Güzel, Aygül; Köksal, Nurhan; Aydın, Davut; Aslan, Kerim; Gören, Fikret; Karagöz, Filiz
Gingivitis due to sarcoidosis is a relatively rare condition. Gingivitis or isolated gingival involvement may be the first sign of systemic sarcoidosis. We report the case of a 37 year-old woman with isolated gingivitis due to sarcoidosis confirmed by biopsy. Following treatment with a systemic corticosteroid (prednisolone 40 mg/day), all clinical and radiologic findings were completely improved. In cases of chronic and intractable gingivitis, systemic sarcoidosis should be suspected. It should be confirmed with a biopsy, and the patient should be referred to a chest disease clinic to exclude other organ involvement.
Shoib, Sheikh; Dar, Mohamand Maqbool; Arif, Tasleem; Bashir, Haamid; Bhat, Mohammad Hayat; Ahmed, Javid
Sheehan's syndrome (SS) refers to the occurrence of varying degree of hypopituitarism after parturition (1). It is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care and its frequency is decreasing worldwide. However, it is still frequent in underdeveloped and developing countries. Sheehan's syndrome is often diagnosed late as it evolves slowly (2,3). Reports of psychoses in patients with Sheehan's syndrome are rare. Herein, a case report of psychosis in a 31 year old woman who developed Sheehan's syndrome preceded by postpartum haemorrhage is presented. Treatment with thyroxine and glucocorticoids resulted in complete remission after attaining euthyroid and eucortisolemic state.
Full Text Available Pityriasis versicolor is a superficial fungal infection of the skin caused by the yeast of the genus Malassezia and presents as hypo or hyper pigmented scaly macules. The most commonly affected sites include upper trunk, upper arms, neck and the abdomen. Lesions confined to the acral parts like hands and feet have rarely been reported. In this article the author reports a 40 year old male who presented with multiple hypo pigmented scaly macules confined to the acral parts (hands and wrist. The acral variant of pityriasis versicolor is considered to be a very rare clinical entity which prompted the author to report this case.
Chiummariello, S; Figus, A; Menichini, G; Bellezza, G; Alfano, C
Scrotal calcinosis (SC) is a rare benign disease that affects patients in childhood or early adulthood. It is characterized by slow-growing yellowish-white nodules consisting of deposits of calcium and phosphates, within the scrotal skin. The nodules vary in number, and can be solitary or grouped. Owing to the age of onset and anatomical location, SC may be a source of embarrassment and lead to social isolation. Because of its rarity, the aetiology of SC is still controversial. We report a very rare case of an SC in a 59-year-old white man who presented with multiple nodules with different clinical patterns in the scrotum, which had been present for > 42 years. Despite the rarity and the multiple long-lasting lesions, surgical excision of the scrotal nodules can offer a very good aesthetic outcome in a single procedure even under local anaesthesia.
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.
Spyropoulou, Georgia-Alexandra; Pavlidis, Leonidas; Mylothridis, Panagiotis; Zaraboukas, Thomas; Demiri, Efterpi
Dupuytren disease in children younger than 10 years is rare and only 8 histologically proven cases have been reported. A histologically proven Dupuytren disease in a 10-year-old with an uncommon clinical presentation as a nodule on the radial side of the middle phalanx of the little finger is documented. Dupuytren's disease should be in the differential diagnosis in cases of nodules and contractures in the palm and fingers of children. Copyright Â© 2016 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.
Full Text Available Paraganglioma is a rare extra-adrenal pheochromocytoma which originates from chromaffin cells within the ganglia of the sympathetic trunk and of the celiac, renal, suprarenal, and hypogastric plexuses. Pancreatic paragangliomas are rarer still. And even then, paragangliomas are mostly reported to be nonfunctional. We report a case of a 64-year-old woman with underlying disease of hypertension who presented with biliary colic. Contrast-enhanced computer tomography showed an enhancing mass in the uncinate process of the pancreas. Pylorus-sparing Whipple procedure was performed for complete tumor excision. Hypertensive crisis developed after Whipple, which improved after continuous intravenous nicardipine infusion. Pathology revealed a paraganglioma. A 24-h catecholamine urine test showed increased norepinephrine and vanillylmandelic acid level. Functional paraganglioma was diagnosed.
Veasey, John Verrinder; Lellis, Rute Facchini; Boin, Maria Fernanda Feitosa de Camargo; Porto, Pedro Loureiro; Chen, Jessica Chia Sin
Syphilis is a sexually transmitted disease caused by Treponema pallidum and divided into three stages according to the duration of the disease: primary, secondary and tertiary. Secondary syphilis has diverse clinical presentations, such as papular-nodular lesions. This presentation is rare, with 15 cases reported in the literature over the past 20 years. We report a case of secondary syphilis with papular-nodular lesions in a healthy 63-year-old patient, who has presented treponema in immunohistochemical examination of the skin lesions. PMID:27192520
Full Text Available Nocardiosis is an opportunistic infection caused by the Gram-positive weakly acid-fast, filamentous aerobic Actinomycetes. The lungs are the primary site of infection mainly affecting immunocompromised patients. In rare circumstances even immunocompetent hosts may also develop infection. Diagnosis of pulmonary nocardiosis is usually delayed due to nonspecific clinical and radiological presentations which mimic fungal, tuberculous, or neoplastic processes. The present report describes a rare bronchoscopic presentation of an endobronchial nocardial mass in a 55-year-old immunocompetent woman without underlying lung disease. The patient exhibited signs and symptoms of unresolving community-acquired pneumonia with a computed tomography (CT scan that showed a space-occupying lesion and enlarged paratracheal lymph node. This patient represents the unusual presentation of pulmonary Nocardia beijingensis as an endobronchial mass. Pathology obtained during bronchoscopy demonstrated polymerase chain reaction (PCR confirmation of nocardiosis. Symptoms and clinical findings improved with antibiotic treatment. This patient emphasizes the challenge in making the diagnosis of pulmonary nocardiosis, especially in a low risk host. A literature review presents the difficulties and pitfalls in the clinical assessment of such an individual.
Rohan S Valsangkar
Full Text Available Granulomatous inflammation of the prostate is a rare type of inflammation of the prostate. It is of various types, with the non-specific type of granulomatous inflammation being the most common. Xanthogranulomatous prostatitis is a rare type of granulomatous prostatitis of which very few cases have been reported. Histologically it is characterized by the presence of pale-looking foamy macrophages. It can be an incidental finding after transurethral resection of the prostate (TURP, although it may mimic prostatic malignancy clinically, biochemically, and rarely histologically. We report a rare case of xanthogranulomatous prostatitis which presented as a prostatic abscess, a presentation never reported in literature so far. The patient was managed with TURP.
Full Text Available Childhood disintegrative disorder (CDD is a rare autistic-like clinical condition with unknown etiology, in that previously acquired age-appropriate language, social and adaptive abilities deteriorate significantly in 2-10-year-old healthy children, although physical and neurological evaluations display no observable abnormality. Our case is a 22-year-old female born of a consanguineous marriage, with the appearance of CDD symptoms in her fifth year of age following normal mental and physical development during her initial four years of life. Without any precipitating factor, she gradually lost her language abilities, social relational skills, affectionate behavior, adaptive capacities, peer play and meaningful interest in her surrounding, friends and family members over a period of 4 years, reaching a plateau in her ninth year of age. The unique special clinical symptom in this case is a seasonal total mutism, which after the beginning of her CDD symptoms is revealing every year covering the spring. As no additional physical or psychological change accompanies her total seasonal speech loss, it cannot be attributed to any mental condition known as having a seasonal pattern. Because in the literature CDD is presented mostly as case reports with lacking of advanced research data, describing any new case is recommended to improve the knowledge about this rare condition, especially if it displays some new unusual signs, not reported till now.
Ayse Filiz Avsar
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.
Siddiahgari, Sirisha Rani; Yerukula, Pallavi; Lingappa, Lokesh; Moodahadu, Latha S
Extra nodal presentation of Non Hodgkins Lymphoma (NHL) is a rare entity, and data available about the NHL that primarily involves of middle ear and mastoid is limited. We report a case of diffuse large B cell lymphoma (DLBCL), in a 2 year 8 month old boy, who developed otalgia and facial palsy. Computed tomography revealed a mass in the left mastoid. Mastoid exploration and histopathological examination revealed DLBCL. This case highlights the importance of considering malignant lymphoma as one of the differential diagnosis in persistent otitis media and/facial palsy.
Nag, Hira-L; Kancherla, Ramprasad; Malpura, Aftab
Thorn prick injuries are generally conceded frivolous and rarely demand medical attention. Howbeit deep seated injuries are well described in the literature. We presented a case of thorn prick injury to the knee that manifested as Brodie's abscess of the medial distal femoral condyle and synovitis. Magnetic resonance imaging (MRI) and ultrasonography could only construe the affliction but not spot the thorn. Arthrotomy was undertaken for exploration and debridement. Empirical therapy with initial systemic Cefotaxime and subsequent Ofloxacin worked well after the surgery. Deep seated injuries by a thorn prick may take a protracted and torpid course. Thorough curettage of the bony lesion and debridement are vital for proper manage- ment.
Siderits, Richard; Poblete, Frederick; Saraiya, Biren; Rimmer, Cheryl; Hazra, Anup; Aye, Le
We present a case of angiosarcoma in small bowel, presenting with partial small bowel obstruction in a 79-year-old man with no history of radiation, chemotherapy, toxin exposure, or previous operative intervention. Angiosarcoma of small bowel is a rare entity which may present with nausea, abdominal pain, recurrent bleeding, and usually a history of prior radiation or exposure to specific toxins (polyvinyl chloride). Angiosarcoma of small bowel tends to spread rapidly and has a poor prognosis. We review the surgical and oncologic challenges. We report unique macroscopic findings of raised hyperemic margins, which are suggestive of a vasogenic lesion and the histologic feature of a partially retiform pattern with dense basement membrane material in an otherwise poorly differentiated lesion.
Full Text Available We present a case of angiosarcoma in small bowel, presenting with partial small bowel obstruction in a 79-year-old man with no history of radiation, chemotherapy, toxin exposure, or previous operative intervention. Angiosarcoma of small bowel is a rare entity which may present with nausea, abdominal pain, recurrent bleeding, and usually a history of prior radiation or exposure to specific toxins (polyvinyl chloride. Angiosarcoma of small bowel tends to spread rapidly and has a poor prognosis. We review the surgical and oncologic challenges. We report unique macroscopic findings of raised hyperemic margins, which are suggestive of a vasogenic lesion and the histologic feature of a partially retiform pattern with dense basement membrane material in an otherwise poorly differentiated lesion.
Hira L Nag; Ramprasad Kancherla; Aftab Malpura
Thorn prick injuries are generally conceded frivolous and rarely demand medical attention.Howbeit deep seated injuries are well described in the literature.We presented a case of thorn prick injury to the knee that manifested as Brodie's abscess of the medial distal femoral condyle and synovitis.Magnetic resonance imaging (MRI)and ultrasonography could only construe the affliction but not spot the thorn.Arthrotomy was undertaken for exploration and debridement.Empirical therapy with initial systemic Cefotaxime and subsequent Ofloxacin worked well after the surgery.Deep seated injuries by a thorn prick may take a protracted and torpid course.Thorough curettage of the bony lesion and debridement are vital for proper management.
Hira L Nag
Full Text Available 【Abstract】Thorn prick injuries are generally con-ceded frivolous and rarely demand medical attention. How-beit deep seated injuries are well described in the literature. We presented a case of thorn prick injury to the knee that manifested as Brodie's abscess of the medial distal femoral condyle and synovitis. Magnetic resonance imaging (MRI and ultrasonography could only construe the affliction but not spot the thorn. Arthrotomy was undertaken for explora-tion and debridement. Empirical therapy with initial systemic Cefotaxime and subsequent Ofloxacin worked well after the surgery. Deep seated injuries by a thorn prick may take a protracted and torpid course. Thorough curettage of the bony lesion and debridement are vital for proper manage-ment. Key words: Thorn; Wounds and injuries; Knee; Osteomyelitis; Synovitis
Horvath, Emoke; Demian, Smaranda; Nagy, Elod
Myeloid sarcoma results from the extramedullary homing and proliferation of immature myeloid precursors. We present the timeline, events and diagnostic pitfalls related to a 66 year-old male patient's case, admitted to the Hematology Clinic for pancytopenia, fever, weight loss and fatigue. The severe cytopenia and the few blasts observed in his blood smear indicated a bone marrow biopsy. The bone marrow showed hypercellularity and multilineage dysplasia with the presence of 15% myeloblasts. After the biopsy, he promptly developed paraplegia and nuclear magnetic resonance revealed an epidural tumour which was then resected.In the epidural tumour mass blast-like, round cells were observed with a complex immunophenotype, characterized by myeloperoxidase, CD117, CD15, CD99, leucocyte common antigen positivity and a high Ki-67 proliferation index. Considering the main differential diagnostic issues, the final diagnosis was stated as myelodysplastic syndrome-associated myeloid sarcoma. The prognosis was unfavourable, the bone marrow was quickly invaded by proliferating blast cells, and despite chemotherapy attempts, the patient died.
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.
Palaparti Jayakar Babu
Full Text Available Genetically determined syndromes of ciliary dyskinesia prevent normal transport of mucus from the bronchial tree to the mouth and result in serious impairment of lung defence system.male infertility was sometimes associated with Immotile spermatozoa. Approximately half of patients with Primary Ciliary Dyskinesia have full triad of kartgenerss syndrome, give history of recurrent sinusitis and lower respiratory tract infection from early life to adulthood. Kartageners syndrome has been considered to be a sub group in a heterogenous collection of disorders to which Immotile Ciliary Syndrome or Dyskinitic cilia syndrome have been applied. There may also be a link with retinitis pigmentosa and hearing loss. Kartageners syndrome with paranasal polyposis is a uncommon presentation shown in our case. We report an adult female of 23 of age having Recurrent sinusitis,Bronchiectasis and Dextrocardia with Situs inversus and with Paranasal polyposis showing recurrent epistaxis. Conclusion: Kartageners syndrome with paranasal sinusitis is common but paranasal polyposis with epistaxis is uncommon way of presentation. [National J of Med Res 2012; 2(1.000: 99-101
Sushil G. Kachewar
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.
Rather, Ajaz; Salati, Sajad Ahmad
Ascariasis is the most common helminthic infection in the world. We present a very rare manifestation of ascariasis in which the worms came out through the T-tube tract of a 36 years old patient who had undergone cholecystectomy with choledocholithotomy.
Full Text Available In this case report, we have brought out a very rare presentation of hypothyroidism in the form of cataplexy and this case is of significance because there have been no similar case reports of hypothyroidism presenting as cataplexy so far. The other highlight of the case is that treatment of hypothyroidism alone resulted in complete freedom from cataplexy without the need for agrypnotic drugs. [Int J Res Med Sci 2014; 2(1.000: 328-329
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.
Waad-Allah S. Mula-Abed
Full Text Available A 50-year-old Omani woman presented to the Outpatient Clinic, Royal Hospital, Oman with right upper abdominal pain and backache that had lasted 10 days. She had no palpitation, sweating, or hypertension (blood pressure 122/78mmHg. The patient’s history revealed that she had a similar incidence of abdominal pain two months prior, which was a "dull ache" in nature and somewhat associated with headache. The pain was relieved using a mild analgesic drug. Abdominal ultrasonography showed a right adrenal mass, and both computed tomography and magnetic resonance imaging of the adrenal glands confirmed a right adrenal mass consistent with adrenal pheochromocytoma. However, clinical biochemistry tests revealed normal levels of plasma catecholamines (dopamine, norepinephrine, and epinephrine and metanephrine, which are unusual findings in adrenal pheochromocytoma. Meanwhile, the patient had markedly raised plasma normetanephrine (10-fold which, together with the normal metanephrine, constitutes a metabolic profile that is compatible with extra-adrenal pheochromocytoma. The patient also had markedly raised chromogranin A (16-fold, consistent with the presence of a neuroendocrine tumor. Laparoscopic right adrenalectomy was done and the adrenal tumor was excised and retrieved in total. Histopathology and immunohistochemistry confirmed the diagnosis of adrenal pheochromocytoma; the tumor cells being positive for chromogranin, synaptophysin, and S-100 protein. Following surgery, the patient did well and showed full recovery at follow-up after three months. Molecular genetic testing showed no pathogenic mutation in pheochromocytoma genes: MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, VHL, and PRKAR1A. A review of the literature was conducted to identify the pathophysiology and any previous reports of such case. To our knowledge, this is the first report in Oman of the extremely rare entity of pheochromocytoma with an unusual clinical and biochemical scenario.
Full Text Available The odontoameloblastoma (OA, also known as ameloblastic odontoma, is a very rare odontogenic tumor that is similar to ameloblastoma in its locally aggressive behavior. OA includes odontogenic ectomesenchyme in addition to odontogenic epithelium that resembles an ameloblastoma both in structure and in behavior. Its clinical presentation, however, often mimics the more innocuous odontoma, and hence, the recognition of its aggressive nature is commonly only ascertained after its histopathologic diagnosis following enucleation. This paper presents a rare case of OA with unusual clinical and radiological features.
Ghulam Rehman Mohyuddin
Full Text Available A 70-year-old female presented with a 4-week history of dry cough and wheezing. Chest radiograph showed a 10.5 cm mass-like density in the anterior mediastinum which had not been previously visualized. Computed tomography scan (CT of the chest showed a right hilar mass encasing and narrowing right upper lobe bronchus and right mainstem bronchus and secondary atelectatic changes. Biopsy was consistent with a diagnosis of lymphomatoid granulomatosis Grade 3. She responded well clinically and radiologically to therapy. Lymphomatoid granulomatosis is a rare EBV-associated disorder which is considered a lymphoproliferative disease. The most common radiographic feature is multiple lung nodules. An isolated hilar mass is an exceptionally rare presentation of this rare disease.
Full Text Available Ameloblastic fibroma is a relatively rare benign odontogenic tumor in which both the epithelial and ectomesenchymal components are neoplastic. A 14-year-old girl presented with a complaint of unerupted maxillary right premolar. The panoramic radiograph revealed a well-circumscribed unilocular radiolucency involving an unerupted maxillary right first premolar. The lesion was enucleated and the material was sent for histopathologic examination. This case emphasized the importance of careful differential diagnosis of intraosseous oral lesions and reported a rare lesion as well as its atypical location.
Singh Sunita; Chhabra Sonia; Aggarwal Garima; Kalra Rajnish; Duhan Amrita; Sen Rajeev
Cysticercosis is a condition that occurs when man is infected with larvae ofTaenia solium. Oral cysticercosis is a rare event, and it represents difficulty in clinical diagnosis. A case of oral cysticercosis in 11 year old girl is presented which complained of painless swelling for 6 months. A FNAC was performed which revealed bluish pink fibrillary material and interspersed nuclei and fragments of wall of larvae. Patient was treated with antihelminthic.
Subramani, Vijayanirmala; Narasimhan, Malathi; Ramalingam, Suganya; Anandan, Soumya; Ranganathan, Subhashini
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.
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.
Nadeesha J Nawarathna
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.
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.
Full Text Available Ameloblastoma is the most frequent odontogenic tumor arising from dental epithelium. It is characterized by its histological resemblance to the enamel organ of the developing tooth germ; but enamel formation is not observed. Acanthomatous ameloblastoma is considered an aggressive odontogenic tumor characterized by irregular verrucous masses adjacent to the tooth, consisting of sheets of keratinizing odontogenic epithelium. Here we are reporting a case of 35-year-old male with swelling on left body of the mandible region which was diagnosed as acanthomatous ameloblastoma based on clinical, radiographic and histopathological features.
Sathyakrishna, Basavapatna Ramakrishnaiah; Boggaram, Suryanarayan Giridhar; Jannu, Nagamalleswara Rao
Right iliac fossa (RIF) pain is the most common presenting complaint in the general surgical ward. Though there are several causes for the RIF pain, acute appendicitis is the first and common diagnosis. Here we present one of the rare differential diagnoses of RIF pain in a young female patient with one month history of intermittent right lower abdominal pain. Patient's symptoms and clinical findings indicated acute appendicitis, though ultrasonography didn't show any significant abnormality. Through diagnostic laparoscopy we found that there was torsion of anterior abdominal wall parietal peritoneal pedunculated lipoma located in RIF region. The clinical presentation, examination, investigation, laparoscopic findings and further management is presented in this case report.
Full Text Available Myeloid sarcoma results from the extramedullary homing and proliferation of immature myeloid precursors. We present the timeline, events and diagnostic pitfalls related to a 66 year-old male patient’s case, admitted to the Hematology Clinic for pancytopenia, fever, weight loss and fatigue. The severe cytopenia and the few blasts observed in his blood smear indicated a bone marrow biopsy. The bone marrow showed hypercellularity and multilineage dysplasia with the presence of 15% myeloblasts. After the biopsy, he promptly developed paraplegia and nuclear magnetic resonance revealed an epidural tumour which was then resected.In the epidural tumour mass blast-like, round cells were observed with a complex immunophenotype, characterized by myeloperoxidase, CD117, CD15, CD99, leucocyte common antigen positivity and a high Ki-67 proliferation index. Considering the main differential diagnostic issues, the final diagnosis was stated as myelodysplastic syndrome-associated myeloid sarcoma. The prognosis was unfavourable, the bone marrow was quickly invaded by proliferating blast cells, and despite chemotherapy attempts, the patient died.
Shergill Harbhajan K, Grover Suparna, Chhabra Ajay
Full Text Available It is a rare occurrence for the rudimentary horn of uterus to harbour a pregnancy and the usual outcome is devastating leading to a spontaneous rupture in second trimester with the patient presenting in shock with massive intra-peritoneal haemorrhage and if appropriate management is not instituted in time it may lead to high rate of mortality. We report an unusual case of rupture rudimentary horn pregnancy who presented as a chronic ectopic with an adnexal mass and surprisingly with no sign of shock. Diagnosis is often difficult in such a situation which puts the treating gynaecologist in dilemma. High clinical suspicion supplemented with radiological findings helped clinch the diagnosis and laparotomy was performed followed by resection of the rudimentary horn to prevent future complications.
Kordzadeh, Ali; Lorenzi, Bruno; Kalyan, Jiten P.; Hanif, Muhammad A.; Charalabopoulos, Alexandros
Paraumbilical hernia sac usually contains omentum, bowel loop and rarely appendicular epiploicae, metastatic deposits and vermiform appendix. Presentation of acute appendicitis in a paraumbilical hernia is rare and limited to few case reports in the literature. Herein, we would like to report a case of a successfully treated acute appendicitis presenting in a paraumbilical hernia in an 84-year-old lady with 6-month follow-up. PMID:28096326
Full Text Available Xanthogranulomatous cystitis (XC is a rare benign disease of unknown etiology. A case of XC in a 30-year-old male is presented due to sparcity of such case report in medical literature. Patient evaluation included clinical, biochemical and radiological studies before treatment. Histological study revealed the rare diagnosis. Patient was asymptomatic at eight weeks follow-up after treatment.
Maheshwari, Anshul; Tiwari, Siddhi; Mathur, Deepak K; Bhargava, Puneet
Lupus vulgaris is the most common presentation of cutaneous tuberculosis in India and can present as papular, nodular, plaque, ulcerative, vegetating, and tumid forms. Unusual variants include the frambesiform, gangrenous, ulcerovegetating, lichen simplex chronicus, myxomatous, and sporotrichoid types. We describe a rare sporotrichoid presentation of lupus vulgaris on the leg of a 28-year-old female of 12 years duration.
Full Text Available Pneumothorax due to mycetoma is extremely rare and has been described only in patients undergoing intensive cytotoxic therapy for hematologic malignancies. A non-immunocompromised subject presenting with pneumothorax due to rupture of the mycetoma into the pleural cavity is being described here.
Full Text Available Congenital anomalies of the urogenital tract are the most common anomalies found in the foetus, neonates and infants, but anterior urethral valves and diverticula are rare. Here, we present a case with congenital anterior urethral diverticulum associated with patent ductus arteriosus and polydactyly.
Cytomegalovirus is the most common viral infection after kidney transplantation. Clinical presentations of cytomegalovirus infection range from asymptomatic infection to organ-specific involvement. Most symptomatic infections manifest as fever and cytopenia. The gastrointestinal tract is the most common site of tissue-invasive infection, often presenting as diarrhea or gastrointestinal bleeding. Gastrointestinal obstruction, perforation, thrombosis of large gastrointestinal veins, splenic artery thrombosis, and pancreatitis are rare gastrointestinal presentations of cytomegalovirus infection. Renal-allograft ureteral stricture and skin involvement are other rare presentations of cytomegalovirus infection. hemophagocytic syndrome, thrombotic microangiopathy, adrenal insufficiency, and renal allograft artery stenosis are other rare symptoms of cytomegalovirus infection.
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.
Sharma, Gaurav; Nagra, Amritpreet; Singh, Gurkeerat; Nagpal, Archna; Soin, Atul; Bhardwaj, Vishal
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. PMID:26989523
Sharma, Gaurav; Nagra, Amritpreet; Singh, Gurkeerat; Nagpal, Archna; Soin, Atul; Bhardwaj, Vishal
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.
Lazaraki, Georgia; Nakos, Andreas; Katodritou, Eirini; Pilpilidis, Ioannis; Tarpagos, Anestis; Katsos, Ioannis
Pseudoachalasia is a rare clinical entity with clinical, radiographic, and manometric features often indistinguishable from achalasia. Primary adenocarcinomas arising at the gastroesophageal junction or a tumor of the distal esophagus are the most frequent causes of pseudoachalasia. Rarely, processes other than esophagogastric cancers including chronic idiopathic intestinal pseudo-obstruction, amyloidosis, sarcoidosis, Chagas' disease, vagotomy, antireflux surgery, pancreatic pseudocysts, von Recklinghausen's neuroinomatosis, gastrointestinal stromal tumor, and other malignancies and rare genetic syndromes, may lead to the development of pseudoachalasia. Secondary achalasia is extremely rare, with less than 100 cases reported in the literature so far. Gastrointestinal manifestations in primary or secondary amyloidosis include abdominal pain, diarrhea, constipation, malabsorption, obstruction, motility disturbance, intestinal infarction, perforation, and hemorrhage; however, gastrointestinal tract involvement is asymptomatic in most instances. We present here a rare case of multiple myeloma initially presenting with dysphagia because of esophageal amyloidosis and manometric findings typical of achalasia.
Foppiani, Luca; Del Monte, Patrizia; Ruelle, Antonio; Marugo, Alessandro; Bernasconi, Donatella
We report two cases of acromegaly in elderly patients. Both patients had markedly invasive GH-secreting macroadenomas, which caused hugely increased circulating GH levels (over 90 ng/ml). The first patient, 79 year-old, presented with goitre and severe osteoarthrosis, refused surgery and was treated with various somatostatin analogues (ultimately accompanied by cabergoline), without satisfactory control of the disease. The second patient, 67-year-old, presented with symptoms secondary to hypopituitarism, which had been previously misdiagnosed. These symptoms resolved with the appropriate substitutive therapy, which led to a significant improvement in her condition. However, two transphenoidal operations, radiotherapy and long-term somatostatin agonist therapy were required to control GH hypersecretion satisfactorily. The authors wish to underline that acromegaly is a rare but not negligible disorder in the elderly, which can affect the whole body functions and cause severe morbidities. In the two cases presented somatostatin agonists alone were not able to control the tumoral hypersecretion adequately. The prompt discovery (usually through a simple clinical evaluation) of this disease in the elderly, confirmed by hormonal and morphological evaluation, together with a multidisciplinary (medical, surgical, radiotherapeutic) approach can improve their quality of life and increase life expectancy.
Sriram Bhat M
Full Text Available Free peritoneal perforation is a rare complication of Crohn's disease with a report of only 100 cases in the literature. It needs an emergency exploration and an unaware general surgeon is confounded in intraoperative decision-making. We present our experience when this rarity struck us in a district hospital and briefly review the guidelines of optimal management of this complication of Crohn's disease.
Full Text Available Upper gastrointestinal bleeding can be a life threatening complication. Hookworms infestation usually causes chronic blood loss resulting in anemia. A 52 year old male presented to us with massive gastrointestinal blood loss and hemodynamic instability. On examination he had anemia, which on evaluation was iron deficient microcytic hypochromic anemia with eosinophilia. On evaluation of small bowel mucosa showed multiple hookworms moving on the surface. He improved with anthelmintics, blood transfusion and supportive management. The repeat evaluation showed eradication of worms. Hookworms presenting as a massive gastrointestinal bleeding is a rare entity. Enteroscopy plays an important role in diagnosing hookworm infestation.
Full Text Available Blastomycosis is a chronic granulomatous and suppurative mycosis, caused by Blastomyces dermatitidis, which in the great majority of cases presents as a primary pulmonary disease. Primary cutaneous blastomycosis is very rare. We present a 57-year-old female patient with a solitary, slowly progressive nodule over upper lip of 2½ months duration. Initially, differential diagnosis of cutaneous leishmaniasis, pyoderma and deep mycoses were entertained. Slit smear preparation was suspicious of deep mycotic infection which was subsequently confirmed by biopsy and culture.
Kavanagh, Crystal; Kaoutzanis, Christodoulos; Spoor, Kristen; Friedman, Paul F
Jejunal diverticulosis is a rare entity with a reported clinical incidence of 0.5%. However, symptoms relating to its presence are non-specific, which does not only delay diagnosis, but also increases the risk of serious complications approaching 15%. We report a case of perforated jejunal diverticulum presented with a 6-month history of significant weight loss and acute abdominal pain. We discuss clinical presentation in both simple and complex cases, diagnostic pitfalls and management strategies.
Ball, William Robert; Elshaieb, Mohamed; Hershman, Michael Jeremy
An elderly woman presented with abdominal pain and vomiting, was known to have gallstones. A CT scan was arranged identifying gallstone ileus and cholecystitis. Ensuing sepsis precipitated fast atrial fibrillation delaying the planned laparotomy. Her symptoms subsequently resolved with conservative management. Ten days following admission her abdomen became distended. A repeat CT scan showed large bowel dilation with intramural air suggestive of obstruction and bowel ischaemia. Emergency laparotomy was performed identifying a large 23 mm gallstone impacted at the rectosigmoid junction (gallstone coleus). The stone was milked back to the transverse colon where it was retrieved and a transverse loop colostomy was formed. Gallstone ileus is rare; gallstone coleus is even rarer. On review of the published literature both entities have not been seen in the same patient during the same admission or indeed caused by the same gallstone.
Full Text Available Presenting a 47-year-old peri-menopausal lady with hypomenorrhoea, temporal baldness, alopecia, hirsutism. The histopathology was polycystic ovaries with stromal hyperthecosis. Hughesdon described hyperthecosis as a severe form of PCOS. Hyperthecosis is rare in young women, with clinical features similar to PCOS. However, these women are usually more virilised.
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.
Mohit K Joshi
Full Text Available Skeletal metastasis as a primary presentation of gall bladder carcinoma is rare. A 50-year-old lady presented with neck pain and weakness in her right upper limb of 3 months duration. Clinical and imaging work-up suggested locally advanced gall bladder carcinoma with metastasis to cervical vertebra and sternum. Only one case till date has been reported where the patient presented with neurological symptoms due to pathological fracture secondary to metastasis from an occult gall bladder carcinoma. Although rare, an occult gall bladder cancer may present with neurological symptoms due to pathological fracture of spine secondary to metastasis. We present a brief review of literature of patients who presented with skeletal metastases in clinically silent gall bladder malignancy. Palliative care issues in advanced gall bladder carcinoma have also been discussed.
Mrelashvili, Anna; Braksick, Sherri A; Murphy, Lauren L; Morparia, Neha P; Natt, Neena; Kumar, Neeraj
Rathke's cleft cysts (RCC) are usually benign, sellar and/or suprasellar lesions originating from the remnants of Rathke's pouch. Rarely, RCC can present with chemical meningitis, sellar abscess, lymphocytic hypophysitis, or intracystic hemorrhage. We describe an unusual presentation of RCC in which the patient presented with a clinical picture of chemical meningitis consisting of meningeal irritation, inflammatory cerebrospinal fluid profile, and enhancing pituitary and hypothalamic lesions, in addition to involvement of the optic tracts and optic nerve.
A Winnifred Christy
Lipoma occurring in the palate is rare with only six cases reported in the literature so far. This case of oral lipoma occurring in the hard plate is reported for its rarity and can be considered as a rare possibility in the differential diagnosis of various swellings of the palate.
Chandrakant Patil; Rashmi Kharat Patil; Prasad Deshmukh; Jyotirmoy Biswas; Bassin John
Tuberculosis has global presence and no part of human body is immune to it, most frequent site beings lungs.Nasopharyngeal tuberculosis is a rare type of extrapulmonary tuberculosis comprising only less than1% of tuberculosis found in the upper respiratory tract.The authors are presenting here a case of primary tuberculousis affecting the nasopharynx (adenoids) which is one of the rare differential diagnosis of nasopharyngeal mass.Isolated nasopharyngeal tuberculosis is a rare condition even in the endemic areas.In literature there are varied clinical presentations of nasopharyngeal tuberculosis.Tuberculosis should be one of the differential diagnosis of nasopharyngeal lesion.Biopsy and histologic study should be performed in every patient to avoid misdiagnosis.When treated properly, nasopharyngeal tuberculosis carries a excellent prognosis,and complete resolution of disease is the rule.
Jain, Aditya; Rohilla, Rajesh; Devgan, Ashish; Wadhwani, Jitendra
Tuberculosis tenosynovitis of the wrist and hand is an unusual condition. It mimics a number of other clinical conditions such as ganglion, De quervan's disease, carpal tunnel syndrome, granulomatous gout, neurofibroma, and haemangioma. We present case of 58-year-old male patient with swelling over thenar region of left hand where the initial fine needle aspiration cytology (FNAC) report suggested diagnosis of ganglion/synovial cyst, but the patient did not improve with conservative treatment. FNAC was repeated which showed granulomatous inflammation consistent with the clinical diagnosis of tuberculosis and antitubercular therapy for 9 months was given. Swelling disappeared and normal range of movements was attained in adjacent joints at final follow-up of 12 months from initiation of antitubercular treatment (ATT). The literature on the management of tubercular tenosynovitis has mostly incorporated surgical method as one of the first-line treatments. We report an unusual case, where the tenosynovitis of wrist completely responded within 12 months of ATT without any need of surgical treatment.
Ashima Datey Chakrabarty
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.
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.
Full Text Available Abstract Introduction Schwannoma is a rare tumor among pancreatic neoplasms. Schwannomas vary in size, and most of them are cystic, mimicking pancreatic cystic lesions. Generally, a definitive diagnosis is made at the time of histological analysis. The mainstay treatment is surgical resection. Case presentation We report an unusual presentation of pancreatic schwannoma with abdominal pain and several episodes of cholangitis in a 54-year-old Caucasian (Iranian man. The condition was not diagnosed pre-operatively and Whipple's procedure was performed. Conclusion Pancreatic schwannoma is an important clinical entity to include in the differential diagnosis of pancreatic lesions. Pre-operative diagnosis is difficult but computed tomographic findings may be helpful. The tumor may also have atypical and rare presentations, such as cholangitis and weight loss. For benign tumors, simple enucleation is usually adequate, whereas malignant tumors require standard oncological resection.
Bhat, Manzoor A; Laway, Bashir A; Allaqaband, Faheem A; Kotwal, Suman K; Wani, Imtiyaz A; Banday, Khursheed A
Sheehan's syndrome occurs as a result of ischemic pituitary necrosis secondary to severe postpartum bleeding. It is one of the most common causes of hypopituitarism, characterized by variable clinical presentation. Acute kidney injury occurs rarely in Sheehan's syndrome and most of the cases have been found to be precipitated by rhabdomyolysis. We here present a case of Sheehan's syndrome with acute kidney injury where theprecipitating cause was chronic hypocortisolemia. We believe this is the first reported case of Sheehan's syndrome in which acute kidney injury was precipitated by adrenal insufficiency.
Full Text Available Background. Tuberculosis is a chronic disease which may have varied presentations. Though pulmonary tuberculosis is the commonest, extrapulmonary tuberculosis involving skeletal system is often seen. Individuals with poor nourishment and immunological status are especially susceptible for disseminated and multicentric tuberculosis. Case Report. We here present a case of tuberculosis involving multiple anatomical locations in an immune-competent patient which was diagnosed with radiological studies and confirmed with histological examination. Patient was put on multidrug antitubercular therapy and responded well to the treatment with improvement in clinical and radiological picture. Clinical Relevance. This report of a rare case makes us aware of the varied presentations which tuberculosis can present with. It should be kept as a differential diagnosis in patients with cough and fever but not responding to conventional treatment. This is even more important in countries with poor socioeconomic conditions.
Kanwar A. J
Full Text Available A 25 year old female presented with an asymptomatic reddish brown nodule on the nose. History of ulceration and bleeding suggested a diagnosis of granuloma pyogenicum. The lesion was excised. Histology revealed features of Spitz naevus.
Full Text Available This report presents a sixty year old female with unusual appearance of bilateral xanthelasma palpebrarum of periorbital region. These lesions were approximately 7 cm × 3 cm in dimensions. Patient’s main complaints were aesthetic appearance and hindrance in downward gaze. Considering the size of the lesions surgical excision was planned and the raw area covered with full thickness skin grafts from supra clavicular region. The aesthetic and functional outcome was good. The aim of this case report is to put forward an unusual presentation of xanthelasma, at the same time to keep in mind the surgical excision with full thickness skin grafting as an excellent treatment modality for periorbital xanthelasma palpebrarum especially in large lesions where other modalities have their own limitations.
Astigueta, Juan Carlos; Abad-Licham, Milagros; Silva, Eloy; Alvarez, Víctor; Piccone, Francis; Cruz, Enrique; Redorta, Joan Palou
It is very uncommon for urothelial carcinoma to develop in an ureterocele. It is generally discovered in an imaging study or in connection with haematuria. We found very few reports in the literature. Here, we report on the case of a 71-year-old male who initially presented with haematuria and low back pain and who then underwent transurethral resection for an intraureterocele tumour. Pathology confirmed urothelial carcinoma.
Vinay, Keshavamurthy; Chandrasegaran, Ariganesh; Kanwar, Amrinder J; Saikia, Uma N; Kaur, Harsimran; Shivaprakash, M R; Dogra, Sunil
Mucormycosis is an uncommon systemic mycosis affecting the immunocompromised individuals. It is usually caused by organisms of the genera Rhizopus and Mucor, although rarely other organisms have also been implicated. Mycoses due to these angioinvasive fungi have an acute onset, rapidly progressive course with high mortality rate. A rare and less well known is the chronic subtype of primary cutaneous mucormycosis (PCM). Herein, we report a case of PCM clinically presenting as a chronic, giant destructive plaque in a young immunocompetent male and coin the term chronic granulomatous mucormycosis. A clinicopathological classification for cutaneous mucormycosis is also proposed.
