study. Place and Duration of Study: Department of Pathology, Hayatabad Medical Complex (HMC), Peshawar, from January 2011 to May 2012. Methodology: A total of 618 bone marrow biopsy reports were reviewed. All biopsy reports labeled as acute leukemia were reviewed for age, gender, address, referring unit, diagnosis on bone marrow examination, presenting complaints, duration of illness and findings of clinical examination. Results: Ninety-two patients were diagnosed as suffering from acute leukemias (15%). ALL was most prevalent (46%), followed by AML (38%) and undifferentiated acute leukemia (16%). Males were affected more compared to females (60% vs. 40%). ALL and AML were predominant in pediatric (64%) and adults (77%) patients respectively. Patients from Afghanistan accounted for 33% of all cases followed by Peshawar (14%). Fever (77%), pallor (33%) and bleeding disorders (23%) were the main presenting complaints. Enlargement of liver, spleen and lymph nodes together was associated with ALL compared with AML (p = 0.004). Conclusion: ALL-L1 and AML-M4 were the most common sub-types. Fever, pallor and bleeding disorders were the main presenting complaints. Enlargement of liver, spleen and lymph nodes was more frequently associated with ALL compared to AML. (author)

Late onset ‘en coup de sabre’ following trauma: Rare presentation of a rare disease

OpenAIRE

Tasleem Arif; Imran Majid; Mir Laieq Ishtiyaq Haji

2015-01-01

En coup de sabre (linear scleroderma of face) is a rare type of morphea (localized scleroderma) involving frontoparietal area of the forehead and scalp. Many triggering factors have been implicated in the development of morphea like trauma, immobilization, bacille Calmette–Guérin (BCG) vaccination, injections of vitamin K, mechanical compression from clothing, etc. Linear scleroderma primarily affects the pediatric population, with 67% of patients diagnosed before 18 years of age....

RARE DISEASES AND GENETIC DISCRIMINATION

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Mariela Yaneva – Deliverska

2011-04-01

physicians (not enough physicians involved in rare diseases clinical trials, and the absence of treatment consensus recommendations.It is fundamental to realise that rare diseases can affect any family at any time. It is not just “something terrible that happens to other people”. It is a very cruel reality that can happen to anyone, either when having a child or in the course of one’s own life.In fact, the terminology “rare diseases” only highlights the characteristic of rarity of the complex and heterogeneous mosaic of an estimated 7,000 life-threatening and heavily debilitating conditions.The rare diseases for which a simple and effective preventive treatment is available are being screened for, as part of public health policy. But this is not enough, and it is essential for public authorities to consider rare diseases as a Public Health priority and take action to concretely support patients and families affected by rare diseases.As underlined in the Background Paper on Orphan Diseases for the World Health Organisation Report on Priority Medicines for Europe and the World, “despite the growing public awareness of rare diseases in the last one or two decades, there are still many gaps in knowledge related to the development of treatment for rare diseases. Policymakers have to realise that rare diseases are a crucial health issue for about 30 million people in the EU”.A good medication for rare disease patients is a medication that is both available in the country where they live and affordable. If one of these two factors is missing, the drug is of little use.Personalized medicine however is an emerging term for a medical philosophy that uses a person’s individual clinical, genetic, genomic, and environmental information to tailor a treatment plan that will maximize efficacy and safety for that individual. While the technology offers much promise, it also is also challenged by some ethical and social questions in both its clinical application and in its

Gallbladder volvulus in a child with mild clinical presentation

International Nuclear Information System (INIS)

Inoue, Seiichiro; Odaka, Akio; Hashimoto, Daijo; Tamura, Masanori; Osada, Hisato

2011-01-01

Gallbladder volvulus in children is rare. Pre-operative diagnosis is considered difficult because of the nonspecific symptoms and inflammatory blood analysis findings. Sometimes diagnosis is confirmed at laparotomy. Many reports mention that the chief complaints of this disease are sudden and severe abdominal pain. We report a case of gallbladder volvulus in a boy with mild clinical symptoms and laboratory data of nonspecific inflammation. A reconstructed coronal CT abdominal view showed clearly the gallbladder torsion. Laparoscopic cholecystectomy was performed and postoperative course was uneventful. Recent reports have suggested the effectiveness of MRI. This case highlights the utility of a reconstructed coronal view of abdominal CT in successful pre-operative diagnosis for gallbladder volvulus in children. (orig.)

Gallbladder volvulus in a child with mild clinical presentation

Energy Technology Data Exchange (ETDEWEB)

Inoue, Seiichiro; Odaka, Akio; Hashimoto, Daijo [Saitama Medical University, Department of Hepato-Biliary-Pancreatic and Pediatric Surgery, Saitama Medical Center, Kawagoe, Saitama (Japan); Tamura, Masanori [Saitama Medical University, Department of Pediatrics, Saitama Medical Center, Saitama (Japan); Osada, Hisato [Saitama Medical University, Department of Radiology, Saitama Medical Center, Saitama (Japan)

2011-01-15

Gallbladder volvulus in children is rare. Pre-operative diagnosis is considered difficult because of the nonspecific symptoms and inflammatory blood analysis findings. Sometimes diagnosis is confirmed at laparotomy. Many reports mention that the chief complaints of this disease are sudden and severe abdominal pain. We report a case of gallbladder volvulus in a boy with mild clinical symptoms and laboratory data of nonspecific inflammation. A reconstructed coronal CT abdominal view showed clearly the gallbladder torsion. Laparoscopic cholecystectomy was performed and postoperative course was uneventful. Recent reports have suggested the effectiveness of MRI. This case highlights the utility of a reconstructed coronal view of abdominal CT in successful pre-operative diagnosis for gallbladder volvulus in children. (orig.)

RARE BRANCHIAL ARCH ANOMALIES

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Jayanta Kumar

2016-03-01

Full Text Available AIM Amongst the branchial arch anomalies third arch anomaly occurs rarely and more so the fourth arch anomalies. We present our experience with cases of rare branchial arch anomalies. PATIENTS AND METHODS From June 2006 to January 2016, cases having their external opening in the lower third of sternocleidomastoid muscle with the tract going through thyroid gland and directing to pyriform sinus (PFS or cysts with internal opening in the PFS were studied. RESULTS No fourth arch anomaly was encountered. One cyst with internal opening which later on formed a fistula, three fistulae from beginning and two sinuses were encountered. The main stay of diagnosis was the fistula in the PFS and the tract lying posterior to the internal carotid artery. Simple excision technique with a small incision around the external opening was done. There was no recurrence. CONCLUSION Third arch fistula is not very rare as it was thought. Internal fistula is found in most of the cases. Though radiological investigations are helpful, fistulae can be diagnosed clinically and during operation. Extensive operation of the neck, mediastinum and pharynx is not required.

[Acute renal failure: a rare presentation of Addison's disease].

Science.gov (United States)

Salhi, Houda

2016-01-01

Addison's disease is a rare condition. Its onset of symptoms most often is nonspecific contributing to a diagnostic and therapeutic delay. Acute renal failure can be the first manifestation of this disease. We report the case of a patient with Addison's disease who was initially treated for acute renal failure due to multiple myeloma and whose diagnosis was adjusted thereafter. Patient's condition dramatically improved after treatment with intravenous rehydration; injectable hydrocortisone.

Avascular necrosis of femoral heads post-adrenal surgery for Cushing's syndrome: a rare presentation.

LENUS (Irish Health Repository)

2012-01-31

Avascular necrosis (AVN) is a well-recognized complication of patients on high-dose steroids for a long time. Exogenous hypercortisolism is a well known cause of AVN and a number of cases have been reported. Cushing\\'s syndrome describes hypercortisolism of any cause endogenous or exogenous. A variety of traumatic and non-traumatic factors contribute to the aetiology of AVN although exogenous glucocorticoids administration and alcoholism are among the most common non-traumatic causes. AVN secondary to endogenous hypercortisolism is rare and very few case reports are available describing this complication. No literature is available on AVN presenting post-adrenal surgery. Here we present a young woman who presented with avascular necrosis of both hips 1 year after adrenalectomy for Cushing\\'s syndrome.

Isolated unilateral sixth cranial nerve palsy: A rare presentation of dengue fever

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Yang Liang Boo

2016-11-01

Full Text Available Dengue fever is a common mosquito-borne viral infection endemic in tropical and subtropical countries. Neurological manifestations in dengue infection are relatively uncommon, and include encephalitis, encephalopathy, neuromuscular disorders and neuro-ocular disorders. Cranial mononeuropathy is a rare manifestation of dengue infection. A 40-year-old man was diagnosed with isolated, unilateral sixth cranial nerve palsy complicating dengue infection. The patient was managed accordingly, and full ocular recovery was observed. This was the first reported case of isolated sixth cranial nerve palsy associated with dengue fever in Malaysia. It is important for clinicians to consider dengue as a differential diagnosis in patients presenting with fever and sixth cranial nerve palsy.

Cutaneous sporotrichosis: Unusual clinical presentations

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Mahajan Vikram

2010-01-01

Full Text Available Three unusual clinical forms of sporotrichosis described in this paper will be a primer for the clinicians for an early diagnosis and treatment, especially in its unusual presentations. Case 1, a 52-year-old man, developed sporotrichosis over pre-existing facial nodulo-ulcerative basal cell carcinoma of seven-year duration, due to its contamination perhaps from topical herbal pastes and lymphocutaneous sporotrichosis over right hand/forearm from facial lesion/herbal paste. Case 2, a 25-year-old woman, presented with disseminated systemic-cutaneous, osteoarticular and possibly pleural (effusion sporotrichosis. There was no laboratory evidence of tuberculosis and treatment with anti-tuberculosis drugs (ATT did not benefit. Both these cases were diagnosed by histopathology/culture of S. schenckii from tissue specimens. Case 3, a 20-year-old girl, had multiple intensely pruritic, nodular lesions over/around left knee of two-year duration. She was diagnosed clinically as a case of prurigo nodularis and histologically as cutaneous tuberculosis, albeit, other laboratory investigations and treatment with ATT did not support the diagnosis. All the three patients responded well to saturated solution of potassium iodide (SSKI therapy. A high clinical suspicion is important in early diagnosis and treatment to prevent chronicity and morbidity in these patients. SSKI is fairly safe and effective when itraconazole is not affordable/ available.

Chlorpyrifos-Induced Delayed Neurotoxicity with A Rare Presentation of Flaccid Quadriplegia: A Diagnostic Challenge

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Patrícia Afonso Mendes

2017-10-01

Full Text Available Chlorpyrifos is an organophosphate compound recognized as causing acute toxicity. However, organophosphate-induced delayed polyneuropathy (OPIDP, although rare, has also been described. We describe an unusual presentation of OPIDP with flaccid quadriplegia progressing to a locked-in-like syndrome, 30 days after a 60-year-old man voluntarily ingested chlorpyrifos. In the absence of specific treatment, the patient only recovered partial motor responses and the ability to communicate. The authors present this report in order to highlight a form of OPIDP which can hinder diagnosis due to its atypia and the delay in the onset of symptoms from initial contact with the toxicant.

Simultaneous meningioma and brain metastasis from renal cell carcinoma – a rare presentation. Case report

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Aline Lariessy Campos Paiva

2017-05-01

Full Text Available ABSTRACT CONTEXT: Brain metastases are the most common tumors of the central nervous system. Because of their high frequency, they may be associated with rare situations. Among these are tumor-to-tumor metastasis and an even a rarer situation called simultaneous brain tumors, which are more related to primary tumors of the reproductive and endocrine systems. CASE REPORT: A 56-year-old male patient with a history of renal cell carcinoma (which had previously been resected presented with a ventricular lesion (suggestive of metastatic origin and simultaneous olfactory groove lesion (probably a meningioma. First, only the ventricular lesion was dealt with, but after a year, the meningothelial lesion increased and an occipital lesion appeared. Therefore, both of these were resected in a single operation. All the procedures were performed by the same neurosurgeon. The patient evolved without neurological deficits during the postoperative period. After these two interventions, the patient remained well and was referred for adjuvant treatment. CONCLUSIONS: This study provides the first description of an association between these two tumors. Brain metastases may be associated with several lesions, and rare presentations such as simultaneity with meningioma should alert neurosurgeons to provide the best oncological treatment.

