An Erupted Dilated Odontoma: A Rare Presentation

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Gaurav Sharma

2016-01-01

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

Revisiting Cementoblastoma with a Rare Case Presentation

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Vijayanirmala Subramani

2017-01-01

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

A rare case of cervical epidural extramedullary plasmacytoma presenting with monoparesis

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Turk Okan

2017-03-01

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

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

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Freeman, Amanda R; Wills, Stephen M

2018-06-01

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

Congenital Uterine Arteriovenous Malformation Presenting as Postcoital bleeding: A Rare Presentation of a Rare Clinical Condition

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Neha Agarwal

2017-01-01

Full Text Available Congenital uterine arteriovenous malformation (AVM is an extremely rare condition with <100 cases documented in literature. We report multiparous women presenting to us with a history of postcoital bleed. Initial Doppler ultrasonography was consistent with features suggestive of AVM. Subsequently, computed tomography (CT angiography confirmed the diagnosis. Embolization was chosen as the treatment because of the large extension of AVM and the risk of hemorrhage during hysterectomy. The patient was discharged in a stable condition with a plan of repeat embolization in the next setting. At 6 and 12 weeks of follow-up, she did not experience any further episodes of bleed. The purpose of this case report is to highlight the salient clinical features, diagnosis, and the management options available for this rare clinical condition.

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

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

2009-11-15

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

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

International Nuclear Information System (INIS)

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

2009-01-01

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

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

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Alagozlu Hakan

2007-11-01

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

Fibrolamellar Hepatocellular Carcinoma Presenting as Obstructive Jaundice: Uncommon Presentation of a Rare Entity

International Nuclear Information System (INIS)

Arora, Richa

2015-01-01

Fibrolamellar hepatocellular carcinoma is a rare primary malignant liver tumor, significantly different from generic hepatocellular carcinoma with distinct demographics, risk factors, imaging features, histopathology and prognosis. Unlike conventional hepatocellular carcinoma, it presents in young individuals with no preexisting hepatitis or cirrhosis and does not cause elevation of serum alpha feto proteins in most cases. This paper presents a case report of this rare tumor in a young female with an unusual clinical manifestation of obstructive jaundice (which has not been reported so far) along with a review of its imaging and pathological features, with treatment options. Fibrolamellar HCC is a rare variant of classic HCC with different epidemiology, risk factors, clinical manifestations, radiological, pathological and prognostic features. Therefore, it is important to be familiar with the entity for its early diagnosis and management

Neonatal hemophilia: a rare presentation

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Nuno Ferreira

2015-12-01

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

Rare Presentation of Left Lower Lobe Pulmonary Artery Dissection

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René Hako

2017-01-01

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

Longitudinal stress fracture of the femur: A rare presentation

International Nuclear Information System (INIS)

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

2016-01-01

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

Schwanomma From Cervical Sympathetic Chain Ganglion - A Rare Presentation.

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Asma, A Affee; Kannah, E

2015-10-01

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

Mining with Rare Cases

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Weiss, Gary M.

Rare cases are often the most interesting cases. For example, in medical diagnosis one is typically interested in identifying relatively rare diseases, such as cancer, rather than more frequently occurring ones, such as the common cold. In this chapter we discuss the role of rare cases in Data Mining. Specific problems associated with mining rare cases are discussed, followed by a description of methods for addressing these problems.

Carcinoma caecum - a rare presentation

International Nuclear Information System (INIS)

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

2010-01-01

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

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

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Ashalata Gannepalli

2015-01-01

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

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

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C Anand Kumar

2010-01-01

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

Glial Heterotopia of the orbit: A rare presentation

Science.gov (United States)

2011-01-01

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

Glial Heterotopia of the orbit: A rare presentation

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Sitaula Ranju

2011-11-01

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

Brown′s syndrome with ocular albinism: Case report of a rare presentation and literature review

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Soumya Nambiar

2015-01-01

Full Text Available We report a rare case of Brown′s syndrome associated with ocular albinism in a 10-year-old boy. This report highlights the importance of further analysis of cases of Brown′s syndrome and throws some light on the etiology and association of this rare condition.