Sacchidanand, S; Sharavana, S; Mallikarjun, M; Nataraja, H V
Cutaneous tuberculosis continues to be an important public health problem even with the availability of highly effective anti-tuberculous drugs. It constitutes 0.1% of all cases of extrapulmonary tuberculosis. Lupus vulgaris is the most common form of cutaneous tuberculosis that occurs in previously sensitized individuals with a moderate degree of immunity against tubercle bacilli. The different types of lupus vulgaris include plaque, ulcerative, vegetative, papular and nodular, and tumor forms. A 40-year-old man presented with large multiple plaques over right upper limb, right side of chest and back, and right lower limb for the past 30 years. Histopathology showed numerous noncaseating granulomas with Langhan's type of giant cells. The Mantoux test showed strong positivity and there was excellent response to anti-tuberculous treatment. This case is being reported because of its extreme chronicity of 30 years duration, unusually large size and multiplicity of lesions.
Thomas, Vijy Paul
A case of Morgagni hernia presenting in adulthood is presented. This form of congenital diaphragmatic hernia is rare in itself and is known to present in adulthood in some cases. But presentation after having undergone three surgeries-PDA ligation, appendicectomy and a full term pregnancy followed by LSCS is even rarer. This case is therefore by any yardstick an extremely rare one.
Full Text Available How to Cite This Article: Eslamiyeh H, Ashrafzadeh F, Akhondian J, Beiraghi Toosi M. Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis. Iran J Child Neurol. Spring 2015;9(2:53-57.AbstractObjectiveHomocystinuria is an inborn error of amino acid metabolism caused by cystathionine beta-synthase deficiency that affects methionine metabolism. The clinical features are heterogeneous ranging from mental retardation, ectopia lentis, and osteoporosis to vascular events such as deep vein thrombosis, sagital sinus thrombosis, and myocardial infarction. Cerebral sinovenous thrombosis (CVST is an unusual disorder in children and requires prompt and accurate management. Some causal factors for thedevelopment of CVST differ between children and adults. The majority of cases with CSVT are found to have an underlying cause for thrombosis like dehydration, infections, prothrombotic and hematologic disorders, malignancy and trauma.Although homocystinuria is usually associated with ischemic strokes, CVST as initial clinical presentation of homocystinuria is rare in children.In this article, we presented a 10-year old boy with seizure, hemiparesis, and ataxia due to CSVT caused by homocystinuria.
Jul 29, 2011 ... while there was an associated mild pain in the second case. In both cases, the clinical ... scan (CECT) of the brain was done to rule out coexistent neurological ... Musculocutaneous and visceral cysticercosis: A rare disease?
Debadatta, Mohapatra; Mishra, Ajay K
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.
Khan, Fazal; Hamid, Arsalan; Fatima, Benish; Hashmi, Shiraz; Fatimi, Saulat
A 25-year-old man presented with a 2-month history of dysphagia and past history of pulmonary and intestinal tuberculosis. A barium swallow showed a point of constriction 42 mm above the gastroesophageal junction. Computed tomography revealed large opacities in bilateral lung fields, encroaching more on the esophagus. The lesion progressively compressed the esophagus as it moved inferiorly. A right posterolateral thoracotomy was performed for sub-anatomical resection of the mass. A biopsy revealed homogenous whirling hyalinized collagen fibers, highly suggestive of pulmonary hyalinizing granuloma, with no evidence of malignancy. Pulmonary hyalinizing granuloma should be considered in the differential diagnosis of longstanding dysphagia.
AE El-Shazly; S Barriat; PP Lefebvre
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...
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...
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.
Gastrointestinal stromal tumours （GISTs） are the mostcommon mesenchymal tumour of gastro-intestinaltract. Annual incidence of GIST in United States isapproximately 3000-4000. Clinical presentation ofGIST varies with location and size of tumour but GISTpresenting with palpable abdominal mass is rare. Wereport a case of 38 years old male who presented withlarge abdominal lump. Computed tomography （CT）scan showed a large solid-cystic lesion encasing secondpart of duodenum and distal common bile duct. On CTdifferential diagnosis of Leiomyoma, Leiomyosarcomaand GIST were made. The diagnosis of GIST wasconfirmed by immune-histochemical study of the biopsymaterial. Patient underwent pancreaticodudenectomy.Post-operative course was uneventful. Patient wasstarted on Imatinib therapy post-operatively. Norecurrence noted at six months follow up.
Gundannavar, Gayatri; Rosh, Radhika M; Chandrasekaran, Shoba; Hussain, Ahad M
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.
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.
Almodovar-Real, Ana; Aneiros-Fernández, Jose; Molina-Leyva, Alejandro; Fernandez-Pugnaire, Ma Antonia
Palmoplantar lichen planus is a localized and rare subtype of lichen planus (LP) often underdiagnosed. Several morphological types of palmoplantar lesions have been defined in LP. We present an unusual case of the palmoplantar kyperkeratotic variant of LP. Histopathology examination confirmed our diagnosis. We emphasize the importance of this rare entity in the differential diagnosis of palmoplantar dermatoses.
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.
Mohd Jafar Memon
Full Text Available Pancreatic neoplasms are rare in children and have a different histo-logic spectrum and prognosis than those in adults. Pancreatoblastoma is the most common pancreatic neoplasm in young children. Solid pseudopapillary neoplasm occurs in adolescent girls. It is heterogeneous in internal architecture, with a mixture of solid and cystic hemorrhagic and necrotic elements. All pancreatic neoplasms in children are capable of producing metastases, usually to the liver and lymph nodes; however, on the whole, these tumors have a better clinical outcome than most pancreatic tumors in adults. We present a case of solid pseudopapillary neoplasm with a liver metastasis in a 13 year old male patient. [Int J Res Med Sci 2016; 4(7.000: 3090-3093
Praveen S Rathod
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.
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.
Mohindra, Satyawati; Gupta, Bhumika; Gupta, Karan; Bal, Amanjit
This article reports an unusual case of tracheal mucormycosis following H1N1 pneumonia and reviews previously reported cases. A 40-y-old female with a 5-y history of diabetes mellitus, adequately controlled by oral hypoglycemic agents, developed tracheal mucormycosis after successful treatment for H1N1 pneumonia. The condition was diagnosed during workup for decannulation due to subglottic and upper tracheal obstruction by necrotic chewing gum-like tissue and cartilage. The patient was managed successfully by treatment with amphotericin B and surgical intervention in the form of laryngofissure and Montgomery tube placement. A review of the literature revealed only 5 previously reported cases of tracheal mucormycosis. A high degree of suspicion, early endoscopy and biopsy, histopathological evidence of the infection, and early institution of therapy are the keys to successful outcome.
Otu, Akaninyene Asuquo; Anikwe, Jude Chinedu; Cocker, Derek
Key Clinical Message While rare, Fahr's disease should be considered as a differential diagnosis for seizures, movement disorders, or cognitive impairment in tropical settings. Classically, bilateral calcification of the basal ganglia is seen on CT. Endemic infections, metabolic, and toxic causes should be excluded. Treatment using Levodopa is often beneficial. PMID:26509011
Antonio Adolfo Guerra Soares Brandão
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.
Mony, Shruti; Patil, Pradnya D.; English, Rebekah; Das, Ananya; Culver, Daniel A.
Sarcoidosis is a multisystem granulomatous syndrome of unknown etiology with noncaseating epithelioid granulomas being the pathognomonic pathological finding. Sarcoidosis most commonly involves the lungs and involvement of the gastrointestinal (GI) tract is uncommon. Pancreatic sarcoidosis is very rare, especially when it is the presenting feature of sarcoidosis and can masquerade as pancreatic cancer. Tissue infiltration in pancreatic sarcoidosis can lead to either a diffuse nodular appearance or a mass-like lesion. We present an interesting case of a 47-year-old woman with a 10-pack-year history of smoking who presented with sharp epigastric pain, weight loss, and elevated lipase level. CT and MRI imaging showed a 4 cm × 5 cm heterogeneous pancreatic mass with a dilated pancreatic duct and peripancreatic lymphadenopathy. Endoscopic ultrasound guided FNA revealed noncaseating granulomas with no evidence of malignancy or atypical infection. CT of the chest revealed bilateral mediastinal and hilar adenopathy with calcification, without any parenchymal abnormalities, and her angiotensin-converting enzyme level was elevated at 170 U/L. The clinical picture pointed to the diagnosis of pancreatic sarcoidosis. Given the severity of gastrointestinal symptoms related to pancreatic sarcoidosis, prednisone therapy at 0.5 mg/kg/day was initiated with complete resolution of symptoms at 8 weeks.
Full Text Available Objective. We report a rare and unusual case of bronchial carcinoma presenting with symptoms of complications of sinonasal disease. Case Report. A 66-year-old lady was referred with a 1-week history of progressive ocular pain, chemosis, and visual disturbance. Computed tomography of the paranasal sinuses revealed frontal and ethmoidal sinus opacification with orbital involvement consistent with a diagnosis of orbital cellulitis secondary to sinusitis. Surgical exploration revealed that the sinuses and right orbit were filled with soft tissue and subsequent histopathological examination of the biopsies indicating metastases from an adenosquamous bronchial carcinoma. Further imaging revealed a large, asymptomatic, bronchial primary with deposits in the brain and liver. The advanced presentation of the disease limited treatment to best supportive care. Conclusion. Orbital cellulitis and sinonasal malignancies have a similar pattern of clinical presentation, posing a potential diagnostic pitfall. There are only two previously reported cases of metastatic lung carcinoma in the frontal sinus with 15 cases of sinonasal tract involvement reported overall. There are no reported cases of adenosquamous carcinoma in the sinonasal tract.
Asma, A Affee; Kannah, E
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.
Bilreiro, Carlos; Bahia, Carla; Castro, Miguel Oliveira e
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. PMID:27069976
Full Text Available Urachus fistulas are rare, especially in adulthood. In grown-ups urachus fistulas are usually a reflection of Crohn’s disease. We present a patient in whom an urachus fistula was the first presentation of diverticulitis of the sigmoid colon. The need for proper preoperative diagnostic imaging is discussed.
Sachdeva, Pallavi; Minocha, Priyanka; Jain, Rohit; Sitaraman, Sadasivan; Goyal, Manisha
Proteus syndrome (PS) is an extremely rare and complex disorder. Approximately 200 cases have been reported, and it seems to affect people of all ethnic and racial groups. PS is characterized by segmental overgrowth of multiple tissues and organs including vascular malformations, lipomatous overgrowth, hyperpigmentation, and various types of nevi. We hereby present a 7-year-old boy who presented with seizures and overgrowth of one-half of the body. Although classical physical features have been described, epilepsy and other neurological manifestations are rarely reported features of PS. Early detection of association of epilepsy and hemimegalencephaly with PS can prevent/minimize the neurological complications, disability, morbidity, and mortality. PMID:28553400
Hamidi, Hidayatullah; Muhammadi, Marzia; Saberi, Bismillah; Sarwari, Mohammad Arif
Trichobezoar is a rare clinical entity in which a ball of hair amasses within the alimentary tract. It can either be found as isolated mass in the stomach or may extend into the intestine. Trichobezoars mostly occur in young females with psychiatric disorders such as trichophagia and trichotillomania. Authors present a giant trichobezoar in an 18year old female presented with complaints of upper abdominal mass, epigastric area pain, anorexia and weight loss. The patient underwent trans-abdominal ultrasonography (USG), Computed tomography (CT), upper gastrointestinal endoscopy and subsequently laparotomy. USG was inconclusive due to non-specific findings. It revealed a thick echogenic layer with posterior dirty shadowing extending from the left sub-diaphragmatic area to the right sub hepatic region obscuring the adjacent structures. Abdominal CT images revealed a huge, well defined, multi-layered, heterogeneous, solid appearing, non-enhancing mass lesion in the gastric lumen extending from the gastric fundus to the pyloric canal. An endoscopic attempt was performed for removal of this intraluminal mass, but due to its large size, and hard nature, the endoscopic removal was unsuccessful. Finally the large trichobezoar was removed with open laparotomy. Trichobezoars should be suspected in young females with long standing upper abdominal masses; as the possibility of malignancy is not very common in this age group. While USG is inconclusive, trichobezoar can be accurately diagnosed with CT. In patient with huge trichobezoar, laparotomy can be performed firstly because of big size and location of mass, and psychiatric recommendation should be made to prevent relapse of this entity. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.
Ansari, Hossein; Robertson, Carrie E; Lane, John I; Viozzi, Christopher F; Garza, Ivan
Synovial cysts of the temporomandibular joint are rare, and to our knowledge, only 14 cases have been reported. The most common presentation is local pain and swelling. We present a case of a synovial cyst presenting with neuralgia in the distribution of the auriculotemporal nerve, initially misdiagnosed as trigeminal neuralgia.
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.
Ekrem Cengiz Seyhan
Full Text Available Synovial sarcoma (SS is a rare tumor originating from mesenchymal tissue and accounting for approximately 5–10% of all soft tissue sarcomas. A rare case of primary pulmonary SS in an asymptomatic 18-year-old man admitted to our hospital for investigation of a 6 × 6.5 cm, oval-shaped, well-delineated pleural based peripheral mass in the left lower lobe in his thorax CT is presented. Left lower lobectomy was done. Immunohistochemically, tumor cells were positive for cytokeratin, epithelial membrane antigen (EMA, and vimentin so that the histopathological diagnosis was compatible with biphasic spindle cell type SS in the lung.
Full Text Available 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 ischemicstrokes 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 moyamoyarefers 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 presentationof moyamoya disease. She was diagnosed by magnetic resonance imaging (MRI and magnetic resonance angiography (MRA.
Full Text Available Frontotemporal dementia is an important neurodegenerative disorder accounting for a significant proportion of dementia cases with onset before 60 years of age. Apart from the well recognized behavioral changes the disease has many other distinctive features like predominant language involvement alone or associated features of motor neuron disease or parkinsonism etc. which at times may be the presenting manifestation itself. In the following article we describe a rare presenting manifestation; prosopagnosia, in the setting of frontotemporal degeneration
Shende, Prajakta; Gandhewar, Manisha; Gaikwad, Pradip; Nanaware, Sandip; Risbud Joshi, Prachi
Tuberculosis (TB), being a global health problem, represents variedly. Its presentation as a labial swelling secondary to pubic bone TB has been reported rarely in literature. We report a case of pubic bone TB presenting as a labial swelling in a woman of reproductive age. Early diagnosis with fine needle aspiration cytology, acid-fast bacillus (AFB) staining, AFB culture and magnetic resonance imaging with early initiation of treatment resulted in a favourable outcome.
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.
Jennifer C. Kam
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.
Wang, Bonnie; Moon, Seong-Jin; Olivero, William C; Wang, Huan
Cerebral venous thrombosis (CVT) remains a diagnostic and therapeutic challenge for clinicians. Manifesting in a remarkably wide spectrum of symptoms and signs, CVT often presents in a misleading fashion-if unrecognized or misdiagnosed, it carries potentially fatal consequences. Visual loss is quite rare as the initial presentation of CVT and is typically a finding more frequent in chronic cases with associated papilledema on funduscopy Ferro, Lopes, Rosas and Fontes (Delay in Hospital Admission of Patients with Cerebral Vein and Dural Sinus Thrombosis. Cerebrovasc Dis 2005;19: :152-6). We report a rare case of acute cortical blindness as the initial presentation of CVT in an 18-year-old female patient and review the current literature.
Sattar, Sidra; Akhunzada, Naveed Z.; Javed, Gohar; Uddin, Zeeshan; Khan, Yasir A.
Background: Pilocytic astrocytoma (PA) is the most prevalent central nervous system (CNS) tumor in pediatric population and accounts for an approximate of 5–6% of all gliomas. This neoplasm can occur at all levels of the neuraxis, with majority (67%) arising in the cerebellum and optic pathway. PAs are World Health Organization Grade I tumors and are the most benign of all astrocytomas characterized by an excellent prognosis. Other differentials include subependymal giant cell astrocytoma (SEGA), ependymoma, meningioma, and low-grade gliomas such as pilocytic or diffuse astrocytoma; calcification is more commonly regarded as a feature of benign or slow-growing tumors. Case Description: We present a case of a 17-year-old female presenting with an unusual cause of hydrocephalus, a rare case of a calcified pilocytic astrocytoma as an intraventricular tumor. Conclusion: PA rarely presents as an intraventricular tumor and should be included in the differential diagnosis of a large mass with massive intratumoral calcification. PMID:28680735
Bogaerts, Jan; Sydes, Matthew R.; Keat, Nicola; McConnell, Andrea; Benson, Al; Ho, Alan; Roth, Arnaud; Fortpied, Catherine; Eng, Cathy; Peckitt, Clare; Coens, Corneel; Pettaway, Curtis; Arnold, Dirk; Hall, Emma; Marshall, Ernie; Sclafani, Francesco; Hatcher, Helen; Earl, Helena; Ray-Coquard, Isabelle; Paul, James; Blay, Jean-Yves; Whelan, Jeremy; Panageas, Kathy; Wheatley, Keith; Harrington, Kevin; Licitra, Lisa; Billingham, Lucinda; Hensley, Martee; McCabe, Martin; Patel, Poulam M.; Carvajal, Richard; Wilson, Richard; Glynne-Jones, Rob; McWilliams, Rob; Leyvraz, Serge; Rao, Sheela; Nicholson, Steve; Filiaci, Virginia; Negrouk, Anastassia; Lacombe, Denis; Dupont, Elisabeth; Pauporté, Iris; Welch, John J.; Law, Kate; Trimble, Ted; Seymour, Matthew
Background The past three decades have seen rapid improvements in the diagnosis and treatment of most cancers and the most important contributor has been research. Progress in rare cancers has been slower, not least because of the challenges of undertaking research. Settings The International Rare Cancers Initiative (IRCI) is a partnership which aims to stimulate and facilitate the development of international clinical trials for patients with rare cancers. It is focused on interventional – usually randomised – clinical trials with the clear goal of improving outcomes for patients. The key challenges are organisational and methodological. A multi-disciplinary workshop to review the methods used in ICRI portfolio trials was held in Amsterdam in September 2013. Other as-yet unrealised methods were also discussed. Results The IRCI trials are each presented to exemplify possible approaches to designing credible trials in rare cancers. Researchers may consider these for use in future trials and understand the choices made for each design. Interpretation Trials can be designed using a wide array of possibilities. There is no ‘one size fits all’ solution. In order to make progress in the rare diseases, decisions to change practice will have to be based on less direct evidence from clinical trials than in more common diseases. PMID:25542058
Pradipta Ghosh; Katsumi Miyai; Mario Chojkier
Advanced gastric cancer usually presents with symptoms due to direct extension into adjacent viscera, distant metastases from lymphatic or hematogenic dissemination and peritoneal seeding. However, portal hypertension as a presentation of metastatic gastric cancer is rare and usually seen in association with other malignancies, e.g. hepatocellular and pancreatic carcinoma. We report a case of signet ring adenocarcinoma of the stomach that presented with esophageal and duodenal varices and bleeding due to portal hypertensive gastropathy. Pagetoid spread of cancer cells likely caused early metastasis and the unusual presentation. We also discussed the pathophysiology of development of portal hypertension in association with malignancies.
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.
Bhagat, Sanjeev; Varshney, Saurabh; Bist, Sampan S; Gupta, Nitin
Schwannomas are rare, benign, slowly growing neurogenic tumors that originate in peripheral, spinal, or cranial nerves other than the optic and olfactory nerves. In the head and neck, these tumors usually arise from the vagus nerve and the cervical sympathetic chain in the parapharyngeal space. Cervical sympathetic chain schwannomas represent a rare subgroup of schwannomas; fewer than 60 cases have been reported in the literature. These tumors are rarely seen in children and adolescents. Because patients typically present with an asymptomatic neck mass and vague complaints, clinical suspicion is important in making the diagnosis. Neural deficits at presentation are uncommon. The presence of features of Horner syndrome before excision is very rare, having been previously reported in only 10 cases of cervical sympathetic chain schwannoma. We report an extremely rare case of a cervical sympathetic chain schwannoma in a child who presented with Horner syndrome. The lesion was successfully excised.
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. PMID:28127475
Full Text Available Pheochromocytoma is a rare tumor in which seen an incidence of 1 per 100.000 in the general population. Pheochromocytoma is a catecholamine producing neuroendocrine tumor arising from adrenal medulla. A 46-year-old man experienced headache, sweating and palpitation referred to our hospital. Familial pheocromocytoma was detected. We presented this case as whole family members had suffered from morbidities and deaths due to this disorder. [Cukurova Med J 2015; 40(3.000: 593-596
Nisahan, Balasingam; Thirunavukarasu, Kumanan; Selvaratnam, Gowry
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.
Full Text Available Prostatic abscess is a rarely described condition and is commonly caused by gram-negative organisms such as enterobacteria. However, as the prevalence of methicillin resistant Staphylococcus aureus (MRSA increases in the community, unusual infections due to this organism have been recently published. In this report, we describe a patient with diabetes mellitus type 2, who presents with diabetic ketoacidosis—later found to be due to a prostatic abscess from which MRSA was cultured.
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.
Sharma, Gaurav; Jain, Kanu; Nagpal, Archna; Baiju, Chandrababu Sudha
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. PMID:27143835
Cox, Deven; Ching, Brian H.
Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA), also known as Herlyn-Werner-Wunderlich syndrome, is a rare syndrome with only a few hundred reported cases described since 1922. Only a handful of these cases have been associated with pyocolpos. Mullerian duct anomalies have an incidence of 2–3%. While OHVIRA constitutes 0.16–10% of these Mullerian duct anomalies. Symptoms usually present shortly after menarche when hematocolpos develops during menstruation resulting in dysmenorrh...
Full Text Available Spontaneous rupture of the spleen with hemoperitoneum is a very rare, but serious manifestation of dengue fever (DF. We report a case of a young female who was presented with atraumatic abdominal pain, hypovolemic shock, anemia, ascites and hepatosplenomegaly with a recent history of a febrile illness. Subsequent investigations proved the presence of hemoperitoneum with spontaneous splenic rupture with seropositivity for DF. Early diagnosis and conservative management in this case resulted in a favorable outcome.
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)
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.)
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.
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.
Bahrani, Saeideh; Tabrizi, Nasim; Moein, Houshang; Zare, Mohammad; Barekatain, Majid; Basiratnia, Reza; Rahimian, Elham; Mehvari Habibabadi, Amirali; Moein, Payam
Background. Hypothalamic hamartomas (HHs) are rare tumor-like malformations that may present with complex partial seizures refractory to anticonvulsants in adulthood. The condition may be misdiagnosed because of rarity. Case Presentation. We report a 25-year-old man with complaint of seizures presented by falling, tonic spasm of limbs, oral automatism, vocalization, and hypermotor activities. His seizures started at the age of one month and presented as eye deviation and upper limbs myoclonic jerk, followed by frequent seizures with variable frequency. The patient had delayed developmental milestones and was mentally retarded. He was hospitalized and underwent video-EEG monitoring and neuroimaging, and the diagnosis of HH was made. The patient became candidate for surgery after that. Conclusion. In this case, the underlying etiology of seizures was diagnosed after 25 years. HH is a rare condition and neurologists may encounter very small number of these cases during their practice. Therefore, they should consider it in patients who present with suspected signs and symptoms. PMID:28246530
Full Text Available Background. Hypothalamic hamartomas (HHs are rare tumor-like malformations that may present with complex partial seizures refractory to anticonvulsants in adulthood. The condition may be misdiagnosed because of rarity. Case Presentation. We report a 25-year-old man with complaint of seizures presented by falling, tonic spasm of limbs, oral automatism, vocalization, and hypermotor activities. His seizures started at the age of one month and presented as eye deviation and upper limbs myoclonic jerk, followed by frequent seizures with variable frequency. The patient had delayed developmental milestones and was mentally retarded. He was hospitalized and underwent video-EEG monitoring and neuroimaging, and the diagnosis of HH was made. The patient became candidate for surgery after that. Conclusion. In this case, the underlying etiology of seizures was diagnosed after 25 years. HH is a rare condition and neurologists may encounter very small number of these cases during their practice. Therefore, they should consider it in patients who present with suspected signs and symptoms.
Peripheral Primitive Neuroectodermal Tumors (PNETs) are rare lesions that arise from outside the central nervous system and normally do not affect the genitourinary system. Primary renal presentations are extremely rare but given their aggressive behavior and characteristic cytomorphologic and genetic features should be considered well-defined distinct clinical entities in order to distinguish them from other primary tumors featuring round cells in the kidney. We report one case of PNET invol...
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.
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.
Cianfoni, Alessandro [Neurocentro della Svizzera Italiana, Ospedale Civico di Lugano, via Tesserete, 46, 6900 Lugano (Switzerland); Pravatà, Emanuele, E-mail: firstname.lastname@example.org [Neurocentro della Svizzera Italiana, Ospedale Civico di Lugano, via Tesserete, 46, 6900 Lugano (Switzerland); De Blasi, Roberto [Neurocentro della Svizzera Italiana, Ospedale Civico di Lugano, via Tesserete, 46, 6900 Lugano (Switzerland); Tschuor, Costa Silvia [Dipartimento di Radiologia, Ospedale Civico di Lugano, via Tesserete, 46, 6900 Lugano (Switzerland); Bonaldi, Giuseppe [U.O. Neuroradiologia, Ospedali Riuniti di Bergamo, Largo Barozzi, 1, 24128 Bergamo (Italy)
Presentation of a cerebral aneurysm can be incidental, discovered at imaging obtained for unrelated causes, can occur in the occasion of imaging obtained for symptoms possibly or likely related to the presence of an unruptured aneurysm, or can occur with signs and symptoms at the time of aneurismal rupture. Most unruptured intracranial aneurysms are thought to be asymptomatic, or present with vague or non-specific symptoms like headache or dizziness. Isolated oculomotor nerve palsies, however, may typically indicate the presence of a posterior circulation aneurysm. Ruptured intracranial aneurysms are by far the most common cause of non-traumatic subarachnoid hemorrhage and represent a neurological emergency with potentially devastating consequences. Subarachnoid hemorrhage may be easily suspected in the presence of sudden and severe headache, vomiting, meningism signs, and/or altered mental status. However, failure to recognize milder and more ambiguous clinical pictures may result in a delayed or missed diagnosis. In this paper we will describe the clinical spectrum of unruptured and ruptured intracranial aneurysms by discussing both typical and uncommon clinical features emerging from the literature review. We will additionally provide the reader with descriptions of the underlying pathophysiologic mechanisms, and main diagnostic pitfalls.
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.
S. P. K. Kennedy Babu
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.
Mohammad Reza Mohaghegh
Full Text Available Ependymomas are glial tumors derived from ependymal cells lining the ventricles and the central canal of the spinal cord. Two thirds of ependymomas arise in the infratentorial or intraventricles, whereas one-third are located in supratentorial space. But supratentorial "cortical" ependymomas are very rare. We report a case of a cortical ependymoma in a 17-year-old boy. The patient presented with transient recurrent right weakness and diplopia. This tumor was located in the left parieto-occipital region and he had gross total excision. Microscopy and immunohistochemistry showed grade III differentiation ependymoma.
Mohaghegh, Mohammad Reza; Chitsaz, Ahmad; Okhovat, Ali Asghar; Pour, Elnaz Babaei
Ependymomas are glial tumors derived from ependymal cells lining the ventricles and the central canal of the spinal cord. Two thirds of ependymomas arise in the infratentorial or intraventricles, whereas one-third are located in supratentorial space. But supratentorial "cortical" ependymomas are very rare. We report a case of a cortical ependymoma in a 17-year-old boy. The patient presented with transient recurrent right weakness and diplopia. This tumor was located in the left parieto-occipital region and he had gross total excision. Microscopy and immunohistochemistry showed grade III differentiation ependymoma.
Gallamini, Andrea; Hutchings, Martin; Ramadan, Safaa
. The main body of the review will be dedicated to the recently published guidelines for lymphoma staging (including HL) agreed by the experts during the 12th International Congress for Malignant Lymphoma in Lugano. The recommendations of the panel on how to integrate flurodeoxyglucose positron emission......, 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...
Banshi Lal Kumawat
Full Text Available Sporadic Creutzfeldt-Jakob disease (sCJD can have varied clinical presentation depending upon the genotype at codon 129. The common presenting clinical features of sCJD are rapid onset cognitive impairment, ataxia, psychosis and visual signs (field defects, distortion, cortical blindness. Alien limb sign was first described in patients with corpus callosal tumors and later with other neurodegenerative conditions like corticobasal degeneration. Alien hand complaints as the presenting feature of sCJD has been described in literature, but simultaneous alien hand and leg has been rarely described as presenting feature of sCJD. We describe here a case of a 55-year-old man who presented with progressive left alien hand and leg as the sole clinical manifestation of probable sCJD.
Kumawat, Banshi Lal; Sharma, Chandra Mohan; Nath, Kunal; Acharya, Mihir; Khandelwal, Dinesh; Jain, Deepak
Sporadic Creutzfeldt-Jakob disease (sCJD) can have varied clinical presentation depending upon the genotype at codon 129. The common presenting clinical features of sCJD are rapid onset cognitive impairment, ataxia, psychosis and visual signs (field defects, distortion, cortical blindness). Alien limb sign was first described in patients with corpus callosal tumors and later with other neurodegenerative conditions like corticobasal degeneration. Alien hand complaints as the presenting feature of sCJD has been described in literature, but simultaneous alien hand and leg has been rarely described as presenting feature of sCJD. We describe here a case of a 55-year-old man who presented with progressive left alien hand and leg as the sole clinical manifestation of probable sCJD. PMID:25745324
Moniuszko, Anna; Zajkowska, Agata; Tumiel, Ewa; Rutkowski, Krzysztof; Pancewicz, Sławomir; Rutkowski, Ryszard; Zdrodowska, Agnieszka; Zajkowska, Joanna
Background. Tetanus is an acute disease caused by a neurotoxin produced by Clostridium tetani. Tetanus immunization has been available since the late 1930s but sporadic cases still occur, usually in incompletely vaccinated or unvaccinated individuals. Case Report. An elderly previously vaccinated female contracted tetanus following foot injury. Clinically she presented with meningitis causing diagnostic and therapeutic delays. Why Should Physician Be Aware of This? Even in developed countries the differential diagnosis of meningitis, especially in the elderly, should include tetanus. Treatment in intensive care unit is required. General population might benefit from vaccine boosters and education on this potentially fatal disease. PMID:25789186
Full Text Available Background. Tetanus is an acute disease caused by a neurotoxin produced by Clostridium tetani. Tetanus immunization has been available since the late 1930s but sporadic cases still occur, usually in incompletely vaccinated or unvaccinated individuals. Case Report. An elderly previously vaccinated female contracted tetanus following foot injury. Clinically she presented with meningitis causing diagnostic and therapeutic delays. Why Should Physician Be Aware of This? Even in developed countries the differential diagnosis of meningitis, especially in the elderly, should include tetanus. Treatment in intensive care unit is required. General population might benefit from vaccine boosters and education on this potentially fatal disease.
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.
Bhardwaj, Parveen; Sharma, Ravi; Sharma, Minoo
Homocystinuria is an inborn error of amino acid metabolism in which homocystine accumulates in the blood and produces a slowly evolving clinical syndrome. We are presenting a case of a 4-year-old female child who presented to us with stroke and also had megaloblastic anemia. She was diagnosed as having homocystinuria type-1, and she responded to treatment.
George Peter; Hegde Narasimha
Leptospirosis is a zoonotic infection with higher incidence in tropics. Leptospirosis, is known for its variable manifestations, and is a clinical challenge for physicians in the tropics. Experienced clinicians, at times can mistake leptospirosis for non-medical conditions. A few reports of leptospirosis presenting as acalculous cholecystitis was found in review of literature. We intent to highlight acalculous cholecystitis as a rare but clinically significant presentation of leptospirosis.
Sah, Birendra P; Sharma, Bikram; Iannuzzi, Michael C
We report a case of orbital sarcoidosis in a 66 year old male who presented with one month history of right eye swelling and intermittent diplopia. MRI revealed an enhancing infiltrative soft tissue mass in the inferior aspect of the right orbit and biopsy of the mass demonstrated non-necrotizing granulomas. Chest CT scan was normal and PET scan showed no other organ involvement. He was treated with tapering doses of prednisone over six months. Although relapse occurred while tapering prednisone to 20 mg per day, he responded well to the addition of azathioprine with complete resolution of visual difficulties and orbital the mass on repeat MRI. Sarcoidosis, presenting as an isolated orbital mass is rare, can be successfully treated and should be included in differential diagnosis.
Full Text Available Cryptococcal meningoencephalitis is a leading of morbidity and mortality in immunocompromised individuals worldwide. However, there are few documented cases in immunocompetent patients. We present a rare case of disseminated Cryptococcus with progression to meningoencephalitis in an immunocompetent patient, with a possible atypical presentation. Magnetic resonance imaging of the brain and electroencephalogram to rule out brain metastasis were negative. Lumbar puncture resulted positive for Cryptococcus neoformans antigen at titers of 1:2048 and a detailed history later revealed occupational exposure to bird dander by cleaning floors and cages. Diagnosis is challenging, with delays often resulting in increased morbidity and mortality. Cerebrospinal fluid and serum Cryptococcus antigen play a key role in both diagnosis and determining treatment efficacy. Furthermore, current treatment guidelines are used for immunocompromised individuals. Due to the significant side effects of these medications, further research is needed to determine the optimal treatment duration for immunocompetent patients to minimize the need for unnecessary therapy.
Chan, Jin Ei; Palakodeti, Sandeep; Koster, Matthew J
Antisynthetase syndrome (ASS) is recognized as a subgroup of idiopathic inflammatory myopathies (IIMs). It is associated with autoantibodies directed against aminoacyl-transfer ribonucleic acid (tRNA) synthetase enzymes. We report the first case of anti-PL-7/anti-SSA 52kD ASS presenting as acute digital ischemia, an association not described previously. Occlusive vasculopathy is a rare but serious manifestation that can be seen at presentation in patients with ASS and may herald the onset of severe interstitial lung disease (ILD). Comprehensive evaluation should be performed to confirm the presence of subclinical myositis. Extensive myositis-specific antibody testing is strongly recommended even if initial screening autoimmune serologies are unrevealing.
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.
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.
Full Text Available Malignancy in pregnancy is rare. Carcinomas in pregnancy are mostly kidney cell mass. Renal cell carcinoma (RCC is the commonest malignancy in pregnancy. Because of softness and increased vascularity, rupture of renal cell carcinoma is not uncommon. Here we are presenting a rare case of renal cell carcinoma in pregnancy with spontaneous rupture resulting in massive hemoperitoneum and serious outcome because of late presentation renal cell carcinoma seldom ruptures. A 26 year old woman G2P1L1 with term pregnancy was referred to hospital 80kms away from periphery with non-progression of labour. There was antenatal record suggesting hypertensive disorder of pregnancy in second trimester. On examination, patient was in hypovolemic shock with profuse distension of abdomen. Diagnosis of abruption grade 3 or rupture uterus was made and immediate laparotomy was done. On opening the abdomen, there was hemoperitoneum but uterus was intact. Emergency LSCS done extracted a stillborn baby. There were no retro placental clots also. There was lot of necrotic tissue in the abdomen and there was a tumour arising from lower pole of left kidney which had invaded the renal vessels and had ruptured. Peripartum hysterectomy and left nephrectomy was done. Women did not respond to treatment and died. The objective of presenting this case is the dilemmas faced by the obstetrician in case of shock in 2nd stage of labour. Simple diagnostic tool like renal ultrasound will help to detect at an early stage which could improve the outcome. All cases of hypertensive disorders of pregnancy should be investigated for secondary causes of hypertension. Abdominal USG must be done for all cases of hypertensive disorders of pregnancy in 2nd trimester. Prompt diagnosis and early treatment is the key in management of such condition in pregnancy. [Int J Reprod Contracept Obstet Gynecol 2016; 5(5.000: 1677-1679
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
Full Text Available Simple bone cyst represent approximately 3% of all primary bone tumors sampled for biopsy and nearly always occur during the first two decades of life. They are common in metaphyseal region of long bones. Clavicle is rare s ite for this lesion and not many have been reported in literature. We report a case of Histopathologically confirmed Simple bone cyst in a 65 yr s old manual laborer who presented with pain and swelling of long duration. The occurrence of this lesion at unu sual age and at unusual location carries a lot of diagnostic dilemma and various differentials like ABC , Eosinophilic granuloma , and enchondroma were considered only to confirm simple bone cyst on HPE . The symptoms were relieved after resection of lesion. Clavicle was reconstructed with tricortical iliac crest bone graft. At 18th month follow up the patient had no recurrences and had a good functional outcome .
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.
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.
Tkachenko, Lara; Moisi, Marc; Rostad, Steven; Umeh, Randle; Zwillman, Michael E; Tubbs, R. Shane; Page, Jeni; Newell, David W.; Delashaw, Johnny B
A 69-year-old female with a history of breast cancer and hypertension presented with a rare case of herpes simplex encephalitis (HSE) isolated to her left parietal lobe. The patient’s first biopsy was negative for herpes simplex virus (HSV) I/II antigens, but less than two weeks later, the patient tested positive on repeat biopsy. This initial failure to detect the virus and the similarities between HSE and symptoms of intracranial hemorrhage (ICH) suggests repeat testing for HSV in the presence of ICH. Due to the frequency of patients with extra temporal HSE, a diagnosis of HSE should be more readily considered, particularly when a patient may not be improving and a concrete diagnosis has not been solidified. PMID:27774355
Fisahn, Christian; Tkachenko, Lara; Moisi, Marc; Rostad, Steven; Umeh, Randle; Zwillman, Michael E; Tubbs, R Shane; Page, Jeni; Newell, David W; Delashaw, Johnny B
A 69-year-old female with a history of breast cancer and hypertension presented with a rare case of herpes simplex encephalitis (HSE) isolated to her left parietal lobe. The patient's first biopsy was negative for herpes simplex virus (HSV) I/II antigens, but less than two weeks later, the patient tested positive on repeat biopsy. This initial failure to detect the virus and the similarities between HSE and symptoms of intracranial hemorrhage (ICH) suggests repeat testing for HSV in the presence of ICH. Due to the frequency of patients with extra temporal HSE, a diagnosis of HSE should be more readily considered, particularly when a patient may not be improving and a concrete diagnosis has not been solidified.
Rade R. Babić
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.
Conclusion: The diagnosis of eosinophilic fasciitis is challenging due to the lack of pathognomonic signs and symptoms. As spontaneous resolution has been described, watchful waiting is defendable depending on the clinical presentation. Although magnetic resonance imaging (MRI can be useful in establishing the diagnosis, a deep muscle biopsy remains the gold standard diagnostic tool.