Endodontic microsurgery, presentation of a clinical case

International Nuclear Information System (INIS)

Zeledon Mayorga, Rodolfo

2009-01-01

A literature review is conducted on endodontic surgery. The report of a clinical case is facilitated. The technique chosen according to the clinical and radiographic examination was endodontic microsurgery, the case has presented a positive evolution of four years [es

Normothermic thyroid storm: an unusual presentation

Science.gov (United States)

Sabir, Anas Ahmad; Sada, Kabiru; Yusuf, Bashir O.; Aliyu, Idris

2016-01-01

Thyroid storm is a rare life-threatening emergency due to thyrotoxicosis. A 30-year-old female presented with restlessness, tachycardia and vomiting but with normothermia which is an unusual presentation. There is the need for clinicians to be aware of atypical clinical features that can make the diagnosis of thyroid storm difficult. PMID:27540465

Adapting Knowledge Translation Strategies for Rare Rheumatic Diseases.

Science.gov (United States)

Cellucci, Tania; Lee, Shirley; Webster, Fiona

2016-08-01

Rare rheumatic diseases present unique challenges to knowledge translation (KT) researchers. There is often an urgent need to transfer knowledge from research findings into clinical practice to facilitate earlier diagnosis and better outcomes. However, existing KT frameworks have not addressed the specific considerations surrounding rare diseases for which gold standard evidence is not available. Several widely adopted models provide guidance for processes and problems associated with KT. However, they do not address issues surrounding creation or synthesis of knowledge for rare diseases. Additional problems relate to lack of awareness or experience in intended knowledge users, low motivation, and potential barriers to changing practice or policy. Strategies to address the challenges of KT for rare rheumatic diseases include considering different levels of evidence available, linking knowledge creation and transfer directly, incorporating patient and physician advocacy efforts to generate awareness of conditions, and selecting strategies to address barriers to practice or policy change.

Clinical presentation of infants hospitalised with pertussis | Kahl ...

African Journals Online (AJOL)

Background. Despite the widespread use of pertussis vaccine, there has been a resurgence of pertussis cases in developed and developing countries. South Africa lacks data regarding clinical presentation and healthcare impact of pertussis. Objectives. To describe the clinical presentation and healthcare impact in ...

Adult Presentation of Dyke-Davidoff-Masson Syndrome: A Case Report

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Ujjawal Roy

2016-01-01

Full Text Available Dyke-Davidoff-Masson syndrome (DDMS is a rare disease which is clinically characterized by hemiparesis, seizures, facial asymmetry, and mental retardation. The classical radiological findings are cerebral hemiatrophy, calvarial thickening, and hyperpneumatization of the frontal sinuses. This disease is a rare entity, and it mainly presents in childhood. Adult presentation of DDMS is unusual and has been rarely reported in the medical literature. Key Messages: DDMS is a rare disease of childhood. However, it should be kept in mind as a diagnostic possibility in an adult who presents with a long duration of progressive hemiparesis with seizures and mental retardation. Cerebral hemiatrophy, calvarial thickening, and hyperpneumatization of the frontal sinuses are diagnostic for this illness on brain imaging.

Dynamic bowel obstruction: aetiology, clinical presentation ...

African Journals Online (AJOL)

This study was conducted to describe in our region, the aetiology, clinical presentation, management and outcome of dynamic bowel obstruction. Data were analyzed using SPSS software system. A total of 342 patients were studied. Males outnumbered females by a ratio of 2.1: 1. The median age of patients at presentation ...

Rare causes of scoliosis and spine deformity: experience and particular features

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Pliarchopoulou Fani M

2007-10-01

Full Text Available Abstract Background Spine deformity can be idiopathic (more than 80% of cases, neuromuscular, congenital or neurofibromatosis-related. However, there are many disorders that may also be involved. We present our experience treating patients with scoliosis or other spine deformities related to rare clinical entities. Methods A retrospective study of the records of a school-screening study in North-West Greece was performed, covering a 10-year period (1992–2002. The records were searched for patients with deformities related to rare disorders. These patients were reviewed as regards to characteristics of underlying disorder and spine deformity, treatment and results, complications, intraoperative and anaesthesiologic difficulties particular to each case. Results In 13 cases, the spine deformity presented in relation to rare disorders. The underlying disorder was rare neurological disease in 2 cases (Rett syndrome, progressive hemidystonia, muscular disorders (facioscapulohumeral muscular dystrophy, arthrogryposis in 2 patients, osteogenesis imperfecta in 2 cases, Marfan syndrome, osteopetrosis tarda, spondyloepiphyseal dysplasia congenita, cleidocranial dysplasia and Noonan syndrome in 1 case each. In 2 cases scoliosis was related to other congenital anomalies (phocomelia, blindness. Nine of these patients were surgically treated. Surgery was avoided in 3 patients. Conclusion This study illustrates the fact that different disorders are related with curves with different characteristics, different accompanying problems and possible complications. Investigation and understanding of the underlying pathology is an essential part of the clinical evaluation and preoperative work-up, as clinical experience at any specific center is limited.

Hypothyroid myopathy: A peculiar clinical presentation of thyroid failure. Review of the literature.

Science.gov (United States)

Sindoni, Alessandro; Rodolico, Carmelo; Pappalardo, Maria Angela; Portaro, Simona; Benvenga, Salvatore

2016-12-01

Abnormalities in thyroid function are common endocrine disorders that affect 5-10 % of the general population, with hypothyroidism occurring more frequently than hyperthyroidism. Clinical symptoms and signs are often nonspecific, particularly in hypothyroidism. Muscular symptoms (stiffness, myalgias, cramps, easy fatigability) are mentioned by the majority of patients with frank hypothyroidism. Often underestimated is the fact that muscle symptoms may represent the predominant or the only clinical manifestation of hypothyroidism, raising the issue of a differential diagnosis with other causes of myopathy, which sometimes can be difficult. Elevated serum creatine kinase, which not necessarily correlates with the severity of the myopathic symptoms, is certainly suggestive of muscle impairment, though it does not explain the cause. Rare muscular manifestations, associated with hypothyroidism, are rhabdomyolysis, acute compartment syndrome, Hoffman's syndrome and Kocher-Debré-Sémélaigne syndrome. Though the pathogenesis of hypothyroid myopathy is not entirely known, proposed mechanisms include altered glycogenolytic and oxidative metabolism, altered expression of contractile proteins, and neuro-mediated damage. Correlation studies of haplotype, muscle gene expression and protein characterization, could help understanding the pathophysiological mechanisms of this myopathic presentation of hypothyroidism.

Central nervous system tuberculomata presenting as internuclear ...

African Journals Online (AJOL)

Central nervous system (CNS) tuberculoma can have variable presentation depending upon the site and number of tuberculomata. We are reporting a rare case of a 15 years old girl who presented to our hospital with binocular diplopia on right gaze. Clinical examination revealed left sided internuclear ophthalmoplegia ...

Acromegaly without acral changes: A rare presentation

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Nilanjan Sengupta

2012-01-01

Full Text Available Acromegaly is diagnosed clinically by the universal presence of acral enlargement and typical coarse facies. We report a short, elderly female developing acromegalic facies for last 10 years without acral overgrowth. She is a patient of primary hypothyroidism, well controlled for last 20 years. Acromegaly was proven by high level of serum insulin like growth factor-1 (IGF-1 and elevated and nonsuppressed level of growth hormone (GH, with other hormonal profile being undisturbed. She had mild insulin resistance and systemic hypertension in absence of any visual field defect. Magnetic resonance imaging (MRI of brain revealed pituitary hyperplasia without any detectable adenoma. No source of ectopic secretion of GH or growth hormone releasing hormone (GHRH could be localized. Therefore, atypical presentation of acromegaly needs high degree of suspicion even if some of the common features are lacking. Here, we have biochemically proved acromegaly with typical facies, short stature but no acral overgrowth and pituitary adenoma despite longstanding disease activity, and thus eluding diagnosis for years.

A rare presentation of patent ductus arteriosus in an adult patient with normal pulmonary hypertension and limb edema

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Bahram Pishgoo

2014-09-01

Full Text Available BACKGROUND: Patent ductus arteriosus (PDA at childhood is one of the five major and frequent congenital abnormalities, but it can be rarely seen in adults. Pulmonary hypertension (PHTN and other presentations such as heart failure and edema are the identified complications of longstanding PDA, but adult case with no permanent heart symptoms and PHTN was rare. We reported a rare case of with an obvious PDA and normal pulmonary pressure. CASE REPORT: A 61-year-old woman presented with dyspnea (New York Heart Association class 2, chest pain, and lower limb edema. Echocardiogram showed; normal left ventricular chamber size and function, normal size of both atria. Furthermore, an obvious PDA (diameter = 6-7 mm connecting the aortic arch to the pulmonary artery was reported in echocardiography. No lung congestion and evidence for PHTN was reported by computed tomographic angiography [Pulmonary capillary wedge pressure (PCWP = 30 mmHg]. The patient was treated with antihypertensive drugs and after 1 and 3 months follow-up, edema and other symptoms were resolved. CONCLUSION: Finally, we conclude that PDA in adulthood can present with nonspecific cardiovascular symptoms, and it seems that PHTN is not a fixed echocardiographic finding in these patients.   Keywords: Adults, Edema, Patent Ductus Arteriosus eri, Pulmonary Hypertension  Normal 0 false false false EN-US X-NONE AR-SA

Clinical presentation and characteristics of 25 adult cases of pulmonary sequestration.

Science.gov (United States)

Polaczek, Mateusz; Baranska, Inga; Szolkowska, Malgorzata; Zych, Jacek; Rudzinski, Piotr; Szopinski, Janusz; Orlowski, Tadeusz; Roszkowski-Sliz, Kazimierz

2017-03-01

Pulmonary sequestration (PS) is a rare congenital abnormality of lung tissue. Only few series of adult cases are reported. The aim was to describe clinical characteristics in adult cases of PS and to compare outcomes in different clinical situations. Using MSD engine we searched for cases of PS that have been diagnosed between Jan 1st, 2005 and Dec 31st, 2015. Clinical data was retrospectively gathered. Statistica v.12 (StatSoft, Inc.) was used for statistical analyses. We found 25 cases (18 females, 7 males), which underwent surgery and were histologically proven. There were 22 cases of intralobar PS. 7 cases were asymptomatic, 12 had infectious history (including 3 cases of lung abscess and pleural empyema), 4 presented with hemoptysis, 2 with chest pain. The average age to undergo surgery was 38.24, in the asymptomatic group 34, in symptomatic 39.89. In the latter the symptoms preceded the surgery for 2.45-year. Great majority of sequestrations was located in lower lobes (96%), 52% on the left. Symptomatic cases were at higher than expected risk of surgical complications, comparing to asymptomatic (chi 2 , P=0.04). In most cases there were surgical and histological signs of infection, only in 9 cases etiological factor was determined: in 5 cases it was A. fumigatus . A 0.53-day longer post-surgical hospital stay was observed in the symptomatic group, no statistical significance was found (U-test, P=0.45). Surgical treatment of symptomatic cases of PS is characterized by slightly longer post-surgical hospital stay and higher risk of surgical complications. Fungal infections are the most likely to occur in PS.

Soft tissue chondroma: a rare tumor presenting as a cutaneous nodule

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Dibakar Podder

2015-04-01

Full Text Available Soft tissue chondroma (STC, also known as extraskeletal chondroma or chondroma of soft parts is a benign cartilaginous tumor which arise de novo from soft tissue. Also, it is an extremely rare entity predominantly involving extremities, especially fingers. A 26 year old male presented with 3 year history of swelling in left index finger. On local examination a hard 2 × 2 cm swelling was seen over the volar aspect of left 2nd proximal phalanx. Swelling was mobile on contraction of tendons. X-ray showed a soft tissue shadow on volar aspect of left second proximal phalanx. Histopathology showed a well encapsulated, hypo cellular nodule composed of benign chondrocytes surrounded by hyaline chondroid matrix. Nuclear pleomorphism, mitosis or necrosis was not seen. Based on radiological and histopathological findings a diagnosis of STC was made. STC should be considered in patients with slow growing, soft tissue masses.

Small cell extraskeletal osteosarcoma: a rare case report

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Neelam Sood

2014-01-01

Full Text Available Extraskeletal osteosarcoma is a rare malignant mesenchymal neoplasm and its small cell variant is one among the rarest variant. This article describes a 60-year-old woman presenting with a large, lobulated, painful mass in left thigh with associated history of trauma since 18 months. Her magnetic resonance imaging showed a variegated mixed intensity lesion with associated cystic degeneration, necrosis and matrix arborizing nearby muscles. Fine needle aspiration cytology showed a small cell lesion with very scant osteoid. Tumor was excised and histopathological diagnosis was small cell osteosarcoma involving adjacent muscles and fat with sparing of lymph nodes. The aim of this article is to present the clinical, radiological, cyto-histological and immunohistochemical features of this extremely rare lesion.

Isolated peritoneal hydatidosis clinically mimicking ovarian tumor: A rare case report

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Pradhan M Pagaro

2014-01-01

Full Text Available Hydatid cyst disease is rare and it is a parasitic infection where humans accidentally get infected by ingesting larval forms of parasite whereas, the definitive hosts are dog. The common sites of hydatid cyst are liver, lungs, spleen. Unusual sites of the hydatid cyst is reported in subcutaneous tissue of anterior abdominal wall, peritoneum. We report an unusual form of the primary hydatid cyst disease involving peritoneum in a 65-year-old female, presenting as swelling in the abdomen since 3 months. Sonography revealed a cystic mass and diagnosis of ovarian tumor was considered. The Cancer Antigen 125 (CA--125, an ovarian malignant marker was normal. Exploratory laprotomy was carried out. Cytological examination, gross, and the histopathological findings suggested the diagnosis of hydatid cyst disease involving only peritoneum. Primary isolated hydatidosis involving peritoneum is very rare and only few cases have been reported. Moreover, it mimics other tumors of the abdomen like in our case we considered it as an ovarian tumor.

Congenital hypothyroidism presenting with postpartum bradycardia

International Nuclear Information System (INIS)

Kara, S.; Tayman, C.; Tonbul, A.; Tatli, M.; Andiran, N.; Turkay, S.

2013-01-01

Congenital hypothyroidism is a clinical condition characterized by lack of thyroid hormone because of thyroid gland developmental and thyroid hormone biosynthesis disorders. The most common cause of permanent hypothyroidism is congenital factors. Prompt diagnosis is critical. However, overt signs of hypothyroidism are rarely present at birth, and 95% of affected babies are asymptomatic. Hypoxemia, apnea, acidosis, increased intracranial pressure, vagal stimulus and central nerve system abnormalities represent the most common causes of bradycardia in the neonate. Bradycardia associated with congenital hypothyroidism is very rare. In this paper, a case of severe congenital hypothyroidism, induced by maternal blocker antibodies, who presented with bradycardia, is reported. (author)

Primary Bladder Neurofibroma: A Rare Case with Clinical Implications and Diagnostic Challenges.

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Umakanthan, Srikanth; Naik, Ramadas; Bukelo, Maryann Margaret; Rai, Sharada; Prabhu, Laxman

2015-09-01

Neurofibroma of the genito-urinary tract is rare. Urinary bladder is the commonest organ involved in cases of urinary tract involvement. Patients present early in life and there is male preponderance. We discuss here a case of primary neurofibroma of the urinary bladder in a 52-year-male presenting with haematuria, irritative bladder symptoms and pelvic mass. Cystoscopy showed a swelling in the left lateral wall. A transurethral biopsy revealed neurofibroma of the urinary bladder. Immunohistochemical studies confirmed the diagnosis.

Rare earth germanates

International Nuclear Information System (INIS)

Bondar', I.A.; Vinogradova, N.V.; Dem'yanets, L.N.

1983-01-01

Rare earth germanates attract close attention both as an independent class of compounds and analogues of a widely spread class of natural and synthetic minerals. The methods of rare earth germanate synthesis (solid-phase, hydrothermal) are considered. Systems on the basis of germanium and rare earth oxides, phase diagrams, phase transformations are studied. Using different chemical analysese the processes of rare earth germanate formation are investigated. IR spectra of alkali and rare earth metal germanates are presented, their comparative analysis being carried out. Crystal structures of the compounds, lattice parameters are studied. Fields of possible application of rare earth germanates are shown

A rare nasal cavity mass in a child: Accessory middle turbinate

OpenAIRE

Chang, Andrew; Ulualp, Seckin O; Koral, Korgun; Veling, Maria

2016-01-01

Objectives: The accessory middle turbinate, a rare anatomical variation of the nasal cavity, have been systematically studied in adults. Presence of accessory middle turbinate and its clinical significance in a child has not been reported. We describe clinical appearance and radiologic features of accessory middle turbinate in a child. Methods: Retrospective chart review. Results: A 3-year-old boy presented to the otolaryngology clinic for evaluation of recurrent epistaxis. Anterior rhinoscop...

Amyand’s Hernia: Rare Presentation of a Common Ailment

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Sanjeev Singhal

2015-01-01

Full Text Available Inguinal hernia with vermiform appendix as content is known as Amyand’s hernia. It is a rare entity but we encountered four cases within six months. A 52-year-old female had high grade fever and evidence of inflammatory pathology involving the ileocaecal region. She was initially managed conservatively and subsequently underwent exploratory laparatomy. The appendix was perforated and herniating in the inguinal canal. Appendectomy was done with herniorrhaphy without mesh placement. A 74-year-old male with bilateral inguinal hernia, of which, the right side was more symptomatic, underwent open exploration. Operative findings revealed a lipoma of the sac and a normal appearing appendix as content. Contents were reduced without appendectomy and mesh hernioplasty was performed. A 63-year-old male with an obstructed right sided hernia underwent emergency inguinal exploration which revealed edematous caecum and appendix as content without any inflammation. Contents were reduced without any resection. Herniorrhaphy was performed without mesh placement. A 66-year-old male with an uncomplicated right inguinal hernia underwent elective surgery. The sac revealed an appendix with adhesions at the neck. Contents were reduced after adhesiolysis and hernioplasty was performed with mesh placement. Emphasis is made to the rarity of disease, variation in presentation, and difference in treatment modalities depending upon the state of appendix.

A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome.

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Mohd Nor, Noor Shafina; Jalaludin, Muhammad Yazid

2016-01-01

47 XXY/46 XX mosaicism with characteristics suggesting Klinefelter syndrome is very rare and at present, only seven cases have been reported in the literature. We report an Indian boy diagnosed as variant of Klinefelter syndrome with 47 XXY/46 XX mosaicism at age 12 years. He was noted to have right cryptorchidism and chordae at birth, but did not have surgery for these until age 3 years. During surgery, the right gonad was atrophic and removed. Histology revealed atrophic ovarian tissue. Pelvic ultrasound showed no Mullerian structures. There was however no clinical follow up and he was raised as a boy. At 12 years old he was re-evaluated because of parental concern about his 'female' body habitus. He was slightly overweight, had eunuchoid body habitus with mild gynaecomastia. The right scrotal sac was empty and a 2mls testis was present in the left scrotum. Penile length was 5.2 cm and width 2.0 cm. There was absent pubic or axillary hair. Pronation and supination of his upper limbs were reduced and x-ray of both elbow joints revealed bilateral radioulnar synostosis. The baseline laboratory data were LH XX[67] with SRY positive. Laparoscopic examination revealed no Mullerian structures. Insisting on an adequate number of cells (at least 50) to be examined during karyotyping is important so as not to miss diagnosing mosaicism.

Neurenteric cyst - a case report of this rare disorder

NARCIS (Netherlands)

Schurink, M.; van Herwaarden-Lindeboom, M. Y. A.; Coppes, M. H.; Veldhuizen, A. G.; Koetse, H. A.; de Langen, Z. J.

Neurenteric cysts are rare congenital lesions that are believed to be the result of the split notochord syndrome. We report the clinical case of a 5-year-old boy presenting with vague gastrointestinal symptoms and fatigue, who had undergone resection of a small intestine duplication cyst as a

Sirenomelia: A Rare Presentation

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Srinivas, S; Kumar, Shiva; Reddy, Surweshwar; Prasad, Hari; Irfan, G M

2012-01-01

We are presenting two cases of Sirenomelia (Mermaid Syndrome), which is an extreme example of the caudal regression syndrome. It invariably presents with lower limb fusion, sacral and pelvic bony anomalies, absent external genitalia, imperforate anus, and renal agenesis or dysgenesis. There are approximately 300 cases reported in the literature, 15% of which are associated with twinning, most often monozygotic. The syndrome of caudal regression is thought to be the result of injury to the caudal mesoderm early in gestation. One of our cases survived for 12 days after birth. This new born had an unusually high anorectal anomaly in which the colon was ending at the level of mid transverse colon, fused lower limbs and genital anomalies. Ultrasound of the abdomen revealed horseshoe kidney. Colostomy was performed on day 2 of life. The second case encountered was a stillborn baby on whom an autopsy was performed. PMID:26023366

Sirenomelia: a rare presentation.

Science.gov (United States)

Reddy, K Ramesh; Srinivas, S; Kumar, Shiva; Reddy, Surweshwar; Prasad, Hari; Irfan, G M

2012-01-01

We are presenting two cases of Sirenomelia (Mermaid Syndrome), which is an extreme example of the caudal regression syndrome. It invariably presents with lower limb fusion, sacral and pelvic bony anomalies, absent external genitalia, imperforate anus, and renal agenesis or dysgenesis. There are approximately 300 cases reported in the literature, 15% of which are associated with twinning, most often monozygotic. The syndrome of caudal regression is thought to be the result of injury to the caudal mesoderm early in gestation. One of our cases survived for 12 days after birth. This new born had an unusually high anorectal anomaly in which the colon was ending at the level of mid transverse colon, fused lower limbs and genital anomalies. Ultrasound of the abdomen revealed horseshoe kidney. Colostomy was performed on day 2 of life. The second case encountered was a stillborn baby on whom an autopsy was performed.

Rare earth metals, rare earth hydrides, and rare earth oxides as thin films

International Nuclear Information System (INIS)

Gasgnier, M.

1980-01-01

The review deals with pure rare earth materials such as rare earth metals, rare earth hydrides, and rare earth oxides as thin films. Several preparation techniques, control methods, and nature of possible contaminations of thin films are described. These films can now be produced in an extremely well-known state concerning chemical composition, structure and texture. Structural, electric, magnetic, and optical properties of thin films are studied and discussed in comparison with the bulk state. The greatest contamination of metallic rare earth thin films is caused by reaction with hydrogen or with water vapour. The compound with an f.c.c. structure is the dihydride LnH 2 (Ln = lanthanides). The oxygen contamination takes place after annealing at higher temperatures. Then there appears a compound with a b.c.c. structure which is the C-type sesquioxide C-Ln 2 O 3 . At room atmosphere dihydride light rare earth thin films are converted to hydroxide Ln(OH) 3 . For heavy rare earth thin films the oxinitride LnNsub(x)Osub(y) is observed. The LnO-type compound was never seen. The present review tries to set the stage anew for the investigations to be undertaken in the future especially through the new generations of electron microscopes

Rare earths as a future resource

International Nuclear Information System (INIS)

Cornell, D.H.

1988-01-01

The fourteen rare earth or lanthanide elements have recently emerged as an important natural resource because of the rapidly growing demand in the electronic, chemical and metallurgical industries. The Symposium on rare earth elements as a future resource presented a multidisciplinary review of rare earth chemistry, geology, beneficiation, industrial applications and marketing. Papers by experts in many fields were presented on the following topics: chemical properties of the rare earth elements; the analysis of rare earth elements and minerals; beneficiation and extraction of rare earth elements; economic geochemistry and mineralogy of rare earths; present industrial uses of rare earth elements; the role of rare earth elements in high-temperature superconductors; the technical application of high-temperature superconductors; supply and demand for rare earth products - now and in the future, and the geology of rare earth deposits

The European Prader-Willi Syndrome Clinical Research Database: An Aid in the Investigation of a Rare Genetically Determined Neurodevelopmental Disorder

Science.gov (United States)

Holland, A.; Whittington, J.; Cohen, O.; Curfs, L.; Delahaye, F.; Dudley, O.; Horsthemke, B.; Lindgren, A. -C.; Nourissier, C.; Sharma, N.; Vogels, A.

2009-01-01

Background: Prader-Willi Syndrome (PWS) is a rare genetically determined neurodevelopmental disorder with a complex phenotype that changes with age. The rarity of the syndrome and the need to control for different variables such as genetic sub-type, age and gender limits clinical studies of sufficient size in any one country. A clinical research…

A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.

Science.gov (United States)

Tzoufi, Meropi; Makis, Alexandros; Chaliasos, Nikolaos; Nakou, Iliada; Siomou, Ekaterini; Tsatsoulis, Agathoklis; Zikou, Anastasia; Argyropoulou, Maria; Bonnefont, Jean Paul; Siamopoulou, Antigone

2013-04-01

Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA deletion syndrome defined as the presence of ophthalmoplegia, pigmentary retinopathy, onset less than age 20 years, and one of the following: cardiac conduction defects, cerebellar syndrome, or cerebrospinal fluid protein above 100 mg/dl. KSS may affect many organ systems causing endocrinopathies, encephalomyopathy, sensorineural hearing loss, and renal tubulopathy. Clinical presentation at diagnosis is quite heterogeneous and, usually, few organs are affected with progression to generalized disease early in adulthood. We present the case of a boy with KSS presenting at the age of 5 years with myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome. The proper replacement treatment along with the administration of mitochondrial metabolism-improving agents had a brief ameliorating effect, but gradual severe multisystemic deterioration was inevitable over the next 5 years. This report highlights the fact that in case of simultaneous presentation of polyendocrinopathies and renal disease early in childhood, KSS should be considered.