Miranda, Benjamin H; Malahias, Marco; El-Said, Tarek F A; Fahmy, Fahmy S
A rise in incidence and decrease in mortality rates from breast cancer have lead to an increase in prevalence within developed countries. Presentation is classically with a palpable breast tissue mass that may metastasize to bone, lung, liver, brain, lymph nodes, and skin. We describe a delayed diagnosis, in an 80-year-old female patient, where, on 2 occasions, the primary initial presentation was with a cutaneous squamous cell carcinoma in the right axilla. It was not until the third referral, with an ipsilateral breast lump, that breast cancer was clinically diagnosed. This was histologically identified as the primary malignancy, most likely in-keeping with squamous cell carcinoma of the breast. This unique atypical presentation represents a diagnostic challenge and highlights a clinically relevant learning point that may avoid subsequent diagnostic delay. Cutaneous axillary lesions should be treated with a high index of suspicion, necessitating the requirement for chest examination because of the possible presence of an associated primary breast carcinoma.
Rajput R.; Jain D; Kumar A.; Mittal A
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...
Full Text Available Double elevator palsy (DEP currently known as Monocular Elevation Deficit is a rare condition characterized by restricted elevation of one eye in all positions of up gaze . Clinically it presents as a unilateral restriction of superior rectus (SR and inferior oblique (IO. We present a case report of DEP in 3 year old boy who presented with sudden onset of DEP in right eye in our OPD. Very little information on acquired causes of DEP is available. Diagnosis , differential diagnosis and m anagement are discussed and then the literature is reviewed.
Uzuncakmak, Tugba Kevser; Karadag, Ayse Serap; Izol, Belcin; Akdeniz, Necmettin; Cobanoglu, Bengu; Taskin, Secil
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.
Lindfay Laura Lau
Full Text Available A 34-year-old patient with a swelling over the upper eyelid for nearly 1 year was seen in our clinic. The history, examination and investigations were suggestive of a benign lacrimal gland tumor. The tumor and lacrimal gland were resected. Subsequent histopathological examination revealed the tumor was a primary ductal adenocarcinoma of the lacrimal gland. This is a very rare tumor with less than half a dozen cases reported so far. This case report is being presented to highlight an unusual presentation of this rare malignancy.
Smith, Casey; Streicher, Andrew; Magnuson, Allison; Newman, Susan; Bertoli, Robert
Posttransplantation lymphoproliferative disorder (PTLD) is a recognized and extremely morbid complication of solid organ transplantation, but central nervous system involvement, particularly in isolation, is rare. There are no standardized treatment strategies for PTLD, though commonly used strategies include reduction of immunosuppression, chemotherapy, rituximab, radiation, and surgery. We present a case of an unusual morphologic variant of primary central nervous system PTLD with successful response to rituximab and cranial radiation. A 69-year-old Asian male, who underwent postrenal transplant nine years earlier, presented with a one-month history of new onset seizure activity. His evaluation revealed multiple brain lesions on magnetic resonance imaging (MRI), as well as serologic and cerebrospinal fluid studies which were positive for Epstein-Barr Virus (EBV) infection. Ultimately, he underwent craniotomy with tissue biopsy with the final pathology report showing posttransplant lymphoproliferative disorder, polymorphic type. The patient was managed with reduction in immunosuppression, rituximab therapy, and cranial radiation treatments. He had demonstrated marked improvement in his neurologic function and was ultimately discharged to inpatient rehabilitation facility. PMID:28116196
Mihalek, Andrew D; Haney, Carissa; Merino, Maria; Roy-Chowdhuri, Sinchita; Moss, Joel; Olivier, Kenneth N
Amyloid primarily affecting the lungs is a seldom seen clinical entity. This case discusses the work-up of a patient presenting with exercise-induced haemoptysis and diffuse cystic lung disease on radiographic imaging. The common clinical and radiographic findings of diffuse cystic lung diseases as well as a brief overview of pulmonary amyloid are presented. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/
Full Text Available Ellis-van Creveld (EVC syndrome is a genetic disorder with autosomal recessive transmission, which may clinically present as small stature, short limbs, fine sparse hair, hypoplastic fingernails, multiple musculofibrous frenula, conical teeth, hypoplasia of the enamel, hypodontia, and malocclusion. Heart defects, especially abnormalities of atrial septation, have been found in about 60% of cases. The mutation in EVC and EVC2 gene is responsible for this syndrome. The presence of multiple orodental findings makes this syndrome important for dentists. The aim of this article is to present a rare case of EVC syndrome in a 10-year-old girl along with the review of literature.
Kamal, Reet; Dahiya, Parveen; Kaur, Simerpreet; Bhardwaj, Rohit; Chaudhary, Karun
Ellis-van Creveld (EVC) syndrome is a genetic disorder with autosomal recessive transmission, which may clinically present as small stature, short limbs, fine sparse hair, hypoplastic fingernails, multiple musculofibrous frenula, conical teeth, hypoplasia of the enamel, hypodontia, and malocclusion. Heart defects, especially abnormalities of atrial septation, have been found in about 60% of cases. The mutation in EVC and EVC2 gene is responsible for this syndrome. The presence of multiple orodental findings makes this syndrome important for dentists. The aim of this article is to present a rare case of EVC syndrome in a 10-year-old girl along with the review of literature.
M. Panduranga Kamath
Conclusion: Schwannomas arising in the base of tongue are rare and are not often included in the differential diagnosis. They are usually benign and have excellent prognosis as compared to the usual malignant lesions which occur in the tongue base.
Silva, Igor Henrique; Cardoso, Samantha; Carvalho, Camila Nunes; Carvalho, Alessandra Albuquerque Tavares; Leão, Jair Carneiro; Gueiros, Luiz Alcino
Oral mucoceles are common lesions characterized by accumulation of mucus following rupture of a minor salivary gland duct. However, congenital mucoceles are a rare and distinctive oral condition observed in newborns. This case report details the features of a congenital labial nodule diagnosed as congenital mucocele. These lesions are rare in the oral cavity and should be diagnosed in the delivery room, but many cases are referred for further evaluation. Management is simple, and recurrence is not expected.
Karthick C Annamalai; Shrikiran A; Suneel C Mundkur; Chaitanya Varma PV
Naphthalene moth ball poisoning in children can present with diagnostic and therapeutic challenges. A 2 year old boy who had accidentally consumed unknown number of moth balls presented 3 d later with vomiting, seizures, methemoglobinemia, hemolytic anemia and altered sensorium. He was managed with red blood cell transfusion, IV Methylene blue and Sodium bicarbonate. Clinical and laboratory parameters normalized. We describe this case as ingestional naphthalene poisoning with rare manifestation of metabolic acidosis, with a good outcome after treatment.
Fathi, Afshin; Amani, Firuz; Davoodi, Mohammad; Bahadoram, Sara; Bahadoram, Mohammad
Introduction Nasopharyngeal carcinoma among the children has been rare accounting for only 1% of all pediatric malignancies. Both genetic and environmental factors have contributed to the development of nasopharyngeal carcinoma. Among the children there was a higher rate of undifferentiated histology. The mean age of nasopharyngeal carcinoma diagnosis has been 11 years old age; and the most common site was nasopharynx. Palpable lymphadenopathy, dysphasia and neural defect were common associated signs. Case Presentation A 15-year-old boy has presented with a mass that located near by the heart in the left side of mediastinum with invasion to anterior mediastinum from two years ago. In biopsy, nasopharyngeal carcinoma, non-keratinizing type, has diagnosed while there was no involvement of nasopharyngeal region. Patient has treated by 70 Gy (2.0 Gy/fraction) radiotherapy plus concomitant chemotherapy with base of docetaxel. But the mass had no regression. Then, the patient has treated with Cisplatin 100 mg/m2 IV on days 1, 22, and 43 with radiation, then cisplatin 80 mg/m2 IV on day 1 plus fluorouracil (5-FU) 1000 mg/m2/day by continuous IV infusion on days 1 - 4 every 4wk for 3 cycles and after remission interferon beta has added to treatment for 6 months duration as a maintenance therapy. After 1 year follow up; the patient was in complete remission. In the course of therapy, only hypothyroidism has occurred. Conclusions Nasopharyngeal carcinoma in childhood, without nasopharyngeal involvement, initially could be detected in other sites such as pericardium. Also good results could be respected by cisplatin and 5-fluorouracil based neoadjuvant chemotherapy before radiotherapy plus interferon beta as a maintenance therapy in childhood aggressive nasopharyngeal carcinoma.
Vijayalaxmi Veerabasappa Suranagi
Full Text Available A 55-year-old man presented with multiple, itchy papules and macules on the trunk and extremities. Histopathologic examination of biopsy specimens taken from three different lesions showed a subepidermal blister with amyloid deposits in the dermal papillae. No systemic disease or involvement of other organs was detected. The clinical and histological findings were compatible with a bullous variant of lichen amyloidosis (LA. Primary cutaneous localized amyloidosis usually presents with papular, macular or nodular lesions. Bullous lesions associated with LA are very rare. Furthermore, patient had seven other members in the family with similar lesions, which is also a rare occurrence. We report a case with a rare combination of biphasic, bullous variant of familial LA.
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.
Bhatt, Geetika; Sandhu, Varrinder S; Mitchell, Charlene K
Hepatitis A has a variety of associated extrahepatic manifestations that clinicians should be aware of for early diagnosis and treatment. We report a unique case of hepatitis A presenting with multiple extrahepatic manifestations not previously described in a single patient. A 34-year-old male presented with sudden onset of left sided facial pain, swelling, and skin rash, with diffuse body pains and muscle weakness, and was found to be positive for hepatitis A immunoglobulin M (IgM). He was initially started on antibiotics for concerns of bacterial parotitis but did not show any improvement. A punch biopsy of his mandibular rash and swelling was done which showed lymphohistiocytic infiltration with a few eosinophils. A trial of prednisone resulted in improvement of his symptoms. Clinicians should be aware to look for hepatitis A infection in a patient with atypical clinical picture causing a widespread systemic inflammatory response. Treatment with prednisone may result in resolution.
Full Text Available Hepatitis A has a variety of associated extrahepatic manifestations that clinicians should be aware of for early diagnosis and treatment. We report a unique case of hepatitis A presenting with multiple extrahepatic manifestations not previously described in a single patient. A 34-year-old male presented with sudden onset of left sided facial pain, swelling, and skin rash, with diffuse body pains and muscle weakness, and was found to be positive for hepatitis A immunoglobulin M (IgM. He was initially started on antibiotics for concerns of bacterial parotitis but did not show any improvement. A punch biopsy of his mandibular rash and swelling was done which showed lymphohistiocytic infiltration with a few eosinophils. A trial of prednisone resulted in improvement of his symptoms. Clinicians should be aware to look for hepatitis A infection in a patient with atypical clinical picture causing a widespread systemic inflammatory response. Treatment with prednisone may result in resolution.
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.
Vikram Jeet Singh Dhingra
Full Text Available Presence of one or more digit is called as polydactyly and may manifest singly or with other genetic disorders. The frequency of polydactyly varies widely among populations. It can occur as an isolated condition or as a feature of a congenital condition. Polydactyly is a rare condition, but still rare is in form of triple great toes. We describe a case in a 4-year-old child diagnosed as triphalangism foot with no other obvious visible anomaly. Osteoplasty-combined surgery, which was ideal for anatomical reconstruction. In a 16-month follow-up period child recovered very well.
Uzuncakmak, Tugba Kevser; Karadag, Ayse Serap; Izol, Belcin; Akdeniz, Necmettin; Cobanoglu, Bengu; Taskin, Secil
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 lit...
Full Text Available Hemophagocytic lymphohistiocytosis (HLH is a rare hyper-inflammatory syndrome which is characterized by inappropriate proliferation of lympho-histiocytes which phagocytize hematopoietic cells and thereby give rise to the clinical picture of fever, hepatosplenomegaly and cytopenias. HLH can be primary or secondary due to infections by bacteria, viruses, parasites and fungi. Here we present a case report of simultaneous infection of Plasmodium vivax and visceral leishmaniasis complicated by secondary HLH in a Border Security Force jawan (BSF soldier.
Shahcheraghi, Seyed Hossein; Ayatollahi, Jamshid
Brucellosis is the most widespread zoonotic infection in the world. The disease is endemic in countries bordering the Mediterranean Sea. It is an important re-emerging infectious disease. This disease is closely associated with the evolution of mankind as an agrarian society linked to the practice of shepherding and popularization of animal husbandry. The patients with this disease are typically present with chills, fever, asthenia and sweating. This paper describes a patient with brucellosis and skin rashes on the leg. A 41-year-old man presented with fever, ataxia, and dysarthria. He was a shepherd. The patient reported the loss of appetite, arthralgia and weight loss during previous five months. Finally, he was diagnosed with brucellosis by positive blood culture and high titer for Brucella agglutination test. The clinical manifestation of brucellosis is very broad, ranging from asymptomatic infection to serious debilitating disease. Current patient had skin rashes on his leg. Brucellosis must be considered in the differential diagnosis of acute infections, especially if there is a history of fresh milk product ingestion and living in an endemic region.
Seyed Hossein Shahcheraghi
Full Text Available Brucellosis is the most widespread zoonotic infection in the world. The disease is endemic in countries bordering the Mediterranean Sea. It is an important re-emerging infectious disease. This disease is closely associated with the evolution of mankind as an agrarian society linked to the practice of shepherding and popularization of animal husbandry. The patients with this disease are typically present with chills, fever, asthenia and sweating. This paper describes a patient with brucellosis and skin rashes on the leg. A 41-year-old man presented with fever, ataxia, and dysarthria. He was a shepherd. The patient reported the loss of appetite, arthralgia and weight loss during previous five months. Finally, he was diagnosed with brucellosis by positive blood culture and high titer for Brucella agglutination test. The clinical manifestation of brucellosis is very broad, ranging from asymptomatic infection to serious debilitating disease. Current patient had skin rashes on his leg. Brucellosis must be considered in the differential diagnosis of acute infections, especially if there is a history of fresh milk product ingestion and living in an endemic region.
Full Text Available Glioblastoma multiforme (glioblastoma multiforme - GBM is the most malignant tumor classified by WHO. It is also the most common primary CNS tumor with a very aggressive course and unfavourable prognosis, usually develops in adults, and is typically located supratentorially in the fronto-temporal region. However, the literature describes an unusual position of GBM (e.g. spinal cord, pons, pineal region, familial gliomas unconnected with the family of gliomas predisposed to the occurrence of syndromes, unusual glioma and metastatic sites, gliomas transplanted with organs. In this paper, based on the available literature, the authors discuss an unusual and rare form of glioblastoma multiforme.
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.
Dadaci, Mehmet; Bayram, Fazli Cengiz; Ince, Bilsev; Bilgen, Fatma
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. PMID:27274134
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.
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.
Verma, Rajesh; Bhandari, Aveg; Tiwari, Navin; Chaudhari, Tejendra S
Wilson disease (WD) is one of the few inherited but treatable disorder mainly affecting the liver and brain resulting in severe disability or death if left untreated. Hence, it is important to keep a high index of suspicion for diagnosing this clinical entity in appropriate clinical settings. The clinical presentation can be quite variable and they may present solely with neurological features sans hepatic symptoms. Such neurological manifestations usually follow subacute to chronic course. Acute onset anarthria as the heralding and predominant presenting feature has been rarely reported in the literature. We reported a case of a 12-year-old girl who presented with acute onset anarthria and dystonia of 1-month duration. On further evaluation, a diagnosis of WD was made. The patient showed partial improvement after she was started on copper chelating agents and anticholinergics.
Kilincaslan, Huseyin; Gedik, Ahmet Hakan; Bilici, Mustafa; Cakir, Secil
Torsion of the vermiform appendix is a rarely observed acute abdominal emergency. The clinical manifestations are similar to acute appendicitis. It should be included in the differential diagnosis if a patient presents with intermittent abdominal pain and an acute abdominal emergency. Here, we describe a 4-year-old male patient with a mass located in the right lower abdominal quadrant, whose clinical findings were consistent with an acute abdomen. The gangrenous appendix was found in the pelvic cavity and its stump was twisted clockwise. A 1.5-cm fecalith was detected in the appendix lumen and appendectomy was performed. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.
Krisht, Khaled M; Palmer, Cheryl A; Couldwell, William T
The authors describe a rare case of combined pituitary chronic lymphocytic leukemia (CLL) and prolactinoma in a 77-year-old man presenting with apoplexy. This case highlights the importance of evaluating the pituitary gland in patients with CLL who present with clinical manifestations of apoplexy as well as the need to carefully evaluate pathological specimens from the gland for the presence of lymphocytic cells in those patients. This is the first reported case of a combined CLL-prolactinoma pituitary lesion presenting with apoplexy.
Shkarubo, A N; Shishkina, L V; Tailakov, Sh T; Dorosh, K V; Khromov, A P
Authors show an example of a successful treatment of a patient with a giant intracranial hemangiopericytoma. Hemangiopericytoma are aggressive tumors with a high rate of recurrence and metastasis. Despite the malignant nature of these tumors often reach a large size with minor clinical signs. Surgical removal of the tumor is still the primary method of treatment.
Demographics and presenting clinical features of childhood systemic lupus ... and characteristics of children with systemic lupus erythematosus (SLE). ... Rashes were found to be the commonest clinical feature present at the time of diagnosis, ...
Full Text Available Acute pulmonary thromboembolism (PTE is a life threatening condition which requires early diagnosis and management. Electrocardiogram (ECG is helpful for suspecting the disease. The various ECG changes are sinus tachycardia, P pulmonale, Right bundle branch block (RBBB -incomplete or complete, axis shift, S1Q3T3, T wave inversion, and ST-segment depression in leads V1-4, aVF, and Lead III, supra ventricular tachycardia, low voltage QRS complex in limb leads. In addition, sinus bradycardia and complete heart block (CHB can be seen. CHB has been reported as an exceptionally rare manifestation of acute PTE. Here, we are reporting a case of 66 year old male presented with CHB with acute pulmonary thromboembolism, who reverted to sinus rhythm after thrombolysis.
Mozaffarian, Kamran; Farahani, Mohammad Javad; Vosoughi, Amir Reza
Hereditary multiple exostoses, an autosomal dominant condition, is a common benign tumor which is characterized by the development of multiple osteochondromas. Bilateral dorsal and ventral involvement of scapulae is extremely rare without any reported case in the literature. An 18-year-old girl was referred because of bilateral prominent scapulae and left-sided pain on shoulder girdle motion especially at more than 90° abduction and forward flexion. Radiograph evaluation showed multiple exostoses on ventral and dorsal surfaces of body of both scapulae; hence simple excision of the lesion was impossible. The patient was symptom-free about 18 months after partial scapulectomy of left side. Partial scapulectomy seems to be an effective treatment for the sandwiched scapula between dorsal and ventral benign tumors.
Full Text Available Primitive Neuroectodermal Tumor of the kidney is a rare entity. Very few cases of primary renal PNET have been reported to date. Most literature about rPNET is isolated case reports. We report a case of rPNET in a 39-year-old male with a pre-operative diagnosis of renal cell carcinoma with renal vein thrombosis. The patient underwent radical nephrectomy with thrombolectomy, and histopathological examination revealed a highly aggressive tumor composed of monotonous sheets of round cells. Tumor cells were positive for CD 99 and FLI-1, hence confirming the diagnosis of Primitive Neuroectodermal Tumor. Post-surgery, patient was given VAC/IE-based adjuvant chemotherapy. In view of highly aggressive nature of this tumor, prompt diagnosis and imparting effective chemotherapy regimen to the patient is required, and it is important to differentiate PNET from other small round-cell tumors because of different therapeutic approach.
Chaudhari, Soham; Mobini, Narciss
Linear immunoglobulin A bullous dermatosis is a rare autoimmune mucocutaneous disorder caused by immunoglobulin A autoantibodies produced against several different antigens in the basement membrane zone. Clinically, it is characterized by tense vesicles or bullae, which on histopathological exam demonstrate subepidermal blister with a predominantly neutrophilic infiltrate. A smooth, linear pattern of immunoglobulin A deposition in the basement membrane zone on direct immunofluorescence is considered the gold standard for establishing a diagnosis. Treatment consists of dapsone or sulfapyridine. The authors report a 60-year-old woman who presented with pruritic erythematous patches and plaques on her trunk, back, and legs without blisters, who was diagnosed with eczema for several months with no response to prior treatments. A biopsy was performed, which was consistent with linear immunoglobulin A bullous dermatosis and later confirmed by direct immunofluorescence studies. The authors present this case to increase awareness of this rare disease, which could manifest in a nonclassical, nonblistering fashion.
Marenco, Marco; Macchi, Ilaria; Macchi, Iacopo; Galassi, Emilio; Massaro-Giordano, Mina; Lambiase, Alessandro
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. PMID:28280295
Manzoor A Bhat
Full Text Available Sheehan′s syndrome occurs as a result of ischemic pituitary necrosis secondary to severe postpartum bleeding. It is one of the most common causes of hypopituitarism, characterized by variable clinical presentation. Acute kidney injury occurs rarely in Sheehan′s syndrome and most of the cases have been found to be precipitated by rhabdomyolysis. We here present a case of Sheehan′s syndrome with acute kidney injury where theprecipitating cause was chronic hypocortisolemia. We believe this is the first reported case of Sheehan′s syndrome in which acute kidney injury was precipitated by adrenal insufficiency.
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.
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
We report a case of a 32-year-old woman with episodic right lower quadrant abdominal pain. With the diagnosis of either acute appendicitis or tuba-ovarian abscess, she was treated with antibiotics, which successfully relieved the pain and the inflammatory findings. She repeated the clinical condition a few times and antibiotics worked each time. In a year, her subjective symptoms became milder, however, a giant pelvic cyst appeared. She had an exploratory laparotomy to confirm this diagnosis. Histopathological studies revealed herniated appendiceal mucosa through the muscular layer associated with chronic inflammation and marked fibrosis. Gynecological disorders such as endometriosis or lutein cyst rupture was denied. These findings represent appendiceal diverticulitis. We discuss the clinical features of the disease and its relation with the pelvic pseudocyst.
Full Text Available Abdominal tuberculosis is defined as infection of the peritoneum, hollow or solid abdominal organs with Mycobacterium tuberculi . TB can affect any part of the gastrointestinal (GI tract including anus, peritoneum and hepatobiliary system. The peritoneum and the ileocaecal region are the most likely sites of infection. The clinical manifestations of abdominal tuberculosis are nonspecific and mimic various GI disorders and cause delay in diagnosis and management. This pa thology has several complications, including free intestinal perforation.
Chandra, Namita; Kumar, Sanjay; Raj, Vaibhav; Vishwakarma, Pawan Kumar; Sinha, Sheela; Saha, Ram Prakash
BACKGROUND Jarcho-Levin syndrome, also known as spondylothoracic dysplasia and spondylocostal dysplasia, is characterized by varieties of vertebrae and rib anomalies. Jarcho-Levin syndrome is a clinical-radiological diagnosis with clinical evidence of short neck, short trunk, normal-sized limbs, or increased arm span, and vertebral and rib defects on the skeletal survey. CASE REPORT About 400 cases have been reported in world literature and 18 in our Indian literature. We report the case of a one-day-old female baby with a short trunk, short neck, low hairline, apparently long limbs, protuberant abdomen, mild midfacial dysmorphism, low-set ears, and a high-arched palate. There was one cystic swelling over the lateral side of the left hypochondrium sized about 3×3 centimeters, nonpusatile; the skin over the swelling was normal color and free. Radiological findings showed crowding of ribs with pebble-like appearance of the vertebrae and diastematomyelia of the spinal cord (type 2). We report here the first case of Jarcho-Levin syndrome with splenic herniation. To the best of our knowledge there have been no case reports of Jarcho-Levin syndrome with splenic herniation in the literature. CONCLUSIONS Jarcho-Levin syndrome can be easily diagnosed by clinical-radiological findings in newborns, with short trunk having a high index of suspicion. Prenatal diagnosis using level 2 ultrasonography can make it easier to manage the baby after delivery. Management should be from the basic neonatal care to prevention and immediate treatment of recurrent respiratory infections. Spinal surgical intervention to improve the thoracic volume and hence decrease the pulmonary restriction has been tried.
Sachin R Agrawal
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.
D’Agnolo, Hedwig MA; Kievit, Wietske; Andrade, Raul J; Karlsen, Tom Hemming; Wedemeyer, Heiner
The exposure of clinicians to patients with rare gastrointestinal diseases is limited. This hurts clinical studies, which impedes accumulation of scientific knowledge on the natural disease course, treatment outcomes and prognosis in these patients. An excellent method to detect patterns on an aggregate level that would not be possible to discover in individual cases, is a registry study. This paper aims to describe a template to create a successful international registry for rare diseases. We focus mainly on rare hepatic diseases, but lessons from this paper serve other fields in medicine, as well. PMID:27403298
D'Agnolo, Hedwig Ma; Kievit, Wietske; Andrade, Raul J; Karlsen, Tom Hemming; Wedemeyer, Heiner; Drenth, Joost Ph
The exposure of clinicians to patients with rare gastrointestinal diseases is limited. This hurts clinical studies, which impedes accumulation of scientific knowledge on the natural disease course, treatment outcomes and prognosis in these patients. An excellent method to detect patterns on an aggregate level that would not be possible to discover in individual cases, is a registry study. This paper aims to describe a template to create a successful international registry for rare diseases. We focus mainly on rare hepatic diseases, but lessons from this paper serve other fields in medicine, as well.
Naveen, Kikkeri Narayanasetty; Athanikar, Sharatchandra Bhimrao; Hegde, Spandana Prakash; Athanikar, Vidisha Sharatchandra
Type 2 lepra reaction or erythema nodosum leprosum (ENL) is an immune complex syndrome that occurs mostly in lepromatous leprosy and sometimes in borderline lepromatous leprosy patients. We present an untreated case of lepromatous leprosy, who presented with type 2 lepra reaction and livedo reticularis. Livedo reticularis, though seen in lucio phenomenon, is not a part of type 2 lepra reaction. The case is being reported for its rarity.
Geetika Bhatt; Sandhu, Varrinder S.; Mitchell, Charlene K
Hepatitis A has a variety of associated extrahepatic manifestations that clinicians should be aware of for early diagnosis and treatment. We report a unique case of hepatitis A presenting with multiple extrahepatic manifestations not previously described in a single patient. A 34-year-old male presented with sudden onset of left sided facial pain, swelling, and skin rash, with diffuse body pains and muscle weakness, and was found to be positive for hepatitis A immunoglobulin M (IgM). He was i...
Full Text Available A newborn infant with multiple congenital oral swellings can be a striking sight for both parents and healthcare professionals involved in neonatal care. Neumann first described congenital epulis of a newborn in 1871, hence it is also known as Neumann′s tumor. Congenital epulis occurs at birth and has a predilection for females. Congenital epulis clinically appears as a pedunculated protuberant mass. In cases with large lesions, mechanical, oral, and nasal obstruction can impair fetal deglutition or interfering with feeding and / or respiratory impairment. We are reporting a case of a six-day-old, 3.5 kg newborn female, who had reported to our institution with multiple congenital oral swellings arising from the maxilla and mandible.
Hernando Raphael Alvis- Miranda
Full Text Available Bee stings are commonly encountered worldwide. Various manifestations after bee sting have been described including local reactions which are common, systemic responses such as anaphylaxis, diffuse intravascular coagulation and hemolysis. We report a case of a 74-year-old man who developed neurologic deficit 5 hours after bee stings, which was confirmed to be left frontal infarction on brain CT-scan. The case does not follow the reported pattern of hypovolemic or anaphylactic shock, hemolysis and/or rhabdomyolysis, despite the potentially lethal amount of venom injected. Diverse mechanisms have been proposed to give an explanation to all the clinical manifestation of both toxic and allergic reactions secondary to bee stings. Currently, the most accepted one state that victims can develop severe syndrome characterized by the release of a large amount of cytokines.
Parvaiz Anwar Rather
Full Text Available Lichen myxoedematosus (LM, a form of primary cutaneous mucinosis, may present either as localized less severe form called papular mucinosis or diffuse more severe form called scleromyxoedema. The diffuse form is almost always associated with monoclonal gammopathy, whereas localized form is not. We report an atypical case of localized form of LM associated with multiple myeloma in a 66-year-old male, who presented with asymptomatic waxy papular eruption on extremities, which on histopathological examination confirmed the diagnosis of cutaneous mucinosis. After initially being put on steroids and hydroxychloroquine with minimal improvement, patient subsequently presented with encephalopathy and on evaluation revealed hypernatremia, hypercalcemia, hypergammaglobulinemia, reversal of albumin-globulin (A/G ratio, azotemia, and lytic lesions in skull X-ray. Bone marrow aspiration and biopsy confirmed multiple myeloma. Patient was successfully treated with standard treatment regimen for multiple myeloma with bortezumib and dexamethasone and his skin lesions subsided completely.
Full Text Available Morgagni hernia is an unusual congenital herniation of abdominal content through the triangular parasternal gaps of the anterior diaphragm. They are commonly asymptomatic and right-sided. We present a case of a bilateral Morgagni hernia resulting in delayed growth in a 10-month-old boy. The presentation was unique due to its bilateral nature and its symptomatic compression of the mediastinum. Diagnosis was made by 3D reconstructed CT angiogram. The patient underwent medical optimization until he was safely able to tolerate laparoscopic surgical repair of his hernia. Upon laparoscopy, the CT findings were confirmed and the hernia was repaired.
Leshen, Michael; Richardson, Randy
Morgagni hernia is an unusual congenital herniation of abdominal content through the triangular parasternal gaps of the anterior diaphragm. They are commonly asymptomatic and right-sided. We present a case of a bilateral Morgagni hernia resulting in delayed growth in a 10-month-old boy. The presentation was unique due to its bilateral nature and its symptomatic compression of the mediastinum. Diagnosis was made by 3D reconstructed CT angiogram. The patient underwent medical optimization until he was safely able to tolerate laparoscopic surgical repair of his hernia. Upon laparoscopy, the CT findings were confirmed and the hernia was repaired.
Full Text Available True Popliteal artery aneurysm is the most common of all the peripheral artery aneurysms. We present a case of proximal popliteal artery aneurysm involvement both lower limb presented with gangrene in one lower limb and incapacitating claudication pain on the other lower limb. We have successfully repaired both sides aneurysm in the same sitting with Poly Tetra Fluro Ethylene (PTFE graft, as the patient also had multiple venous perforators’ involvement on both sides, which left us only with synthetic graft repair option rather than venous graft repair.
Kuppa; Yerukala; Dema; Sujith; Venkateswar Reddy
Septic Arthritis also known as infectious arthritis, can be bacterial or fungal arthritis. The condition is an inflammation of a joint that is caused by an infection. Typically, Septic Arthritis affects one large joint in the body such as knee or hip. Generally, Septic Arthritis is present with complete absorption of the head of the ...
Sangavi Santhan, Jehangir HM, Mugunthan
Full Text Available We report a 12 year old girl with a history of migraine presenting with recurrent episodes of hemiparesis preceded by headache, which fulfilled the diagnostic criteria for sporadic hemiplegic migraine in ICHD – 2 [international classification of headache disorders 2].
[5,6] Half of the patients present with symptoms such as low back or rectal pain, pain during ... tomography [CT] or magnetic resonance imaging [MRI]) play such a crucial role in ... lytic/sclerotic lesions were seen in the lumbosacral spine. CECT.
Full Text Available In 1952 Goldenher described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar dermoid and described the case as Goldenger Syndrome. Exact etiology of this disease is not known. Here we present a case of Goldenher syndrome in a 5 days old newborn who presented with all the classical features except ocular involvement. Gorlin et.al named this syndrome as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies .2 Exact etiology of this disease is not known. Most of the cases are sporadic, though autosomal recessive, autosomal dominant and multifactorial inheritance has also been suggested.2.Chromosomal analysis shows no abnormalities.3 In this report we presented a case of Goldenger Syndrome in a 5 days old newborn who presented with all the classical features except occular involvement. Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-4, 59-62 DOI: http://dx.doi.org/10.3126/jcmsn.v9i4.10239
Full Text Available We report a case of a 1 month female presented with a 4 cm irreducible left inguinal mass, Birth history was unremarkable. Ultrasonography of the left inguinal region showed the ovary with peripheral follicles and the uterus that passed through the left inguinal canal. There were no abdominal abnormalities.
Mareddy, Aswani Srinivas; Rangaswamy, Dharshan; Vankalakunti, Mahesha; Attur, Ravindra Prabhu; Nagaraju, Shankar Prasad; Koti, Neeraja
Hepatitis B virus (HBV) infection presenting as crescentic glomerulonephritis in the absence of cryoglobulinemia is an extremely rare phenomenon. We report a case of a 44-year-old male with HBV infection, who underwent kidney biopsy for rapidly progressive renal failure and nephrotic range proteinuria. Histopathological evaluation of the kidney biopsy was consistent with immune complex mediated crescentic membranoproliferative glomerulonephritis (MPGN). The patient achieved complete renal and virological remission with steroids, plasmapheresis and antiviral therapy. This case report summarises the importance of early initiation of immunosuppression and plasmapheresis under antiviral coverage for improved clinical outcomes.
Aswani Srinivas Mareddy
Full Text Available Hepatitis B virus (HBV infection presenting as crescentic glomerulonephritis in the absence of cryoglobulinemia is an extremely rare phenomenon. We report a case of a 44-year-old male with HBV infection, who underwent kidney biopsy for rapidly progressive renal failure and nephrotic range proteinuria. Histopathological evaluation of the kidney biopsy was consistent with immune complex mediated crescentic membranoproliferative glomerulonephritis (MPGN. The patient achieved complete renal and virological remission with steroids, plasmapheresis and antiviral therapy. This case report summarises the importance of early initiation of immunosuppression and plasmapheresis under antiviral coverage for improved clinical outcomes.
Hussain, Shabbir; Solanki, Fanindra Singh; Sharma, Deepti B; Sharma, Dhananjay
We report herein a clinical case of a patient with femur fracture due to metastasis from penile squamous cell carcinoma. A young man, who was treated for carcinoma penis, presented with pathological fracture of femur and lung metastasis from metastatic carcinoma penis after 18 months. Long bone metastasis from penile cancer is extremely rare, to the best of our knowledge; this is the first report of a patient with penile cancer spread to the femur from primary squamous cell carcinoma of the penis.
Tamer Ahmed EL-Sobky
Full Text Available Primary hyperparathyroidism (PHPT is rare in children and adolescents, but has greater morbidity in this age group. Most of these patients show predominantly skeletal pathology and to a lesser extent renal involvement. Osteopenia, osteoporosis and subperiosteal resorption are frequently encountered radiographic skeletal signs. This study describes the orthopedic manifestations of PHPT in a child. PHPT in this child exhibited a late presentation with significant clinical morbidity and extensive radiographic manifestations. The characteristic radiographic pattern of PHPT in childhood is an important contributor to the diagnosis. The radioclinical and biochemical correlations augment diagnostic accuracy and delineate extent of skeletal pathology.
Jaffe, Stephen L; Glabus, Michael F; Kelley, Roger E; Minagar, Alireza
Cortical speech disorders rarely occur in multiple sclerosis (MS). We report a patient with relapsing-remitting MS, who presented with acute verbal dyspraxia. Magnetic resonance imaging (MRI) demonstrated an acute T2/Flair hyperintense, primarily white matter lesion underlying the middle third of the inferior frontal gyrus. The verbal dyspraxia cleared beginning 48 hours after the initiation of iv dexamethasone. Follow-up MRI demonstrated qualitative and quantitative diminution of the hyperintensity. This is the first report of a clinically definite MS patient with acute verbal dyspraxia. Moreover, there was a suggestive localization of verbal praxis to Brodmann areas 44/45.
Full Text Available Patients with HIV are prone to a number of unusual infectious and malignant conditions, typically resulting from declining immune function. However, there are also a few of reports of HIV associated conditions potentially created by viral release of interleukin-6 (IL-6. Herein, we present a case of HIV IL-6-related systemic inflammatory syndrome, a Kaposi sarcoma (KS-associated syndrome in the absence of multicentric Castleman disease (MCD.
Full Text Available Septic Arthritis also known as infectious arthritis, can be bacterial or fungal arthritis. The condition is an inflammation of a joint that is caused by an infection. Typically, Septic Arthritis affects one large joint in the body such as knee or hip. Generally, Septic Arthritis is present with complete absorption of the head of the Femur in infants. A case was encountered in which the complete absorption of the femoral head was seen in adults also
Elroy Patrick Weledji
Full Text Available We present a case of an unsual type of obstructed indirect inguinal hernia with impending strangulation. The operative findings revealed a sliding Maydl’s hernia with an ischemic inner ileal loop and an adherent inflamed appendix. This case highlights the importance of intraoperative examination of the intra-abdominal bowel loops proximal to the hernia sac of an incarcerated, obstructed, or strangulated hernia.
Langerhans cell histiocytosis of atlantoaxial joint in a middle-aged man presenting with deafness as first symptom and soft-tissue mass at neck showing excellent response to radiotherapy alone: Report of an extremely rare and unusual clinical condition and review of literature
Mondal, Dodul; Julka, P. K.; Jana, Manisha; Walia, Ritika; Chaudhuri, Tamojit
Langerhans cell histiocytosis (LCH) is a disorder of clonal proliferation of dendritic cell mainly occurring in children. Spine involvement is rare. This usually presents with pain and torticollis when neck is involved. Histopathology with immunohistochemistry is confirmatory. Local curative therapy with excision or curettage is used for localized disease. Radiotherapy is usually reserved for selected cases. Systemic chemotherapy is the treatment of choice for widespread systemic disease. In this article, we present an unusual presentation of atlantoaxial LCH with mastoid involvement resulting in hearing loss as the first symptom and quadruparesis in a middle aged male patient, which was also associated with soft-tissue mass at the nape of the neck and deafness. The patient was treated with radical radiotherapy, which provided excellent response to the disease. Involvement of atlantoaxial joint and temporal bone associated with soft-tissue mass neck and deafness in a middle-aged man is an extremely rare clinical situation. PMID:25506166
Burton, Kirsteen R; Wang, Xi; Dhanoa, Deljit
Spinal epidural abscess (SEA) is a rare clinical entity. It is less common when the entire epidural space is involved, known as a holocord or panspinal SEA, and it is even less common in a pregnant patient. We report a case of methicillin-resistant Staphylococcus aureus holocord SEA in a 30-year-old female at approximately 22 weeks' gestational age who presented with lumbar pain and pelvic pressure and the urge to bear down. Magnetic resonance imaging of the spine demonstrated extensive SEA and meningitis from the foramen magnum to the lumbar spine that was treated both medically and surgically. The incidence of, clinical presentation of, and risk factors for developing SEA are discussed. If untreated, expanding SEAs produce sensory symptoms and signs, motor dysfunction, and, eventually, paralysis and death. The medical and surgical management of SEA is also discussed. SEA can have an insidious and atypical presentation despite extensive involvement of the epidural space. Therefore, the diagnosis of SEA should always be considered in patients who present to the emergency department with back pain.