KIKUCHI-FUJIMOTO DISEASE (KFD): A Rare Case Report

OpenAIRE

Dr. Gunja Jain; Dr. Mayank Gupta; Dr. Laxmikant Goyal; Dr. Jai Purohit; Dr. Sudhir Mehta

2017-01-01

Abstract— Kikuchi-Fujimoto disease (KFD) is a rare disease. It has a worldwide distribution with a higher prevalence in Asians. KFD is usually a self limiting disease and benign in nature. Clinically it presents as regional cervical lymphadenopathy and sometimes may presents as generalized lymphadenopathy as well. Night sweats and low grade fever may also be associated in some cases. A case of a 36 year old female had attended in SMS Hospital. She presented with fever, weight loss and tender ...

Clinical presentation of late haemorrhagic disease of newborn

International Nuclear Information System (INIS)

Majeed, R.; Memon, Y.; Majeed, F.

2008-01-01

To observe the clinical presentation of late haemorrhagic disease of the newborn (LHDNB), and clinical improvement after the administration of vitamin K/sub 1/. This is a prospective descriptive study. All the children older than seven days who presented with bleeding were admitted in pediatrics ward of Isra University Hyderabad from April 2006 to April 2007 were included. Data collection was done by means of detailed proforma. Analysis was done on SPSS version 11. Thirty five cases were included. Commonest site of bleeding was subcutaneous followed by oral and injection site. Mean age of late haemorrhagic disease of newborn was 109 days and minimum age of presentation was 28 days. Common clinical presentations were irritability, convulsions, poor reflexes and poor feeding. Mostly recovery was within 24 hours after vit K. Late HDN results in severe hemorrhage especially hemorrhage in the central nervous system. Administration of Vitamin K (1mg, 1M) at birth can present these severe complications. (author)

Case report: A rare case of focal myositis presenting as Sartorius muscle contracture: A case report and review of literature.

Science.gov (United States)

Wang, Jin; Jiao, Juyang; Zhao, Guanglei; Shi, Jingsheng; Xia, Jun

2018-05-01

Focal myositis (FM) is a very rare myopathy of unknown etiology characterized by focal enlargement within one single skeletal muscle. In particular, it occurs only involving the Sartorius muscle has never been reported. A 25-year-old man was admitted to the hospital with progressive restricted left hip joint extension, left thigh discomfort and gait disturbance for 6 years. Combining clinical manifestations with results of radiological and pathological examinations, it was consistent with the diagnosis of FM INTERVENTIONS:: The patient received a surgery under general anesthesia to release the contracted Sartorius tendon. The range of motion of the patient's left hip and ipsilateral knee has significantly improved as well as the discomfort of his left thigh relieved obviously after the surgery. This case report is the first to report FM presenting as sartorius muscle contracture and the surgery is an alternative therapy for these patients.

A Case Report Describing a Rare Presentation of Simultaneous Occurrence of MPO-ANCA-Associated Vasculitis and Rheumatoid Arthritis

OpenAIRE

Foray, Nathalie; Hudali, Tamer; Papireddy, Muralidhar; Gao, John

2016-01-01

Background. Renal-limited myeloperoxidase vasculitis with simultaneous rheumatoid arthritis is reported as a rare occurrence. Review of literature suggests that most patients had a diagnosis of rheumatoid arthritis for several years prior to presenting with renal failure from myeloperoxidase vasculitis. Case Presentation. A 58-year-old Caucasian male presented to the hospital experiencing malaise, fevers, decreased oral intake, nausea, and vomiting for one week duration. His past medical hist...

Identification of rare pathogenic bacteria in a clinical microbiology laboratory: impact of matrix-assisted laser desorption ionization-time of flight mass spectrometry.

Science.gov (United States)

Seng, Piseth; Abat, Cedric; Rolain, Jean Marc; Colson, Philippe; Lagier, Jean-Christophe; Gouriet, Frédérique; Fournier, Pierre Edouard; Drancourt, Michel; La Scola, Bernard; Raoult, Didier

2013-07-01

During the past 5 years, matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry (MS) has become a powerful tool for routine identification in many clinical laboratories. We analyzed our 11-year experience in routine identification of clinical isolates (40 months using MALDI-TOF MS and 91 months using conventional phenotypic identification [CPI]). Among the 286,842 clonal isolates, 284,899 isolates of 459 species were identified. The remaining 1,951 isolates were misidentified and required confirmation using a second phenotypic identification for 670 isolates and using a molecular technique for 1,273 isolates of 339 species. MALDI-TOF MS annually identified 112 species, i.e., 36 species/10,000 isolates, compared to 44 species, i.e., 19 species/10,000 isolates, for CPI. Only 50 isolates required second phenotypic identifications during the MALDI-TOF MS period (i.e., 4.5 reidentifications/10,000 isolates) compared with 620 isolates during the CPI period (i.e., 35.2/10,000 isolates). We identified 128 bacterial species rarely reported as human pathogens, including 48 using phenotypic techniques (22 using CPI and 37 using MALDI-TOF MS). Another 75 rare species were identified using molecular methods. MALDI-TOF MS reduced the time required for identification by 55-fold and 169-fold and the cost by 5-fold and 96-fold compared with CPI and gene sequencing, respectively. MALDI-TOF MS was a powerful tool not only for routine bacterial identification but also for identification of rare bacterial species implicated in human infectious diseases. The ability to rapidly identify bacterial species rarely described as pathogens in specific clinical specimens will help us to study the clinical burden resulting from the emergence of these species as human pathogens, and MALDI-TOF MS may be considered an alternative to molecular methods in clinical laboratories.

A Rare Case of Chronic Ectopic Pregnancy Presenting as Large Hematosalpinx

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Madhavi Nacharaju

2014-01-01

Full Text Available Ectopic pregnancy is defined as implantation and subsequent development of an embryo outside the uterine lining. It has wide range of presentation from acute hemoperitoneum to chronic ectopic pregnancy. This is an unusual case of chronic ectopic pregnancy with large hematosalpinx without classical symptoms. A 22-year-old South Indian woman reported to the outpatient clinic with irregular spotting for a duration of 2 months which was not associated with pain. There was no preceding amenorrhea and previous menstrual cycles were regular. Clinically, the patient was hemodynamically stable but severely anemic. The abdomen was soft on palpation, cervical movements were not tender, and human chorionic gonadotropin was absent in the urine. Ultrasound revealed a complex adnexal mass. Magnetic resonance imaging (MRI revealed a large hematosalpinx. Laparoscopic left salpingectomy was conducted and histopathology confirmed ectopic pregnancy. Ectopic pregnancy presents diagnostic dilemmas in the absence of classical symptoms. MRI and laparoscopy are important tools in such a diagnostic dilemma.

A Rare Cause of Acute Kidney Injury in a Female Patient with Breast Cancer Presenting as Renal Colic

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Roxana Jurubita

2016-01-01

Full Text Available Renal infarction is a rare cause of acute kidney injury which could lead to permanent loss of renal function. A prompt diagnosis is necessary in order to achieve a successful revascularization of the occluded artery. Given the rarity of the disease and the paucity of the reported cases in the previous literature a high index of suspicion must be maintained not only in the classical cardiac sources of systemic emboli (atrial fibrillation, dilated cardiomyopathy, or endocarditis, but also in the situations when a hypercoagulable state is presumed. The unspecific presenting symptoms often mask the true etiology of the patient’s complaints. We present here a rare case of renal infarction that occurred in the setting of a hypercoagulable state, in a female patient with a history of breast cancer and documented hepatic metastases.

Huntington's disease presenting as amyotrophic lateral sclerosis.

LENUS (Irish Health Repository)

Phukan, Julie

2010-08-01

We present the clinical, electrophysiological and molecular genetic findings of a 58-year-old male with genetically confirmed Huntington\\'s disease (HD) and concurrent clinically definite ALS by El Escorial criteria. The patient presented with asymmetric upper limb amyotrophy and weakness, and subsequently developed chorea and cognitive change. Genetic testing confirmed the presence of expanded trinucleotide repeats in huntingtin, consistent with a diagnosis of Huntington\\'s disease. This case confirms the rare coexistence of Huntington\\'s disease and motor neuron degeneration.

Celiac Disease Presenting as Profound Diarrhea and Weight Loss ? A Celiac Crisis

OpenAIRE

Bul, Vadim; Sleesman, Brett; Boulay, Brian

2016-01-01

Patient: Male, 46 Final Diagnosis: Celiac crisis Symptoms: Abdominal pain ? chronic diarrhea ? lightheadedness ? weakness ? weight loss Medication: ? Clinical Procedure: ? Specialty: Gastroenterology and Hepatology Objective: Rare disease Background: Celiac disease is a hypersensitivity enteropathy that can have various presentations in adults. Rarely, patients can present with severe lab abnormalities, dehydration and weight loss caused by celiac disease ? a celiac crisis. Case Report: A 46-...

Rare presentation of intralobar pulmonary sequestration associated with repeated episodes of ventricular tachycardia.

Science.gov (United States)

Rao, D Sheshagiri; Barik, Ramachandra

2016-07-26

Arterial supply of an intralobar pulmonary sequestration (IPS) from the coronary circulation is extremely rare. A significant coronary steal does not occur because of dual or triple sources of blood supply to sequestrated lung tissue. We present a 60-year-old woman who presented to us with repeated episodes of monomorphic ventricular tachycardia (VT) in last 3 mo. Radio frequency ablation was ineffective. On evaluation, she had right lower lobe IPS with dual arterial blood supply, i.e., right pulmonary artery and the systemic arterial supply from the right coronary artery (RCA). Stress myocardial perfusion scan revealed significant inducible ischemia in the RCA territory. Coronary angiogram revealed critical stenosis of proximal RCA just after the origin of the systemic artery supplying IPS. The critical stenosis in the RCA was stented. At 12 mo follow-up, she had no further episodes of VT or angina.

Isolated celiac trunk aneurysm dissection: A rare entity

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Esteban-Zubero, Eduardo

2017-04-01

Full Text Available Spontaneous and isolated celiac artery dissection is a rare clinical disease. It is the fourth cause of abdominal aneurysms behind those that occur in the splenic, hepatic, and superior mesenteric arteries. It is important to suspect the diagnosis of this entity whose clinical symptoms are unspecific. We report the case of a 60 year-old male treated in our hospital because of this illness, and present a review of this pathology, specially focused on the diagnosis and the different treatments available.

Asymptomatic Incisional Endometrioma Presenting as Abdominal ...

African Journals Online (AJOL)

Asymptomatic incisional endometrioma of the anterior abdominal wall is rare. Clinical diagnosis may be difficult. We present a 26 year old woman with incisional abdominal wall endometrioma discovered 5 years after caeserian section. It was painless and there was no change in size with menstruation. The patient's body ...

Lupus erythematosus and localized scleroderma coexistent at the same sites: a rare presentation of overlap syndrome of connective-tissue diseases.

Science.gov (United States)

Pascucci, Anabella; Lynch, Peter J; Fazel, Nasim

2016-05-01

Overlap syndromes are known to occur with connective-tissue diseases (CTDs). Rarely, the overlap occurs at the same tissue site. We report the case of a patient with clinical and histopathologic findings consistent with the presence of discoid lupus erythematosus (DLE) and localized scleroderma within the same lesions. Based on our case and other reported cases in the literature, the following features are common in patients with an overlap of lupus erythematosus (LE) and localized scleroderma: predilection for young women, photodistributed lesions, DLE, linear morphology clinically, and positivity along the dermoepidermal junction on direct immunofluorescence. Most patients showed good response to antimalarials, topical steroids, or systemic steroids.

A rare ultrasound presentation of splenic lesion in a patient with disseminated Penicillium marneffei infection

International Nuclear Information System (INIS)

Tan, Rong; Xiao, Ying; Tang, Qi; Zhang, Ying

2013-01-01

Focal hypoechoic lesions in the spleen often represent malignant disease in patients with acquired immune deficiency syndrome (AIDS). However, some infection can produce similar images. The abdominal ultrasound imaging about disseminated Penicillium marneffei (P. marneffei) infection has been rarely described in the medical literature. This case report presents a 47-year-old Chinese man with newly diagnosed AIDS who was infected by P. marneffei. An isolated splenic lesion was detected by ultrasound scan before, and assessed following, diagnostic treatment.