Hung, T-L; Wang, W-M; Chiang, C-P
Gout is a systemic disorder characterized by hyperuricemia and recurrent arthritis, most involvement of ankles, midfoot joint and first metatarsophalangeal joint, with monosodium urate crystals deposition in synovial fluid and other tissues. We present a case of 53-year-old male, who had several nontender, white-yellow papules and plaques over his elbows, knees and arms with chalk-like substances and crust on inflammatory base wax and wane in the past 2 years. Upon histopathology examination of the skin lesions, it reported as intradermal urate tophi and miliarial gout was diagnosed. This case highlights the importance of considering unusual cutaneous tophi in the differential diagnosis of deposition disorders.
Full Text Available A 12yrs male child presented in the emergency department of VSS Medical College Burla with complains of acute pain over left testis for 3days, associated with vomiting, there was no h/o fever, trauma or lower urinary tract symptoms. Ultrasonography of scrotum revealed features of testicular torsion with absent vascularity. He was managed with urgent scrotal exploration and found to have torsion of cord and gangrene of testis. Orchidectomy was done for testis with orchiopexy of the contralateral testis.
Full Text Available Central giant cell granuloma (CGCG is an intra-osseous lesion consisting of cellular fibrosis tissue containing multiple foci of hemorrhage, multinucleated giant cells and trabecules of woven bone. This lesion accounts for less than 7% of all benign jaw tumours. Jaffe considered it as a locally reparative reaction of bone, which can be possibly due to either an inflammatory response, hemorrhage or local trauma. Females are affected more frequently than males. It occurs over a wide age range.It has been reported that this lesion is diagnosed during the first two decades of life in approximately 48% of cases, and 60% of cases are evident before the age of 30. It is considerably more common in the mandible than in the maxilla. Most lesions occur in the molar and premolar area, some of these extending up to the ascending ramus. The presence of giant cell granuloma in the mandibular body area, the entire ramus, condyle and coronoid represents a therapeutic challenge for the oral and maxillofacial surgeons. The aim of this report is to describe an unusual presentation of central giant cell granuloma involving the mandibular body, ramus, condylar and coronoid processes, and to discuss the differentiated diagnosis, the radiographic presentation and the management of this lesion.
Choi, Do Il; Chi, Ho Seok; Lee, Sang Ho; Kwon, Youngmee; Park, Seog Yun; Sim, Sung Hoon; Park, In Hae; Lee, Keun Seok
Metastasis of a phyllodes tumor to the stomach is an extremely rare condition with important clinical implications. A 44-year-old woman was initially diagnosed with a phyllodes tumor in her right breast in 2008, and subsequently presented to an out-patient clinic with dizziness on December 16, 2013. We found that she had severe anemia (hemoglobin levels: 6.7 g/dL), and we quickly performed esophagogastroduodenoscopy to identify the cause. This procedure revealed large ulcerofungating masses with active bleeding in the stomach. Histopathological examination revealed that the masses were consistent with phyllodes tumor metastases. In patients with a metastatic phyllodes tumor presenting as anemia, gastric metastasis should be considered as one of the differential diagnoses because overlooking the possibility might have dire consequences if cytotoxic chemotherapy were administered.
Full Text Available Placental site trophoblastic tumour (PSTT is the least common form of gestational trophoblastic neoplasia accounting for only 1-2% of trophoblastic tumors. Approximately 200 cases are reported in English literature. PSTT presenting as a cervical growth is even less common. Differentiation of PSTT from other types of GTN, non-neoplastic gestational trophoblastic disease and non-trophoblastic tumors is important clinically due to differences in their therapeutic approaches.Appreciation of the morphologic features and immunophenotype allows their accurate diagnosis.Although most of the cases of PSTT behave in a benign fashion,the clinical behavior of PSTT can sometimes be variable and several prognostic factors can help to predict the biological behavior of this condition. We report a rare case of placental site trophoblastic tumor, presenting as a cervical mass, in a 38 year old female, and review the literature. [J Interdiscipl Histopathol 2013; 1(5.000: 286-289
Balan Louis Gaspar
Full Text Available Intraorbital sarcoidosis presenting externally as a solitary eyelid mass has been described in the literature as isolated case reports. We describe a rare case of asymptomatic sarcoidosis with orbital mass as the presenting feature in a young woman. The lesion was excised with the clinical possibility of a thrombosed varix. On histology, the lesion was characterized by numerous nonnecrotizing epithelioid cell granulomas with several multinucleated giant cells containing abundant asteroid bodies and oxalate crystals. No tubercular bacilli were detected. A diagnosis of sarcoidosis was rendered and on further clinical work-up, she was detected to have hilar lymphadenopathy. Sarcoidosis should be considered in the differential diagnosis of orbital mass as it could be the initial manifestation of the disease process.
Amal F Radwan
Full Text Available A 37-year-old hypertensive housewife presented with a sudden onset of left-sided hemiplegia, hemianaesthesia, dysarthria and urinary incontinence. The condition was preceded by recurrent attacks of motor neurological deficits over a 3-year duration. She reported a history of a fall from a height at the age of 10, which was followed by a hearing deficit and a history of two caesarean sections after eclampsia. The blood pressure was 170/100 mmHg. Laboratory investigations revealed hyperglycaemia (fasting glucose 306 mg/dl and normal kidney function tests. The computed tomography scans revealed old multiple bilateral cerebral infarcts with recent intracranial haemorrhage in the right parietal region. The inflammatory markers (ESR and CRP and immune profile (ANA, anti-ds DNA and ANCA were found to be normal. Cerebral angiography revealed a complete occlusion of the intracranial parts of both internal carotid arteries at their supraclinoid segments along with the proximal parts of the anterior cerebral artery and middle cerebral artery, with collaterals from the posterior circulation. Consequently, the diagnosis of moyamoya disease with the collaterals was confirmed. Antihypertensive medications and insulin were administered. Cerebral dehydration measures were undertaken with partial improvement. A superficial temporal artery-middle cerebral artery bypass operation was performed with some postoperative improvement. One month later, she suffered a new stroke with severe impairment of the level of consciousness; the computed tomography scans revealed a large recent cerebral infarct, her condition deteriorated rapidly and she died shortly thereafter.
Ali Raghibi; Wan Hazabbah Wan Hitam; Raja Azmi Mohd Noor; Zunaina Embong
A 58-year-old Malay lady, presented with gradual loss of vision in the right eye for 1 month duration. It was associated with right sided headache, nausea and vomiting. Patient had a history of contact with tuberculosis patient. On examination, visual acuity in right eye was no perception of light with presence of relative afferent pupillary defect. The left eye visual acuity was 6.0/7.5. There was a total restriction of extraocular movement in all direction (frozen eye) in the right eye. Both anterior segments were unremarkable. Fundoscopy in both eyes showed normal appearance of optic disc and retinal vessels. Other cranial nerves were normal. Lungs were clear and had no lymphadenopathy. Chest radiograph was normal. Erythrocyte sedimentation rate was elevated by 35 mm/h and Mantoux test was positive (20 mm). MRI of brain and orbit demonstrated thickening and irregularity of the right optic nerve on axial view with doughnut sign on coronal view. Patient was diagnosed to have optic perineuritis secondary to tuberculosis. She was treated with anti-TB drugs. Systemic corticosteroid was commenced after 2 weeks. The visual acuity was improved to hand motion after 1 month with almost complete resolution of extraocular movement.
Hasan, Roumina; Kumar, Sandeep; Rao, Anuradha ck; Kadavigere, Rajagopal
A 55-year-old woman presented with a mucopurulent sinusal discharge from the right supragluteal region, with symptoms over the previous five months. This abscess began as a slowly swelling growth, which eventually turned into a discharging sinus, and she was diagnosed with a gluteal abscess. The patient underwent incisional drainage, and intra-operatively, the sinus tract could be seen extending to the retroperitoneum. A subsequent CT scan and an MRI of the abdomen revealed a large heterogeneous retroperitoneal cystic mass on the right side of midline, extending inferiorly into the anterior thigh along the iliopsoas. Superiorly, a tubular projection extended from the lesion, indenting the ileocaecal junction, while a fluid filled cutaneous fistulous tract was seen, extending to the right flank. A diagnosis of pseudomyxoma retroperitonei, likely of retrocaecal appendicular origin, was proposed. An explorative laparotomy with an appendectomy, and the evacuation of the retroperitoneal collection were completed. The subsequent histopathology confirmed the diagnosis of appendicular mucinous cystadenoma, with pseudomyxoma retroperitonei. PMID:27660549
Zawar, Vijay; Godse, Kiran
A 34-year-old nonpregnant woman noted a mildly pruritic skin lesion on her right breast for 1 week following an episode of coryza, malaise, and low-grade fever of 3 days' duration. The latter symptoms subsided without any treatment. Ketoconazole cream prescribed by her family physician did not resolve the breast eruption after 1 week, so was stopped. A week later, multiple skin lesions erupted suddenly on her right chest wall starting near the herald patch in midaxillary line and spread distally until the midback. She then consulted the authors. She denied a history of abrasion or trauma to the affected areas. Travel, contact, sexual, and drug histories were unremarkable. She categorically denied past or family history of eczema, psoriasis, contact dermatitis, and drug eruptions. On examination, the initial lesion was an annular and well-demarcated erythematous plaque on her right breast in the upper outer quadrant. Multiple small oval scaly plaques were noted, extending distally along the ribs to the midline on her back, not crossing the midline, predominantly over the distribution of right T4 dermatome (Figure 1). Peripheral collarette scaling was noted (Figure 2). A few scattered small lesions were also noted in the vicinity of this dermatome. Three isolated small plaques were also present on the trunk, one in the supramammary area and the other two on the abdomen and back, respectively. Palmoplantar and mucosal surfaces were uninvolved. The rest of the skin and systemic examination revealed no abnormalities. Complete blood cell counts, fasting glucose, and urinalysis were normal. Venereal Disease Research Laboratory (VDRL) results were nonreactive and human immunodeficiency virus (HIV) antibodies were negative. Repeat testing ofVDRL in serial dilutions and HIV antibodies after 3 months were also nonreactive and negative, respectively. Scrapings from the initial large lesion and subsequent smaller eruptions did not show any evidence of fungal infection on
Franco-Avilés, Luis; Arce-Guridi, Héctor Tonalli; Mercado, Ulises
Introducción: el síndrome de Bouveret se caracteriza por una obstrucción de la salida gástrica, causado por un cálculo en el bulbo duodenal, después de pasar a través de una fístula colecistoduodenal. Caso clínico: reportamos el caso clínico de una mujer de 46 años de edad, quien se presentó con dolor epigástrico intermitente, nausea, vómito y pérdida de peso de 2 meses de duración. No tenía fiebre, deshidratación o ictericia. La paciente admitió uso de alcohol y abuso de metanfetamina. La amilasa, enzimas, electrolitos y creatinina estuvieron dentro de los límites normales. Siete meses antes había ingresado a Urgencias por colecistitis aguda. El ultrasonido fue reportado como colelitiasis sin dilatación de la vía biliar intra/extrahepática. Las radiografías simples de abdomen no mostraron hallazgos relevantes. Recibió tratamiento conservador y fue egresada. Se programó para cirugía laparoscópica. Durante el procedimiento se encontró un plastrón subhepático con adherencias firmes, por lo que se efectuó cirugía abierta. La vesícula se encontró adherida al bulbo duodenal y un cálculo impactado en el duodeno. Se removió el calculo por enterotomía. Habia leve distension gastrica. Debido a la inflamacion regional, el cirujano decidio efectuar Bilroth 1; no hubo complicaciones. Conclusiones: las manifestaciones clínicas del síndrome de Bouveret son inespecíficas. El diagnóstico preoperatorio es un desafío para el clínico por la rareza del padecimiento. El tratamiento debe individualizarse.
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.
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
Edwards, Paul C; Graham, Jasmine; Oling, Rebecca; Frantz, Kate E
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.
Full Text Available Rare neurodegenerative diseases are fatal and no therapy is available to cure or slow down the progression of disease. We report possibly weaknesses in the management of clinical studies in these diseases, ranging from poor preclinical studies, difficulties in the recruitment of patients, delay in the onset of treatment because of lack in early disease-specific biomarkers, and suboptimal design of Phase II clinical trials. The adoption of innovative statistical approaches in early Phase II trials might improve the screening of drugs in rare neurodegenerative disorders, but this implicates efforts from clinical researchers, statisticians, and regulatory people to the development of new strategies that should maintain rigorous scientific integrity together with a more ethical approach to human experimentations.
Full Text Available Malignant peripheral nerve sheath tumor (MPNST is a rare tumor that accounts for 5% of all thoracic neoplasm usually located in the posterior mediastinum and is generally associated with a poor outcome. We present a case of MPNST of the anterior mediastinum presenting in a rare location leading to diagnostic dilemmas and treated primarily by surgical resection.
Shin, Jeong Hun; Kim, Seok Hwan; Park, Jinkyu; Lim, Young-Hyo; Park, Hwan-Cheol; Choi, Sung Il; Shin, Jinho; Kim, Kyung-Soo; Kim, Soon-Gil; Hong, Mun K; Lee, Jae Ung
Cardiogenic unilateral pulmonary edema (UPE) is a rare clinical entity that is often misdiagnosed at first. Most cases of cardiogenic UPE occur in the right upper lobe and are caused by severe mitral regurgitation (MR). We present an unusual case of right-sided UPE in a patient with cardiogenic shock due to acute myocardial infarction (AMI) without severe MR. The patient was successfully treated by percutaneous coronary intervention and medical therapy for heart failure. Follow-up chest Radiography showed complete resolution of the UPE. This case reminds us that AMI can present as UPE even in patients without severe MR or any preexisting pulmonary disease affecting the vasculature or parenchyma of the lung.
Van Biervliet, Stephanie; Küry, Sébastien; De Bruyne, Ruth; Vanakker, Olivier M; Schmitt, Sébastien; Vande Velde, Saskia; Blouin, Eric; Bézieau, Stéphane
Wilson disease is a rare autosomal recessive disorder of the copper metabolism caused by homozygous or compound heterozygous mutations in the ATP-ase Cu(2+) transporting polypeptide (ATP7B) gene. The copper accumulation in different organs leads to the suspicion of Wilson disease. We describe a child with clinical zinc deficiency as presenting symptom of Wilson disease, which was confirmed by 2 mutations within the ATP7B gene and an increased copper excretion.
Full Text Available M Kernt, A KampikDepartment of Ophthalmology, Ludwig Maximilian University, Munich, GermanyAbstract: Endophthalmitis is a rare but sight-threatening complication that can occur after ocular surgery or trauma or as a consequence of systemic infection. To optimize visual outcome, early diagnosis and treatment are essential. Over recent decades, advances in hygienic standards, improved microbiologic and surgical techniques, development of powerful antimicrobial drugs, and the introduction of intravitreal antibiotic therapy have led to a decreased incidence and improved management of endophthalmitis. However, endophthalmitis still represents a serious clinical problem. This review focuses on current principles and techniques for evaluation and treatment of endophthalmitis. In addition, it addresses recent developments regarding antimicrobial treatment and prophylaxis of infectious endophthalmitis.Keywords: endophthalmitis, intravitreal, antibiotics, victrectomy, moxifloxacin, voriconazole, caspofungin
Dinser, R; Frerix, M; Müller-Ladner, U
Since the beginning of the biologics era tuberculosis is known to be a potential life-threatening complication during treatment of patients with rheumatic diseases. National and international societies have developed recommendations for tuberculosis screening and treatment of patients at risk for development of tuberculosis. Owing to the relative rareness of overt tuberculosis in patients with rheumatic diseases, the experience of individual rheumatologists with this complication is limited. Therefore, we have analyzed the tuberculosis cases from 2006-2011 in our rheumatology referral center (treating more than 1,500 inpatient and 8,000 outpatient cases every year) to obtain a real-life picture more than 10 years after initiation of the first application of biologics outside of controlled clinical trials. We identified 4 cases that illustrate the difficulties of diagnosis and treatment.
Rafiq, Mirza Faisal Ahmed; Farooq, Umar; Khan, Adil Aziz; Noor-ul-Ain
Significant proportion of sellar masses is seen in clinical practice. They range from most common pituitary adenomas to rare inflammatory lesions. Presentation can vary and depends if it secretes any hormone or imparts a pressure effect upon the surrounding vital structures. Radiological imaging coupled with histopathology is important tools of diagnosis. Management options depend upon type of disease.
Full Text Available We describe a case presenting complaint of complete lower body paraparesis, which was discovered to have splenic marginal zone lymphoma (SMZL. While paraneoplastic syndromes are more common in tumors, such as small cell lung cancer, very few reports exist on this condition with SMZL. We describe such a rare entity with a clinical course spanning twenty-four months after diagnosis.
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.
Richesson, Rachel; Sutphen, Rebecca; Shereff, Denise; Krischer, Jeff
The Rare Diseases Clinical Research Network (RDCRN) Contact Registry has grown in size and scope since it was first reported in this journal in 2007. In this paper, we reflect on our seven years’ experience developing and expanding the RDCRN Contact Registry to include many more rare diseases. We present the functional and data requirements that motivated this registry, and the new features and policies that have been developed since. Given the high costs and long-term commitme...
Neda A. Moatamed
Full Text Available Pleomorphic adenoma, also known as mixed tumor, is a benign tumor which typically presents as a painless and persistent mass. The majority of pleomorphic adenomas involve the salivary glands, most commonly the parotid gland. Other sites include breast and skin. It is a rare tumor in the vulva. In this article we are reporting a case of pleomorphic adenoma of labia with characteristic pathologic and clinical findings, as reminder of a common benign neoplasm occurring with rare locality.
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.
Haimovic, Adele; Chernoff, Karen; Hale, Christopher S; Meehan, Shane A; Schaffer, Julie V
Indeterminate cell histiocytosis (ICH) is a rare, heterogeneous disorder that is characterized by immunophenotypic features of both Langerhans cell histiocytosis (LCH) and non-LCH. We describe a 12-month-old boy with a four-month history of asymptomatic, small, pink-tan papules on his face. Histopathologic evaluation showed a superficial, dermal infiltrate of histiocytes that was positive for S100, CD1a, CD68, and Factor XIIIa. To our knowledge, this represents the first report of the clinical presentation of benign cephalic histiocytosis with immunohistochemical findings of ICH. We review the classification of histiocytic disorders and the clinical and immunohistochemical features of both ICH and benign cephalic histiocytosis.
Full Text Available We report a case of suppurative vasitis that presented as an inguinal mass in a n elderly man. Infectious vasitis, while rarely reported in the literature, is thought to be caused by Escherichia coli, mycobacteria causing tuberculosis, and other rare urogenital pathogens such as Haemophilus influenza. We report a case of tuberculous vasitis occurring as a primary infectious suppurative vasitis is rare and presenting as an inguinal mass is unusual. Only, very few cases were reported in literature with such presentation.
Full Text Available Background: Conjunctival myxoma is a type of rare, benign tumor of mesenchymal cells, with fewer than 30 reported cases in the English literature. It is mostly an isolated occurrence but can sometimes be associated with systemic diseases such as Carney complex or Zollinger-Ellison syndrome. It is necessary in clinical practice to differentiate it from other similar lesions, such as amelanotic nevus, lymphangioma, myxoid liposarcoma, spindle-cell lipoma, myxoid neurofibroma, and rhabdomyosarcoma. Case Presentation: The usual presentation of conjunctival myxoma is a translucent, well-circumscribed, and painless conjunctival mass, but in this report we discuss an unusual case of conjunctival myxoma in a 47-year-old Taiwanese woman who presented initially with pain and redness. This atypical presentation complicated the diagnosis and the management at first. Surgical excision of the mass was performed. The mass was found to be a conjunctival myxoma. The patient subsequently underwent extensive evaluation but was found not to have any systemic diseases with known association with conjunctival myxoma. Conclusions: In summary, we present a case of conjunctival myxoma in a 47-year-old Taiwanese woman. The initial presentation with pain and redness was atypical for conjunctival myxoma. The lesion was successfully managed with complete excisional biopsy.
Ruocco Heloísa H.
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.
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.
Perkins, Michael R.
Historiography is a growing area of research within the discipline of linguistics, but so far the subfield of clinical linguistics has received virtually no systematic attention. This article attempts to rectify this by tracing the development of the discipline from its pre-scientific days up to the present time. As part of this, I include the…
Lynch, Sally Ann; Borg, Isabella
The origins of clinical genetics services vary throughout Europe with some emerging from paediatric medicine and others from an academic laboratory setting. In 2011, the cross-border patients' rights directive recommended the creation of European Research Networks (ERNs) to improve patient care throughout EU. In 2013, the EU recommendation on the care for rare diseases came into place. The process of designating EU centres of expertise in rare diseases is being implemented to allow centres to enter ERNs. Hence, this is an opportune time to reflect on the current status of genetic services and research funding throughout Europe as 80 % of rare diseases have a genetic origin. Our aims were to determine (a) whether EU countries are prepared in terms of appropriate clinical genetic staffing to fulfil the European Union Committee of Experts on Rare Diseases (EUCERD) criteria that will allow national centres to be designated as centres of expertise, (b) which EU countries are successful in grant submissions to EU rare disease research funding and (c) country of origin of researchers from the EU presenting their research work as a spoken presentation at the European Society of Human Genetics annual conference. Our results show there is wide disparity of staffing levels per head of population in clinical genetics units throughout Europe. EU rare disease research funding is not being distributed equitably and the opportunity to present research is skewed with many countries not achieving spoken presentations despite abstract submissions. Inequity in the care of patients with rare diseases exists in Europe. Many countries will struggle to designate centres of expertise as their staffing mix and levels will not meet the EUCERD criteria which may prevent them from entering ERNs. The establishment of a small number of centres of expertise centrally, which is welcome, should not occur at the expense of an overall improvement in EU rare disease patient care. Caution should be
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.
Full Text Available Malignant melanoma, as the name implies, is a malignant tumor of melanocytes, found in the skin, eyes, meningeal lining and the mucosal epithelium of the aero-digestive and genitourinary tracts. Malignant melanoma is typically skin malignancy, which rarely presents at extracutaneous site. Here we present a rare case of primary retroperitoneal melanoma and review the findings in comparison with other cases described in literature.
Hotko, Y S
Despite male breast cancer is rare in occurrence, it is a serious problem. In 2012, 130 men in Ukraine got breast cancer that constituted 0.74% from all patients with mentioned pathology detected in the course of year. Every year in Ukraine approximately 100 men die from breast cancer. Still many aspects of male breast cancer remain unstudied. It occurs since information about mentioned disease is mainly based on retrospective analysis of small groups. Treatment of men, who got breast cancer, is based on knowledge, which has been obtained in treatment of women with this pathology. This article is based on the results of analysis of 168 cases of breast cancer in men, who have been examined and treated in the period from 1956 to 2012. In paper the peculiarities of clinical manifestations of male breast cancer have been determined, the optimal volume of diagnostic procedures in men with suspicion of breast cancer has been established, the mammographic signs have been detected and the possible histological variants of disease have been determined, clinical course peculiarities of male breast cancer have been defined, the most essential factors of prognosis of the disease have been fixed. Furthermore, in article optimal volume of surgical treatment of male breast cancer has been substantiated, the role and place of radiotherapy in treatment of this pathology has been determined. It has been proved that adjuvant polychemotherapy should be applied to the patients with male breast cancer independently from stage of process. Also optimal schemes of this kind of treatment have been determined. The efficacy of hormonal therapy with antiestrogen in patients with positive receptors of steroid hormones and at presence of unfavorable prognostic factors of disease has been demonstrated. The inefficiency of orchiectomy as one of the widespread kinds of hormonal therapy of male breast cancer has been defined.
Full Text Available Granulocytic sarcoma (GS is an extremely rare condition involving infiltration of myeloblasts or immature myeloid cells in an extramedullary site. It is also known as chloroma, myeloid sarcoma or extramedullary myeloid tumor. It usually occurs concomitantly with acute myelogenous leukemia or with the onset of blastic phase of chronic myelogenous leukemia. On rare occasions, it evolves even before the onset of leukemias, and when it precedes leukemias without any overt signs, it is referred to as the primary type. Although GSs can involve any body part, localization in the oral cavity is extremely rare. The recognition of this rare primary entity is important because early aggressive chemotherapy can cause regression of the tumor and improve survival. Here, we report a rare case of GS in a nonleukemic 62-year-old female who presented with generalized gingival enlargement involving both maxilla and mandible.
Perkins, Michael R
Historiography is a growing area of research within the discipline of linguistics, but so far the subfield of clinical linguistics has received virtually no systematic attention. This article attempts to rectify this by tracing the development of the discipline from its pre-scientific days up to the present time. As part of this, I include the results of a survey of articles published in Clinical Linguistics & Phonetics between 1987 and 2008 which shows, for example, a consistent primary focus on phonetics and phonology at the expense of grammar, semantics and pragmatics. I also trace the gradual broadening of the discipline from its roots in structural linguistics to its current reciprocal relationship with speech and language pathology and a range of other academic disciplines. Finally, I consider the scope of clinical linguistic research in 2011 and assess how the discipline seems likely develop in the future.
Full Text Available INTRODUCTION: Filarial worms are nematodes that live in lymphatic s and subcutaneous tissues. Eight filarial species are known to infect humans out of which most serious filarial infections are caused mostly by four parasites like Wuchereria bancrofti, Brugia malayi, Onchocerca volvulus and Loa loa. These parasites ar e transmitted by specific species of mosquitoes or other arthropods. The clinical manife stations of filarial diseases develop relatively slowly, these infections should be consi dered to induce chronic diseases with possible long- term debilitating effects. Characteristically , filarial disease is more acute and intense in newly exposed individuals than in natives of endemic areas.  Lymphatic filariasis (LF causes lymphoedema, hydrocele and acute attacks of dermato- lymphangio-adenitis.  It represents a major public health problem in tropical and subtropical regions of the world.  It is mainly a disease of the adult and older age-classes and appear s to be more prevalent in males.  Lymphatic filariasis is a major tropical disease aff ecting approximately 120 million people worldwide. India contributes about 40% of the tota l global burden and accounts for about 50% of the people at the risk of infection. A recent sur vey has shown that out of the 25 States/Union territories in India, 22 are endemic and nine state s (Andhra Pradesh, Bihar, Gujarat, Kerala, Maharashtra, Orissa, Tamil Nadu, Utter Pradesh and West Bengal contribute to about 95% of total burden. W. bancrofti is the predominant species accounting for about 98% of the national burden. [5
Berna İmge Aydoğan
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.
Full Text Available Abstract Desmoplastic fibroma (DF is a rare, benign but locally aggressive, intraosseous lesion with a high tendency of local recurrence. In this report the actual literature is reviewed regarding epidemiological data, pathology, clinical diagnostic criterias, therapy and prognosis. Moreover, a report of an interesting case is included localized in the mandibular corpus.
Pradipta Guha; Debasis Sarkar; Indranil Thakur; Partha Sardar; Sekhar Mukherjee; Sanjoy Kumar Chatterjee
@@ Introduction Nodular lymphocyte predominant Hodgkin's disease occurs in 5% of all cases of Hodgkin's disease. It occurs more commonly in male. Only 5% of all Hodgkin's lymphoma cases develop spinal cord compression and in only 0.2% cases, spinal cord compression occurs as the initial presentation. So our case is rare both in the form of the unique variety of Hodgkin's disease and also in the form of presentation.
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.
Ashok Nakum; Kesharmal Kumawat; Hiral Chauhan; Jayesh V Parikh
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital malformation characterized by an absence of the vagina associated with a variable abnormality of the uterus and the urinary tract but functional ovaries. We are reporting atypical presentation of rare case. Patient had obstructed left inguinal hernia with genitourinary and skeletal deformity. Latter it diagnosed as Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome which is a rare disease. [Natl J Med Res 2013; 3(4.000): 409-411
Full Text Available Background and Importance. Sellar tuberculomas are extremely rare lesions with nonspecific clinical manifestations. The tuberculous infection of the pituitary gland and sellar region is characterized by the presence of an acute or chronic inflammatory reaction and may occur in the absence of systemic tuberculosis. The diagnosis is difficult prior to the surgery. An adequate diagnostic and antituberculous drugs usually result in a good outcome. Clinical Presentation. We report four cases of sellar tuberculoma, 3/1 female/male, age range: 50–57 years. All patients had visual disturbances and low levels of cortisol. Conclusion. The clinical diagnosis of sellar tuberculoma is a challenge and should be suspected when a sellar lesion shows abnormal enhancement pattern and stalk involvement, and absence of signal suppression in FLAIR.
Full Text Available Primary adult hypertrophic stenosis is uncommon with an uncertain etiopathogenesis and associated gastric outlet obstruction mimics gastric carcinoma. We present a case of AHPS as sequel of peptic ulcer disease in a 72 year old male. With the advent of proton pump inhibitors as a mainstay of medical therapy, complication into gastric outlet obstruction is a rare disease today. Upper GI endoscopy revealed a distended stomach, residual food and a hyperemic bulky pylorus not accommodating the endoscope. Barium meal follow-through revealed a dilated stomach and minimal barium passing through the pylorus. Histological analysis revealed mild dysplasia at the focus with dense inflammatory infiltrates composed of lymphocytes and eosinophils in the lamina propria. No evidence of malignancy was noted, favouring chronic gastritis. The condition mimics other forms of proliferative disorders like carcinoma, gastrointestinal stromal tumors. We present the clinical findings, imaging analysis and discuss etiopathogenesis and management. [Int J Res Med Sci 2016; 4(5.000: 1730-1732
Petramfar, Peyman; Hosseinzadeh, Farideh; Mohammadi, S. Saeed
Introduction Pseudo-Foster Kennedy syndrome is a triad consisting of ipsilateral optic atrophy, contralateral optic disc edema, and ipsilateral anosmia in the absence of an intracranial mass. Vitamin B12 plays an important role in DNA synthesis, and its deficiency causes peripheral neuropathy, myeloneuropathy, and, very rarely, optic neuropathy. Case Presentation In this study, we describe a 34-year-old male who presented with progressive loss of visual acuity and field. Fundoscopy showed optic disc edema with telangiectasia in the right eye, while the left eye had optic disc atrophy. We ruled out nearly all possible and common causes of optic neuropathy, and vitamin B12 deficiency was finally diagnosed. After treatment with vitamin B12, the patient improved. Conclusions Demyelinating disease, anterior ischemic optic neuropathy, non-arteritic anterior ischemic optic neuropathy, autoimmune disease, and hereditary optic neuropathy could cause optic neuropathy. Normal CBC parameters and the absence of clinical manifestations of vitamin B12 deficiency could not rule out its diagnosis. Careful physical examinations and history-taking with a classical approach led us to the diagnosis of vitamin B12 deficiency and its treatment. PMID:27621919
Full Text Available Granulomatosis with polyangiitis (GPA, formerly known as Wegener's granulomatosis (WG, is a rare systemic vasculitis that classically manifests as necrotizing granulomas of the upper and lower respiratory tract, kidneys, and blood vessels; however, it may affect any organ system, including the skin. Cutaneous manifestations occur in up to 45% of patients during the disease course, and are the presenting feature in 9% to 14% of patients. The most common skin lesion specific to GPA is palpable purpura, with the histopathologic correlate of leukocytoclastic vasculitis. However, a wide range of clinical and histologic features may be seen. We herein report a case of a previously healthy 52-year-old Caucasian man who presented with multiple progressively enlarging painful ulcers on his face, upper extremities, back, and abdomen over a two-month period. Skin biopsies revealed pyoderma gangrenosum-like features. Serological tests were positive for PR3/c-ANCA. Six months later, the patient developed recurrent episodes of sinusitis associated with nasal bleeds and eventually nasal septum perforation. Despite aggressive treatment with Cyclophosphamide and steroids over one year, the patient had persistent nonhealing large ulcers and developed multiple lung nodules with cavitary lesions.
Waseem M Hajjar
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.
Dysphagia associated with esophageal mechanical obstruction is usually related to malignant esophageal diseases. Benign lesions are rarely a cause for this type of dysphagia, and usually occur either as an intramural tumor or as an extrinsic compression.Mediastinal tuberculous lymphadenitis is rare in adults, and even more rarely causes dysphagia. We report two cases of dysphagia in adult patients caused by mediastinal tuberculous lymphadenitis, presenting radiologically and endoscopically as an esophageal submucosal tumor.Based on the clinical and imaging diagnosis, the patients underwent a right thoracotomy, and excision of the mass attached to and compressing the esophagus. Pathological examination of the specimens showed a chronic granulomatous inflammation with caseous necrosis,which was consistent with tuberculous lymphadenitis.
Ulu-Kilic, Aysegul; Metan, Gökhan; Alp, Emine
Brucellosis is a worldwide zoonosis caused by Brucella species. The disease remains a significant economic and public health problem particularly in the Mediterranean countries. Clinical manifestations of brucellosis are variable and often nonspecific, simulating infectious and noninfectious diseases. Osteoarticular involvement is the most common focal complication of brucellosis and morbidity. Mortality rate due to brucellosis is low, mostly secondary to endocarditis and central nerve involvement of disease. The diagnosis of brucellosis depends on the clinical presentations and laboratory tests. Detection of Brucella species by culture method is sometimes unsuccessful; therefore, serological tests are preferred. These tests are easy to perform, and results can be obtained within a short span of time. Several serologic tests have been developed for the diagnosis of human brucellosis, including the standard agglutination tube (SAT) test, anti-human globulin (Coombs) test, indirect fluorescence antibody (IFA) test, and enzyme-linked immunosorbent assay (ELISA). SAT is the primary test used in many clinical laboratories. IFA and ELISA are simple and reliable for the detection of immunoglobulin classes especially in complicated cases. Polymerase chain reaction (PCR) technique is highly sensitive and specific for the determination of Brucella spp. from peripheral blood and other tissues. Recent patents are especially based on molecular assays in the diagnosis of brucellosis. However, PCR is still expensive and may not be appropriate for daily practice.
Santamaria, Patricia G; Moreno-Bueno, Gema; Portillo, Francisco; Cano, Amparo
Epithelial/mesenchymal transition (EMT) has emerged as a key regulator of metastasis by facilitating tumor cell invasion and dissemination to distant organs. Recent evidences support that the reverse mesenchymal/epithelial transition (MET) is required for metastatic outgrowth; moreover, the existence of hybrid epithelial/mesenchymal (E/M) phenotypes is increasingly being reported in different tumor contexts. The accumulated data strongly support that plasticity between epithelial and mesenchymal states underlies the dissemination and metastatic potential of carcinoma cells. However, the translation into the clinics of EMT and epithelial plasticity processes presents enormous challenges and still remains a controversial issue. In this review, we will evaluate current evidences for translational applicability of EMT and depict an overview of the most recent EMT in vivo models, EMT marker analyses in human samples as well as potential EMT therapeutic approaches and ongoing clinical trials. We foresee that standardized analyses of EMT markers in solid and liquid tumor biopsies in addition to innovative tools targeting the E/M states will become promising strategies for future translation to the clinical setting. © 2017 The Authors. Published by FEBS Press and John Wiley & Sons Ltd.
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.
Bakhaidar, Mohamad G.; Alghamdi, Fahad A.; Baeesa, Saleh S.
Eosinophilic granuloma (EG) represents a local form of Langerhans cell histiocytosis that occurs mostly in children. It usually presents with a gradually enlarging painless skull mass, and rarely presents a rapid clinical deterioration. This 7-year-old boy who was diagnosed with EG, based on a magnetic resonance imaging scan, after presenting with a painless right parietal swelling of 7-week duration. Three weeks prior his scheduled surgery, he presented to the emergency department with a 2-day history of sudden increased of the subcutaneous swelling associated with a headache, vomiting, and decreased the level of consciousness; there was no history of trauma. Brain computed tomography revealed a right parietal bone defect with large subgaleal and extradural hematoma. He underwent emergent surgical excision of the skull lesion and evacuation of the hematoma. Histopathological examination confirmed the diagnosis of EG. We aim to raise the awareness of physicians of this rare spontaneous hemorrhagic complication of EG and review the literature. PMID:27195034
Narrotam A. Patel
Full Text Available Reporting a rare case of a 17-year-old lady with late presentation of congenital diaphragmatic hernia. She presented with vague abdominal pain and postprandial vomiting. She underwent a diagnostic upper GI scopy with no significant findings. Chest X-ray and barium study for stomach were performed. Then CT scan was performed and showed herniation of bowel loops, mesentery and spleen into the left thoracic cavity through a large defect in the posterolateral aspect of the left hemidiaphgram. After the patient was operated, content reduced and defect was repaired. Thus CDH in adolescence is rare and a high index of suspicion is required.
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.
Full Text Available Neurofibromas commonly involve peripheral nervous system. Isolated neurofibroma of vagina is very rare tumor and usually associated with Von Recklinghausen’s disease. Vulva is the most frequent location of neurofibroma of genital tract followed by clitoris and labia. We present a rare case of neurofibroma of vaginal wall presented as vaginal cyst in a 52 year old female with no history of any other symptoms related to Recklinghausen’s disease. Excision biopsy was done and on the histopathological examination non-encapsulated, well circumscribed mass composed of spindle shaped cells with wavy nuclei and bland nuclear chromatin was noted. Immunohistochemistry revealed strong positivity with S-100.
Full Text Available Cervical and supraclavicular lymph nodes metastases generally arise from carcinomas of the head and neck. Metastases to cervical lymph nodes from the prostate are very rare. The common site for lymph node metastasis from the prostate is infradiaphrag- matic. Herein, we report a 69 year-old male who presented with cervical lymph node enlargement in the setting of prostate cancer. This type of presentation although rare, may warrant investigating the prostate as a source of metastasis in cases where the head and neck are free from carcinoma.
T. V. Korotaeva
Full Text Available The lecture gives basic information about psoriatic arthritis (PsA, a chronic inflammatory disease of the joints, spine, and enthesises from a group of spondyloarthritis. It describes the epidemiology of the disease and considers current ideas on its pathogenesis and factors influencing the development of PsA in psoriatic patients. The classification and clinical forms of PsA are presented. The major clinical manifestations of the disease are indicated to include peripheral arthritis, enthesitis, dactylitis, and spondylitis. The diagnosis of the disease is noted to be established on the basis of its detected typical clinical and radiological signs, by applying the CASPAR criteria. A dermatologist, rheumatologist, and general practitioner screen PsA, by actively detecting complaints, characteristic clinical and radiological signs of damage to the joints, and/or spine, and/or enthesises and by using screening questionnaires. There are data that patients with PsA are observed to be at higher risk for a number of diseases type 2 diabetes mellitus hypertension, coronary heart disease, obesity, metabolic syndrome, inflammatory bowel diseases, etc. The aim of current pharmacotherapy for PsA is to achieve remission or minimal activity of clinical manifestations of the disease, to delay or prevent its X-ray progression, to increase survival, to improve quality of life in patients, and to reduce the risk of comorbidities. The paper considers groups of medicines used to treat the disease, among other issues, information about biological agents (BA registered in the Russian Federation for the treatment of PsA. Most patients are mentioned to show a good response to this therapy option just 3–6 months after treatment initiation; however, some of them develop primary inefficiency. In this case, switching one BA to another is recommended. Some patients using a BA develop secondary treatment inefficiency, which is firstly due to the appearance of
Kaliki Hymavathi Reddy
Full Text Available Ovarian cancer is the third most common neoplasm of the female genital tract. Based on the cell type of origin, primary ovarian malignancies are classified into surface epithelium, germ cell, and sex cord tumors. Sex cord tumors account for 1% to 2% of ovarian malignancies. They may contain granulosa cells, theca cells, sertoli cells, or fibroblasts of gonadal stromal origin. Granulosa Cell Tumours (GCTs account for approximately 2-5% of all ovarian tumors and can be divided into adult (95% and juvenile (5% types based on histologic findings. GCTs secrete estrogen thus resulting in menstrual irregularities in the affected individual. More serious estrogen effects can occur in various end organs such as uterus resulting in endometrial hyperplasia, endometrial adenocarcinomas and increased risk of breast cancers. Androgen production is also reported but rare and produces virilization in the affected women. Juvenile Granulosa Cell Tumours (JGCTs are clinically and histopathologically distinct from the GCTs. They are rarely encountered but mostly in youngsters. Surgery is the primary modality of treatment with chemotherapy being reserved for advanced or recurrent disease states. We herewith report an interesting case of JGCT in a young teenage girl. [Int J Reprod Contracept Obstet Gynecol 2014; 3(4.000: 1150-1154
Recognizing histological variants in urothelial carcinoma (UC) is important because some may be associated with different clinical outcomes and/or therapeutic approaches; being aware of unusual histological variants may also be crucial in preventing diagnostic misinterpretations. Histological variants based on cytoplasmic features, such as clear-cell, plasmacytoid, rhabdoid, and lipoid-rich variants, are described in invasive UC; however, these cytoplasmic features are not formally defined and not usually encountered in non-invasive UC. Oncocytic cytoplasm has not been well described in either invasive or non-invasive UC. Herein, we report an exceedingly rare case of UC with oncocytic features arising in the right renal pelvis, which presented a diagnostic challenge in urine cytology due to the relatively low nuclear-to-cytoplasmic ratio; however, it could definitively be diagnosed using histological specimens. UC diagnosis is based on the presence of papillary architecture and widespread p53 nuclear accumulation, suggesting malignancy. An oncocytic tumor is generally considered to be not actively dividing, as shown by the low Ki-67 labeling index in this case. In spite of the low proliferative activity, the possibility of intravesicle recurrence (IVR) should be considered since positive preoperative cytology of upper tract UC is a risk factor for IVR after nephroureterectomy.
Brooks, John K; Schwartz, Kevin G; Basile, John R
The superficial mucocele is a rare variant of the common mucocele and noted microscopically by subepithelial pools of mucin. To increase the understanding of oral superficial mucoceles, a database was created from the demographics of case reports and case series from a PubMed search. At least 200 patients with superficial mucoceles have been described in the English-language literature, 82 of whom had biopsy-proven lesions; additional clinical information was available for 39 of these 82 patients. Compiled data suggest superficial mucoceles offered phenotypic distinctions from the common mucocele because they were more apt to occur in middle-aged women, often on the soft palate and buccal mucosa. Affected patients frequently had multiple lesions that were smaller than 3 mm and nearly 50% of patients developed recurrence. This report also describes the first histopathologically confirmed case of a superficial mucocele arising on the ventral tongue in a 22-year-old man. It is speculated that the glossal lesion might have developed from long-term impingement from exposed metal barbs from an orthodontic splint. Persistent lesions or atypical presentations underscore the need for histopathologic examination. Copyright © 2015 The American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.
Brinda Rao Korivi
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.
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.
John Chung-Han Wu
Full Text Available Dorsal nasal gouty tophus are rare occurrences with limited documentation. Here we report a male patient who has a history of poorly controlled gouty arthritis. He had nasal obstruction with an enlarging mass over his left nasal ridge for the past three years. Image studies revealed a nasal bone defect underneath the nasal lesion. The firm mass was excised and confirmed to be of gouty origin. The nasal bone defect was repaired with a titanium mesh plate to prevent nasal depression. He has fully recovered with no more nasal obstruction or recurrence of nasal tophus. The case report illustrates a common illness, gout, with a rare clinical manifestation leading to a common symptom, nasal obstruction. It demonstrates the importance of a detailed history, a thorough physical examination and most important of all, an extensive differential diagnosis in our clinical practice.
Full Text Available Dermatomyositis (DM is a chronic inflammatory disorder of the skin and muscles. Evidence supports that DM is an immune-mediated disease and 50-70% of patients have circulating myositis-specific auto-antibodies. Gene expression microarrays have demonstrated upregulation of interferon signaling in the muscle, blood, and skin of DM patients. Patients with classic DM typically present with symmetric, proximal muscle weakness, and skin lesions that demonstrate interface dermatitis on histopathology. Evaluation for muscle inflammation can include muscle enzymes, electromyogram, magnetic resonance imaging, and/or muscle biopsy. Classic skin manifestations of DM include the heliotrope rash, Gottron′s papules, Gottron′s sign, the V-sign, and shawl sign. Additional cutaneous lesions frequently observed in DM patients include periungual telangiectasias, cuticular overgrowth, "mechanic′s hands", palmar papules overlying joint creases, poikiloderma, and calcinosis. Clinically amyopathic DM is a term used to describe patients who have classic cutaneous manifestations for more than 6 months, but no muscle weakness or elevation in muscle enzymes. Interstitial lung disease can affect 35-40% of patients with inflammatory myopathies and is often associated with the presence of an antisynthetase antibody. Other clinical manifestations that can occur in patients with DM include dysphagia, dysphonia, myalgias, Raynaud phenomenon, fevers, weight loss, fatigue, and a nonerosive inflammatory polyarthritis. Patients with DM have a three to eight times increased risk for developing an associated malignancy compared with the general population, and therefore all patients with DM should be evaluated at the time of diagnosis for the presence of an associated malignancy. This review summarizes the immunopathogenesis, clinical manifestations, and evaluation of patients with DM.
Filippou, Dimitrios K; Vezakis, Antonios; Filippou, Georgios; Condilis, Nicolas; Rizos, Spiros; Skandalakis, Panagiotis
A rare case of ectopic pancreas in the ampulla of Vater presented with obstructive jaundice. Ectopic pancreas is a common congenital disorder which is referred to as pancreatic rest. The incidence in autopsy series varies from 1 to 2% (range 0.55 to 13%). Most common site of ectopic pancreatic tissue is the stomach, although it can be found anywhere in the foregut and the proximal midgut. Ectopic pancreatic tissue in the ampulla of Vater is a very rare condition. Searching in the literature, using the terms "ectopic pancreas" and "Ampulla of Vater", we found only 10 records. The authors report on a rare case of a 69 years old female with ectopic pancreas in the ampulla of Vater, presented with painless obstructive jaundice, and the diagnostic and therapeutic strategy that followed.
Aims of radiation oncology are cure from malignant diseases and - at the same time preservation of anatomy (e.g. female breast, uterus, prostate) and organ functions (e.g. brain, eye, voice, sphincter ani). At present, methods and results of clinical radiotherapy (RT) are based on experiences with natural history and radiobiology of malignant tumors in properly defined situations as well as on technical developments since World War II in geometrical and biological treatment planning in teletherapy and brachytherapy. Radiobiological research revealed tolerance limits of healthy tissues to be respected, effective total treatment doses of high cure probability depending on histology and tumor volume, and - more recently - altered fractionation schemes to be adapted to specific growth fractions and intrinsic radiosensitivities of clonogenic tumor cells. In addition, Biological Response Modifiers (BRM), such as cis-platinum, oxygen and hyperthermia may steepen cell survival curves of hypoxic tumor cells, others - such as tetrachiordekaoxid (TCDO) - may enhance repair of normal tissues. Computer assisted techniques in geometrical RT-planning based on individual healthy and pathologic anatomy (CT, MRT) provide high precision RT for well defined brain lesions by using dedicated linear accelerators (Stereotaxy). CT-based individual tissue compensators help with homogenization of distorted dose distributions in magna field irradiation for malignant lymphomas and with total body irradiation (TBI) before allogeneic bone marrow transplantation, e.g. for leukemia. RT with fast neutrons, Boron Neutron Capture Therapy (BNCT), RT with protons and heavy ions need to be tested in randomized trials before implementation into clinical routine.
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.
Ashvin K Tadakamalla
Full Text Available Context: Schistocytes are fragmented red blood cells due to the flow of blood through damaged capillaries and indicate endothelial injury. They are typical of microangiopathic hemolytic anemia seen in life threatening conditions like disseminated intravascular coagulation or thrombotic thrombocytopenic purpura/hemolytic uremic syndrome .We report a rare sub-acute presentation of pernicious anemia with hemolysis, thrombocytopenia and numerous schistocytes that was initially diagnosed as a more serious thrombotic thrombocytopenic purpura. Case Report : A 31-year-old Caucasian woman presented with fatigue and paresthesia of both feet for 1 week. Past medical history included hypertension and gastro-esophageal reflux disease. Examination revealed scleral icterus and pallor. Examination of the abdomen did not show hepatosplenomegaly. Initial laboratory tests showed severe anemia, and low platelets. Indirect bilirubin and serum Lactate De Hydrogenase were elevated. Prothrombin time, partial thromboplastin time, serum fibrinogen, and serum fibrin degradation product levels were normal. Peripheral smear revealed numerous schistocytes, anisocytosis and macro-ovalocytes. Thrombotic thrombocytopenic purpura (TTP was suspected due to the constellation of sub-acute onset of fatigue and paresthesia along with thrombocytopenia, schistocytes and an elevated LDH. Plasmapheresis was initiated for possible TTP. However, platelet count worsened despite plasmapheresis for 4 days. On re-evaluation, vitamin B 12 was found to be low. Treatment with intra-muscular vitamin B 12 led to symptomatic and hematologic improvement. Pernicious anemia was confirmed by the presence of anti-intrinsic factor antibodies, elevated serum gastrin level and atrophic gastritis. Conclusion : Clinicians must be aware of unusual clinical presentation of vitamin B 12 deficiency with schistocytes as the management is simple and effective.
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.
Anil Kumar Sharma
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.
Daruwalla, Z J
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.
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
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
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)
Suman S Karanth; Hariharan Regunath; Kiran Chawla; Mukhyaprana Prabhu
Burkholderia cepacia (B. cepacia) infection is rarely reported in an immunocompetent host. It is a well known occurence in patients with cystic fibrosis and chronic granulomatous disease where it increases both morbidity and mortality. It has also been included in the list of organisms causing nosocomial infections in an immunocompetent host, most of them transmitted from the immunocompromised patient in which this organism harbors. We report a rare case of isolation of B. cepacia from the bronchoalveolar lavage fluid of an immunocompetent agriculturist who presented with productive cough and fever associated with a pyopneumothorax. This is the first case of community acquired infection reported in an immunocompetent person in India.
Full Text Available Gestational trophoblastic neoplasias (GTN are rare tumours that constitute less than 1% of all gynaecological malignancies. Invasive mole is a distinct subgroup of GTN, which if not diagnosed and treated early, can result in serious complications like uterine perforation and haemoperitoneum. We present a rare case of torsion theca lutein cyst in association with invasive mole of the uterus, which developed following the evacuation of a molar pregnancy with features of continued irregular vaginal bleeding, persistently high betaHcg levels along with acute abdomen. [Int J Reprod Contracept Obstet Gynecol 2015; 4(4.000: 1237-1240
Suman S Karanth
Full Text Available Burkholderia cepacia (B. cepacia infection is rarely reported in an immunocompetent host. It is a well known occurence in patients with cystic fibrosis and chronic granulomatous disease where it increases both morbidity and mortality. It has also been included in the list of organisms causing nosocomial infections in an immunocompetent host, most of them transmitted from the immunocompromised patient in which this organism harbors. We report a rare case of isolation of B. cepacia from the bronchoalveolar lavage fluid of an immunocompetent agriculturist who presented with productive cough and fever associated with a pyopneumothorax. This is the first case of community acquired infection reported in an immunocompetent person in India.
Santolaria, Santos; Dominguez, Manuel; Alcedo, Javier; Abascal, Manuel; García-Prats, M Dolores; Marigil, Miguel; Vera, Jesus; Ferrer, Margarita; Montoro, Miguel
Lymphocytic duodenosis (LD) is a characteristic lesion in the initial phases of celiac disease (CD) but can be associated with many other entities. The aim of this study was to evaluate the prevalence of distinct causes of LD and possible differences in clinical presentation according to etiology. A retrospective study was performed that included 194 patients diagnosed with LD (more than 25 intraepithelial lymphocytes per 100 epithelial cells). A preestablished strategy to evaluate the cause of the disease was followed that included celiac serology (antitransglutaminase antibodies), HLA-DQ2/DQ8 genotypes, diagnosis of Helicobacter pylori and small intestinal bacterial overgrowth (SIBO). Diagnosis of CD was established on the basis of clinical and histological response to a gluten-free diet in patients with positive serology or compatible findings on HLA-DQ2 (at least one of the alleles) or -DQ8 (both alleles) study. The most frequent cause of LD was CD (39%), followed by SBBO (22%), H.pylori (14%), CD and SIBO (12%), and other causes (13%). Most of the patients (83%) had a compatible HLA-DQ2 or -DQ8 genotype. In these patients, the most frequent diagnosis was CD (46%), while in the absence of HLA-DQ2/DQ8, the most frequent diagnoses were SIBO (44%) and H. pylori (22%). CD was the most frequent diagnosis in patients referred for dyspepsia, diarrhea and anemia, while H. pylori was the most frequent diagnosis in patients with abdominal pain. The most common causes of LD in our environment are CD, followed by SIBO and H. pylori infection. Copyright © 2013 Elsevier España, S.L. and AEEH y AEG. All rights reserved.
Faki Osman, Mohamed El
Immune thrombocytopenia (ITP) is an acquired hematological disorder that is developed secondary to the production of auto-antibodies against platelets leading to isolated thrombocytopenia, in the absence of other causes of thrombocytopenia such as drugs, infections, malignancy, or other autoimmune diseases [1–6]. ITP commonly affects children between one and seven years of age. Severe life threatening bleeding is rare (0.2–0.9%) [7–12]. Childhood primary ITP usually runs a benign, self-limiti...
Full Text Available Supernumerary breast or polymastia is a well-documented anomaly of the breast and commonly presents along the embryonic milk line extending between the axilla and groin. Reported incidence of accessory breast is 0.4-6% in females. During 2 years period, we encountered only two cases out of twenty cases of axillary lumps. We present one case of fibroadenoma in ectopic breast tissue (EBT in axilla. Ectopic breast denotes breast tissue at more than two pectoral regions, which is mostly benign but at times can be malignant. EBT is at a greater risk of malignancy. Fibroadenoma of ectopic axillary breast tissue (EBT is quiet rare, but should always be kept in mind for differential diagnosis of an axillary mass.
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.
Jiten P Kothadia
Full Text Available The increased deposition of iron in gastric mucosa is known as gastric siderosis. It is believed that the only regulated step of the iron metabolism cycle occurs during absorption in the small intestine. Once this system becomes overwhelmed due to either local or widespread iron levels, then iron can be absorbed very quickly by a passive concentration-dependent mechanism. This excess iron is initially stored in the liver but later can be found in the pancreas, heart and joints. Excess iron is not expected to deposit in the gastric mucosa. This gastric deposition has been found in association with hemochromatosis, oral iron medications, alcohol abuse, blood transfusions, hepatic cirrhosis and spontaneous portacaval shunt with esophageal varices. The precise mechanism of this iron deposition in gastric epithelial and stromal cells is still not well understood; thus, identification of iron in gastric mucosa raises many questions. On histology, the pattern of deposition is variable, and recognition of the pattern is often useful to choose the appropriate workup for the patient and to diagnose and possibly treat the cause of iron overload. In this article, we have described a well-referenced review of this rare clinical entity with different histological patterns, diagnostic tests and the clinical significance of the different patterns of iron deposition.
Aiyer, Siddharth N; Shetty, Ajoy Prasad; Kanna, Rishi; Maheswaran, Anupama; Rajasekaran, S
Spinal cord herniation following surgery is an extremely uncommon clinical condition with very few reports in published literature. This condition usually occurs as a spontaneous idiopathic phenomenon often in the thoracic spine or following a scenario of post traumatic spinal cord/nerve root injury. Rarely has it been reported following spinal cord tumor surgery. To document a case of cervical spinal cord herniation as a late onset complication following spinal cord tumor surgery with an atypical presentation of monoparesis. Case report. We describe the clinical presentation, operative procedure, post operative outcome and review of literature of this rare clinical condition. A 57-year-old man presented with right upper limb monoparesis due to a spinal cord herniation 6 years after a cervical intradural meningioma excision. The patients underwent surgery to reduce the herniation and duroplasty with subsequent complete resolution of symptoms. Spinal cord herniation must be considered as differential diagnosis in scenarios of spinal cord tumor excision presenting with late onset neurological deficit. These cases may present as paraparesis, Brown-sequard syndrome and rarely as in our case as monoparesis.
Leena, J B; Fernandes, Hilda; Swethadri, G K
Malignant peripheral nerve sheath tumors(MPNST) are uncommon neoplasms with an incidence of 0.001% in general population. Multifocality is a rare manifestation of MPNST . A case of a 65 year old patient who presented with multiple swellings involving the neck, extremity and back without associated neurofibromatosis is reported for its rarity of presentation.. Diagnosis was made by FNAC and confirmed by peroperative findings and histopathology.
Petramfar, Peyman; Hosseinzadeh, Farideh; Mohammadi, S. Saeed
Introduction Pseudo-Foster Kennedy syndrome is a triad consisting of ipsilateral optic atrophy, contralateral optic disc edema, and ipsilateral anosmia in the absence of an intracranial mass. Vitamin B12 plays an important role in DNA synthesis, and its deficiency causes peripheral neuropathy, myeloneuropathy, and, very rarely, optic neuropathy. Case Presentation In this study, we describe a 34-year-old male who presented with progressive loss of visual acuity and field. Fundoscopy showed opt...
Romero-Santacruz, Edith; Lira-Canul, Janeth Jaqueline; Pacheco-Tugores, Fredy; Palma-Chan, Adolfo Gonzalo
Dengue is an infectious disease caused by a flavivirus, with four serotypes, transmitted by the mosquito Aedes aegypti. In Mexico it is a public health problem, especially in the region of central and southeast of the country. The disease can be asymptomatic or present serious forms and even death. It is confirmed by detection of the NS1 Antigen; IgM antibodies, polymerase chain reaction and virus isolation. The vertical transmission to de newborn has been little studied. 7 cases in neonates from November to December 2011 are reported. All patients were male, obtained by caesarean section between 34 and 40 weeks of gestation, whose mothers were enrolled with fever and symptoms associated with dengue disease and serology positive for dengue. Six with positive AgNS1 and one positive IgM; one mother died. All the newborns had positive serology for dengue, 4 with positive AgNS1 and 3 positive IgM. The clinical features of the newborn ranged from asymptomatic to one serious dengue fever, shock and hemorrhage. The symptomatic 6 attended with thrombocytopenia, changes in temperature and unspecific disturbance. The severity of mothers conditioned disrepair product at birth, but not with subsequent gravity of the new born. Vertical trasmission of dengue should be suspected in risk areas, to maintain vigilance and to give early treatment. Also is neccesary promote the realization of specific diagnostic and therapeutic guidelines to the neonatal period.
Bali, Kamal; Kumar, Vishal; Rawall, Saurabh; Sudesh, Pebam
Primary metaphyseodiaphyseal chondroblastoma is rare. To our knowledge, very few such cases have been reported in the English literature. Insidious onset of pain is the most common complaint in patients with chondroblastoma. A clinical presentation of constitutional symptoms along with a metaphyseodiaphyseal lesion on radiographs in a young child usually points toward a diagnosis of Ewing's sarcoma or infection. Here, we document a case of metaphyseodiaphyseal chondroblastoma of femur in a 6-year-old child presenting with chief local complaints of an intermediate onset pain and swelling along with systemic complaints of fever and malaise. The patient was operated by excision of the tumor and reconstruction using autogenous-free fibular graft.
Annu Babu; Amit Gupta; Pawan Sharma; Piyush Ranjan; Atin Kumar
Blunt traumatic injuries to the superior gluteal artery are rare in clinic.A majority of injuries present as aneurysms following penetrating trauma,fracture pelvis or posterior dislocation of the hip joint.We reported a rare case of superior gluteal artery pseudoaneurysm following blunt trauma presenting as large expanding right gluteal hematoma without any bony injury.The gluteal hematoma was suspected clinically,confirmed by ultrasound and the arterial injury was diagnosed by CT angiography that revealed a large right gluteal hematoma with a focal contrast leakage forming a pseudoaneurysm within the hematoma.Pseudoaneurysm arose from the superior gluteal branch of right internal iliac artery,which was successfully angioembolized.The patient was discharged on day 4 of hospitalization with resolving gluteal hematoma.This report highlighted the importance of considering an arterial injury following blunt trauma to the buttocks with subsequent painful swelling.Acknowledgment of this rare injury pattern was necessary to facilitate rapid diagnosis and appropriate treatment.
Coutinho, Jessica Castiel; Westphal, Danielle Cristine; Lobato, Laís Cruz; Schettini, Antônio Pedro Mendes; Santos, Mônica
Rosacea fulminans or pyoderma faciale is a rare cutaneous disorder that usually affects women usually between the ages of 15-46. The disease is characterized by sudden onset of papules, pustules, cysts, and painful coalescing nodules with red-cyanotic centrofacial erythema. Although its etiology remains unknown, hormonal, immunological, and vascular factors have been reported. Early diagnosis and prompt treatment should minimize unsightly scars. We report a case of a 33-year-old female patient treated with traditional doses of doxycycline, with improvement of the lesions and regression of the condition in two months. PMID:28300926
Biyani, Sumant; Jha, Sneh Kumar; Pandey, Suchit; Shukla, Rakesh
We report a case of bilateral useless hand syndrome, a rare presenting manifestation of vitamin B12 deficiency. A 38-year-old man, a strict vegetarian and a teacher by occupation, presented with acute onset clumsiness of both hands while performing fine movements. Detailed history-taking, examination of the patient and relevant investigations (complete blood count, serum vitamin B12 and MRI of the cervical spinal cord) were carried out. Laboratory analysis was suggestive of vitamin B12 deficiency and MRI demonstrated a lesion involving the posterior columns of the cervical cord. The patient was diagnosed as a case of non-compressive cervical myelopathy predominantly involving the posterior column due to vitamin B12 deficiency. Acute bilateral useless hand syndrome can be a rare presenting feature of vitamin B12 deficiency.
Full Text Available Wegener′s granulomatosis (WG is a systemic necrotizing vasculitis that affects the small blood vessels. It mainly affects the upper and lower respiratory tract and kidneys. Central nervous system (CNS involvement is rare, and has been reported only in about 8% of cases during the course of illness. Initial presentation with neurologic affection, particularly chronic hypertrophic meningitis is very unusual. We report the case of a 34 year old male who presented with chronic hypertrophic meningitis and multiple cranial nerve involvement as the initial manifestation, without respiratory and renal symptoms. This case highlights the difficulties in diagnosing a rare disease with rarer presentation, and at the same time illustrates that Wegener′s granulomatosis should be considered in the differential diagnosis of chronic meningitis.
Baslaim, Muna M; Khayat, Hind A; Al-Amoudi, Shefaa A
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.
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.
Full Text Available Isolated adrenocorticotropic hormone (ACTH deficiency is a rare cause of hypocortisolism, mostly associated with lymphocytic hypophisitis (LYH. Autoimmune miyelofibrosis is another rare autoimmune disease causing bone marrow fibrosis. Here, we report the case of a patient who presented with common symptoms (weakness, fatigue, weight loss, vague pain and anemia and was diagnosed with both rare autoimmune disorders (lymphocytic hypophisitis and autoimmune myelofibrosis. A 34-year-old male presented with weakness, fatigue, weight loss, and diffuse musculoskeletal pain. He had mild normochromic normocytic anemia. Further investigations revealed bone marrow fibrosis. The World Health Organization criteria were not fulfilled for the diagnosis of primary myelofibrosis. Since his symptoms could not be explained by mild anemia, a thorough evaluation was performed which revealed hypocortisolism associated with undetectable ACTH. Insulin-induced hypoglycemia test yielded insufficient response of ACTH and cortisol. Sellar MRI demonstrated typical features of LYH. Resolution of all the symptoms and anemia was achieved with low-dose glucocorticoid replacement therapy. In conclusion, when evaluating a patient presenting with fatigue, weight loss, vague pain, backache, and mild anemia, hypocortisolism also should be kept in mind in the differential diagnosis. If the case is isolated ACTH deficiency, the most probable cause is LYH. In such a case, additional endocrinological or non-endocrinological autoimmune disorders are likely to be present. We report the first case of lymphocytic hypophysitis coexisting with autoimmune myelofibrosis. Turk Jem 2014; 2: 47-51
Full Text Available Acute renal failure following vasculotoxic viperine snake bites is very common in South Asia. Acute tubular necrosis and acute cortical necrosis are the common findings, with acute interstitial nephritis (AIN being a rare presentation. We conducted renal biopsies in all patients who were admitted in our institute with viperine snake bite-related acute kidney injury (AKI and who did not improve after three weeks of supportive care. Patients who had findings of AIN on renal histology were included for this study. Of a total of 42 patients, there were five patients (11.9% with AIN. Our series of five patients is the largest series of this rare presentation in the literature. All of these five patients had features of severe envenomation, severe AKI network stage of AKI and very high antivenom requirements. They had a very prolonged stay in the hospital, and four of the five patients developed chronic kidney disease on follow-up. The overall outcome in this group was worse as compared with those who did not have AIN. AIN following viperine snake bites is not a very rare presentation. The reason for the development of this pathology is unclear, but direct venom-related effects are possible. This presentation portends a poor overall long-term prognosis as demonstrated in our case series.
Waldman, S A; Terzic, A
Clinical Pharmacology & Therapeutics (CPT), the definitive and timely source for advances in human therapeutics, transcends the drug discovery, development, regulation, and utilization continuum to catalyze, evolve, and disseminate discipline-transformative knowledge. Prioritized themes and multidisciplinary content drive the science and practice of clinical pharmacology, offering a trusted point of reference. An authoritative herald across global communities, CPT is a timeless information vehicle at the vanguard of discovery, translation, and application ushering therapeutic innovation into modern healthcare.
Verma, Rajesh; Bhandari, Aveg; Tiwari, Navin; Chaudhari, Tejendra S
Wilson disease (WD) is one of the few inherited but treatable disorder mainly affecting the liver and brain resulting in severe disability or death if left untreated. Hence, it is important to keep a high index of suspicion for diagnosing this clinical entity in appropriate clinical settings. The clinical presentation can be quite variable and they may present solely with neurological features sans hepatic symptoms. Such neurological manifestations usually follow subacute to chronic course. A...
Krenzlin, H; Jussen, D; Musahl, C; Scheil-Bertram, S; Wernecke, K; Horn, P
Background Sarcoidosis is a systemic disorder of unknown origin characterized by noncaseating granulomas. Clinical symptoms due to central nervous system (CNS) involvement occur in 5 to 7% of all cases; subclinical involvement is more frequent. Sole CNS involvement is very rare. Case Report A 25-year-old man presented with increasing polyuria and polydipsia over 8 weeks. Magnetic resonance imaging (MRI) revealed a supra- and infra-chiasmatic pre-thalamic mass lesion 1.0 × 1.4 × 1.4cm in diameter. Microsurgical biopsy verified a necrotizing noncaseating epithelioid cell tumor indicative for neurosarcoidosis. All symptoms dissolved within 3 months under stringent corticoid therapy. Conclusion Intracranial mass lesions as the primary and only manifestation of neuronal sarcoidosis are rare. Because conservative treatment is safe and effective, surgery is limited to biopsy and the alleviation of pressure-related symptoms to preserve neurologic function.
Hung, Yao-Min; Chang, Yun-Te; Wang, Jyh-Seng; Wang, Paul Yung-Pou; Wann, Shue-Ren
Tuberculous aortic aneurysm is an extremely rare disease with a high mortality rate. The clinical features of this condition are highly variable, ranging from asymptomatic with or without constitutional symptoms, abdominal pain to frank rupture, bleeding and shock. We herein report the case of a 56-year-old man with a large tuberculous mycotic aneurysm in the abdominal aorta with an initial presentation of repeated attacks of abdominal pain lasting for several months. Due to the vague nature of the initial symptoms, tuberculous aortic aneurysms may take several months to diagnose. This case highlights the importance of having a high index of suspicion and providing timely surgery for this rare but potentially lethal disease.
Full Text Available : Sheehan’s Syndrome (SS also known as postpartum Hypopituitarism or postpartum pituitary necrosis is a condition in which hypopituitarism develops after severe bleeding during or immediate after childbirth. The incidence of Sheehan’s syndrome is 0.5% of all cases of Hypopituitarism. Reporting a rare case of SS who presented post Obstetric hysterectomy within 5 months with signs of agalactia, severe hypoglycemia, hyponatremia.
Full Text Available Omental cysts are rare entity with a prevalence of 1: 1,000,000 in adults and in 1: 20, 000 in children. We are reporting a case of a 30 year female patient with abdominal lump over epigastrium and left hypochondrium for 6 months; diagnosed on laparotomy as uniloculated omental cyst originating from lesser omentum. Omental cyst is a challenging diagnostic entity with varied presentations and a wide range of differential diagnosis has to be kept in mind.
Full Text Available Rhino-orbital-cerebral zygomycosis afflicts primarily diabetics and immunocompromised individual, but can also occur in normal hosts rarely. We here presented an interesting case of facial nerve palsy and multiple cold abscesses of neck due to rhino-orbital-cerebral zygomycosis in an otherwise healthy man. Although some reports of facial nerve paralysis in conjunction with rhino-orbital-cerebral zygomycosis exist, no case of bilateral complete facial paralysis has been reported in the literature to date.
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.
Full Text Available Persistent gout may progress into a condition termed as chronic tophaceous gout, which involves the deposition of nodular mass of uric acid crystals called tophi in various soft tissue areas of the body. Generally, the anti-cyclic citrullinated peptide (anti-CCP antibody testing is considered as a highly specific confirmatory test for RA. We present here a rare case report of chronic tophaceous gouty arthritis with anti-CCP positivity.
Chaudhary, Nagendra; Mahato, Shyam Kumar; Khan, Salamat; Pathak, Santosh; Bhatia, B D
Neurocysticercosis (NCC) is one of the most common parasitic infestations (Taenia solium) of central nervous system (CNS) in children. Seizures are the common presenting symptoms. Hydrocephalus and optic atrophy are rare complications which may require neurosurgical interventions. We report a case of NCC with hydrocephalus and bilateral optic atrophy associated with vision loss in a Nepalese patient who improved with anti-parasitic therapy followed by ventriculo-peritoneal (VP) shunting.
Billingham, Lucinda; Malottki, Kinga; Steven, Neil
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.
Guilhoto, Laura M
Although absence seizures do predominate in childhood they may occur at all ages and clinical presentation varies widely. Albeit considered a benign seizure type, chronic evolution with therapeutic refractoriness is possible in some patients with absences. The aim of this paper is to summarize the main syndromic presentation of absence seizures and its outcome regarding treatment and prognosis. We performed a review of literature with emphasis in historic and classical manuscripts about absence epilepsy. Absence was described in the beginning of last century as a seizure type with good evolution, but it is still difficult to preview a strict prognosis for an individual patient. Some positive early predictors were reported such as response to initial treatment and seizure onset in childhood. Genetic aspects are not yet well understood although some families have been reported with rare mutations in ion channel coding genes. Absence seizures are present in different epilepsy syndromes and nosological classification is not always possible. Outcome depends on clinical variables such as age of onset, presence of other seizure types and initial response to treatment. Copyright © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.
G.M. Ecury-Goossen (Ginette); J. Dudink (Jeroen); M. Leguin (Maarten); M. Feijen-Roon (Monique); S. Horsch (Sandra); P. Govaert (Paul)
textabstractThe objective of this study was to evaluate clinical symptoms and findings on cranial ultrasound (CUS) in preterm infants with cerebellar haemorrhage through retrospective analysis of all preterm infants with a postnatal CUS or MRI diagnosis of cerebellar haemorrhage admitted in a tertia
Sunil Somnath Patil
Conclusions: There is need of setting menopausal clinics and centres to help women with symptoms and signs of estrogen deprivation. Counseling and education are main treatment modalities. [Int J Reprod Contracept Obstet Gynecol 2016; 5(3.000: 757-761
van Harten, Peter N.; Tenback, Diederik E.; Brotchie, J; Bezard, E; Jenner, P
Tardive dyskinesia (TD) is a common and potentially irreversible side effect of dopamine blocking agents, most often antipsychotics. It is often socially and sometimes also physically disabling. The clinical picture can be divided into orofacial, limb-truncal, and respiratory dyskinesia. The clinica
Borgonovo, A E; Grossi, G B; Maridati, P C; Maiorana, C
The aim of this article was to describe a rare case of paradental cyst of the permanent mandibular second molar. A 14-year-old girl was referred to Oral Surgery Department, Dental Clinic, IRCSS Fondazione Ca' Granda, University of Milan, Italy, for the evaluation of the deep probing located on the buccal aspect of her erupted mandibular left second molar. Clinical signs of inflammation were absent and the mucosa around the second molar appeared clinically normal. Pulp tests for the second molar were positive. The evaluation of the panoramic radiograph did not revealed radiolucency. The Cone-beam tomography showed a well-defined semilunar-shaped radiolucency demarcated by a fine radiopaque line. The cyst was enucleated. The histopathologic analisys revealed the presence of hyperplastic, non-keratinized squamous epithelium with heavy, dense inflammatory cell infiltrate in the epitelium and connective tissue wall. This analysis associated with macroscopic, clinical and radiografic examination confirmed the diagnosis of paradental cyst. A clinic-pathologic correlation, incorporating the surgical, radiographic and histologic findings, is required to obtain the final diagnosis of paradental cyst. Today, the treatment of choice is simple enucleation and thorough curettage of the cyst without extraction of the involved tooth, but if CT demonstrates erosions in the buccal or lingual cortices, marsupialization should be the treatment of choice.
Hegde, S; Jain, M; Shubha, A B
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.
Full Text Available The occurrence of malignancies in somatic elements of mature cystic teratoma of ovary is rare. The malignancies that may be encountered in dermoid cyst include squamous cell carcinoma, adenocarcinoma, adenosquamous carcinoma, melanoma, sarcoma, carcinoid, and germ cell neoplasms. The development of transitional cell carcinoma (TCC in dermoid cyst is extremely rare with only four such cases having been reported in literature so far. Here we report the fifth case of such an occurrence in a 50-year-old postmenopausal multiparous female patient. She presented with pain and gradual swelling of abdomen for 1 month. Abdominal computed tomography revealed a solid space occupying lesion with few cystic components at right pelvis, raising the possibility of an ovarian neoplasm. The level of CA-125 was slightly raised (56∙45 U/ml. Total abdominal hysterectomy and bilateral salpingo-oopherectomy was performed. Microscopic examination showed cyst wall lined by stratified squamous epithelium. Beneath the cyst wall, a tumor mass was present, histological features of which resembled that of high-grade TCC (stage pT1aNXMX. On immunohistochemical analysis, the tumor was found to be positive for CK7 and CK20 and negative for WT-1. These results were consistent with a diagnosis of TCC arising in urothelium of mature cystic teratoma. Reporting of such extremely rare cases is important for the assessment of prognostic factors and treatment protocols.
Ammirati, Enrico; Manassero, Alberto; Giammò, Alessandro; Marson, Francesco; Gurioli, Alberto; Carone, Roberto
Primary female bladder neck obstruction is a rare clinical condition characterized by the absence/incomplete bladder neck opening during the voiding phase of micturition. We present the cases of two women complaining dysuria, abdominal straining and sensation of incomplete bladder emptying. Videourodynamic evaluation was fundamental for a correct diagnosis. Videourodynamic evaluation showed a high detrusor pressure during emptying phase, partial use of abdominal strain, very low urine flow rate and significant postvoid residual; imaging showed a defect in the physiological funneling of the bladder neck, absent or incomplete. The first step therapy is represented by oral alpha-blockers and clean intermittent self-catheterization in case of high postvoid residual. Surgical operations, such as bladder neck incision and resection, represent the last option. In our experience, bladder neck obstruction is a rare condition in women and only a complete clinical evaluation associated with videourodynamic study can lead to an appropriate diagnosis and treatment.
Mahesh K Goenka
Full Text Available Context Spontaneous rupture of the bile duct, although rare, has been described as a known surgical cause of jaundice in infancy after biliary atresia. Case report This article describes a four-year-old girl who presented with severe abdominal pain and features suggestive of acute pancreatitis, who developed gradual distension of the abdomen, and was found to have a ruptured bile duct, producing biliary peritonitis. She was managed with laparoscopic drainage of the peritoneal cavity. However, in view of the persistent biliary drainage, an ERCP was performed followed by stent placement for a bile duct leak. She was subsequently diagnosed as having a choledochal cyst. Conclusion A high index of suspicion, appropriate investigation, such as MRCP, combined with early drainage can help in reaching an early diagnosis, and reduced morbidity and mortality in this rare disorder.
Ahn, Seong-Ki; Hur, Dong Gu; Jeon, Sea-Yuong; Park, Jung Je; Kang, Hung-Soo; Park, Ki-Jong
Ipsilateral facial palsy (FP) of the peripheral-type can result from lesions involving the inferomedial tegmentum of the pons. However, cases of a medullary lesion with peripheral-type FP have rarely been reported. The authors experienced an 83-year-old man with a pontomedullary infarction who presented with ipsilateral peripheral-type FP. Brain diffusion MRI revealed a hyper-intense signal on the left dorsolateral portion of the upper medulla and pontomedullary junction. This case suggests that clinicians should take into account the possibility of a central lesion and brainstem infarction, even when patients present with peripheral-type FP.