BILATERAL ANTERIOR DISLOCATION OF SHOULDER WITH GREATER TUBEROSITY FRACTURE DUE TO HYPONATREMIA : A RARE PRESENTATION

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Sivananda

2015-01-01

Full Text Available We here report a rare presentation of bilateral anterior dislocation of shoulder with associated fracture of greater tuberosity in a 38 year old male due to minor trauma which he sustained secondary to hyponatremia induced irritability. There was no associ ated rotator cuff tear which is often associated with BADS which makes this presentation unique. Unilateral dislocation of shoulder is a common condition which is frequently encountered in emergency trauma department. Anterior dislocation is more common th an posterior dislocation. However, simultaneous bilateral shoulder dislocations are usually posterior. Bilateral anterior dislocations with fractures of the greater tuberosity are even rarer and are usually associated with trauma or seizures

Generalized subcutaneous edema as a rare manifestation of dermatomyositis: clinical lesson from a rare feature.

LENUS (Irish Health Repository)

Haroon, Muhammad

2011-04-01

Generalized subcutaneous edema is a very rare manifestation of inflammatory myopathies. A 61-year-old woman presented with classic signs and symptoms of dermatomyositis. She was also noted to have generalized edema that was so florid that an alternative diagnosis was considered. Her disease was resistant to corticosteroids, azathioprine, and mycophenolate mofetil. Intravenous administration of immunoglobulins was started because of marked worsening of her disease-muscle weakness, generalized anasarca, and involvement of her bulbar muscles. This led to dramatic resolution of her subcutaneous edema and significant improvement of her skin and muscle disease. As the initial screen for malignancy was negative, a positron emission tomography-computed tomography scan was requested, which interestingly showed a metabolically active cervical tumor. Anasarca is an unusual manifestation of dermatomyositis. In treatment-refractory cases, it seems reasonable to consider positron emission tomography scan in excluding underlying malignant disease.

Idiopathic intracranial hypertension: A typical presentation

International Nuclear Information System (INIS)

Algahtani, Hussein A.; Obeid, Tahir H.; Abuzinadah, Ahmad R.; Baeesa, Saleh S.

2007-01-01

Objective was to describe the clinical features of 5 patients with rare atypical presentation of idiopathic intracranial hypertension (IIH), and propose the possible mechanism of this atypical presentation. We carried out a retrospective study of 5 patients, admitted at King Khalid National Guard Hospital, Jeddah, Kingdom of Saudi Arabia with IIH during the period from January 2001 to December 2005. All were females with their age ranges from 24 to 40 years. The clinical presentations, the laboratory and imaging studies were analyzed. The opening pressures of the lumbar puncture tests were documented. All patients were presented with headache. One had typical pain of trigeminal neuralgia and one with neck pain and radiculopathy. Facial diplegia was present in one patient and two patients had bilateral 6th cranial neuropathy. Papilledema was present in all patients except in one patient. Imaging study was normal in all patients, and they had a very high opening pressure during lumbar puncture, except in one patient. All patients achieved full recovery with medical therapy in 6 to 12 weeks with no relapse during the mean follow up of 2 years. Atypical finding in IIH are rare and require a high index of suspicion for early diagnosis. (author)

Toxoplasmosis presented as a submental mass: a common disease, uncommon presentation.

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Li, Bo; Zou, Jian; Wang, Wei-Ya; Liu, Shi-Xi

2015-01-01

Submental mass secondary to toxoplasmosis is not common in clinical work. A diagnosis of toxoplasmosis is rarely considered by physicians. Here we describe a 50-year-old woman presented with a progressive, painful, submental and left neck swelling for 1 month. After having obtained an insufficient evidence from the fine-needle biopsy, the patient finally received an excisional biopsy which highly indicated the possibility of lymphadenopathy consistent with toxoplasmosis. Diagnosis of toxoplasmosis was finally established by a combination of the pathological criteria, together with the positive serological finding. According to review the clinical presentations, pathological characteristics, diagnostic standard and treatment of this disease, the article aims to remind otolaryngologists who are evaluating a neck mass should be aware of the infectious cause of lymphadenopathy and the possibility of toxoplasmosis.

Ossification of the bilateral Achilles tendon: a rare entity

International Nuclear Information System (INIS)

Arora, Abhishek J; Arora, Richa

2015-01-01

Ossification of the Achilles tendon is a rare clinical entity comprising of one or more segments of variable sized ossified masses in the fibrocartilaginous substance of the tendon. The etiology of ossification of the Achilles tendon is multifactorial with recurrent trauma and surgery comprising major predisposing factors, with others being metabolic, systemic, and infectious diseases. The possibility of a genetic predisposition towards this entity has also been raised, but has not yet been proven. We present a rare case of ossification of the bilateral Achilles tendons without any history of trauma or surgery in a 48-year-old female patient

Clinical Characteristics and Outcome of Patients with Neuroblastoma Presenting Genomic Amplification of Loci Other than MYCN

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Guimier, Anne; Ferrand, Sandrine; Pierron, Gaëlle; Couturier, Jérôme; Janoueix-Lerosey, Isabelle; Combaret, Valérie; Mosseri, Véronique; Thebaud, Estelle; Gambart, Marion; Plantaz, Dominique; Marabelle, Aurélien; Coze, Carole; Rialland, Xavier; Fasola, Sylvie; Lapouble, Eve; Fréneaux, Paul; Peuchmaur, Michel; Michon, Jean; Delattre, Olivier; Schleiermacher, Gudrun

2014-01-01

Background Somatically acquired genomic alterations with MYCN amplification (MNA) are key features of neuroblastoma (NB), the most common extra-cranial malignant tumour of childhood. Little is known about the frequency, clinical characteristics and outcome of NBs harbouring genomic amplification(s) distinct from MYCN. Methods Genomic profiles of 1100 NBs from French centres studied by array-CGH were re-examined specifically to identify regional amplifications. Patients were included if amplifications distinct from the MYCN locus were seen. A subset of NBs treated at Institut Curie and harbouring MNA as determined by array-CGH without other amplification was also studied. Clinical and histology data were retrospectively collected. Results In total, 56 patients were included and categorised into 3 groups. Group 1 (n = 8) presented regional amplification(s) without MNA. Locus 12q13-14 was a recurrent amplified region (4/8 cases). This group was heterogeneous in terms of INSS stages, primary localisations and histology, with atypical clinical features. Group 2 (n = 26) had MNA as well as other regional amplifications. These patients shared clinical features of those of a group of NBs MYCN amplified (Group 3, n = 22). Overall survival for group 1 was better than that of groups 2 and 3 (5 year OS: 87.5%±11% vs 34.9%±7%, log-rank p<0.05). Conclusion NBs harbouring regional amplification(s) without MNA are rare and seem to show atypical features in clinical presentation and genomic profile. Further high resolution genetic explorations are justified in this heterogeneous group, especially when considering these alterations as predictive markers for targeted therapy. PMID:25013904

Clinical characteristics and outcome of patients with neuroblastoma presenting genomic amplification of loci other than MYCN.

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Anne Guimier

Full Text Available Somatically acquired genomic alterations with MYCN amplification (MNA are key features of neuroblastoma (NB, the most common extra-cranial malignant tumour of childhood. Little is known about the frequency, clinical characteristics and outcome of NBs harbouring genomic amplification(s distinct from MYCN.Genomic profiles of 1100 NBs from French centres studied by array-CGH were re-examined specifically to identify regional amplifications. Patients were included if amplifications distinct from the MYCN locus were seen. A subset of NBs treated at Institut Curie and harbouring MNA as determined by array-CGH without other amplification was also studied. Clinical and histology data were retrospectively collected.In total, 56 patients were included and categorised into 3 groups. Group 1 (n = 8 presented regional amplification(s without MNA. Locus 12q13-14 was a recurrent amplified region (4/8 cases. This group was heterogeneous in terms of INSS stages, primary localisations and histology, with atypical clinical features. Group 2 (n = 26 had MNA as well as other regional amplifications. These patients shared clinical features of those of a group of NBs MYCN amplified (Group 3, n = 22. Overall survival for group 1 was better than that of groups 2 and 3 (5 year OS: 87.5%±11% vs 34.9%±7%, log-rank p<0.05.NBs harbouring regional amplification(s without MNA are rare and seem to show atypical features in clinical presentation and genomic profile. Further high resolution genetic explorations are justified in this heterogeneous group, especially when considering these alterations as predictive markers for targeted therapy.

Spastic paretic hemifacial contracture as a presenting feature of multiple sclerosis.

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Koutsis, Georgios; Breza, Marianthi; Evangelopoulos, Maria-Eleftheria; Anagnostouli, Maria; Andreadou, Elisavet; Karagiorgis, Georgios; Kokotis, Panagiotis; Kilidireas, Costas; Karandreas, Nikolaos

2017-04-01

Spastic paretic hemifacial contracture (SPHC) is characterized by sustained unilateral contraction of the facial muscles associated with mild ipsilateral facial paresis. Rarely described in the context of multiple sclerosis (MS), it has never been reported as presenting symptom of MS. Two patients developed SPHC within the context of a clinically isolated syndrome suggestive of MS. EMG revealed continuous resting activity of irregularly firing motor unit potentials, associated with impaired recruitment upon voluntary contraction. SPHC remitted fully in both patients. SPHC, a rare but distinct clinical and EMG entity, can occasionally be the presenting feature of MS. Copyright © 2017 Elsevier B.V. All rights reserved.

Parry-Romberg syndrome (progressive hemifacial atrophy) with spasmodic dysphonia--a rare association.

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Mugundhan, K; Selvakumar, C J; Gunasekaran, K; Thiruvarutchelvan, K; Sivakumar, S; Anguraj, M; Arun, S

2014-04-01

Parry-Romberg syndrome is a rare clinical entity characterised by progressive hemifacial atrophy with appearance of 'saber'. Various neurological and otorhinolaryngological disorders are associated with this syndrome. The association of Parry -Romberg syndrome with Spasmodic dysphonia has rarely been reported. A 37 year old female presented with progressive atrophy of tissues of left side of face for 10 years and change in voice for 1 year. On examination, wasting and atrophy of tissues including tongue was noted on left side of the face. ENT examination revealed adductor spasmodic dysphonia. We report the rare association of Parry -Romberg syndrome with spasmodic dysphonia.

Solitary Osteochondroma of the Thoracic Spine with Compressive Myelopathy; A Rare Presentation

International Nuclear Information System (INIS)

Mehrian, Payam; Karimi, Mohammad Ali; Kahkuee, Shahram; Bakhshayeshkaram, Mehrdad; Ghasemikhah, Reza

2013-01-01

A 19-year-old man presented with a 5-year history of back pain radiating to the lower extremities and paresthesis of the toes during the last year. Plain X-ray revealed a large cauliflower shaped exophytic mass at the level of T8, T9 and T10 vertebrae. Computed tomography (CT) and magnetic resonance imaging (MRI) showed an abnormal bony mass arising from the posterior arch of T9 with protrusion to the spinal canal and marked cord compression. The cortex and medulla of the lesion had continuity with those of the T9 vertebra. Surgical en bloc resection was performed and the patient’s symptoms resolved. The histopathologic diagnosis was osteochondroma. In patients with symptoms of myelopathy, in addition to more common etiologies, one should also be aware of rare entities such as osteochondroma

An atypical presentation of erythema elevatum diutinum

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Mariana Quirino Tubone

2013-04-01

Full Text Available Erythema elevatum diutinum is a rare chronic leukocytoclastic vasculitis of unknown etiology. Lesions are usually asymptomatic, although burning and itchiness can occur. The typical clinical presentation is characterized by persistent, symmetrical, papules and nodules that may coalesce to form larger nodules or plaques. It may be associated with various pathologies and the diagnosis is based on clinical and histopathological findings. Treatment is based on the use of dapsone and sulfonamides, first-line therapies, and other options such as niacinamide, tetracycline, colchicine, chloroquine and corticosteroids. We describe the case of a 65-year-old male patient that presented a single lesion on the dorsum of the hand, an unusual clinical presentation.

EEC syndrome sans clefting: Variable clinical presentations in a family

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Thakkar Sejal

2007-01-01

Full Text Available Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly, epiphora, hair changes and deafness with variable involvement in each family member.

Pancreatic Calculus Causing Biliary Obstruction: Endoscopic Therapy for a Rare Initial Presentation of Chronic Pancreatitis.