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.
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
Full Text Available : Air leak syndromes are a group of clinically recognizable disorders produced by alveolar rupture and subsequent escape of air in to the tissue in which air is not normally present. All the clinical types of air leak syndrome originate in over distended alveoli, which ultimately rupture. Over distention is because of spontaneous vigorous respirations (usually larger term babies at birth, increased pressure of mechanical ventilator (PEEP, PIP vigorous Cardio Pulmonary resuscitation, air trapping in the presence of a ball valve mechanism, most of this air leaks occur spontaneously, but incidence increases with ventilator support, in some cases of collagen vascular diseases and associated renal problems.1 But in our study spontaneous pneumopericardium with air embolism a rare presentation and spontaneously recovered and followed up to one year. Timely radiological investigations including x-rays, USG chest, and ultra sound guided drainage of pneumopericardium with help of radiologist, play an important role in the management preventing morbidity and mortality.
Joshi, Jitesh; Rustagi, Tarun
Background: Gastrointestinal stromal tumors (GISTs) rarely develop outside the digestive tract and such tumors are designated extra-GISTs (EGISTs). The majority of EGISTs are located in the mesentery, omentum, and retroperitoneum, and the primary localization in the pancreas has been reported in only about six cases. We describe a patient with a large metastatic pancreatic EGIST that had metastasized to the liver at time of presentation. Case: An 84-year-old male presented with worsening confusion and agitation for the past few days. He also reported progressively increasing abdominal distension for the past 3 years, more so in the past few months. He denied any abdominal pain, nausea, or vomiting. He mentioned one episode of melena 2 months ago. There was a history of unintentional weight loss of 30 pounds over the past few months. Review of systems was otherwise negative. Past medical history was significant for diabetes mellitus and lactose intolerance. Pertinent examination findings included a cachectic appearance, altered mentation without any focal neurologic deficit, and marked abdominal distension with dullness on percussion. Investigations were significant for elevated ammonia level (168 ug/dL), AST/ALT/Alk. phosphatase (424/153/102 U/L), and total bilirubin of 1.7 mg/dL. CEA and CA19-9 were within normal limits. Computed tomography (CT) scan of the abdomen showed an extremely large central heterogeneous mass of 34 × 24 × 27 cm replacing the entire pancreatic tissue and multiple hepatic metastases. Subsequently, a CT-guided liver biopsy demonstrated a spindle cell neoplasm with CD117 (c-kit), CD34, and vimentin-positive cells, consistent with liver metastasis from an EGIST. On day 3, he had massive hematemesis, for which he was transferred to the intensive care unit. His condition rapidly deteriorated with hemodynamic instability and further worsening of mental status. After a thorough discussion about treatment options and prognosis, his family
Perić, Zinaida; Kardum-Skelin, Ika; Puskarić, Biljana Jelić; Letilović, Tomislav; Vrhovac, Radovan; Jaksić, Branimir
Gaucher's disease (GD) has variable presentations, but cardiac involvement is a generally uncommon clinical manifestation of the disease. In the past 25 years, the underlying genetic disorder in GD has been well characterized, with almost 300 mutations identified in the glucocerebrosidase gene (GBA). Nevertheless, clear genotype-phenotype correlations have been confirmed only for the most frequent mutations. We present a female patient, who was known to have aortic valve pathology from the age of 30. Despite medical follow up, at the age of 60 she presented with heart failure (NYHA III). At that time echocardiography showed severe fibrosed aortic valve stenosis. Valvuloplasty was planned, when thrombocytopenia, previously considered to be autoimmune, became severe. Anemia and leukopenia were also noted. Moderate splenomegaly and severe bone marrow infiltration were found on MRI. Bone marrow aspiration revealed typical Gaucher cells and the enzyme activity assay confirmed the diagnosis. DNA investigation showed that the patient is homozygous for the G377S mutation. To our knowledge, of all mutations identified so far, only homozygosity for the D409H mutation has been associated with cardiovascular valvular disease in patients with a rare type 3c GD. G377S, found in our patient, is a rare mutation, previously reported as a 'mild' mutation, because of the finding that homoallelic patients were essentialy asymptomatic or had mild disease. Our patient, also homozygous for G377S mutation, had a severe form of type 1 GD, with rare cardiac valve involvement, which is a previously unreported clinical presentation for this mutation. This case further proves that patients with the same genotypes can have different phenotypes, emphasizing the influence of other genetic and/or environmental factors.
P.G. Casali (Paolo); P. Bruzzi (P.); J. Bogaerts (Jan); J-Y. Blay (Jean Yves); M. Aapro (Matti); A. Adamous; A. Berruti (Alfredo); J. Bressington; B. Bruzzi; R. Capocaccia (Riccardo); F. Cardoso (Fatima); J.E. Celis; A. Cervantes (Andres); F. Ciardiello; C. Claussen; M. Coleman; S. Comis; S. Craine; D. De Boltz; F. De Lorenzo; A.P. Dei Tos (Angelo); G. Gatta (Gemma); J. Geissler (Jan); R. Giuliani; E. Grande (Enrico); A. Gronchi (Alessandro); S. Jezdic; B. Jonsson; L. Jost; H. Keulen; D. Lacombe (Denis); G. Lamory; Y. Le Cam; S. Leto di Priolo; L. Licitra; F. Macchia; A. Margulies; S. Marreaud (Sandrine); G. McVie; S. Narbutas; K. Oliver; N. Pavlidis; J. Pelouchova; G. Pentheroudakis; M.J. Piccart (Martine); M. Pierotti (Marco Alessandro); G. Pravettoni; K. Redmond; P.H.J. Riegman (Peter); M.P. Ruffilli; D. Ryner; S. Sandrucci; M. Seymour; V. Torri (Valter); A. Trama; S. van Belle (S.); G. Vassal; M. Wartenberg; C. Watts; A. Wilson; W. Yared
textabstractWhile they account for one-fifth of new cancer cases, rare cancers are difficult to study. A higher than average degree of uncertainty should be accommodated for clinical as well as for population-based decision making. Rules of rational decision making in conditions of uncertainty shoul
Full Text Available Electrolyte imbalance always poses challenging situations to the attending intensivists, particularly if it is associated with endocrinopathies and other comorbidities. One such rare clinical scenario is hypokalemic periodic paralysis (HPP due to hyperthyroidism. The epidemiology of such a condition is slightly higher among males of Asian origin as compared to its universal occurrence. The diagnostic challenges in this clinical situation can lead to higher morbidity if timeliness is compromised from the presentation to active management. Moreover, atypical presentation of this pathologic condition further compounds the problem if it is associated with overt hyperthyroidism. Here, we report a unique case that presented to the emergency medicine department of our institute with weakness of all the four limbs and in which we faced all the diagnostic and management challenges as the clinical condition of hypokalemia was somehow dominated by overt hyperthyroidism.
Full Text Available Nasopharyngeal carcinoma (NPC has a diverse incidence pattern but remains a rare tumour in the pediatric age group. Childhood nasopharyngeal carcinoma usually presents in the second decade of life. Paediatric NPC cases present a diagnostic challenge due to the high prevalence of common NPC presenting symptoms of nasal obstruction, serous otitis media and hearing problems among children. Furthermore, adenoid tissue is most often present, and a biopsy in an outpatient setup would be difficult. However, trismus on initial presentation is uncommon, and even in adults is a therapy related complication. As such, surgeons should have a high index of suspicion in NPC endemic areas, and a lower threshold for imaging in these cases as overall outcome appeared to be similar between adult and childhood NPC.
Full Text Available Hereditary Haemorrhagic Telangiectasia (Osler-Rendu-Weber disease is a rare autosomal dominant disorder commonly a ecting small vessels of skin and mucosa. It is usually misdiagnosed because of its atypical presentation. This disease frequently presents as epistaxis, GI bleed and visceral arterio venous malformations. Patient may present with stroke or migraine but presentation due to predominant respiratory symptoms may occur in the presence of pulmonary A-V stula. We present a 9 yr old male with dyspnoea on exertion and cyanosis and clubbing. He had a past history of intracerebral bleed with thrombocytopenia and he was being treated as ITP. Contrast echo revealed ndings suggestive of pulmonary arterio venous stula which led to subsequent investigations and retrospective evaluation and hence achieving the final diagnosis.
Full Text Available Preseptal cellulitis has a typically benign course when treated with antibiotics, the clinical course depending on age of the patient, aetiology and the causative organism. In this study, 14 cases of preseptal cellulitis are documented with the age ranging from 2 to 55 years. The organisms isolated were Staphylococcus aureus (7 cases, Streptococcus pyogenes (2 cases and Pseudomonas aeruginosa (1 case. In the remaining four patients no organism could be identified. All except four patients were cured within 6 weeks. Complications seen included lagophthalmos, lid abscess, cicatricial ectropion and lid necrosis in one patient each. The prognosis for preseptal cellulitis is good with appropriate antibiotics and surgical therapy.
李俊杰; 梁沛杨; 罗北京
Objective: To make a clinical analysis on the basis of 36cases of atypical genital herpes (GH) patients. Methods: Thirty-six cases of atypical GH were diagnosedclinically, and their case histories, symptoms and signs wererecorded in detail and followed up. Polymerase chain reaction(PCR) was adopted for testing HSV2-DNA with cotton-tippedswabs. Enzyme-linked immuno sorbent assay (ELISA) forserum anti-HSV2-IgM was done to establish a definfiivediagnosis. Other diagnoses were excluded at the same time bytesting for related pathogens including fungi, Chlamydia,Mycoplasma, Treponema pallidum, gonococci, Trichomonas,etc. Results: The main clinical manifestations of atypical GHwere: (1) small genital ulcers; (2) inflammation of urethralmeatus; (3) nonspecific genital erythema; (4) papuloid noduleson the glands; (5) nonspecific vaginitis. Twenty-three cases(64%) tested by PCR were HSV2-DNA sera-positive, and 36cases (100 %) anti-HSV2-IgM sera-positive by ELISA. Conclusion: atypical HSV is difficult to be diagnosed. Butthe combination of PCR and ELIAS will be helpful to thediagnosis of atypical HSV.
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 narration of the development of staff, infrastructure and buildings in the various parts of the country is given in this paper. The role of universities and other institutions of learning, public health, palliative care, nuclear medicine and cancer registries is described together with the networking that has been developed between the government, non-governmental organisations and private hospitals. The training of skilled manpower and the commencement of the Master of Clinical Oncology in the University of Malaya is highlighted. Efforts taken to improve the various aspects of cancer control which includes prevention of cancer, early detection, treatment and palliative care are covered. It is vital to ensure that cancer care services must be accessible and affordable throughout the entire health system, from the primary care level up to the centres for tertiary care, throughout the whole country.
Maciel, Marina Gagheggi; Enokihara, Milvia Maria Simões e Silva; Seize, Maria Bandeira de Melo Paiva; Marcassi, Aline Pantano; Piazza, Christiane Affonso De Donato; Cestari, Silmara da Costa Pereira
Elastoma is a connective tissue nevus characterized by changes in elastic fibers. It can be congenital or acquired, and is usually diagnosed before puberty. Associated with osteopoikilosis, it is known as Buschke-Ollendorff syndrome. Histopathology with specific staining for elastic fibers is critical for a diagnostic conclusion. This report describes the case of a 7-year-old male patient with lesions diagnosed as elastoma, with absence of bone changes in the radiological imaging. This study aims to report the clinical presentation and histological examination of such unusual disease.
Sarkar, Santanu; Panja, Soumyajyoti; Bandyopadhyay, Arghya; Roy, Shreosee; Kumar, Sandeep
Rhinosporidiosis is a chronic granulomatous infection caused by Rhinosporidium seeberi. Sporadic cases of rhinosporidiosis has been reported from many countries but is endemic in Southern India (Madurai, Ramnad, Rajapalayam and Sivaganga), Nepal, Bangladesh and Sri Lanka. This disease commonly affects the mucous membrane of the nose or naso-pharynx and presents as a leafy, polypoidal mass. The reported extranasal sites include the oro-pharynx, eye, ear, larynx, trachea, bronchi, skin and genital mucosa. It may also become disseminated to present as a generalized form. In our case a 40-year-old female from rural West Bengal (Eastern India) presented with right sided facial swelling. Our provisional diagnosis was parotid duct cyst on the basis of careful history, scrupulous clinical examination and relevant investigations comprising CECT scan of face. Although Rhinosporidiosis was not taken into consideration in the clinical differential diagnosis, it was eventually diagnosed postoperatively by histopathological examination of surgical specimen. Two months later in follow-up, the same patient presented to us with left sided facial swelling. We managed the left facial swelling successfully with minimally invasive surgery and 100mg twice daily dapsone for 6 months. We present this case firstly because Rhinosporidiosis of parotid duct (stensen's duct) is a rare entity and secondly non-neoplastic cysts of the salivary glands are also uncommon and represent only 2-5% of all salivary gland lesions. Furthermore our case emphasizes that the clinicians should aware of this rare clinical entity specially in endemic areas, because minimally invasive techniques and medications might solve the problem while helping patients to avoid surgical excision.
Sabetay, C; Zavate, A; Ciuca, M; Ciobanu, O; Malos, A
The neonatal obstacle caused by a pre-pyloric diaphragm represent a rare cause of high oclusion in new-born. We present the case of a 6 days old new-born admitted in our department for nonbilious vomiting and feeding intolerance in which the clinical exam and the imagistic explorations (plain and contrast abdominal X-Rays, and ultrasound) could not reveal an evident cause for the oclusion. The surgical intervention imposed by the simptoms revealed the existece of a complete diaphragm in the prepyloric region. The initial excision of the diaphragm was not sufficient, the patient undergoing a second surgical intervention of gastrojejunal anastromosis with favorable evolution this time. The authors are presenting diagnosis and theraputical management peculiarities of this rare condition.
Jain, Shilpa; Jain, Ankur; Onizuka, Neil; Boukhar, Sarag A
Medullary carcinoma is a recently recognized rare subtype of colorectal cancer resembling both poorly differentiated adenocarcinoma and neuroendocrine tumors. Medullary carcinoma most commonly presents in the proximal colon and can be differentiated from other right-sided malignant lesions by histology and immunochemical markers. We present here a rare case of an adult patient with rectal bleeding who was found to have an intussusception due to underlying medullary carcinoma of the splenic flexure. A 72-year-old woman presented to our GI clinic with rectal bleeding. Colonoscopy revealed a necrotic mass of the sigmoid colon, later determined by CT to be a colo-colonic intussusception at the level of the splenic flexure. Patient underwent diagnostic laparoscopy with findings of a large splenic flexure mass, which was resected and found to be medullary carcinoma of the colon. The tumor was poorly differentiated and exhibited microsatellite instability but was discovered at an early stage and thus did not require any adjuvant chemotherapy. Unlike most previously reported cases of medullary carcinoma, our patient presented with a left sided tumor. To our knowledge, this is the first report of a medullary colon cancer presenting with intussusception.
Uğraş, Nesrin; Tolunay, Şahsine; Öz Atalay, Fatma; Gökgöz, Şehsuvar
Phyllodes tumors are uncommon biphasic fibroepithelial neoplasms of breast, comprising less than 1% of all breast neoplasms. We therefore aimed to present the case with its microscopic findings. In this article, we report a 59-year-old female admitted to the general surgery department with a rapidly, enlarging, palpable mass in right breast. After histopathological examination, it was diagnosed as borderline phyllodes tumor with extensive squamous metaplasia. Metaplastic changes are infrequent in the stromal and epithelial component of these tumors. Extensive squamous metaplasia within phyllodes tumor is rare and may occur in benign, borderline and malign subtypes.
Patterson-Fortin, Jeffrey; Kohli, Anita; Suarez, Maria J; Miller, P Elliott
Ocular Lyme borreliosis is a rare manifestation of Lyme disease. We describe a case of an 80-year-old woman who presented with a 1-month history of unilateral painless central vision loss. Based on a temporal artery biopsy, she was initially diagnosed with giant cell arteritis and treated with a 3-day course of high-dose intravenous steroids. A more detailed history uncovered multiple previous treatments for Lyme disease and residence in an endemic Lyme area. The patient was subsequently diagnosed with ocular Lyme borreliosis and treated with intravenous antibiotics. After 5 weeks of treatment, unilateral vision loss did not progress and optic disc oedema resolved.
Subasinghe, Duminda; Keppetiyagama, Chathuranga Tisara; Sudasinghe, Hemantha; Perera, Niranthi; Skandarajah, Thurairajah; Sivaganesh, Sivasuriya
Pancreatic desmoplastic small round cell tumour (DSRCT) is an extremely rare malignancy of which very few reports exist. It follows an aggressive course and has a dismal prognosis. A twenty-four-year-old male presented with a one-month history of rapidly progressive obstructive jaundice associated with abdominal pain suggestive of a biliary colic. Contrast-enhanced CT (CECT) of the abdomen revealed a pancreatic head mass. He underwent a pancreaticoduodenectomy and adjuvant chemotherapy and is disease free one year after surgery. This is the first reported case of a pancreatic head DSRCT, discovered in a young male investigated for a short history of painful obstructive jaundice.
Full Text Available Carbon monoxide poisoning during pregnancy is a rare and potentially serious condition. Fetal complications are uncommon, related to anoxic lesions. The severity of these complications does not depend on the level of maternal COHb. We report the case of a 22-year-old pregnant woman who at 30 weeks of gestation had carbon monoxide poisoning secondary to a fire in her home, complicated by cardiac arrest and severe fetal damage. The child had not brain damage, but presented bladder lesions not previously described, with urinary ascites complicating megacystis.
Ibrahim, Uroosa; Asti, Divya; Saqib, Amina; Mudduluru, Bindu Madhavi; Ayaz, Sadaf; Odaimi, Marcel
A case of pancreatic adenocarcinoma diagnosed following work up for eosinophilia is reported. A 68-year-old female was referred to our Hematology clinic for an absolute eosinophil count of 1869 per microliter. No allergic signs or symptoms were reported. Laboratory studies for parasitic infestations autoimmune disease and collagen vascular disease were negative. Computed tomography of the abdomen revealed a mass in the neck of the pancreas with fine needle aspiration biopsy consistent with adenocarcinoma. The patient received one cycle of modified FOLFIRINOX with complete resolution of the eosinophilia. There are rare case reports of tumor-associated blood eosinophilia in solid malignancies. The finding may be indicative of rapid disease progression and poor prognosis. Our case is the third in published English literature with eosinophilia being the initial finding in pancreatic cancer.
Full Text Available Neurotoxins have existed on the earth from times immemorial. Old neurotoxic disorders were due to ingestion/ exposure of heavy metals and food like lathyrus sativus over a long period of time. The 20th Century with rapid industrialsation and expanding chemical and drug industry has spawned several new, hitherto unknown disorders. Old disorders continue to exist e.g. fluorosis, arsenicosis, lathyrism, manganism and lead neuropathy, along with new diseases like Minamata disease, subacute myelo optic neuropathy (SMON, MPTP-Parkinsonian syndorme, triorthcresyl phosphate (TOCP neuroparalytic disease, pesticide induced seizures, tremor and neuropathy, solvent encephalopthy, antipileptic drug foetal syndrome and excitotoxin induced behavioural disorders. Studies on pesticides Organochlorine and organophosphates, synthetic pyrethrins, solvents, heavy metals and substances abuse in the Indian context confirm the neurotoxic nature of many synthetic substances. Future problems envisaged are of concern to clinical neurologists as many of these neurotoxic disorders mimic syndromes of well known neurological disease. The new millenium poses a challenge to the clinician as newer compounds in industry, food, drugs and chemical war agents are being developed. Molecular genetics has advanced rapidly with release of the human genome map. Animal cloning and genetically modified plant products have entered the food chain. How safe are these new inventions for the central nervous system is a big question? India cannot afford disasters like Union Carbide′s Bhopal gas leak nor be a silent spectator to manipulative biotechnology. Unless it is proven beyond all doubt to be a safe innovation, Chemicals have to be cautiously introduced in our environment. To Study, ascertain and confirm safety or neurotoxicity is an exciting challenge for the neuroscientists of the 21st century.
Srivastava, Madhur Kumar; Govindarajan, Krishna Kumar; Chakkalakkoombil, Sunitha Vellathussery; Halanaik, Dhanapathi
Renal masses account for 55% of cases presenting as palpable abdominal mass in children. 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..
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.
Ramnarayan, Bk; Maligi, Pm; Smitha, T; Patil, Us
Amalgam or its components may cause Type IV hypersensitivity reactions on the oral mucosa. These amalgam contact hypersensitivity lesions (ACHL) present as white striae and plaques, erythematous, erosive, atrophic, or ulcerative lesions. Postinflammatory pigmentation in such lesions and pigmentation due to amalgam incorporation in the soft tissue have been reported in the literature. However, ACHL presenting primarily as a black pigmented lesion is extremely rare if not reported. The clinician should be aware of one such presentation of ACHL; we report a unique case of ACHL in a 30-year-old female with such a pigmented lesion in close contact with amalgam restorations. The lesion regressed considerably in a year after replacement of the restoration with posterior composites.
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.
Agbor, Valirie Ndip; Njim, Tsi; Aminde, Leopold Ndemnge
Inguinal hernias in women of reproductive age containing the ovary are very rare. When they occur in this age group, they are mostly associated with malformations of the urogenital system. Prompt surgical intervention is the key to ensure survival of the ovary. Here we present a case of an ectopic ovary presenting like an acute appendicitis. A 16-year-old Cameroonian girl presented at our emergency service with an acute exacerbation of a mild and intermittent right iliac fossa pain of 5 days' duration. A clinical examination revealed android obesity and signs suggestive of an acute appendicitis. An abdominopelvic ultrasound scan showed an edematous right ovary in the canal of Nuck. A prompt hernia repair was done and her postoperative period was uneventful. An ectopic inguinal ovary remains a rare occurrence. An urgent and careful exploration of the hernia sac is the standard of care. Careful physical examination of obese girls and women is vital particularly in emergency settings, as obesity in our patient contributed greatly to a missed diagnosis. Clinicians should potentially consider the possibility of an ectopic ovary when faced with girls and women presenting with right iliac fossa pain.
Jha, Tulika; Bardhan, Jayati; Das, Bibekananda; Patra, Kajal Kumar; Dhali, Badal; Seth, Shelley
Meckel-Gruber syndrome is an inherited genetic disorder of unknown aetiology. It is an autosomal recessive condition and its incidence is as rare as 1:13,250 to 1:140,000. Some population show an increased incidence of this condition eg, Finnish and Gujarati Indians. Since the time it was first reported by Meckel in 1822 and subsequently by Gruber in 1934, only 200 cases have been reported. Here the case was diagnosed antenatally by an ultrasound and termination of the pregnancy at an early stage was done as per the wishes of the parents. This interesting and rare case of Meckel-Gruber syndrome is reported here.
Functional or psychogenic movement disorders are common and disabling, and sometime difficult to diagnose. The history and physical exam can give positive features that will support the diagnosis, which should not be based solely on exclusion. Some clues in the history are sudden onset, intermittent time course, variability of manifestation over time, childhood trauma, history of other somatic symptom and secondary gain. Anxiety and depression are common, but not necessarily more than the general population. On examination, distraction and suggestibility may be present. There are specific signs that should be looked for with different types of movements. For example, with tremor, change in frequency over time and entrainment are common features. With myoclonus, the movements might be complex in type with long latencies to stimulus induced jerks. Gait disorders show good balance despite claims to the contrary. Functional dystonia still remains a challenging diagnosis in many circumstances, although fixed dystonia is one sign more likely to be functional.
Md Zillur Rahman
Full Text Available Verrucous carcinoma is a variant of squamous cell carcinoma. It is of low grade malignancy and rarely present with distant metastasis. Oral cavity is the commonest site of this tumor, other sites are larynx, oesophagus, and genitalia. Verrucous carcinoma in external auditory canal is extremely rare. This is the presentation of a 45-year-old woman who came to the ENT and Head Neck Surgery department of Delta Medical College with discharg from left ear and impairment of hearing on the same side for 7 years. Otoscopic examination showed that the skin of external auditory canal was thickened, papillary and blackish. External auditory canal bone was found eroded. Cytology from external auditory canal scrap showed hyperkeratosis and parakeratosis. Excision of the external auditory canal mass was done under G/A. Whole skin from external auditory canal was excised under microscope. Split thickness skin grafting was done in external auditory canal. The specimen was sent for histopathological examination which revealed as verrucous carcinoma. Subsequently, she was treated by radiotherapy. Six months follow-up shows no recurrence.
Dilber Ayçiçek Çeçen
Full Text Available Background. Primary spinal dural lymphomas (PSDL are tumors with characteristic histopathology of a lymphoma, which are completely in the spinal epidural space without any other systemic involvement. Extranodal primary lymphoma involving nervous system prefers thalamus/basal ganglia, periventricular region, cerebellum, eyes, meninges/dura, and cranial nerves or spinal cord. Rare spinal localization with acute spinal cord compression is worth attention. Case Presentation. A 48-year-old male presented with a several-month-long history of upper back pain. Lately, he had numbness and weakness at both lower extremities and was unable to walk for one week. A spinal MRI showed a thoracic lesion with cord compression at T2–T4 levels. The patient underwent surgical decompression, with his final histopathology showing diffuse large B-cell lymphoma. Systemic work-up was negative for nodal disease. Following surgery, he received radiotherapy combined with chemotherapy. He experienced a good outcome after four years. Conclusion. The upper thoracic cord is a rare location for primary spinal lesions/metastases, both of which prefer the lower thoracic and upper lumbar regions. In cases of progressive paraparesis, there should be immediate surgical intervention in the case of denovo disease, followed by combined radiotherapy and chemotherapy procedures.
Full Text Available Valeska Albuquerque Francesconi,1 Ana Paula Klein,2 Ana Paula Botelho Gualda Santos,2 Rajendranath Ramasawmy,3 Fábio Francesconi4 1Department of Dermatology, Tropical Medicine Foundation Heitor Vieira Dourado, Manaus, Amazonas, Brazil; 2Amazon Federal University, Manaus, Amazonas, Brazil; 3Department of Immunogenetics, 4Department of Dermatology, Tropical Medicine Foundation Heitor Vieira Dourado, Manaus, Amazonas, Brazil Abstract: Lobomycosis is a subcutaneous mycosis of chronic evolution caused by the Lacazia loboi fungus. Its distribution is almost exclusive in the Americas, and it has a particularly high prevalence in the Amazon basin. Cases of lobomycosis have been reported only in dolphins and humans. Its prevalence is higher among men who are active in the forest, such as rubber tappers, bushmen, miners, and Indian men. It is recognized that the traumatic implantation of the fungus on the skin is the route by which humans acquire this infection. The lesions affect mainly exposed areas such as the auricles and upper and lower limbs and are typically presented as keloid-like lesions. Currently, surgical removal is the therapeutic procedure of choice in initial cases. Despite the existing data and studies to date, the active immune mechanisms in this infection and its involvement in the control or development of lacaziosis have not been fully clarified. In recent years, little progress has been made in the appraisal of the epidemiologic aspects of the disease. So far, we have neither a population-based study nor any evaluation directed to the forest workers. Keywords: infection, Lacazia loboi, lobomycosis, lacaziosis, mycosis
Full Text Available Ureterocele, while not an uncommon pediatric urologic problem, has been reported only rarely in adults. Adult bilateral ureteroceles with calculi is an uncommon and well tolerated, relatively rare clinical entity. Although ureteroceles in adults are usually asymptomatic, various symptoms tend to appear in ureteroceles with stones, such as flank pain, urinary tract infections and bladder irritability. While ureteroceles occur more commonly in women, stones in ureteroceles tend to be more common in men. Most ureteroceles can be safely managed transurethrally endoscopically which is generally well tolerated by most patients. We present an unusual clinical presentation of bilateral adult non-obstructing ureteroceles containing urinary stones.
Malhotra, Gurveen; Chua, Serafin; Kodumuri, Vamsi; Sivaraman, Sivashankar; Ramdass, Priya
Systemic lupus erythematosus is an autoimmune disease with diffuse organ involvement. The cardiac complications include pericarditis, myocarditis, pulmonary hypertension, coronary vasculitis, and Libman-Sacks endocarditis. Symptomatic lupus myocarditis presenting with left ventricular dysfunction, acute heart failure, and pulmonary edema, although rare, is a life-threatening complication. We report the occurrence of acute lupus myocarditis in a 38-year-old postpartum female who had a cesarean section a week before presentation for preeclampsia. Initially she was managed for pneumonia but later found to have acute pericarditis and myocarditis related to systemic lupus erythematosus. She had a complicated hospital course including acute respiratory failure and cardiogenic shock. She was started on pulse dose steroids besides the treatment for heart failure and had a dramatic improvement within days.
Rao, D Sheshagiri; Barik, Ramachandra
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.
Sawant, Ajit; Bansal, Sumit; Pawar, Prakash; Kasat, Gaurav
Abdominal wall metastasis from urothelial cancer is extremely rare and very few such cases have been reported in the literature. As such the treatment protocols are not so well defined. We present an interesting case of a 65-year-old male patient, known case of chronic kidney disease, who presented with a large, fungating infraumbilical mass 8 months postradical cystectomy. The mass involved full thickness anterior abdominal wall and small bowel including the ileal conduit. Wide excision of the mass along with adhered bowel loops and partial excision of the ileal conduit with right ureteric reimplant was performed. The large defect in the anterior abdominal wall was closed using a mesh (permanent with a bioresorbable coating inside) and myocutaneous thigh flap. The histopathological examination of the excised mass was consistent with secondary from the urothelial tumor.
Full Text Available Abdominal wall metastasis from urothelial cancer is extremely rare and very few such cases have been reported in the literature. As such the treatment protocols are not so well defined. We present an interesting case of a 65-year-old male patient, known case of chronic kidney disease, who presented with a large, fungating infraumbilical mass 8 months postradical cystectomy. The mass involved full thickness anterior abdominal wall and small bowel including the ileal conduit. Wide excision of the mass along with adhered bowel loops and partial excision of the ileal conduit with right ureteric reimplant was performed. The large defect in the anterior abdominal wall was closed using a mesh (permanent with a bioresorbable coating inside and myocutaneous thigh flap. The histopathological examination of the excised mass was consistent with secondary from the urothelial tumor.
Alok Kumar Tiwari
Full Text Available Diverticulosis is rare in jejunum and its unusual presentation of mechanical obstruction is difficult to diagnose pre-operatively. We report a case of a 54-year old male patient who had symptoms of general abdominal pain and vomiting off and on for three years. He had been assessed elsewhere and had received a course of anti-tubercular treatment empirically based on features of recurrent intestinal obstruction due to prevalence of tuberculosis in this region. The patient had presented himself with signs and symptoms of dynamic intestinal obstruction. On examination, the abdomen was found to be swollen with a central abdominal distension and hyperactive bowel sounds. The erect abdominal radiograph showed multiple air-fluid levels and dilated jejunal loops. Following this, the patient underwent an emergency exploratory laparotomy. This revealed multiple jejunal diverticulae, multiple bands and adhesions involving jejunum and proximal ileum. The bands and adhesions were removed and the jejunum was resected along with the inflamed diverticulae.
Khatib, Yasmeen; Dande, Madhura; Patel, Richa D; Gite, Vinod
Vascular malformations (VMs) are structural malformations of vascular development causing soft tissue abnormality with functional and esthetic impairment. They are named by their predominant vessel type as arterial, venous, lymphatic or mixed types. VMs of the parotid gland are extremely rare and constitute a distinct entity of parotid pathology that requires specific diagnostic tools and management. Till 2013, only fifty cases of VMs of the parotid have been described in the literature. We present a case of a venolymphatic malformation of the parotid gland extending into the parapharyngeal space in a 21-year-old male who presented with a swelling on the left side of the face extending into the neck. Diagnosis was suggested by ultrasonography and computed tomography scan and was confirmed by magnetic resonance imaging examination. Complete surgical excision of the lesion was done with a favorable outcome. Diagnosis was confirmed based on histopathology and immunohistochemical studies. PMID:27601828
Full Text Available Vascular malformations (VMs are structural malformations of vascular development causing soft tissue abnormality with functional and esthetic impairment. They are named by their predominant vessel type as arterial, venous, lymphatic or mixed types. VMs of the parotid gland are extremely rare and constitute a distinct entity of parotid pathology that requires specific diagnostic tools and management. Till 2013, only fifty cases of VMs of the parotid have been described in the literature. We present a case of a venolymphatic malformation of the parotid gland extending into the parapharyngeal space in a 21-year-old male who presented with a swelling on the left side of the face extending into the neck. Diagnosis was suggested by ultrasonography and computed tomography scan and was confirmed by magnetic resonance imaging examination. Complete surgical excision of the lesion was done with a favorable outcome. Diagnosis was confirmed based on histopathology and immunohistochemical studies.
Full Text Available Red blood cells carry oxygen in the body and Glucose-6-Phosphate Dehydrogenase protects these cells from oxidative chemicals. If there is a lack of Glucose-6-Phosphate Dehydrogenase, red blood cells can go acute hemolysis. Convulsion is a rare presentation for acute hemolysis due to Glucose-6-Phosphate Dehydrogenase deficiency. Herein, we report a case report of a Glucose-6-Phosphate Dehydrogenase deficiency diagnosed patient after presentation with convulsion. A 70 year-old woman patient had been hospitalized because of convulsion and fatigue. She has not had similar symptoms before. She had ingested fava beans in the last two days. Her hypophyseal and brain magnetic resonance imaging were normal. Blood transfusion was performed and the patient recovered.
Hoenig, Manfred; Lagresle-Peyrou, Chantal; Pannicke, Ulrich; Notarangelo, Luigi D; Porta, Fulvio; Gennery, Andrew R; Slatter, Mary; Cowan, Morton J; Stepensky, Polina; Al-Mousa, Hamoud; Al-Zahrani, Daifulah; Pai, Sung-Yun; Al Herz, Waleed; Gaspar, Hubert B; Veys, Paul; Oshima, Koichi; Imai, Kohsuke; Yabe, Hiromasa; Noroski, Lenora M; Wulffraat, Nico M; Sykora, Karl-Walter; Soler-Palacin, Pere; Muramatsu, Hideki; Al Hilali, Mariam; Moshous, Despina; Debatin, Klaus-Michael; Schuetz, Catharina; Jacobsen, Eva-Maria; Schulz, Ansgar S; Schwarz, Klaus; Fischer, Alain; Friedrich, Wilhelm; Cavazzana, Marina
Reticular dysgenesis (RD) is a rare congenital disorder defined clinically by the combination of severe combined immunodeficiency (SCID), agranulocytosis, and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 were identified to cause the disorder. Hematopoietic stem cell transplantation (HSCT) is the only option to cure this otherwise fatal disease. Retrospective data on clinical presentation, genetics, and outcome of HSCT were collected from centers in Europe, Asia, and North America for a total of 32 patients born between 1982 and 2011. Age at presentation was <4 weeks in 30 of 32 patients (94%). Grafts originated from mismatched family donors in 17 patients (55%), from matched family donors in 6 patients (19%), and from unrelated marrow or umbilical cord blood donors in 8 patients (26%). Thirteen patients received secondary or tertiary transplants. After transplantation, 21 of 31 patients were reported alive at a mean follow-up of 7.9 years (range: 0.6-23.6 years). All patients who died beyond 6 months after HSCT had persistent or recurrent agranulocytosis due to failure of donor myeloid engraftment. In the absence of conditioning, HSCT was ineffective to overcome agranulocytosis, and inclusion of myeloablative components in the conditioning regimens was required to achieve stable lymphomyeloid engraftment. In comparison with other SCID entities, considerable differences were noted regarding age at presentation, onset, and type of infectious complications, as well as the requirement of conditioning prior to HSCT. Although long-term survival is possible in the presence of mixed chimerism, high-level donor myeloid engraftment should be targeted to avoid posttransplant neutropenia. © 2017 by The American Society of Hematology.
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.
Introduction: Osteoradionecrosis (ORN) of the jaws is defined as exposed irradiated bone that fails to heal over a period of 3 months without the evidence of a persisting or recurrent tumor. In the previous decades, numerous factors were associated with the risk of ORN development and severity. Aims: The purposes of this study were to present the data of the patients that were treated for ORN in the Department of Oral and Maxillofacial Surgery in Munich (LMU), to detect factors that contributed to the onset of ORN, to identify risk factors associated with the severity of ORN and finally, to delineate and correlate these factors with the personal, health and treatment characteristics of the patients. Material and Methods: A retrospective study was conducted during the period from January 2003 until December 2012 that included all ORN cases having been treated in the Department of Oral and Maxillofacial Surgery in Munich (LMU). The total sample was categorized in three groups according to stage and several variables were evaluated in an attempt to identify possible correlations between them and the necrosis severity. Results: One hundred and fifty three cases of ORN were documented. Among them, 23 (15.1%) cases were stage I, 31 (20.2%) were stage II and 99 (64.7%) were stage III and all localised in the mandible. There was a predominance of the disease in the posterior region when compared to the anterior region. The majority of cases was addicted to alcohol and tobacco abuse and was suffering from Diabetes Mellitus (DM). All cases were treated with RT and 80.4% of them with concomitant chemotherapy. The initial tumor was predominantly located in the floor of the mouth, the tongue and the pharynx. Approximately two thirds of the cases occured either after dental treatment or due to a local pathological condition. Logistic regression analysis identified Diabetes Mellitus (OR: 4.955, 95% Cl: 1.965-12.495), active smoking (OR: 13.542, 95% Cl: 2.085-87.947), excessive
Dorwal, Pranav; Sachdev, Ritesh; Pande, Amit; Jain, Dharmendra; Jha, Bhawna; Raina, Vimarsh
Hepatosplenic T-cell lymphoma is a rare haematopoietic malignancy that comprises less than 1% of Non-Hodgkin lymphomas. We are reporting a case of a 26-year-old female, who presented with pallor, weight loss, jaundice, pancytopenia and hepatosplenomegaly. The bone marrow examination showed infiltration by lymphoid cells. These cells on flow cytometric evaluation showed the phenotype of hepatosplenic T cell lymphoma. The cells were positive for CD3, CD8, CD56 and TCR γδ and negative for CD5, CD4, CD8, CD16, CD57, TCRαβ along with B cell markers. This case is reported for being a rare clinical entity and its presence in an immunocompetent female making it rarer.
Full Text Available Pilomatricoma / Pilomatrixoma / Benign calcifying tumor of Malherbe is an uncommon tumor of hair matrix origin , most commonly occurs in head and neck region and upper extremities. It has a wide morphological and clinical spectrum and can pose a diagnostic difficulty especially in cases with unusual clinical presentation. We report five cases of Pilomatrixoma, The diagnosis is made only after histopathology in both cases. In first case the women presented with swelling in the back of neck, clinically thought to be lipoma , no FNAC was done; excisional biopsy was done and sent for histopathology and report revealed to be Pilomatricoma. In second case the women presented with post hysterectomy, with pelvic abscess and incidentally during a midline incision was made a hard mass was felt after rectus sheath was dissected attached to peritoneum, sent for histopathology and revealed to be Pilomatricoma.
Full Text Available Klippel Trenaunay Weber syndrome (KTWS is a rare disease characterized by hemihypertrophy, variceal enlargement of the veins, and arteriovenous (AV malformations. Renal involvement in KTWS is not known except in rare case reports. Herein, we present a case of KTWS with unilateral polycystic kidney. A 52-year-old male was admitted due to pain left lumbar region for the last three months. The physical findings were increased diameter and increased length of the left leg compared with the right one, diffuse variceal enlargements on left leg, portwine stain on left side on neck, thorax, abdomen, left upper limb and left lower limb and a few hemangiomatous lesions on the left leg. Radiographic findings were cystic lesions in the left kidney, varicose veins in left leg, and hypertrophy of the soft tissues of the proximal left leg. Color Doppler of left lower limb showed incompetence of the saphenofemoral junction. He was diagnosed to have KTWS with these findings. Renal function tests of the patient were in the normal range. Patient's only complain was left lumbar region pain, mild in intensity. Patient was managed symptomatically. [Int J Res Med Sci 2016; 4(5.000: 1760-1762
Ballaekere Jayaram Subhashchandra
Full Text Available Miliary mottling on chest radiography is seen in miliary tuberculosis, certain fungal infections, sarcoidosis, coal miner’s pneumoconiosis, silicosis, hemosiderosis, fibrosing alveolitis, acute extrinsic allergic alveolitis, pulmonary eosinophilic syndrome, pulmonary alveolar proteinosis, and rarely in hematogenous metastases from the primary cancers of the thyroid, kidney, trophoblasts, and some sarcomas. Although very infrequent, miliary mottling can be seen in primary lung cancers. Herein, we report the case of a 28-year-old female with chest X-ray showing miliary mottling. Thoracic computed tomography (CT features were suggestive of tuberculoma with miliary tuberculosis. CT-guided fine needle aspiration cytology confirmed the diagnosis as lower-lobe, left lung non-small cell carcinoma (adenocarcinoma. It is rare for the non-small cell carcinoma of the lung to present as miliary mottling. The rarity of our case lies in the fact that a young, non-smoking female with miliary mottling was diagnosed with non-small cell carcinoma of the lung.
Gaurav Vinod Kasat
Full Text Available We present a rare case of indirect vesicovaginal fistula (VVF in a patient with small capacity bladder. The fistula was between abdominal pseudocyst (APC arising from bladder and vagina – and hence, an indirect VVF. A 35-year-old female had a history of emergency obstetric hysterectomy with iatrogenic bladder injury. Postoperatively, the patient developed VVF and large APC. Patient's micturating cystourethrogram was suggestive of small capacity bladder with bilateral Grade IV vesicoureteral reflux with a well-defined APC arising from superior surface of bladder to L4–L5 lumbar vertebrae. Large APC arising from bladder and associated with an indirect VVF is very rare, and to the best of our knowledge, this is the first case reported in literature. The patient was successfully managed with exploratory laparotomy and excision of fistula tract and pseudocyst, adhesiolysis, and ileal augmentation cystoplasty. Multiple intraoperative adhesions should be suspected in APC. We would like to conclude that ileal augmentation cystoplasty is a safe procedure in a case of VVF with APC and small capacity bladder.
Shetty, Anurag J; Pai, C Ganesh; Shetty, Shiran; Balaraju, Girisha
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.
Full Text Available Introduction: Afflictions of shoulder by tuberculosis is rare and when it occurs its more commonly a dry lesion (caries sicca. Wet lesions in shoulder are rare and we report this case for the rarity of its occurrence. Case Report: A 55yrs old female patient presented with a painful swelling with restriction of movements of the right shoulder since six months. Patient had taken various treatments without any relief; there was no history of trauma, weight loss, recent infection in the past or any history of tuberculosis in family or contact with tubercular patient. Right shoulder revealed restricted movements with no local rise in temperature. Tenderness was present over anterior and posterior aspect of the right shoulder diffusely. External rotation and abduction movements were restricted while adduction and flexion were not restricted. Power of the muscles was unaffected with no neurological deficit. Antero-posterior and axial X-rays of the right shoulder showed no bony involvement however, ultrasonography showed lipoma. Serological investigations showed a markedly raised erythrocyte sedimentation rate (73mm / hr and a positive C-reactive protein. Surgical excision of the mass revealed rice bodies. DNA PCR was positive for tuberculosis and patient was started on anti-tubercular treatment( Category I for six months. Conclusion: Any patient coming with the complaints of long standing painful restriction of the movements of the shoulder associated with or without complaints swelling, shall be evaluated to rule out skeletal tuberculosis along with other differential diagnosis of periarthritis of shoulder and adhesive capsulitis. Most of the patients with skeletal tuberculosis may not necessarily present with the constitutional symptoms of fever, weight loss, etc and also because of the widespread prevalence of the organism in India. Keywords: Shoulder Tuberculosis, Caries Sicca, rice bodies.
Telich-Tarriba, Jose E; Victor-Baldin, Andre; Apellaniz-Campo, Armando
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.
Natashya Hilda Sima
Full Text Available Ramsay Hunt syndrome is a rare cause of facial nerve paralysis in children, caused due to reactivation of latent Varicella–Zoster virus within the geniculate ganglion. In addition to the facial nerve, Ramsay Hunt syndrome may also affect the vestibulocochlear nerve leading to inner ear dysfunction and in severe case may also involve other cranial nerves. We report a case of Ramsay Hunt syndrome in a 15-year-old child.
Gupta, Ashish; Rao, Harish K; Pande, Raghav; Gupta, Soumya
A middle aged housewife presented with an anterior abdominal wall mass which was slowly growing over a period of 1 years over the midline scar of previous caesarean section with cystic degeneration in a part of the tumor. Fine needle aspiration cytology revealed a papillary serous cystadenoma. At exploratory laparotomy tumor was seen arising from the ventral surface of the parietal peritoneum with normal viscera, omentum and ovaries. The pathologist reported the tumor as Benign Multicystic Peritoneal Mesothelioma. It is a rare but clinically favourable neoplasm with wide excision as the definitive treatment. Of the 130 cases reported in the literature, it has the least incidence in the Indian Subcontinent.
Ye. Yu. Dyakonova
Full Text Available Hereditary angioedema is a rare and dangerous hereditary disease, the differential diagnostics of which is very difficult up to date. Children with this disorder come with acute abdominal pain that may be caused by diseases of the digestive and urinary system, various gynecological diseases, and infectious processes in the body. The main task of the children's surgeon is to exclude acute surgical pathology and perform differential diagnostics with diseases such as acute appendicitis, Meckel diverticulum, intestinal obstruction, omentum infarction and the other as soon as possible. The article presents the clinical observation of a 14-year-old female patient with angioedema.
Askin Esen Hasturk
Full Text Available Gelatin sponge, oxidized cellulose and microfibrillar collagen are used to achieve hemostasis during neurosurgical procedures. Hemostatic agents may produce clinically symptomatic, radiologically apparent mass lesions. The differential diagnosis should include the foreign body along with recurrent tumor. We present a case of intracranial hemostatic agents found in a 56-year-old male patient seven years after undergoing a craniotomy for a left posterior parietal convexity meningioma. Preoperative magnetic resonance imaging (MRI suggested the presence of a recurrent tumor. We emphasize that although it is rare, a granuloma due to a foreign body reaction can result in a false image of tumor recurrence.
Full Text Available Marfan syndrome is a heritable condition that affects the connective tissues of Human body. It can affect any body systems including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs. Estimates indicate that approximately 1 in 3,000 to 5,000 individuals have Marfan syndrome and most individuals with Marfan’s syndrome have another affected family member which are due to new genetic mutations. We present to you an interesting rare case which reported to our hospital few months back with features of Marfan’s syndrome. Without cardiac or respiratory involvement and associated Mutism and Hypogonadism. In the family no other member was affected.
Ransom-Rodríguez, Adrián; Blachman-Braun, Ruben; Sánchez-García Ramos, Emilio; Varela-Prieto, Jesús; Rosas-Lezama, Erick; Mercado, Miguel Ángel
Choledochal cysts are rare congenital malformations of the bile duct characterized by dilatations of the intrahepatic and/or extrahepatic portion of the biliary tree, they are associated to an anomalous arrangement of the pancreaticobiliary duct. Pancreas divisum results from a fusion failure of the pancreatic buds. The coexistence of pancreas divisum and choledochal cyst in adults has been reported in less than 10 well documented cases. This article presents a case of a 42-year-old Peruvian man with intermittent episodes of abdominal pain, initially diagnosed with choledocholithiasis, who underwent open cholecystectomy. During surgery, a diagnosis of choledochal cyst and pancreas divisum was made, and therefore a hepaticoduodenostomy was performed. The patient was referred to our hospital due to persistence of abdominal pain. After admission, a papillectomy was achieved without further complications. A cyst resection and dismantling of hepaticoduodenostomy with Roux-en-Y was performed 8 years later. During the subsequent 18-month follow-up, the patient remains asymptomatic.
Mortazavi, S.M.J.; Asadollahi, Saeed; Saberi, Sadegh [Tehran University of Medical Sciences, Department of Orthopedic Surgery, Imam Hospital, Tehran (Iran); Wenger, Doris [Mayo Clinic, Diagnostic Radiology, Rochester, MN (United States); Shariat Torbaghan, Shams [Tehran University of Medical Sciences, Department of Pathology, Imam Hospital, Tehran (Iran); Unni, K.K. [Mayo Clinic, Department of Pathology, Rochester, MN (United States)
Osteoblastoma is an uncommon benign bone tumor most commonly located in the vertebral column or metaphysis of a long bone. Periosteal location is rare. We report a periosteal-based osteoblastoma, arising from the proximal tibia, in a 20-year-old woman who presented with knee swelling and pain of 2-year duration. Imaging studies showed a metaphyseal surface-based lesion with patchy radiodensities. The cortico-medullary junction was intact. The lesion was totally excised. Histopathologic evaluation disclosed immature bone and osteoid deposition in a vascularized stroma, associated with numerous osteoblasts and osteoclasts rimming the bony trabeculae. Plate-like arrangements of cartilage in the margin of the neoplastic tissue were also identified. At 16 months postoperatively, the patient was well without recurrence. Although extremely unusual, the presence of cartilage does not necessarily exclude the diagnosis of osteoblastoma. (orig.)
Full Text Available Constrictive pericarditis (CP is an uncommon post inflammatory disorder. It is described as pericardial thickening, myocardial constriction, and impaired diastolic filling. The most common etiologies are idiopathy, mediastinal radiotherapy, and prior cardiac surgery. Less common etiologies include viral infections, collagen vascular disorders, renal failure, sarcoidosis, tuberculosis, and blunt chest trauma. CP can less commonly be caused by malignancy. We report a very rare case of non-Hodgkin’s lymphoma (NHL presenting twice with attacks of decompensated heart failure. Echocardiography revealed that CP was responsible for the patient's symptoms as the first manifestation of NHL. Chest computed tomography scan and biopsy findings were compatible with the diagnosis of NHL. The patient received R-CHOP (cyclophosphamide, hydroxydaunorubicin, Oncovin®, and prednisone or prednisolone, combined with the monoclonal antibody rituximab chemotherapy. Three months later, there was significant improvement in the patient’s symptoms and considerable decrease in pericardial thickness.
Taillefer, Marguerite S; Tangarorang, Glendo L; Kuchel, George A; Menkes, Daniel L
We report an atypical presentation of sporadic Creutzfeldt-Jakob disease (CJD) in a 74-year-old woman that illustrates the difficulty in diagnosing this rare, but important, cause of rapidly progressive dementia. Despite well-established criteria, this diagnosis is often missed or substantially delayed (Table 1). In this case, a precipitous cognitive decline associated with a urinary tract infection initiallysuggested delirium. Although atypical CJD was considered as a cause when symptoms persisted, a definitive diagnosis was established postmortem when the cerebrospinal fluid (CSF) prion protein 14-3-3 tested positive. Creutzfeldt-Jakob disease must be considered in the differential diagnosis of rapidly progressive dementia as Connecticut accounts for approximately three of the more than 200 cases diagnosed nationally.
Full Text Available We are reporting a 33-year old woman with multiple skin-colored, firm, non-tender nodules of varying sizes (ranging between 1 and 1.5 cm, with limited mobility and normal overlying skin. They were distributed mainly on the palmer side of the fingers. History and laboratory examination indicated lack of systemic diseases such as diabetes, rheumatoid arthritis, and tuberculosis. Histopathologic examination confirmed the subcutaneous granuloma annulare (SGA diagnosis by showing a normal epidermis with palisading granulomas (histocytes and giant cells surrounding small areas of connective tissue degeneration (central necrobiosis and mucin accumulation in the reticular dermis and subcutaneous tissues. The patient responded well to two-session course of intra-lesional steroid injections. SGA should be considered by dermatologists in the differential diagnosis of subcutaneous nodules even without concomitant systemic disease and with rare presentation.
Full Text Available Extracranially located posterior inferior cerebellar artery (PICA aneurysms are rare with only 21 cases reported till date. They may arise either from the proximal segment of an extracranially originating PICA or from the tip of its caudal loop when it dips below the foramen magnum. A 16-year-old female presenting with sudden onset severe headache and intraventricular hemorrhage (IVH in the occipital horns of the lateral ventricle and the fourth ventricles, was diagnosed to have an extracranial proximal segment PICA aneurysm on a four vessel digital subtraction angiography (DSA, after initially missing it on the brain magnetic resonance imaging (MRI with angiogram (MRA because of its extracranial location. During surgery, the aneurysm was clipped following a far lateral suboccipital craniectomy with C1-C2 hemilaminectomy. The patient showed good recovery. Thus, we emphasize the need for a dedicated four vessel angiography to diagnose such lesions.
Full Text Available A complete hydatidiform mole with a viable coexisting fetus (CMCF is a rare occurrence. Similarly, Mullerian anomalies such as a bicornuate uterus are uncommon variants of normal anatomy. We report a case of a 40-year-old female with a known bicornuate uterus presenting at 13 weeks gestation with vaginal bleeding. Ultrasound findings showed a healthy viable pregnancy in the right horn with complete molar pregnancy in the left horn. After extensive counseling, the patient desired conservative management, however, was unable to continue due to profuse vaginal bleeding. The patient underwent suction dilation and curettage under general anesthesia and evacuation of the uterine horns. Postoperatively, the patient was followed until serum beta-human chorionic gonadotropin (β-hCG level dropped to <5 mU. This is the first case of a CMCF reported in a bicornuate uterus, diagnosed with the use of ultrasound imaging.
Full Text Available Functioning adrenocortical oncocytoma is very rare neoplasm. It is usually nonfunctional and benign and incidentally detected. Generally, these tumors originate in the kidneys, thyroid, parathyroid, and salivary or pituitary glands; they have also been reported in other sites including choroid plexus, respiratory tract, and larynx. Histologically, they are characterized by cells with eosinophilic granular cytoplasm and numerous packed mitochondria. We reported a case of a 44-year-old female who presented with Cushing syndrome for hypersecretion of cortisol due to adrenocortical oncocytoma. Magnetic resonance of abdomen revealed a right adrenal mass. Laparoscopic adrenalectomy was performed and the tumor was pathologically confirmed as benign adrenocortical oncocytoma. After surgical treatment, Cushing’s syndrome resolved.
Full Text Available Introduction: Cardiac tumors can be divided to primary and secondary and to benign and malignant tumors. One of the benign tumors of the heart is cardiac fibroma. More than 80% of this tumor occurs in children; however its occurrence in neonates is very rare. Fewer than 100 cases have been reported. Case Presentation: Our patient is a 10 day’s girl neonate with severe dyspnea, mild cyanosis, tachycardia (heart rate = 170- 180/min and obstruction of right ventricle (RV outlet with very large tumor. Conclusion: Cardiac tumors in neonate population must be considered in the diagnosis of arrhythmias, cardiac insufficiency, valvular disease, cardiomegaly or presence of murmurs. Early diagnosis before birth should be appropriate and accurate imaging devices must be used in detecting these tumors.
Yin, Wan-Bin; Wei, Yan-Hua; Liu, Guang-Wei; Zhao, Xiao-Tang; Zhang, Mao-Shen; Hu, Ji-Lin; Zhang, Nan-Yang; Lu, Yun
Pyometra is an uncommon and potentially lethal disease that occurs mainly in postmenopausal women. Spontaneous perforation of pyometra presenting as acute abdomen is an extremely rare complication of pyometra, and the patients are always admitted to the emergency department. An additional case is reported herein. In addition, a literature review was performed between 1949 and 2015. A correct preoperative diagnosis was made in 21.05% of all the cases. Of all cases, 25.71% were associated with malignant disease. The mortality rate of spontaneous perforation of pyometra is 31.88%. Thus, it should be considered in the differential diagnosis of acute abdomen in elderly women. Total hysterectomy along with bilateral salpingo-oophorectomy is the preferred treatment. Administration of broad-spectrum antibiotics and postoperative intensive care support are essential to reduce the high mortality.
Full Text Available Peutz-Jegher′s syndrome (PJS is an autosomal dominant disorder characterized by numerous hamartomatous polyps in the gastrointestinal tract (GIT and pigmented muco-cutaneous lesions. We present here a case of a maltoma associated with multiple hamartomatous polyps detected in a post-operative ileocolic specimen of a 28-year-old man. Prior to this, he had undergone surgery for intussusception when similar polyps were noted in the small bowel. Upper GIT endoscopy also confirmed the diffuse presence of such polyps. A clinico-pathological diagnosis of PJS was made, which by itself is rarely encountered. Furthermore, the detection of mucosa associated lymphoid tissue lymphoma/maltoma in a background of PJS is remarkably unique in this case, for which it has been reported.
Arvind K Mathur
Full Text Available Acute pancreatitis presenting with normal serum amylase and lipase levels is a rare phenomenon. It is thought that typically, acute inflammation and auto-digestion of the pancreas leads to the release of both amylase and lipase, leading to elevated levels in the blood. For this reason, normal serum amylase and lipase levels in a patient with acute abdominal pain would typically rule out acute pancreatitis in favor of another diagnosis. Here we present two cases of acutely ill patients that were confirmed to have acute pancreatitis radiologically but with serum amylase and lipase levels that remained within the normal range throughout their illnesses for both patients. These cases suggest that while an important diagnostic tool, serum amylase and lipase should not be used as the sole factor to either diagnose or rule out acute pancreatitis. Instead, these laboratory markers should be viewed in the context of the patient’s overall presentation, weighted equally with the presenting signs, symptoms, and imaging studies to help guide toward a diagnosis.
Ursani, Mohammad A.; Appleyard, Joan; Whiteru, Onome
Patient: Male, 44 Final Diagnosis: PAPASH syndrome Symptoms: Recurrent skin ulcers • diarrhea • inflammatory arthritis Medication: Prednisone • anti-tumor necrosis factor Clinical Procedure: N/A Specialty: Rheumatology Objective: Rare disease Background: Pyogenic arthritis, pyoderma gangrenosum (PG), acne, and suppurative hidradenitis (PA-PASH) syndrome has been linked to an auto-inflammatory pathway. We report a case that is an atypical presentation of a rare syndrome, which supports literature suggesting that different phenotypes of PG-related syndromes may be a variation of the same pathogenic spectrum. Interestingly, our patient displayed a positive proteinase-3 antibody (PR-3). The clinical relevance of this is unclear. In recent literature, antineutrophil cytoplasmic autoantibodies (ANCA) positivity has been reported in various inflammatory conditions other than ANCA-associated vasculitis (AAV). Case Report: A 44-year-old African American male with history of pyogenic arthritis, acne, suppurative hidradenitis, and chronic diarrhea presented for evaluation of painful ulcers located on the bilateral lower extremities, bilateral proximal interphalangeal joints, buttocks, and scrotum, and chronic diarrhea. Infectious etiologies for the ulcers were ruled out. Biopsy of an ulcer revealed PG. Colonoscopy revealed inflammation and ulceration with biopsy consistent with ulcerative colitis (UC). After treatment with prednisone, the ulcers healed within 4 weeks, and the chronic diarrhea resolved. Conclusions: Our patient displayed a variation of PA-PASH syndrome and UC. Previously reported cases of similar phenotypes of PG-related syndromes have not presented in this fashion. Furthermore, the literature does not report cases of PG-related syndromes with an elevation in PR-3 antibody. Elevation in PR-3 has been reported in various inflammatory disorders aside from AAV. The relevance of this is currently unclear. It may be possible that the milieus of these various
Mitra, Suvradeep; Kaur, Gurwinder; Nada, Ritambhra; Mohindra, Satyawati
Calcifying epithelial odontogenic tumor, also known as Pindborg tumor, is a rare benign odontogenic tumor. This tumor predominantly involves the mandible, though the maxilla can also be involved in some cases. The involvement of maxillary sinuses, however, has been previously reported in only 8 case reports English literature. These patients chiefly presented with nasal obstruction along with epistaxis or proptosis in rare cases. However, a primary presentation as nasal polyp is unheard of. We present a rare case of calcifying epithelial odontogenic tumor presenting as a nasal polyp, posing a diagnostic difficulty.
A E Borgonovo
Full Text Available The paradental cyst is a lesion classified and recognized by World Health Organization quite recently, which is related to an inflammatory process, especially pericoronitis, involving a tooth in eruption. The aim of this article is to report a rare bilateral case of paradental cyst. An 8-year-old boy presented to the Oral Surgery Department, Dental Clinic, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS Fondazione Ospedale Maggiore Policlinico, University of Milan, with the complaint of swelling over the buccal gingiva of his unerupted lower left first molar. Radiographs revealed a radiolucency involving the bifurcation and root area of teeth 36 and 46. The cysts were enucleated, maintaining the affected teeth in site; microscopic evaluation revealed a chronically inflamed cyst lined by a non-keratinized stratified squamous epithelium; the histopathology associated with macroscopic and radiographic examinations permitted the definitive diagnosis of a paradental cyst on the mandibular left and right first molars. The most recent literature shows the rarity of the paradental cyst occurring with bilateral localization. Because the paradental cyst can present variable clinical and radiographic signs, it is mandatory to correlate all clinical, radiographic, and histological data to obtain a definitive diagnosis.
@@History of rare earth applied in agriculture Concept of rare earth Rare earth(RE for short)is a general designation of 17 elements,including 15 elements of lanthanum system,they are lanthanum (La),cerium (Ce),praseodymium (Pr),neodymium (Nd),promethium(Pm),samarium(Sm),europium(Eu),gadolinium(Gd),terbium(Tb),dysprosium(Dy),holmium(Ho),erbium(Er),thulium(Tm),ytterbium(Yb),lutetium(Lu)),and 2 elements of the same clan with lanthanum system: scandium (Se)and yttrium (Y) in the periodic table of elements.Rare earth look like earth or soil,and their quantity which may be separated from ore are very rare or few,so scientists call them rare earth elements.
Seyyed Hosein Ahmadi Hoseini
Full Text Available Introdution: Tuberculosis (TB, with different types of respiratory tract involvements, has a high rate of mortality all around the world. Endobronchial involvement, which is a slightly common tuberculous infection, requires special attention due to its severe complications such as bronchostenosis. Aim of study of this study was describes, one type of pulmonary tuberculosis with less diagnosed and delayed treatment. High suspicious needs to diagnose and may be need bronchoscopy for confirmed the diagnosis. It can be associated with sever complication and early diagnosis and treatment are necessary for prevention of adverse effect. Materials and Methods: This retrospective study was conducted in a teaching hospital during 2005-2010. Patients diagnosed with endobronchial tuberculosis through bronchoscopic biopsy were included in the study. Diagnosis was confirmed by observation of caseous necrosis, bronchial lavage fluid or positive acid-fast staining in tissue samples obtained through bronchial biopsy. Moreover, demographic information, endobronchial view, lab tests, as well as clinical and radiographic findings were reviewed and evaluated retrospectively. Results: A total of 20 cases were confirmed with endobronchial tuberculosis, 75% of whom were female with the mean age of 60 years. The results showed that the most common clinical symptom was cough (80%, the most common finding in the chest X-ray was consolidation (75%, and the most common bronchoscopic feature was anthracosis (55%. Conclusion: TB is still a major concern, particularly in the developing countries. Thus, in order for early diagnosis and prevention of this disease, we need to pay meticulous attention to its clinical manifestations and bronchoscopic features.
Verma, Archana; Kumar, Alok
Neurocysticercosis, caused by the larval stage of the tapeworm Taenia solium, is the most common parasitic infection of the central nervous system. Its clinical manifestations are varied, non specific and pleomorphic, depending on multiple factors. Seizures are the commonest presentation of neurocysticercosis. In this communication we describe an interesting case of multiple neurocysticercosis in a young presenting with psychiatric manifestations. He responded well to steroid and antipsychotic treatment. This case highlights an uncommon presentation of neurocysticercosis and significance of early recognizing this reversible cause will avoid delay in treatment.
Nibal; Saad; Ahmad; Alsibai; Tarik; H; Hadid
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.
Full Text Available A 65-year-old gentleman presented with left groin swelling over the course of two months. Physical exam revealed nontender left inguinal adenopathy, and computed tomography scans detected multiple lymph nodes in the mesenteric, aortocaval, and right common iliac regions. An excisional lymph node biopsy was performed. Pathologic evaluation demonstrated follicular center site which stained positive for PAX5, CD20, CD10, Bcl-2, Bcl-6, and mantle zone cells. These findings demonstrated CCND1 and CD5 positivity, suggesting composite lymphoma comprising follicular lymphoma (FL with in situ mantle cell lymphoma (MCLIS. FL is known as indolent non-Hodgkin lymphoma; however, the clinical significance of a coexisting MCLIS continues to be elusive, and optimal management of these patients remains largely unknown. This case illustrates the diagnostic and therapeutic challenges of composite lymphomas. This paper also discusses advances in molecular pathogenesis and lymphoma genomics which offer novel insights into these rare diseases.
Eduardo E. Montalvo-Jave
Full Text Available Gallstone ileus is a rare cause of small bowel obstruction which usually presents in elderly female patients and which has been associated with high morbidity and mortality rates. We present the case of a 63-year-old man who presented at our institution with symptoms of bowel obstruction. Abdominal X-ray and exploratory laparotomy revealed a large gallstone in the terminal ileus.
Shimizu, Reiko; Ogata, Katsuhisa; Tamaura, Akemi; Kimura, En; Ohata, Maki; Takeshita, Eri; Nakamura, Harumasa; Takeda, Shin'ichi; Komaki, Hirofumi
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
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.
Makker, Jasbir; Karki, Niraj; Sapkota, Binita; Niazi, Masooma; Remy, Prospere
BACKGROUND Gastroesophageal cancers, previously considered rare, are rapidly increasing worldwide. We present here a unique case of gastroesophageal carcinoma with metastasis to the rectum. CASE REPORT A 60-year-old female patient presented with constipation, bloating, and weight loss of 4-month duration. She had undergone sleeve gastrectomy 6 years before. Endoscopies performed revealed a friable-looking mucosa in the lower esophagus and a polypoid rectal mass. Histopathological examination from both the esophageal and rectal lesions revealed poorly differentiated adenocarcinoma cells. Immunohistochemistry stain from both specimens was positive for CK7 supporting the gastric site primary with metastasis to the rectum. Further evaluation also revealed metastasis to bone and malignant pleural effusion. Chemotherapy with palliative intent was initiated. CONCLUSIONS Colorectal metastasis is commonly seen from cancers of the breast, stomach, melanoma, kidney, prostate, and ovaries. However, colorectal metastasis from gastroesophageal cancer has never been reported in the medical literature. Diagnosis relies on histopathologic examination and immunohistochemical staining of the tumor. Treatment depends on the tumor stage. Tumors with widespread metastatic disease are candidates for palliative chemotherapy.
Full Text Available Aldosterone-producing adrenocortical carcinomas are an extremely rare cause of hyperaldosteronism (<1%. Coexistence of different endocrine tumors warrants additional screening for multiple endocrine neoplasia syndromes, especially in young patients with large or malignant masses. We present the case of a 40-year-old man with a history of hypertension that presented with an incidental left adrenal tumor during an ultrasound performed for nephrolithiasis. Biochemical assessment showed a mildly elevated calcium (11.1 mg/dL, high parathyroid hormone, and a plasma aldosterone concentration/plasma renin activity ratio of 124.5 (normal < 30, compatible with primary hyperparathyroidism with a concomitant primary hyperaldosteronism. A Tc99m-MIBI scintigraphy showed an abnormally increased tracer uptake in the right superior parathyroid and abdominal computed tomography confirmed a left adrenal tumor of 20 cm. The patient underwent parathyroidectomy and adrenalectomy with final pathology reports of parathyroid hyperplasia and adrenal carcinoma with biochemical remission of both endocrinopathies. He was started on chemotherapy, but the patient developed a frontal cortex and an arm metastasis and finally died less than one year later.
Harrison, Andrew; Sumner, Michael; Sobecki, Jeffrey; Christiansen, Gregory
Compartment syndrome presents with a slow onset of pain. Anything that causes an increased intra-compartmental pressure can lead to surgical emergency. A 45-year-old male presents to the emergency department with prolonged syncope. The patient is unable to recall the previous night except for using oxycodone. Patient medical history is significant for ischemic cardiomyopathy and myocardial infarction. Physical exam showed left arm pain and swelling, decreased sensation to light touch, and decreased range of motion. The left forearm was cool to touch with decreased pulses. Blood urea nitrogen/creatinine ratio was 47/4.0, white blood cell was 15.1, troponin was 34.2, and creatine kinase was immeasurable. Electrocardiogram showed non-specific T-wave abnormalities. Computed tomography showed left hemithoracic musculature enlargement. The patient's symptoms continued to worsen. The patient underwent emergency fasciotomy to relieve intra-compartmental pressure. Compartment syndrome of the deltoid is rare and yielded less than ten cases in our literature review. Although compartment syndrome usually affects the forearm, one must consider its possibility in any anatomical location.
Molina-Ayala, Mario; Ramírez-Rentería, Claudia; Manguilar-León, Analleli; Paúl-Gaytán, Pedro; Ferreira-Hermosillo, Aldo
Aldosterone-producing adrenocortical carcinomas are an extremely rare cause of hyperaldosteronism (<1%). Coexistence of different endocrine tumors warrants additional screening for multiple endocrine neoplasia syndromes, especially in young patients with large or malignant masses. We present the case of a 40-year-old man with a history of hypertension that presented with an incidental left adrenal tumor during an ultrasound performed for nephrolithiasis. Biochemical assessment showed a mildly elevated calcium (11.1 mg/dL), high parathyroid hormone, and a plasma aldosterone concentration/plasma renin activity ratio of 124.5 (normal < 30), compatible with primary hyperparathyroidism with a concomitant primary hyperaldosteronism. A Tc99m-MIBI scintigraphy showed an abnormally increased tracer uptake in the right superior parathyroid and abdominal computed tomography confirmed a left adrenal tumor of 20 cm. The patient underwent parathyroidectomy and adrenalectomy with final pathology reports of parathyroid hyperplasia and adrenal carcinoma with biochemical remission of both endocrinopathies. He was started on chemotherapy, but the patient developed a frontal cortex and an arm metastasis and finally died less than one year later. PMID:26161274
Austin S. Nakatsuka
Full Text Available A 41-year-old man with a history of gout presented with an enlarging eyelid growth. Clinical examination revealed a mildly indurated nodule at the lateral canthus. Following resection, histopathological examination revealed needle-shaped, crystalline material surrounded by multinucleated giant cells, findings consistent with gouty tophus. This represents just the sixth case of gouty tophus of the eyelid reported in the literature.
Greuter, Thomas; Browne, Martin; Dommann-Scherrer, Corina; Binder, Daniel; Renner, Christoph; Kapp, Ursula
In the present study, the case of a 41-year-old man with immunoglobulin (Ig)M multiple myeloma (MM) that presented with an unusually non-aggressive clinical course who has survived for >9 years to date, is presented. Initial diagnosis of symptomatic MM was established according to the International Myeloma Working Group consensus statement and guidelines. Due to the mild symptoms, no therapy was administered and the patient was closely followed up. Eight years after initial diagnosis, clinical, morphological and genetic progression occurred with the development of hypercalcemia, progressively deteriorating polyneuropathy, clonal expansion of plasma cells up to 50% of hematopoietic cells and demonstration of the typical t(11;14) translocation (Ig heavy chain locus rearrangement). Subsequently, 4 cycles of induction chemotherapy with velcade, cyclophosphamide and dexamethasone, were administered. At the time of writing, the patient remained alive in generally good health. To the best of our knowledge, with a survival time of >9 years, this case reports the longest survival time of an IgM MM patient to date, which contradicts previous evidence that suggests IgM MM exhibits an aggressive clinical course.
Reyaz Ahmed Para,Muzamil Latief,Huma Noor
Full Text Available Spontaneous spinal epidural hematoma (SSEH is a rare entity.SSEH is an accumulation of blood in the vertebral epidural space in the absence of trauma or iatrogenic procedure like lumbar puncture.The incidence of SSEH has been estimated at 0.1 patients per 100,000 individuals and represents less than 1% of spinal space-occupying lesions .Here we are presenting case of a 65year old female hypertensive on treatment with controlled blood pressure, who presented with sudden onset paraplegia and weakness of muscles of hand, associated with urinary and bowel incontinence that started 6 hours before presenting to Emergency Room .Patient was subjected to MRI spine that revealed a collection in spinal epidural space ,hypointense in T1W images and hyperintense in T2W images, extending from C6-C7 to T1-T2 suggestive of acute / subacute epidural hematoma (fig 1.In our case all possible causes of an epidural haematoma were ruled out by relevant investigations.Patient was subjected to surgical evacuation of hematoma after 48 hours of presentation.Perioperative and Postoperative period was uneventfull . Sensations over involved areas improved. Motor weakness also improved from Grade III to Grade IV+ in bilateral lower limbs and from Grade II to Grade IV in small muscles of hand and triceps, however Patient persisited with urinary incontinence.CONCLUSION: When a patient receiving anticoagulant therapy complains of sudden and unexplained neck or back pain, we should suspect the possibility of SSEH. For early diagnosis, immediate MRI is essential .In addition, we should consider SSEH as one of the important differential diagnoses in elderly patients who have developed acute myelopathy. [Natl J Med Res 2013; 3(4.000: 424-427
Sanjay N. Agrawal
Full Text Available A 32 years old female presented with a single asymptomatic lesion on right thigh since 5 years. On examination, a single ill defined, irregular hyperpigmented plaque was present on medial aspect of right thigh. The plaque was firm in consistency and was non-tender. No scaling was evident. Clinically a differential diagnosis of Hansen’s disease, lupus vulgaris and deep fungal infection were made. The histopathology interestingly showed features suggestive of Kaposi’s sarcoma. The patient was HIV negative and otherwise completely asymptomatic.
Lalla, Rajesh V; Patton, Lauren L; Dongari-Bagtzoglou, Anna
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.
Full Text Available We present a case of allergic fungal sinusitis (AFS in a 24 -year old man with history of left sided nasal obstruction and discharge since few years. Since few months he developed epiphora in the left eye associated with discomfort on eye movements. Patient was examined and CT with contrast was done. CT contrast showed an enhancing lesion in Left maxillary and ethmoid sinuses and erosion of the inferior bony wall of the orbit and medial wall of maxillary sinus. Though most patients of fungal sinusitis are immunocompromised but this patient was young male immunocompetent and made an unusual presentation with visual epiphora and painful eye movements. CT showed bony erosion of the Left inferior Bony wall of the Orbit and medial wall of Maxillary Sinus. After through examination and specific investigations, the patient was posted for surgery. We planed for Cald well –Luc’s Surgery and Endoscopic excision of the mass .Histological examination was reported as non malignant and microscopy showed Fungal Hyphae. After the surgery patient was discharged satisfactorily within couple of days and followed up regularly. Journal of College of Medical Sciences-Nepal,2012,Vol-8,No-1, 48-51 DOI: http://dx.doi.org/10.3126/jcmsn.v8i1.6826
Nguyen, Ho V.; Ishak, Gisele E. [University of Washington, Department of Radiology, Seattle Children' s Hospital, Seattle, WA (United States)
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.)
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.
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.
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.
Ceran, Nurgul; Turkoglu, Recai; Erdem, Ilknur; Inan, Asuman; Engin, Derya; Tireli, Hulya; Goktas, Pasa
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.
Barot, Rakesh K; Shah, Rakesh; Bhagat, Nupur
Ocular injury secondary to foreign body remains an important cause of ocular morbidity with or without blindness in working population. Intraocular foreign body may have varied clinical presentation. Initially it may look an apparently normal eye followed by obvious ocular symptoms depending upon its location and degree of inflammation. It can result in partial or full thickness penetration of sclera with or without involvement of posterior segment. We hereby present two cases of metallic intrascleral foreign body entry through upper lid in young carpenters following hammer and chisel injury. In case 1, Intrascleral location of foreign body was confirmed with X ray orbit and B scan ultrasonography while in case 2 the diagnosis of intrascleral foreign body was missed at the first visit to ophthalmology clinic Both the patients underwent exploratory surgeries where intrascleral metallic foreign bodies were found without ocular penetration. An intrascleral foreign body may be missed due to small penetrating scleral wound covered by a large subconjunctival haemorrhage accompanied by minimal or no signs of inflammation and failure on part of treating ophthalmologist to suspect an intrascleral foreign body. To establish a diagnosis of intraocular particularly intrascleral foreign body, careful history taking and clinical examination along with use of imaging studies are mandatory steps which help in successful management and good visual outcome. These cases highlight the importance of considering a presumptive diagnosis of retained intrascleral foreign body in every patient with a history of penetrating ocular trauma through lid or a visible wound/scar on the lid. PMID:27190855
Merali, N; Yousuff, M; Pronisceva, V; Poddar, A
Paraneoplastic syndrome affects less than 1% of cancer patients. Diagnosis of paraneoplastic syndrome with neurological presentation requires screening for an underlying malignancy, including a complete history, physical examination and imaging studies. Treatment often results in symptom stability, rather than improvement. Paraneoplastic polymyositis can precede or instantaneously occur at diagnosis or treatment of a primary tumour, while neurological symptoms can persist even following cancer treatment. We report a rare case of metaplastic breast carcinoma with an unusual presentation of paraneoplastic polymyositis.