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Shetty, Anurag J; Pai, C Ganesh; Shetty, Shiran; Balaraju, Girisha

2015-09-01

Biliary obstruction in chronic calcific pancreatitis (CCP) is often caused by inflammatory or fibrotic strictures of the bile duct, carcinoma of head of pancreas or less commonly by compression from pseudocysts. Pancreatic calculi causing ampullary obstruction and leading to obstructive jaundice is extremely rare. The medical records of all patients with CCP or biliary obstruction who underwent endoscopic retrograde cholangiopancreatography (ERCP) over 4 years between 2010-2014 at Kasturba Medical College, Manipal were analyzed. Five patients of CCP with impacted pancreatic calculi at the ampulla demonstrated during ERCP were identified. All 5 presented with biliary obstruction and were incidentally detected to have CCP when evaluated for the same; 3 patients had features of cholangitis. All the patients were managed successfully by endoscopic papillotomy and extraction of pancreatic calculi from the ampulla with resolution of biliary obstruction. Pancreatic calculus causing ampullary obstruction, though very rare, should be considered as a possibility in patients with CCP complicated by biliary obstruction. Endoscopic therapy is affective in the resolution of biliary obstruction in such patients.

Hepatic arterial pseudoaneurysm: a rare complication of blunt abdominal trauma in children

International Nuclear Information System (INIS)

Basile, K.E.; Sivit, C.J.; Sachs, P.B.; Stallion, A.

1999-01-01

We report a child who developed a hepatic artery pseudoaneurysm following blunt hepatic injury. This is a rare complication of hepatic trauma in children. The imaging evaluation and clinical management of hepatic artery pseudoaneurysms are presented. (orig.)

Hypercalcemia in children: three cases report with unusual clinical presentations

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Bruna Barros Garbim

Full Text Available Abstract Hypercalcemia is a rare condition in childhood; the most common causes are primary hyperparathyroidism, malignancy, prolonged immobilisation, thyrotoxicosis, thiazide diuretic, supplements containing calcium, milk-alkali syndrome, vitamin D intoxication, infections and idiopathic. We present three cases of severe hypercalcemia of unusual causes in children. The first patient had high fever, poor general condition, weight loss and myalgia. Extensive preliminary investigation did not define the etiology, but a review of medical history revealed prolonged contact with pet bird and a positive serology for Chlamydia confirmed the diagnosis of psittacosis. The second patient had generalized lymphadenopathy and hepatosplenomegaly with fever a month ago. Paracoccidioides brasiliensis was identified in myelogram; the patient showed partial improvement with the use of co-trimoxazole, with subsequent emergence of multiple osteolytic lesions. A smear of gastric lavage was positive for Mycobacterium tuberculosis and the patient was treated with rifampicin, isoniazid, ethambutol and pyrazinamide, with improvement of clinical condition. The third patient was treated by hypercalciuria and idiopathic hypomagnesiuria with daily use of cholecalciferol; the patient had a two quilograms of weight loss in the past two months. No cause of hypercalcemia could be detected in laboratory workout. The capsules of cholecalciferol were analyzed and presented an amount of 832,000 IU of vitamin D per capsule. Acute hypercalcemia in childhood may be due to exogenous vitamin D intoxication, as well as infectious causes. The possible causal relationship between psittacosis and occurrence of hypercalcemia alert to the need for detailed investigation of the epidemiological antecedents.

Florid Cementoosseous Dysplasia: A Rare Case Report

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Mehmet Fatih Şentürk

2013-01-01

Full Text Available Florid cementoosseous dysplasia (FCOD is a rare, benign, fibroosseous, and multifocal dysplastic lesion of the jaw that consists of cellular fibrous connective tissue with bone and cementum-like tissue. FCOD is most commonly found in middle-aged black women, is generally asymptomatic, and is usually detected during radiological examination. FCOD associated with multiple impacted teeth and bone expansion is a very rare phenomenon, and there are only a few familial cases reported in the literature. In this report, a 35-year-old male Turkish patient is presented who was diagnosed with nonfamilial FCOD from clinical, radiological, and histopathological findings. To our knowledge this is the first case of the nonfamilial FCOD with this many impacted teeth and severely expanded bones.

Cor triatriatum dexter, a very rare congenital anomaly presented in a complex pathological context – case presentation

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Gozar Liliana

2014-08-01

Full Text Available Background Cor triatriatum dexter is an extremely rare congenital anomaly, and in most cases, without hemodynamic significance. Congenital cytomegalovirus infection is the most common viral infection, the majority of infected infants being asymptomatic and only 5-15% being symptomatic in the neonatal period.

Seborrheic dermatitis eye lid involment (seborrheic blepharitis in children not a rare clinical observation

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Anca Chiriac

2012-01-01

Full Text Available We present a typical case of seborrheic dermatitis, with no cutaneous manifestations, rarely reported in children, frequently misdiagnosed (especially by ophthalmologists, simply confirmed by microscopic examination of scales and with wonderful therapeutic results with antifungal agents (topical and/or systemic treatments.

[Infectious Mononucleosis and Cholestatic Hepatitis: A Rare Association].

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Salgado, Catarina; Garcia, Ana Margarida; Rúbio, Catarina; Cunha, Florbela

2017-12-29

Infectious mononucleosis is one of the major clinical manifestations of Epstein-Barr virus infection. In this syndrome, elevation of liver transaminase levels is common but cholestasis is rare, with few cases described in the literature. We present the case of a 14-year-old female adolescent, admitted to the Emergency Room with fever, odynophagia and cervical adenomegaly. She was treated with amoxicillin and two days later he presented with jaundice. The analytical evaluation was compatible with cholestatic hepatitis and abdominal ultrasound revealed hepatosplenomegaly without dilatation of the bile ducts. The diagnosis of Epstein-Barr virus infection was confirmed by the presence of serological markers. This case aims to raise awareness of a rare manifestation of a common infectious agent and, consequently, to the inclusion of acute Epstein-Barr virus infection in the differential diagnosis of pediatric cholestatic hepatitis.

Urachal remnant carcinoma - a rare entity

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Vanesha Naidu

2013-06-01

Full Text Available Primary malignancy of the urachal remnant is a rare neoplasm that accounts for less than 0.01% of all adult cancers, with an estimated annual incidence of 1:5 million. The tumour carries a grave prognosis that attests to its highly aggressive nature. Owing to its extra-peritoneal location, the tumour runs a relatively silent clinical course until late presentation, when most patients display extensive local invasion and metastatic spread. In this report, we highlight a case of primary malignancy of the urachus that on initial clinical evaluation masqueraded as a Sister Mary Joseph’s nodule. Characteristic imaging features, however, proved decisive in establishing the diagnosis of a urachal carcinoma.

Rare clinical experiences for surgical treatment of melanoma with osseous metastases in Taiwan

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Yang Rong-Sen

2007-07-01

Full Text Available Abstract Background Malignant melanoma occurs infrequently in Taiwan. Once it has progressed into osseous metastases, the prognosis is poor. There are no reported clinical experiences of surgical management in this area. Methods To improve our understanding of the rare clinical experiences, we retrospectively investigated clinical characteristics, radiological findings, treatment modalities, survival outcomes and prognoses of 11 Taiwanese patients with osseous metastasis of melanoma treated surgically at two national medical centers, National Taiwan University Hospital and National Cheng Kung University Hospital from January 1983 to December 2006. Results Six patients suffered from acral-lentiginous melanoma. Nine patients sustained multiple osseous metastases and most lesions were osteolytic. Nine patients also had sustained metastases to other organs including liver, lungs, lymph nodes, brain and spleen. Second malignancies including lung cancer, thyroid papillary carcinoma, renal cell carcinoma and cervical cancer co-existed in four patients. The interval from the initial diagnosis of melanoma to the clinical detection of osseous metastases varied from 0–37.8 months (mean 9.75 months. Metastatic melanoma was invariably fatal; the mean survival time from bone metastases to death was 5.67 months. Conclusion Due to the high morbidity and poor survival of Taiwanese patients with osseous metastases of melanoma, surgical treatment should be directed towards pain relief and the prevention of skeletal debilitation in order to maintain their quality of life.

Central pontine myelinolysis: clinical presentation and radiologic findings

International Nuclear Information System (INIS)

Laubenberger, J.; Schneider, B.; Ansorge, O.; Goetz, F.; Haeussinger, D.; Volk, B.; Langer, M.

1996-01-01

Central pontine myelinolysis (CPM) is a neurologic disorder once thought to be uniformly fatal. With the introduction of CT and MRI there was an increasing number of reports on nonfatal cases of CPM. Nearly all reports on nonfata cases describe severe clinical syndromes with tetraparesis, bulbar palsy, and coma. We reviewed nine patients with CPM and compared the size of the pontine lesion on MRI and CT with the severity of clinical presentation. Clinical presentation of CPM was highly variable: The symptoms ranged from severe neurologic disorders to mild neurologic disturbances only. Two of nine patients died from CPM. The size of the pontine lesion did not correlate with the severity of the neurologic illness or the final outcome. Mild forms of CPM might be difficult to diagnose clinically. This applies even more for patients with underlying diseases such as Wernicke's encephalopathy, which in itself might cause a clinical picture similar to that of CPM. Central Pontine Myelinolysis is a major differential diagnosis in acute neurologic deterioration indicating pontine damage. Magnetic resonance imaging is the decisive diagnostic tool for CPM. (orig.)

Isolated Juvenile Xanthogranuloma in Thoracic Spine: Intraoperative Cytological Diagnosis of a Rare Presentation

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Shashi Singhvi

2014-06-01

Full Text Available Juvenile Xanthogranulomas (JXG are benign proliferative disorders of non-Langerhans histiocytes, which present in children as multiple, self-limited, cutaneous lesions. The extracutaneous manifestations of JXG are uncommon, and isolated JXG involving the spinal column is extremely rare. We report here a case of isolated juvenile xanthogranuloma in thoracic spine correctly diagnosed intraoperatively on crush smear cytology and later confirmed by histopathological and immunohistochemical studies. This case report draws attention to the fact that isolated xanthogranuloma should be considered among possible diagnoses of spinal tumor in children. Also, since the long term survival depends on complete surgical resection, a correct intraoperative diagnosis is extremely important for optimal management and prognosis of the patient. [J Interdiscipl Histopathol 2014; 2(3.000: 158-162

Clinical and radiological spectrum of cleidocranial dysplasia: A rare case report

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Sneha H Choudhary

2017-01-01

Full Text Available Cleidocranial dysplasia (CCD is a rare congenital disorder which affects the bones and teeth. CCD usually has an autosomal dominant inheritance pattern, however, it may appear spontaneously in some cases. The most common features seen in CCD are aplastic or hypoplastic clavicles, late closure of fontanelle, open skull sutures, delayed exfoliation of deciduous teeth, delayed or failed eruption of permanent teeth, and supernumerary teeth. Here, we report a case of CCD in a 17-year-old female without any family history who presented with the complaint of missing teeth.

Dynamic bowel obstruction: aetiology, clinical presentation ...

African Journals Online (AJOL)

2005). This makes it essential that studies are made periodically in every region to define the local causes with the idea to do work on their prevention (Adhikari et al., 2010). This study was conducted to describe in our region, the aetiology, clinical presentation, management and outcome of dynamic bowel obstruction.

Adult-onset cystic hygroma: A case report of rare entity.

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Bahl, Sumit; Shah, Vandana; Anchlia, Sonal; Vyas, Siddharth

2016-01-01

Cystic hygroma is a benign congenital malformation of the lymphatic system that occurs in infant or children younger than 2 years of age. Although cystic hygroma is well recognized in pediatric practice, it seldom presents de novo in adulthood. These are commonly present in head and neck but can be present anywhere. Cystic hygroma is very rare in adults, but it should be considered in the differential diagnosis of adult neck swellings. Patients presenting with a painless, soft, fluctuant, and enlarging neck mass should have a careful history and physical examination along with radiological imaging to assist with diagnosis. Surgical intervention is the treatment of choice for this rare condition. Here, we are reporting a case of cystic hygroma in a 32-year-old male patient in the neck region. The objectives of this case report are to discuss the clinical presentation, diagnosis, histopathological findings and management of this malformation.