Blachman-Braun, Ruben; Sánchez-García Ramos, Emilio; Varela-Prieto, Jesús; Rosas-Lezama, Erick; Mercado, Miguel Ángel
Choledochal cysts are rare congenital malformations of the bile duct characterized by dilatations of the intrahepatic and/or extrahepatic portion of the biliary tree, they are associated to an anomalous arrangement of the pancreaticobiliary duct. Pancreas divisum results from a fusion failure of the pancreatic buds. The coexistence of pancreas divisum and choledochal cyst in adults has been reported in less than 10 well documented cases. This article presents a case of a 42-year-old Peruvian man with intermittent episodes of abdominal pain, initially diagnosed with choledocholithiasis, who underwent open cholecystectomy. During surgery, a diagnosis of choledochal cyst and pancreas divisum was made, and therefore a hepaticoduodenostomy was performed. The patient was referred to our hospital due to persistence of abdominal pain. After admission, a papillectomy was achieved without further complications. A cyst resection and dismantling of hepaticoduodenostomy with Roux-en-Y was performed 8 years later. During the subsequent 18-month follow-up, the patient remains asymptomatic. PMID:28317046
Kuhn, A; Schuppe, H C; Ruzicka, T; Lehmann, P
Lupus erythematosus (LE) is a disease with a wide spectrum of cutaneous and systemic manifestations and has been the subject of many studies over several decades. Clinical features of patients with LE show a great variation, and for this reason it is difficult to develop a unifying concept of this disease. Consequently, this has led to the identification of subsets which have been defined by constellations of clinical and photobiological features, histological changes as well as laboratory abnormalities. Besides the characteristic classical forms such as systemic LE (SLE), subacute cutaneous LE (SCLE), and discoid LE (DLE), there are uncommon variants of LE which often lead to diagnostic difficulties. Bullous LE (BLE) and urticarial vasculitis are listed as characteristic but non-specific manifestations of systemic LE. LE tumidus (LET), LE hypertrophic/verrucous (LEHV), chilblain LE, and LE profundus (LEP) are uncommon subtypes of chronic cutaneous LE. Annular erythema and papulonodular mucinosis are further uncommon cutaneous manifestations of LE. This clinical review summarizes the typical features of the uncommon forms of LE in order to improve clinical diagnostic precision and to achieve a better differentiation of the subtypes.
Pongpairoj, Korbkarn; Ale, Iris; Andersen, Klaus Ejner
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....
Full Text Available We report an adolescent girl who had left-sided neurogenic thoracic outlet syndrome (TOS due to impingement of the scalenus anterior muscle with bilateral changes on nerve conduction studies and responded well to surgical decompression. A 13-year-old Caucasian girl presented with intermittent pain, swelling, erythema, tingling and numbness of the palmar aspect of her left hand. Nerve conduction studies revealed bilateral ulnar sensory and motor conduction abnormalities, suggesting early compressive neuropathy in the asymptomatic arm as well. She underwent surgical exploration when it was noted that the scalenus anterior itself was impinging on the brachial plexus. She had a good clinical response to scalenectomy. The diagnosis of neurogenic TOS remains difficult as no single test has been accepted as a gold standard. But, once diagnosed using clinical symptoms, nerve conduction studies, electromyography and radiological investigations, it is a treatable condition with good prognosis.
Mehmet Nuri Konya
CONCLUSION: With this report we would like to raise awareness about the possible association of persistent CF with this rare genetical disorder, Ritscher–Schinzel syndrome. It should be included in differential diagnosis of patients with persistent CF.
Nikhil Talwar, Manoj Andley, Bina Ravi, Ajay Kumar
Full Text Available Cushing’s Syndrome is rarely caused by a malignant adrenal tumor. We report the case of a 24-year-oldfemale patient with Cushing’s syndrome caused by a functioning adrenocortical carcinoma and recoveredafter adrenalectomy.
Nikhil Talwar, Manoj Andley, Bina Ravi, Ajay Kumar
Cushing’s Syndrome is rarely caused by a malignant adrenal tumor. We report the case of a 24-year-oldfemale patient with Cushing’s syndrome caused by a functioning adrenocortical carcinoma and recoveredafter adrenalectomy.
Full Text Available Multiple myeloma, a plasma cell neoplasm, presents most commonly with anemia, hypercalcemia, renal failure, and bone pain. Only few cases of clinical aggressive presentation associated with bleeding were reported in the medical literature. The reported cases included gastrointestinal bleeding and cardiac tamponade. Spontaneous retroperitoneal haemorrhage as initial presentation has not been so far reported. We hereby report a case of a 64-year-old female who was found to have catastrophic hemorrhage in the retroperitoneal region that extended into intrathecal space causing cord compression. The case posed a significant diagnostic and management dilemma. This case emphasizes the need to think broadly and include multiple myeloma in the diagnosis of unexplained massive retroperitoneal bleeding.
G. T. Yakhyayeva
Full Text Available Osteogenesis imperfecta, also known as the brittle bone disease, is a clinically heterogenic hereditary connective tissue disease characterized by brittle bones and high risk of skeletal bone fractures. Other observable symptoms, such as deformities of limb and spinal bones, blue sclerae, dentinogenesis imperfecta and progressive hearing loss vary in severity depending on the type of the disease. According to the original classification by D.O. Silence (1979, there are 4 types of osteogenesis imperfecta; however, the number thereof has multiplied due to discovery of new disease-inducing mutations. Type V osteogenesis imperfecta is distinguished by characteristic clinical radiographic symptoms; also, patients with this type of the disease do not feature a type I collagen gene mutation. Nevertheless, all types of osteogenesis imperfecta, including type V, are characterized by high bone brittleness, frequent fractures and further bone deformities, which is the most common cause of incapacitation of the patients.
Full Text Available Lupus erythematosus panniculitis (LEP, an unusual form of chronic cutaneous lupus erythematosus, is characterized by chronic inflammation and fibrosis of subcutaneous tissue. Clinically, it presents as subcutaneous nodules on common locations such as forehead, cheeks, proximal limbs and buttocks. Ulceration of the nodules may occur in certain cases. Very few case studies have reported the occurrence of early solitary periorbital involvement, highlighting the need for a high index of suspicion in such cases. We report here a case having generalized extensive LEP with initial manifestation of a solitary periorbital swelling, autoimmune hemolytic anemia, and associated antiphospholipid antibodies positivity.
Phadke, P S; Gandhi, A R; More, S A; Joshirao, R P
A-21-year old male admitted with fever and piriformis syndrome, typically associated with gluteal region pain radiating down the thigh, was evaluated and found to have pyomyositis involving piriformis and osteomyelitis with sacroiliac joint affection on radiological imaging. Salmonella serotype typhi was isolated from blood culture. He was treated with intravenous Ceftriaxone for 6 weeks with signs of recovery documented clinically as well as on imaging studies. Salmonella pyomyositis with osteomyelitis in an immunocompetent patient with no previous hematological or endocrine disorder makes this case an unusual presentation.
Full Text Available Lung hypoplasia is often associated with pulmonary venous return abnormalities, referred to as the Scimitar syndrome, in pediatric patients. A two day-old male patient presented to our clinic with respiratory distress and mild cyanosis. Diagnostic studies revealed dextrocardia, right sided hypoplasia of upper and middle lung lobes and enlargement of the left lung due to the compensation, midline liver, right sided stomach and right sided spleen. No pulmonary venous return abnormalities were detected. This is the first report of lung hypoplasia associated with heterotaxy, visceral malposition and normal pulmonary venous return.
P S Phadke
Full Text Available A-21-year old male admitted with fever and piriformis syndrome, typically associated with gluteal region pain radiating down the thigh, was evaluated and found to have pyomyositis involving piriformis and osteomyelitis with sacroiliac joint affection on radiological imaging. Salmonella serotype typhi was isolated from blood culture. He was treated with intravenous Ceftriaxone for 6 weeks with signs of recovery documented clinically as well as on imaging studies. Salmonella pyomyositis with osteomyelitis in an immunocompetent patient with no previous hematological or endocrine disorder makes this case an unusual presentation.
Full Text Available Diverticulosis of small intestine is an uncommon disease, with variable clinical presentation. Among the small bowel diverticulae, distal jejunal diverticulae form the most common subset. D iverticulosis of proximal jejunum represents an uncommon pathology of the small bowel. The condition is usually asymptomatic and should be taken into consideration in cases of unexplained malabsorption, anemia, chronic abdominal pain or discomfort. Complications such as diverticulitis, perforation, bleeding or intestinal obstruction appear in 10 - 30% of the patients increasing morbidity and mortality rates. We herein report a case of a 45 year - old man, who presented at the emergency department with acute abdominal pain, vomiting and abdominal distension. Preoperative radiol ogical examination followed by laparotomy revealed multiple proximal jejunal diverticulae, filled with food, adherent to and compressing upon the terminal ileum, causing intestinal obstruction.
An abscess is defined as a collection of pus in various tissues of the body including skin and other organs. Abscesses most commonly are formed on the skin under the armpits, groin areas, and rectal areas. Most abscesses involve microbial infections with few remaining sterile. The treatment of abscesses includes both medical and surgical intervention. In the era of multidrug resistance, isolation and identification of the causative microbe and testing for antimicrobial susceptible patterns assume greater significance for the better management of patients, thereby reducing the resultant morbidity and mortality. Listeria spp. are a group of aerobic and non-spore forming gram-positive bacilli. They are present in the environment, soil, and water. Listeria spp. have also been noted to be present as a normal intestinal flora of animals. They are known for their ability to thrive under both cold and hot environmental conditions. Human infections with Listeria spp. have not been frequently reported, mostly because of the difficulty in laboratory identification and complex clinical presentations. In humans, Listeria spp. have been frequently responsible for food poisoning and neonatal meningitis. Although not considered as a classic pathogen, Listeria spp. are associated with infections in elderly people, pregnant women, newborns, and persons with weakened immune systems. This report presents a case of breast abscess caused by Listeria spp. in a young lactating female belonging to rural India. PMID:28289572
Song, Peipei; He, Jiangjiang; Li, Fen; Jin, Chunlin
Summary 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.
Rusina, Robert; Pazdera, Ladislav; Kulišťák, Petr; Vyšata, Oldřich; Matěj, Radoslav
We describe a patient with corticobasal syndrome in whom neuropathological examination on autopsy revealed Pick and Alzheimer diseases in comorbidity. Corticobasal degeneration is a tauopathy usually associated with asymmetric parkinsonism, parietal lobe involvement, and cognitive impairment. Corticobasal syndrome is the clinical presentation of corticobasal degeneration without neuropathological confirmation. A 66-year-old right-handed man slowly developed speech difficulties, right-hand clumsiness, and forgetfulness. His speech apraxia progressed to mutism with preserved comprehension, and his clumsiness progressed to severe apraxia involving both hands. He developed behavioral changes and severe amnesia. All of these features were consistent with corticobasal syndrome. His loss of episodic, verbal, and visuospatial memory suggested Alzheimer disease; however, beyond his frontotemporal neuropsychological profile, he had few symptoms characteristic of frontal lobe dementia. Magnetic resonance imaging scans showed worsening temporal, frontal, and parietal atrophy, predominant in the left hemisphere. Neuropathological examination at autopsy revealed abundant neuritic plaques and neurofibrillary tangles consistent with fully developed Alzheimer disease, as well as numerous intraneuronal Pick bodies in the frontotemporal lobes. Our findings confirm the importance of clinical and neuropathological correlations in patients with atypical neurodegenerative dementias.
Talsma, Melle; Kroos, MA; Visser, G; Kimpen, JLL; Niezen, KE
Myocarditis attributed to Epstein-Barr virus (EBV) as the sole cause is a rare manifestation. Myocarditis ascribed to EBV infection in combination with other factors has been reported in a few more cases. We report a child who experienced active EBV infection and later, at 19 months of age, received
Sinus venosus ASD are uncommon and constitute 2-3% of interatrial communication. However, sinus venosus ASD with mitral stenosis is an extremely rare condition which was treated successfully by patch closure with left atrialization of superior pulmonary vein and mitral valve replacement.
Kendrick, Jessica B; Risbano, Michael; Groshong, Steve D; Frankel, Stephen K
Escherichia coli Ol57:H7 infection ranges from mild diarrheal illness to severe hemorrhagic colitis but may rarely be complicated by pseudomembranous colitis and/or necrosis. Herein, we report a sporadic case of ischemic E. coli Ol57:H7 pseudomembranous colitis in an adult that occurred during a national outbreak of E. coli Ol57:H7 in the United States.
Conclusion: Extracranial meningiomas are quite rare. The diagnosis of these types of tumors is challenging due to the non specific nature of the symptoms. The anatomic complexity of the region of parapharyngeal space also makes their detection difficult. Imaging modalities can aid in the diagnosis, but pathological examinations are essential in confirming a definite diagnosis.
Talsma, Melle; Kroos, MA; Visser, G; Kimpen, JLL; Niezen, KE
Myocarditis attributed to Epstein-Barr virus (EBV) as the sole cause is a rare manifestation. Myocarditis ascribed to EBV infection in combination with other factors has been reported in a few more cases. We report a child who experienced active EBV infection and later, at 19 months of age, received
Full Text Available A Bochdalek hernia is a posterior congenital defect of the diaphragm, usually on the left hemidiaphragm, caused by a lack of closure of the pleuroperitoneal canal between the eighth and tenth week of fetal life during the embryonic development. It typically presents in the neonatal period with severe respiratory failure. Here we present a 28 year old man with history of episodes of severe dyspnea, pain in epigastric region who arrived to the emergency room, having tachypnoea with oxygen saturation 80% on room air. During his medical work-up we incidentally found gastric volvulus with diaphragmatic hernia. It was managed with reduction of the herniated and rotated stomach and spleen back to the peritoneal cavity and closed the defect by open approach. This type of hernia is uncommon in adults. In this age group, there are two different clinical presentations: asymptomatic patients who are diagnosed incidentally when abdominal organs are found in the thorax in a chest X-ray, and symptomatic patients due to side effects of incarceration, strangulation, hemorrhage and visceral perforation in the chest cavity. [Int J Res Med Sci 2016; 4(5.000: 1749-1751
Full Text Available Pyogenic granuloma is a common, benign, vascular growth of the mucous membrane and skin. Pyogenic granuloma also called lobuler capillary hemangioma and it’s predominantly occurs in children and young adults. Most commonly, lesions are located on the head and neck region. This tumor can be difficult to differentiate clinically from the other pigmented and vascular lesions especially malign tumors. We report the case of an 92 year old male who presented with round, easy bleeding nodule with a yellow crust, 3x3 cm diameter, located on the left auricula. He noted that the lesion had a 2 year history and the lesion grew increasingly in the last 4 month period. Lesion was excised and histopathological examination was reported as pyogenic granuloma.
Mackenzie, H; Mahmalji, W; Raza, A
A 47-year-old man presented to his general practitioner (GP) with painful swelling of his right testis. He was diagnosed with epididymo-orchitis and a two-week course of erythromycin 500 mg four times daily was prescribed by his GP. Despite initial improvement, his symptoms persisted and he was referred to the local urology department. His sexual history revealed one lifetime sexual contact. A midstream urine sample grew non-lactose fermenting coliforms sensitive to ciprofloxacin and a two-week course of ciprofloxacin 500 mg two times daily was prescribed. Despite clinical improvement, a persistent suspicious abnormality on the ultrasound scan of his right testis prompted a right radical inguinal orchidectomy to exclude malignancy. Further diagnostic tests including histopathology excluded malignancy but confirmed tertiary syphilis. A comprehensive literature search revealed only 11 confirmed cases in the past 59 years.
Emmungil, H; Yıldız, F; Gözükara, M Y; Açıkalın, A
Rheumatoid pleural effusion and lung nodules are unusual complications of rheumatoid disease that typically present subsequently to other more common manifestations of rheumatoid illness. However, these complications may occasionally occur before or concurrently with the development of joint manifestations of disease. We report the case of a 41-year-old female patient with rheumatoid pleural effusion and lung nodule arising simultaneously with the onset of joint symptoms. The patient underwent thoracentesis followed by video-assisted thoracoscopic biopsy to result in a diagnosis of rheumatoid pleuritis and nodular disease. A high index of suspicion and coexistence of the cytologic and histopathologic effusion picture characteristic of rheumatoid pleuritis are of clinical importance in making a diagnosis.
Ziesmann, Markus Tyler; Alotaiby, Nouf; Al Abbasi, Thamer; Rezende-Neto, Joao B
We describe an unusual case of a 74-year-old woman who presented with signs and symptoms of small-bowel obstruction and a clinically appreciable, irreducible, left-sided lumbar hernia associated with previous iliac crest bone graft harvesting. Palpation of the hernia demonstrated a small, firm mass within the loops of herniated bowel. CT scanning recognised an intraluminal gallstone at the transition point, establishing the diagnosis of gallstone ileus within an incarcerated lumbar hernia. The proposed explanatory mechanism is that of a gallstone migrating into an easily reducible hernia containing small bowel causing obstruction at the hernia neck by a ball-valve mechanism, resulting in proximal bowel dilation and thus hernia incarceration; it remains unclear when the stone entered the hernia, and whether it enlarged in situ or prior to entering the enteral tract. This is only the second reported instance in the literature of an intraluminal gallstone causing hernia incarceration.
Full Text Available Tuberculosis of the musculoskeletal system is generally confined to bones and joints. The surrounding soft tissue is secondarily infected. Tuberculous bursitis, tenosynovitis and primary pyomyositis are rarer manifestations of the disease. Of these, primary tuberculouspyomyositis is probably the rarest entity. We report a case of tubercular myositis of infraspinatus in an 8 year-old female who presented with pain, low grade fever, weight loss, anorexia, progressively increasing pain in the scapular region and restriction of movements. There was no history of trauma, diabetes, immunosuppression, corticosteroid usage, or renal failure. History of contact was present. Tenderness was present along the medial border of scapula and movements of upper extremity requiring movement of the scapula were painful and grossly restricted. MRI of the scapulothoracic region and shoulder revealed small amount of fluid along medial border of scapula with T2 hyperintensity of infraspinatus. Histopathology showed caseous necrosis, inflammatory cells and granulomatous cells suggestive of tuberculosis. Polymerase Chain Reaction for Mycobacterium tuberculosis was found to be positive. Patient was started on four-drug antitubercular treatment and regular dressings. The patient's general condition improved and at 4 weeks post starting ATT, there was no pain and the patient was able to perform complete range of movement. This is probably the first reported case of tubercular myositis of infraspinatus in an immunocompetent patient without any identifiable focus elsewhere in the body. Rarity of the condition, presence of characteristic findings on MRI and histopathology make the case illustrative for young Orthopaedics surgeons. [Int J Res Med Sci 2016; 4(8.000: 3619-3621
Full Text Available Abstract We present the case of a 20-year-old male who underwent successful surgical correction of pectus excavatum with the Highly Modified Ravitch Repair (HMRR. At 29 months the attempted operative removal of the Ravitch bar was unsuccessful despite the impression of adequate bar location on chest x-ray. Subsequent imaging with computed tomography was unclear in determining whether the bar was supra or infra-diaphragmatic due to the tissue distortion subsequent to initial surgery. Video assisted thoracoscopic surgery (VATS successfully retrieved the bar and revealed that it was not in the thorax, but had migrated to the intra-abdominal bare area of the liver, with no evidence of associated diaphragmatic defect or hernia. Intra-abdominal pectus bar migration is a rare clinical entity, and safe removal can be facilitated by the use of the VATS technique.
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.
Full Text Available A 52 year old woman presented with a history of asymptomatic skin lesions over left leg for the past 4 months. On examination she had multiple skin coloured papules and plaques over left leg. Oedema was also seen over left leg. Histopathology and immunohistochemistry proved the diagnosis of malignant melanoma. Radiological investigation showed metastasis to lung, liver and brain. The patient was asymptomatic at the time of admission but she developed rapid metastasis within a very short span of time. This case is reported for the rare atypical presentation of malignant melanoma.
Grecu, F; Filip, B; Moţoc, I; Andriescu, Nadia; Lăpuşneanu, A; Ursaru, Manuela
The Amyand hernia is an uncommon variant of the inguinal hernia, rarely recognised before the surgical treatment because of the confusion with a strangled hernia. In spite of this, the clinical presentation seems to follow a well determined pathway, so it is possible to state that the uncorrect diagnosis is to be attributed to the ignorance of this variant of hernia. We present two consecutive case reports of acute appendicitis founded in an inguinal hernia sac. The clinical presentation depended on the inflammation extension inside the hernia sac and the presence or not of peritoneal contamination. The patients were admitted for a painful pseudotumor in the inguinal region with irreducibility, mimicking strangled inguinal hernia with acute inflammatory syndrome. Intraoperatively we have found a hernia sac with a phlegmonous/gangrenous appendix inside. Appendectomy was performed, followed by hernioplasty (retrofunicular technique) without prosthetic material). The operation followings were favorable. We conclude that amyand hernia must be considered as differential diagnosis of apparently strangled inguinal hernias. Technical precautions and antibioprophylaxy applied during surgery may prevent septic complications after hernioplasty. The hernia repair must be performed without prosthetic material and using exclusively resorbable sutures.
Lee, Jee-Young; Min, Ju-Hong; Hong, Yoon-Ho; Sung, Jung-Joon; Park, Sung-Hye; Park, Seong-Ho; Lee, Kwang-Woo; Park, Kyung Seok
Centronuclear myopathies are clinically and genetically heterogenous diseases with common histological findings, namely, centrally located nuclei in muscle fibers with a predominance and hypotrophy of type 1 fibers. We describe two cases from one family with autosomal dominant centronuclear myopathy with unusual clinical features that had initially suggested distal myopathy. Clinically, the patients presented with muscle weakness and atrophy localized mainly to the posterior compartment of th...
McNeill, Caitlin Jane; Sinnott, Joseph Dalby; Howlett, David
An interesting and rare case where a longstanding multinodular goitre causes sudden onset symptoms of superior vena cava obstruction. The symptoms were caused by bilateral brachiocephalic vein compression against the first rib. The patient's symptoms included upper limb and facial swelling, whereas her lower limbs were not oedematous (figure 1). The patient underwent CT imaging which showed a multinodular retrosternal thyroid filling the space created by the first rib, sometimes known as the thoracic outlet. The goitre expanded sufficiently to compress the brachiocephalic vein on both sides as shown in figures 2 and 3. This prevented venous drainage from the upper limbs and head. The goitre was also large enough to cause deviation of the trachea although there was no airway compromise. This case is interesting as it is very rare for a benign condition such as a multinodular goitre to cause symptoms of superior vena cava obstruction.
Full Text Available Synovial sarcomas in the head and neck are extremely rare tumors, especially in the pediatric population. 3–5% of synovial sarcomas occur in the head and neck region displaying varied imaging and histopathological features resulting in frequent misdiagnosis. These tumors have a poor prognosis; hence early diagnosis and accurate classification based on imaging, histopathology, and immunohistochemistry are critical for prompt treatment. To the best of our knowledge, imaging findings of pediatric retropharyngeal lipomatous synovial sarcoma have not been reported to date in English medical literature. We report, for the first time, a rare case of retropharyngeal lipomatous synovial sarcoma in a ten-year-old child and discuss the case-specific imaging findings in our patient using magnetic resonance imaging and computed tomography.
Full Text Available Uterine leiomyomas are the most common benign pelvic tumors in women of reproductive age group. Parasitic or wandering leiomyomas are known for their rarity, atypical clinical presentation and unusual location, posing challenge in making radiological and clinical diagnosis. More recently, rise in incidence of secondary parasitic leiomyomas has been reported as a complication of laparoscopic myomectomy and morcellations. We report an interesting case of primary parasitic leiomyoma which initially seemed to be a case of ovarian tumor. A 38 year old woman presented with chief complaints of pain in lower abdomen since 4 months with abdominal swelling since 2 months with CT abdomen suggestive of 8.7x5.2 cm exophytic right ovarian neoplasm with differential diagnosis of broad ligament fibroid in pouch of douglas. She had no previous history of abdominal or laparoscopic myomectomy and no family history of genital tract and breast malignancy. On clinical examination, no mass could be palpated per abdominally but a firm mass of 8 x6 cm size was felt through posterior fornix. Intraoperatively, a solid mass with lobulated surface was noted in pouch of Douglas attached through a thin vascular pedicle to sigmoid colon. Differential diagnosis considering location of tumor and pathological examination included possibility of gastrointestinal stromal tumor or extra-gastrointestinal stromal tumor or wandering leiomyoma. However, on histopathological slide examination (using immunohistochemistry, GIST was ruled out and diagnosis of parasitic fibroid was confirmed. Therefore, while dealing with pelvic tumors with atypical clinical presentation, possibility of these rare tumors have to be kept in mind for appropriate management. [Int J Reprod Contracept Obstet Gynecol 2016; 5(2.000: 545-548
Full Text Available Fat embolism syndrome (FES typically consists of a triad of neurological, pulmonary, and cutaneous symptoms. There exist few case reports of FES involving central nervous system (CNS only without pulmonary involvement. In most of such cases, CNS involvement is partial, and patients recover fully neurologically within days. We report a rare and unusual case of massive cerebral fat embolism that led to brain death in trauma patient.
Full Text Available Left ventricular diverticulum is a rare congenital malformation consisting of a localized protrusion of the endocardium and myocardium from the free wall of the left ventricle (LV. The prevalence of the disease is 0.26% in nonselected patients who underwent cardiac catheterization. It is believed that the etiology is an intrinsic abnormality developing during embryogenesis. It often does not cause any symptoms. We report a case of isolated left ventricular diverticulum with complaints of transient ischemic attack.
Full Text Available The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED is the most common type and is usually transmitted as an X-linked recessive trait. It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.
Agbor, Valirie Ndip; Njim, Tsi; Aminde, Leopold Ndemnge
Background Inguinal hernias in women of reproductive age containing the ovary are very rare. When they occur in this age group, they are mostly associated with malformations of the urogenital system. Prompt surgical intervention is the key to ensure survival of the ovary. Here we present a case of an ectopic ovary presenting like an acute appendicitis. Case presentation A 16-year-old Cameroonian girl presented at our emergency service with an acute exacerbation of a mild and intermittent righ...
Objective. The aim of this case report was to present our patient suffering from CL, and to evaluate clinical presentation, diagnostic and therapeutic difficulties in this rare condition. Case Report. A 30-year-old female patient was admitted to our Hospital due to localized loose and sagging skin of abdomen, induced by prior cesarean section 6 years ago. CL has been diagnosed based on the clinical picture and pathohistological appearance. Conclusion. Reconstructive surgery provides a dramatic cosmetic improvement with significant psychosocial benefit. Repeated surgical procedures may be required to correct the lax skin, which worsens with age.
Lee, Jee Young; Min, Ju Hong; Hong, Yoon Ho; Sung, Jung Joon; Park, Sung Hye; Park, Seong Ho; Lee, Kwang Woo; Park, Kyung Seok
Centronuclear myopathies are clinically and genetically heterogenous diseases with common histological findings, namely, centrally located nuclei in muscle fibers with a predominance and hypotrophy of type 1 fibers. We describe two cases from one family with autosomal dominant centronuclear myopathy with unusual clinical features that had initially suggested distal myopathy. Clinically, the patients presented with muscle weakness and atrophy localized mainly to the posterior compartment of the distal lower extremities. Magnetic resonance imaging revealed predominant atrophy and fatty changes of bilateral gastrocnemius and soleus muscles. This report demonstrates the expanding clinical heterogeneity of autosomal dominant centronuclear myopathy.
Ponikowski, Piotr; Jankowska, Ewa A
Acute heart failure constitutes a heterogeneous clinical syndrome, whose pathophysiology is complex and not completely understood. Given the diversity of clinical presentations, several different pathophysiological mechanisms along with factors triggering circulatory decompensation are involved. This article discusses the available evidence on the pathophysiological phenomena attributed or/and associated with episodes of acute heart failure and describes different clinical profiles, which, from a clinical perspective, constitute a key element for therapeutic decision-making. Copyright © 2015 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.
Joshi, Abhijit; Acharya, Swetha; Anehosur, Venkatesh S; Tayaar, Amsavardani S; Gopalkrishnan, K
Mycetoma is a chronic granulomatous infection of skin and subcutaneous tissue, which may involve bone. The disease is caused by true fungi (eumycetoma) or filamentous bacteria (actinomycetoma). Both types of organism are important soil saprophytes, and therefore infection is normally acquired by traumatic inoculation of the skin by contaminated material. Clinically, mycetomas are characterized by tumefaction, draining sinuses and discharging grains. The grains are aggregates of fungal hyphae or bacterial filaments, and grain size, colour and consistency provide the initial clue to the causative organism. To our knowledge, this probably is the first case report of oral eumycetoma of infancy. Review of literature shows only ten cases of eumycetoma involving the head and neck, including the present case. Histological examinations of the biopsies were the cornerstone in the diagnosis of mycetoma. The distinction between eumycetoma and actinomycetoma is essential for treatment. Direct microscopic examination of the grain and histopathological examination, using histochemical staining will distinguish between the two. Treatment consists of long courses of antifungals and antibacterials agents, often combined with surgery. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.
Full Text Available Catatonia is not a usual clinical presentation of subacute sclerosing panencephalitis (SSPE, especially in the initial stages of illness. However, there is only one reported case of SSPE presenting as catatonia among children. In this report, however, there were SSPE-specific changes on EEG and the catatonia failed to respond to lorazepam. We describe a case of SSPE in a child presenting as catatonia that presented with clinical features of catatonia and did not have typical EEG findings when assessed at first contact. He responded to lorazepam and EEG changes emerged during the course of follow-up.
Pang, L.M.; Griffith, J.F.; Metreweli, C. [Dept. of Diagnostic Radiology and Organ Imaging, Chinese University of Hong Kong (Hong Kong); Roebuck, D.J. [Dept. of Diagnostic Radiology and Organ Imaging, Chinese University of Hong Kong (Hong Kong); Dept. of Radiology, Great Ormond Street Hospital for Children, London (United Kingdom); Kumta, S.M. [Dept. of Orthopaedics and Traumatology, Chinese University of Hong Kong (Hong Kong)
Alveolar soft-part sarcoma (ASPS) is a rare tumour. Certain distinctive clinical and radiological features suggest the correct diagnosis. There is moderate predilection for young women. ASPS almost always arises in skeletal muscle and occurs most frequently in the lower limbs. There is often a long clinical history and a large mass at presentation. Two young females with ASPS presented with very vascular tumours in the thigh, with prominent intra- and extra-tumoural blood vessels. The imaging findings and the existing literature are reviewed. (orig.)
Fiorencis, Andrea; Quadretti, Laura; Bacich, Daniela; Chiodi, Elisabetta; Mele, Donato; Fiorencis, Roberto
Isolated left ventricular noncompaction in adults is uncommon. The most frequent clinical manifestations are heart failure due to left ventricular systolic dysfunction and supraventricular and ventricular arrhythmias, which may be sustained and associated with sudden death. Thromboembolic complications are also possible. We report the case of an adult patient with isolated left ventricular noncompaction who came to our observation because of acute cerebral ischemia, an initial presentation of the disease only rarely described.
Valle Feijóo, M L; Bermúdez Sanjurjo, J R; González Vázquez, L; Rey Martínez, M; de la Fuente Aguado, J
Acute intermittent porphyria (AIP) is a rare condition characterized by abdominal pain and a wide range of nonspecific symptoms. We report the case of a woman with abdominal pain and syndrome of inappropriate antidiuretic hormone secretion (SIADH) as clinical presentation of AIP. The diagnosis was achieved through the etiologic study of the SIADH. Copyright © 2015 Elsevier España, S.L.U. y Sociedad Española de Medicina Interna (SEMI). All rights reserved.
Campos Cynthia Resende; Limongi João Carlos Papaterra; Machado Flávia Costa Nunes; Brotto Mário Wilson Iervolino
Spinal myoclonus is a rare movement disorder characterized by myoclonic involvement of a group of muscles supplied by a few contiguous segments of the spinal cord. Structural lesions are usually the cause, but in primary spinal myoclonus the etiology remains unknown. We present the case of a 26-year-old woman with cervical spinal myoclonus in which both clinical and electromyographic findings pointed to the segment C1-C3 as the origin of the myoclonus. Laboratorial examinations were normal an...
Since last four decades the information and communication technologies are relying on the semiconductor materials. Currently a great deal of attention is being focused on adding spin degree-of-freedom into semiconductor to create a new area of solid-state electronics, called spintronics. In spintronics not only the current but also its spin state is controlled. Such materials need to be good semiconductors for easy integration in typical integrated circuits with high sensitivity to the spin orientation, especially room temperature ferromagnetism being an important desirable property. GaN is considered to be the most important semiconductor after silicon. It is widely used for the production of green, blue, UV, and white LEDs in full color displays, traffic lights, automotive lightings, and general room lighting using white LEDs. GaN-based systems also show promise for microwave and high power electronics intended for radar, satellite, wireless base stations and spintronic applications. Rare earth (Yb, Eu, Er, and Tm) doped GaN shows many interesting optoelectronic and magnetoptic properties e. g. sharp emission from UV through visible to IR, radiation hardness, and ferromagnetism. The talk will be focused on fabrication, optoelectronic (photoluminescence, cathodeluminescence, magnetic, and x-ray photoelectron spectroscopy) properties of some rare earth doped GaN and InGaN semiconductor nanostructures grown by plasma assisted molecular beam epitaxy (MBE) and future applications.
Full Text Available BACKGROUNDPatient’s anamnesis is of primary importance in determining hemostatic disorders. Based on anamnestic data, a clinician may decide for further laboratory tests. We must consider an acquired bleeding disorder in a patient with unusual, unexpected and prolonged bleeding episodes. In this article we will describe two rare acquired hemostatic disordes.TWO CASE REPORTSOur first patient had prolonged bleeding after a pacemaker implantation. We diagnosed him with acquired von Willebrand syndrome. Further on, the patient required a planned surgical procedure. In our second case we describe a patient with unusual and excessive skin bruising and prolonged bleeding after teeth extractions. He was diagnosed with acquired hemophilia.CONCLUSIONIn the assessment of a patient with a potential acquired bleeding disorder we must first rule out the most common causes, such as iatrogenic ones. But, because of high morbidity and mortality rates, we must also be aware of some rare acquired bleeding disorders. In case of uncertainty, we should consult with a hematologist.
Foray, Nathalie; Hudali, Tamer; Papireddy, Muralidhar; Gao, John
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...
Full Text Available Hepatoblastoma (HB is a rare malignant tumour of the liver and usually occurs in the first three years of life. Hepatoblastoma in adolescents and young adults is extremely rare; nevertheless the prognosis is much worse than in childhood, because these kinds of tumours are usually diagnosed late. Characteristic imaging and histopathological and AFP levels help in the diagnosis of hepatoblastoma. Paraneoplastic features of hepatoblastoma are not uncommon at presentation and include erythrocytosis, thrombocytosis, hypocalcaemia, isosexual precocious puberty, and rarely hypoglycaemia. Even though hypoglycaemia is commonly seen in hepatocellular carcinoma, its association with hepatoblastoma is very rare. We present a case of 15-year-old male patient presenting with complaints of recurrent hypoglycaemic seizures ultimately leading to diagnosis of hepatoblastoma. Managed successfully with neoadjuvant chemotherapy, surgery and adjuvant chemotherapy with adriamycin and cisplatin based regimens. An extensive review of literature in the PubMed and MEDLINE did not reveal much data on paraneoplastic recurrent hypoglycaemic seizures as an initial presentation of hepatoblastomas in adolescents and young adults.
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.
Full Text Available Carcinomas of unknown primary origin (CUP represent a diagnostic and therapeutic challenge. Squamous cell CUP located in the male pelvis are very rare. We describe a case of a locally advanced squamous cell CUP occurring in the male pelvis presenting as perineal abscess and urethral stenosis and diagnosed by means of transperineal needle biopsy.
Niemann, C.U.; Jurlander, J.; Daugaard, G.
smears. Determination of the ADAMTS13-activity is now becoming available as a routine analysis. We present two cases that illustrate the multi-facetted clinical presentation under which TTP occurs. The importance of access to ADAMTS13 measurements is stressed Udgivelsesdato: 2009/1/26...
Marina Stanislavovna Svetlova
Full Text Available The paper characterizes the specific features of the anatomy and physiology of the hip joint, the clinical presentation of coxarthrosis and presents current methods for the diagnosis and treatment of the disease. It gives the results of a trial evaluating the impact of long-term (one-year theraflex therapy on the symptoms of hip osteoarthrosis.
Pandey, Divya; Sharma, Ritu; Salhan, Sudha
Spontaneous umbilical endometriosis occurring in absence of any previous abdominal or uterine surgery is extremely atypical. Its association with umbilical hernia is very rare and hernia getting spontaneously resolved has not been reported in literature so far. Here we report a case of a patient with spontaneous umbilical endometriosis associated with umbilical hernia which led to spontaneous hernia reduction. This was also associated with multiple uterine fibromyoma and bilateral ovarian endometrioma which were simultaneously treated by total abdominal hysterectomy with bilateral salpingo-oopherectomy along with surgical excision of the endometriotic tissue and repair of the abdominal wall defect. To the best of our knowledge, this is the first described case of spontaneous umbilical hernia reduction due to development of endometriosis.
Selvaganesh, M; Murali, A; Mookambik, R V; Jayachandran, K
38 year old woman was admitted with acute onset of quadriplegia. Biochemical investigation revealed severe hypokalaemia with hyperchloraemic metabolic acidosis, alkaline urine, and positive urinary anion gap which are the hallmark of distal tubular acidosis. In addition she also had hypophosphataemia, normoglycaemic glycosuria, aminoaciduria, and hyperphosphaturia suggestive of proximal tubular dysfunction. Further evaluation confirmed the diagnosis of Sjogren's syndrome. Interestingly our patient also had carpopedal spasm despite normal calcium and magnesium level. Quadriplegia and carpopedal spasm improved with correction of hypokalaemia and acidosis. Proximal tubular abnormalities (except albuminuria) were normalised at the time of discharge. Distal tubular acidosis is a well known renal manifestation of Sjogren's syndrome. But this type of transient proximal tubular dysfunction with distal tubular acidosis in Sjogren's syndrome is very rare and hypokalaemic tetany also deserves mention.
Full Text Available Turner′s syndrome also called as Ullrich Turner′s syndrome, is a disease of unclear pathogenesis characterized by complete or partial absence of one sex chromosome, with or without cell line mosaicism in a phenotypic female with short stature. Various anomalies result in a constellation of features, of which the most disturbing is primary amenorrhea due to gonadal dysgenesis. Hormone therapy in these patients can often result in successful menstruation, and scope for subsequent pregnancy because of anatomically normal uterus and vagina. Coexisting Mullerian agenesis in these patients can jeopardize the chances of future pregnancy as they have associated structural abnormalities of the uterus and vagina. We report a rare case of middle-aged female with Turner′s syndrome and Mullerian agenesis having absent secondary sexual characters and missing uterus with incompletely formed vagina.
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.
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 unde