Rare diseases and orphan drugs

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Domenica Taruscio

2011-01-01

Full Text Available According to the Regulation (EC N. 141/2000 of the European Parliament and of the Council, rare diseases are life-threatening or chronically debilitating conditions, affecting no more than 5 in 10 000 persons in the European Community. It is estimated that between 6000 to 8000 distinct rare diseases affect up to 6% of the total EU population. Therefore, these conditions can be considered rare if taken individually but they affect a significant proportion of the European population when considered as a single group. Several initiatives have been undertaken at international, European and national level to tackle public health as well as research issues related to the prevention, diagnosis, treatment and surveillance of these diseases. The development of innovative and effective medical products for their diagnosis and treatment is frequently hampered by several factors, including the limited knowledge of their natural history, the difficulties in setting up clinical studies due to the limited numbers of patients affected by a specific disease, the weak interest of sponsors due to the restricted market opportunities. Therefore, incentives and other facilitations have been adopted in many parts of the world, including in the EU, in order to facilitate the development and commercialization of diagnostic tools and treatments devoted to rare diseases. This paper illustrates mainly the European initiatives and will discuss the problematic and controversial aspects surrounding orphan drugs. Finally, activities and measures adopted in Italy are presented.

Clinical Usefulness of Aripiprazole and Lamotrigine in Schizoaffective Presentation of Tuberous Sclerosis.

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Lee, Seung-Yup; Min, Jung-Ah; Lee, In Goo; Kim, Jung Jin

2016-08-31

Tuberous sclerosis is not as rare as once thought and has high psychiatric comorbidities. However, bipolar or psychotic features associated with tuberous sclerosis have been rarely reported. This report first presents a tuberous sclerosis patient, resembling a schizoaffective disorder of bipolar type. A patient with known tuberous sclerosis displayed mood fluctuation and psychotic features. Her symptoms did not remit along with several psychiatric medications. After hospitalization, the patient responded well with lamotrigine and aripiprazole without exacerbation. As demonstrated in this case, tuberous sclerosis may also encompass bipolar affective or psychotic features. We would like to point out the necessity to consider bipolarity in evaluating and treating tuberous sclerosis.

Pachydermoperiostosis: a rare mimicker of acromegaly.

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Abdullah, Noor Rafhati Adyani; Jason, Wong Lok Chin; Nasruddin, Azraai Bahari

2017-01-01

Pachydermoperiostosis is a very rare osteoarthrodermopathic disorder whose clinical and radiographic presentations may mimic those of acromegaly. In the evaluation of patients with acromegaloid appearances, pachydermoperiostosis should be considered as a differential diagnosis. In this article, we report a 17-year-old boy who presented with 2-year history of acral enlargement and facial appearance changes associated with joint pain and excessive sweating. He had been investigated extensively for acromegaly, and the final diagnosis was pachydermoperiostosis. There is a broad range of differential diagnosis for acromegaloid features such as acromegaly, pseudoacromegaly with severe insulin resistance, Marfan's syndrome, McCune-Albright and a rare condition called pachydermoperiostosis.Once a patient is suspected to have acromegaly, the first step is biochemical testing to confirm the clinical diagnosis, followed by radiologic testing to determine the cause of the excess growth hormone (GH) secretion. The cause is a somatotroph adenoma of the pituitary in over 95 percent of cases.The first step is measurement of a serum insulin-like growth factor 1 (IGF1). A normal serum IGF1 concentration is strong evidence that the patient does not have acromegaly.If the serum IGF1 concentration is high (or equivocal), serum GH should be measured after oral glucose administration. Inadequate suppression of GH after a glucose load confirms the diagnosis of acromegaly.Once the presence of excess GH secretion is confirmed, the next step is pituitary magnetic resonance imaging (MRI).Atypical presentation warrants revision of the diagnosis. This patient presented with clubbing with no gigantism, which is expected in adolescent acromegalics as the growth spurt and epiphyseal plate closure have not taken place yet.

Collaborative research efforts and related activities of the Office of Rare Diseases Research at the USA National Institutes of Health

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Stephen C. Groft

2009-12-01

Full Text Available

Introduction: Rare diseases present unique challenges to meet the numerous and varied needs of the rare diseases community and it is required to identify and address these needs. Significant financial and personnel resources are required to address these needs identified. The Office of Rare Diseases Research (ORDR at the USA National Institutes of Health (NIH has attempted to meet many of these needs in collaborative efforts with the research Institutes and Centers of NIH and other partners in the private and public sectors in the USA and around the world. Several of the activities of the NIH and the ORDR are presented as possible collaborative efforts available to research investigators and include the Rare Diseases Clinical Research Network, the Bench-to-Bedside research program at NIH, the Genetic and Rare Diseases Information center, the genetic test development program, and the information on clinical research studies made available through Clinical trials.gov. The value of an appropriate family medical history is discussed as are the provisions of the Genetic Information Non-Discrimination Act of 2008 (GINA. Definitions of rare or orphan diseases vary from country to country and may cause some confusion to the rare diseases community.

Conclusions: Rare diseases are not limited by geographical or historical boundaries and global partnerships of the rare diseases community are experiencing rapid expansion to assist in the development of orphan products for the prevention, diagnosis and treatment of rare diseases and conditions. The unmet needs of the rare diseases community require additional innovative research and educational programs to reach the extensive global populations affected by the thousands of different rare diseases including activities with the National Organization for Rare Disorders and the Genetic Alliance.

Clinical Presentation of Epilepsy among Adult Sudanese Epileptic ...

African Journals Online (AJOL)

Objective: To study the pattern of clinical presentation of epilepsy among adult Sudanese epileptic patients. Methods: 120 patients with epilepsy were included in a prospective cross-sectional study. Setting: The study was conducted at Sheik Mohamed Kheir Friday Epileptic Clinic .Duration: May 2003 Oct 2006. Results: ...

A rare presentation of an ectopic breast tissue in axilla

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Radhika Vidyasagar

2015-10-01

Full Text Available Accessory breast tissue is rare accounting to less than 1% cases seen in females. It is usually bilateral. We report a case of 24-year-old woman with a lump in the left axilla in view of its rarity and made a differential diagnosis of fibroadenoma, which following the investigations and histopathological report was confirmed as revealed fibroadenoma in the axilla. It should also be considered as a differential diagnosis for all axillary swellings.

Arterial tortuosity syndrome: An extremely rare disease presenting as a mimic of pulmonary sling

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Amy Farkas, MD

2018-02-01

Full Text Available Pulmonary sling is the anatomic variant defined by the aberrant origin of the left pulmonary artery from the right pulmonary artery. This patient presented with a mimic of pulmonary sling as a result of an extremely rare condition, arterial tortuosity syndrome (ATS. The patient was first diagnosed with pulmonary sling on prenatal echocardiogram performed by cardiology. Computed tomography angiography of the chest obtained at birth to evaluate respiratory depression demonstrated ATS. The early detection of ATS has been demonstrated to improve patient outcome. This case provides an overview of the typical imaging features of ATS to aid radiologists in making this uncommon diagnosis.

A rare ovarian tumor, leydig stromal cell tumor, presenting with virilization: a case report

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Soheila Aminimoghaddam

2012-11-01

Full Text Available  Abstract Leydig stromal cell tumor is a rare ovarian tumor that belongs to the group of sex-cord stromal tumors. They produce testosterone leading to hyperandrogenism. We present a 41yr old woman with symptoms of virilization and a mass of right adenex via ultra Sonography, and a rise of total and free serum testosterone. An ovarian source of androgen was suspected and a surgery performed. A diagnosis of leydig-stromal cell tumor was confirmed. Our report is a reminder that although idiopathic hirsutism and other benign androgen excess disorder like Polycystic Ovarian Syndrome (PCOs are common, ovarian mass should be considered in differential diagnosis. 

Clinical skill center: a review of present situation and importance in medical education curriculum

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Haleh Talaei

2002-07-01

Full Text Available Clinical skill centers were designed in 1960, offers innovative, more effective clinical health care and treatment curriculum. Clinical skill center (CSC can provide a special facility for clinical and communication skills practice in a setting outside hospital wards in order to train students with enough confidence of confronting real patients. Learning clinical skills in these centers are not patient-dependent and by practicing on manikins and simulated models errors in real patients can be prevented. Moreover, possible feedback of this method can be used for evaluation and can improve quality and quantity of the education. This review intends to determine the purpose, undertaking, and structure of CSC. The study emphasizes the importance of integrating the clinical skill centers into the teaching curriculum of medical universities. Apparently, organizing clinical skill centers can play an important role for improving the quality and quantity of the educational system and consequently post-graduate performance. The authors recommend this program can be a solution for having both the knowledge and skill of diagnosis and treatment seasonal and rare diseases. Key words clinical skill center, medical education, curriculum

A Supernumerary Nipple-Like Clinical Presentation of Lymphangioma Circumscriptum.

Science.gov (United States)

Taylor, Dustin; Kash, Natalie; Silapunt, Sirunya

2018-01-01

Lymphangioma circumscriptum is a superficially localized variant of lymphangioma. The characteristic clinical presentation is a "frogspawn" grouping of vesicles or papulovesicles on the proximal limb or limb girdle areas. Though most lymphangiomas develop congenitally, the lymphangioma circumscriptum subtype is known to present in adults. We report a case of lymphangioma circumscriptum on the left inframammary area of an African American female with an unusual supernumerary nipple-like clinical presentation. Our patient presented with a firm, smooth, hypopigmented papule, and the clinical diagnosis of keloid was made initially. However, she returned reporting growth of the lesion and was noted to have a firm, exophytic, lobulated, pink to skin-colored nodule. Histopathological examination demonstrated dilated lymphatic vessels, consistent with the diagnosis of lymphangioma. The presentation as a firm, hypopigmented papule and later exophytic, lobulated, skin-colored nodule in our case represents a clinical presentation of lymphangioma circumscriptum not previously described in the literature. Correct diagnosis in lymphangioma circumscriptum is vital, as recurrence following surgical resection and secondary development of lymphangiosarcoma and squamous cell carcinoma following treatment with radiation have been reported. Thus, it is important to consider lymphangioma circumscriptum in the differential of similar lesions in the future to allow appropriate diagnosis, treatment, and monitoring.

The Rare Cancer Network: ongoing studies and future strategy

Directory of Open Access Journals (Sweden)

Mahmut Ozsahin

2014-08-01

Full Text Available The Rare Cancer Network (RCN was formed in the early 1990’s to create a global network that could pool knowledge and resources in the studies of rare malignancies whose infrequency prevented both their study with prospective clinical trials. To date, the RCN has initiated 74 studies resulting in 46 peer reviewed publications. The First International Symposium of the Rare Cancer Network took place in Nice in March of 2014. Status updates and proposals for new studies were heard for fifteen topics. Ongoing studies continue for cardiac sarcomas, thyroid cancers, glomus tumors, and adult medulloblastomas. New proposals were presented at the symposium for primary hepatic lymphoma, solitary fibrous tumors, Rosai-Dorfman disease, tumors of the ampulla of Vater, salivary gland tumors, anorectal melanoma, midline nuclear protein in testes carcinoma, pulmonary lymphoepithelioma-like carcinoma, adenoid cystic carcinoma of the trachea, osteosarcomas of the mandible, and extra-cranial hemangiopericytoma. This manuscript presents the abstracts of those proposals and updates on ongoing studies, as well a brief summary of the vision and future of the RCN.

A Rare Case of Splenic Torsion with Sigmoid Volvulus in a 14-Year-Old Girl.

Science.gov (United States)

Ahmadi, Hamid; Tehrani, Mahdieh Mohammad Khan

2016-01-01

Wandering spleen is an uncommon entity in adults and has been described only rarely with sigmoid volvulus, that rarely affects children and adolescents. It is usually described in adults.Wandering spleen characterized by the abnormal location of the spleen, caused by incomplete fusion of the four primary splenic ligaments, allowing the spleen to be mobile within the abdomen.The wandering spleen can lead to torsion and subsequent splenic infarction or rupture. Clinical suspicion plus urgent investigation and intervention are important. We present a rare clinical case of acute abdomen due to torsion of wandering spleen and volvulus of sigmoid in a 14-year-old girl presented with painful periumbilical mass. Detorsion of sigmoid occurred while undergoing exploratory laparotomy and splenectomy was performed. The possibility of torsion and its complication like gastric, pancreas tail and colon volvulus should be kept in mind in the differential diagnosis of the acute abdomen to avoid serious complications.

A Rare Case of Splenic Torsion with Sigmoid Volvulus in a 14-Year-Old Girl

Directory of Open Access Journals (Sweden)

Hamid Ahmadi

2016-01-01

Full Text Available Wandering spleen is an uncommon entity in adults and has been described only rarely with sigmoid volvulus, that rarely affects children and adolescents. It is usually described in adults.Wandering spleen characterized by the abnormal location of the spleen, caused by incomplete fusion of the four primary splenic ligaments, allowing the spleen to be mobile within the abdomen.The wandering spleen can lead to torsion and subsequent splenic infarction or rupture. Clinical suspicion plus urgent investigation and intervention are important. We present a rare clinical case of acute abdomen due to torsion of wandering spleen and volvulus of sigmoid in a 14-year-old girl presented with painful periumbilical mass. Detorsion of sigmoid occurred while undergoing exploratory laparotomy and splenectomy was performed. The possibility of torsion and its complication like gastric, pancreas tail and colon volvulus should be kept in mind in the differential diagnosis of the acute abdomen to avoid serious complications.

Fourth ventricular ependymoma with a distant intraventricular metastasis: Report of a rare case

Directory of Open Access Journals (Sweden)

Sudheer Ambekar

2013-01-01

Full Text Available Ependymoma is one of the uncommon tumors of the central nervous system (CNS in the adult age group. These tumors have a distinct propensity for metastasis, both within and outside the CNS. However, dissemination at the time of first presentation and retrograde dissemination of the tumor is rare. We report the case of a patient with fourth ventricular anaplastic ependymoma who presented with left lateral ventricular metastasis which was anatomically different from the primary tumor. We describe the clinic-pathological detail of the patient and discuss the probable pathophysiological basis for this rare presentation and its significance in management of the patient.

Hepatic arterial pseudoaneurysm: a rare complication of blunt abdominal trauma in children

Energy Technology Data Exchange (ETDEWEB)

Basile, K.E.; Sivit, C.J.; Sachs, P.B. [Department of Radiology, Rainbow Babies and Children`s Hospital of the University Hospitals of Cleveland, OH (United States); Stallion, A. [Department of Surgery, Rainbow Babies` and Children`s Hospital of the University Hospitals of Cleveland, OH (United States)

1999-05-01

We report a child who developed a hepatic artery pseudoaneurysm following blunt hepatic injury. This is a rare complication of hepatic trauma in children. The imaging evaluation and clinical management of hepatic artery pseudoaneurysms are presented. (orig.) With 3 figs., 8 refs.

Clinical trials in nuclear medicine: Present and future

International Nuclear Information System (INIS)

Chaumet-Riffaud, P.; Cachin, F.; Couturier, O.; Desruet, M.D.; Kraeber-Bodere, F.; Talbot, J.N.; Vuillez, J.P.

2009-01-01

The particular status of radiopharmaceuticals, together with the positioning of nuclear medicine in multidisciplinary approach of oncology, lead to real difficulties for conception, validation and granting of clinical trials which are necessary for demonstrating clinical interest of new compounds, for diagnosis as well as for therapeutic use. This article is a presentation of some recent clinical trials conducted in nuclear medicine in France, showing its dynamism but also pointing out some encountered difficulties. These experiences could lead to reflexion in order to improve the clinical research performances, taking into account a scientific and regulatory context more and more constraining. (authors)

The bubbling neck: A rare complication from colonoscopy.

Science.gov (United States)

Andrejevic, P; Gatt, D

2012-04-01

A 70 year old lady presented to the emergency department complaining of "bubbling neck'' and abdominal discomfort. She underwent diagnostic colonoscopy six hours before admission. Clinical examination showed a haemodynamically stable patient and imaging revealed free air in all body compartments. We report a rare case of micro perforation during diagnostic colonoscopy with massive distribution of air in all body compartments, which was successfully treated conservatively. © JSCR.

Dengue encephalitis–A rare manifestation of dengue fever

OpenAIRE

Madi, Deepak; Achappa, Basavaprabhu; Ramapuram, John T; Chowta, Nityananda; Laxman, Mridula; Mahalingam, Soundarya

2014-01-01

The clinical spectrum of dengue fever ranges from asymptomatic infection to dengue shock syndrome. Dengue is classically considered a non-neurotropic virus. Neurological complications are not commonly seen in dengue. The neurological manifestations seen in dengue are encephalitis, meningitis, encephalopathy, stroke and Guillain-Barré syndrome. Dengue encephalitis is a rare disease. We report an interesting case of dengue encephalitis from Southern India. A 49-year-old gentleman presented with...

A rare cause of calf swelling: the Morel-Lavallee lesion.

LENUS (Irish Health Repository)

Moriarty, J M

2011-03-01

Calf swelling is a common clinical presentation with a wide and varied differential diagnosis. The Morel-Lavallee is a rare cause of subcutaneous swelling, caused by post-traumatic shearing of the hypodermis from the underlying fascia. The potential space so created fills with blood, lymph and necrotic fat giving specific findings on MR evaluation.

Intracystic papillary carcinoma in a male as a rare presentation of breast cancer: a case report and literature review.

LENUS (Irish Health Repository)

Romics, Laszlo

2009-01-01

The term "intracystic papillary ductal carcinoma in situ" has recently changed and is now more appropriately referred to "intracystic papillary carcinoma". Intracystic papillary carcinoma in men is an extremely rare disease with only a few case presentations published in the literature so far.

Cellular schwannoma arising from sigmoid mesocolon presenting ...

African Journals Online (AJOL)

Schwannomas are a type of peripheral nerve sheath tumors with clinically indolent behavior. Though, they can occur anywhere in body, the incidence in retroperitoneum, mediastinum, and pelvis is exceedingly rare. We present a case of a 58‑year‑old female with a massive twisted tumor arising from sigmoid mesocolon.

Cellular Schwannoma Arising from Sigmoid Mesocolon Presenting ...

African Journals Online (AJOL)

Schwannomas are a type of peripheral nerve sheath tumors with clinically indolent behavior. Though, they can occur anywhere in body, the incidence in retroperitoneum, mediastinum, and pelvis is exceedingly rare. We present a case of a 58‑year‑old female with a massive twisted tumor arising from sigmoid mesocolon.

Corneal ulcer due to a rare coelomycetes fungus Chaetomium strumarium: Case report and global review of Chaetomium keratomycosis

Directory of Open Access Journals (Sweden)

Mamatha Reddy

2017-01-01

Full Text Available We present a rare case of corneal ulcer caused by a species of a coelomycetes fungus, Chaetomium strumarium. This fungal genus is a rare causative agent of keratomycosis, with only a handful of cases reported. The clinical presentation, investigative techniques, and preliminary management of our patient are reported. The cases reported in global literature are also summarized in a tabular form in the discussion.

Corneal ulcer due to a rare coelomycetes fungus Chaetomium strumarium: Case report and global review of Chaetomium keratomycosis.

Science.gov (United States)

Reddy, Mamatha; Venugopal, Ramya; Prakash, Peralam Yegneswaran; Kamath, Yogish Subraya

2017-09-01

We present a rare case of corneal ulcer caused by a species of a coelomycetes fungus, Chaetomium strumarium. This fungal genus is a rare causative agent of keratomycosis, with only a handful of cases reported. The clinical presentation, investigative techniques, and preliminary management of our patient are reported. The cases reported in global literature are also summarized in a tabular form in the discussion.

Onychomycosis: A Rare Presentation of Fungal Urinary Tract Infection in an Extremely Preterm Neonate

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Shilpa Kalane

2015-06-01

Full Text Available Onychomycosis refers to nail infections, caused by fungi including yeasts and non-dermatophyte moulds. One or several toenails or fingernails (seldom all may be involved in this condition. Many cases of fingernail onychomycosis are due to yeasts. Fungal infection has emerged as an important cause of neonatal infection, associated with significant morbidity and mortality, especially in very low birth weight (< 1500 g and extremely low birth weight (< 1000 g infants. Herein, we report a case of a 24-day-old male infant, who presented with onychomycosis on the left ring fingernail, associated with fungal urinary tract infection (UTI. The evaluation of nails helped us detect fungal UTI. To date, there have been no reports suggesting onychomycosis as a presentation of fungal UTI. We could not find the association between onychomycosis and neonatal fungal UTI. Hence, retrospectively, it can be said that onychomycosis was a presentation of fungal UTI. Further studies are required to evaluate the etiology and treatment of neonatal onychomycosis. Moreover, dermatologists should pay particular attention to this rare event.

Clinical presentation of nasopharyngeal carcinoma in Sarawak Malaysia.

Science.gov (United States)

Tiong, T S; Selva, K S

2005-12-01

Nasopharyngeal carcinoma (NPC) is a common cancer in Malaysia. The clinical presentation in Sarawak has not been well documented. A retrospective review of 213 selected NPC cases was undertaken on the clinical records in Sarawak General Hospital, Sarawak, from June 1999 to June 2003. There were 116 patients in Kuching and 97 in Serian. There were twice as many males as females. The youngest patient was 16 and the oldest 88 years old with a mean age of 51 years. The four most common symptoms in order of frequencies were cervical lymphadenopathy, epistaxis, hearing loss and diplopia. 80.8% of the patients presented with cervical lymphadenopathy and about 85% of the patients presented in the advanced stages. Very small percentages of the patients were found to have single presenting symptoms of epistaxis (2.4%) and hearing loss (0.5%).

Kartagener's syndrome presented with nasal obstruction: A case report

Directory of Open Access Journals (Sweden)

Suna Asilsoy

2014-08-01

Full Text Available The nasal polyposis is a chronic inflammatory process of the nasal mucosa. Although it is rare in children, there may be also association with cystic fibrosis and primary ciliary dyskinesia. About 50% of primary ciliary dyskinesia patients develop situs inversus and it is known as Kartagener's syndrome. The Kartagener's sydrome is a rare autosomal recessive disorder characterized by sinusitis, bronchiectasis, situs inversus. Clinically, patients present to the otolaryngologist with nasal obstruction. We as pediatricians, should consider nasal polyposis as a rare cause of nasal obstruction in children. In the presence of recurrent upper and lower respiratory tract infections accompanying nasal polyposis, Kartagener's syndrome must be kept in mind as a rare reason. [Cukurova Med J 2014; 39(4.000: 942-945

The varied clinical presentations of major depressive disorder.

Science.gov (United States)

Rush, A John

2007-01-01

DSM-IV major depressive disorder (MDD) is a clinical syndrome notable for heterogeneity of its clinical presentation, genetics, neurobiology, clinical course, and treatment responsiveness. In an attempt to make sense of this heterogeneity, clinicians and researchers have proposed a number of MDD "subtypes" based on differences in characteristic symptoms (e.g., atypical, melancholic, psychotic), onset (e.g., early vs. late, post-partum, seasonal), course of illness (e.g., single vs. recurrent, chronic, double), and severity. This article provides a brief review of the status of several of the most common subtypes in terms of their clinical features, biological correlates, course of illness, and treatment implications.

Oral candidiasis: pathogenesis, clinical presentation, diagnosis and treatment strategies.

Science.gov (United States)

Lalla, Rajesh V; Patton, Lauren L; Dongari-Bagtzoglou, Anna

2013-04-01

Oral candidiasis is a clinical fungal infection that is the most common opportunistic infection affecting the human oral cavity. This article reviews the pathogenesis, clinical presentations, diagnosis and treatmentstrategies for oral candidiasis.

A clinical trial of a rare earth screen/film system in a periapical cassette

International Nuclear Information System (INIS)

Kogon, S.L.; Stephens, R.G.; Reid, J.A.; Lubus, N.J.

1984-01-01

In a clinical trial, a slow rare earth screen/film system (Siemens Titan 2D/Kodak XG) was used to obtain intraoral radiographs at conventional monitoring stages in endodontic treatment. The screen film image proved to be an effective substitute for the direct-exposure Ultraspeed periapical film. The intraoral cassettes, designed and fabricated for the study, were an adaptation of the flexible, vacuum-sealed cassettes used in mammography. It is believed that when a practicable periapical cassette is manufactured, many additional indications for the system are probable. Major reductions in patient exposure of at least 85% to 90% per periapical film would be effected

Brown′s syndrome with ocular albinism: Case report of a rare presentation and literature review

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Soumya Nambiar

2015-01-01

Full Text Available We report a rare case of Brown′s syndrome associated with ocular albinism in a 10-year-old boy. This report highlights the importance of further analysis of cases of Brown′s syndrome and throws some light on the etiology and association of this rare condition.

Proposed ICDRG Classification of the Clinical Presentation of Contact Allergy

DEFF Research Database (Denmark)

Pongpairoj, Korbkarn; Ale, Iris; Andersen, Klaus Ejner

2016-01-01

The International Contact Dermatitis Research Group proposes a classification for the clinical presentation of contact allergy. The classification is based primarily on the mode of clinical presentation. The categories are direct exposure/contact dermatitis, mimicking or exacerbation of preexisting....../mucosal symptoms, oral contact dermatitis, erythroderma/exfoliative dermatitis, minor forms of presentation, and extracutaneous manifestations....