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

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Antonio Adolfo Guerra Soares Brandão

2012-03-01

Full Text Available Chronic meningococcemia is a rare clinical presentation within the spectrumof infections due to Neisseria meningitidis, which was first described in 1902.It is defined as a chronic and benign meningococcal bacteremia withoutmeningeal signs or symptoms with at least one week’s duration, characterizedby intermittent or continuous fever, polymorphic cutaneous rash, and migratoryarthropathy. The incidence is believed to be around 1:200,000 inhabitants. Itaffects predominantly young people and adults, and it is equally distributedbetween genders. Diagnosis may be challenging in the early stages of thedisease because of the difficulty in isolating Neisseria meningitidis (it reaches74% of positivity in advanced stages. Recently, the use of PCR for detectingNeisseria sp antigen in skin biopsies specimens has been considered for thoseculture-negative cases. The authors report a case of a 54-year-old femalepatient who sought medical attention for a five-day fever followed by arthralgiaand skin lesions predominantly in the lower limbs. The patient progressed toa toxemic clinical status that improved after the administration of antibiotictherapy, which consisted of oxacillin and ceftriaxone. The diagnosis of chronicmeningococcemia was performed after the isolation of Neisseria meningitidisin two different blood sample cultures. This is, to our knowledge, the firstcase of chronic meningococcemia described in Brazil (up to the writing of thisreport.

A Rare Presentation of Odontogenic Keratocyst Mimicking an Antral Polyp

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

2014-01-01

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

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

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Pradnya S Bhadarge

2017-01-01

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

Rare Asymptomatic Presentation of Omental Mass from Cesarean ...

African Journals Online (AJOL)

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

A Rare Presentation of Odontogenic Keratocyst Mimicking an Antral Polyp

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S Sudhakar

2014-02-01

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

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

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L Flood

2010-09-01

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

Schwanomma From Cervical Sympathetic Chain Ganglion – A Rare Presentation

Science.gov (United States)

Asma, A. Affee

2015-01-01

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

Ainhum - A Rare Case Report.

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Prabhu, Ravi; Kannan, Narayanasamy Subbaraju; Vinoth, Sundaresan; Praveen, Chinnappan Balasubramanian

2016-04-01

The term 'AINHUM' is derived from the African word meaning 'to saw or cut'. True ainhum otherwise called dactylolysis spontanea is a condition involving soft tissue or digits with constricting rings commonly presenting in fifth toes, usually bilateral. It is to be differentiated from Pseudo-ainhum that occurs secondary to some hereditary and nonhereditary diseases that lead to annular constriction of digits. We report a rare case of true ainhum involving the left fourth toe only. It is a very rare case and a very few were reported worldwide. The highest incidence of ainhum has been reported in South Africa and South America. It is rarely reported in India. Ainhum when diagnosed and treated in early stages can be prevented from progressing to mutilating deformities.

Perforating pilomatrixoma showing atypical presentation: A rare clinical variant

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Nevra Seyhan

2018-03-01

Full Text Available Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a rare benign skin tumor arising from hair follicle stem cells. The most common localization is the head and neck region. Female/male ratio is 3/2. It shows deep subcutaneous placement and occurs in the first two decades of life. Its diameter ranges from 0.5 cm to 3 cm. Multiple lesions are rarely seen. Histopathologically it is characterized by basoloid and ghost cells. Perforating type is a rare clinical variant. Treatment is surgical excision. Our case is presented to draw attention to a rare clinical variant of pilomatrixioma.

Ambras syndrome: A rare case report

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A Ishita

2016-01-01

Full Text Available Congenital generalized hypertrichosis associated with gingival hyperplasia are rare cases published in literature. The frequency incidence of generalized congenital hypertrichosis is about one to billions of people. Hypertrichosis and gingival hyperplasia are termed as Ambras syndrome (AS, which can be noticed at birth or soon after. Here, is a rare case report of 4-year-old male child who presented with generalized hypertrichosis with gingival fibromatosis and dysmorphic facial features.

Suprasellar ganglioglioma presenting with diabetes insipidus in a young boy: a rare clinical presentation.

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Gupta, Ruchika; Suri, Vaishali; Arora, Raman; Sharma, Mehar C; Mishra, Shashwat; Singh, Manmohan; Sarkar, Chitra

2010-02-01

Gangliogliomas are rare tumors composed of an admixture of glial and neuronal components. These usually occur in young patients, who present with therapy-resistant seizures. Clinical presentation of ganglioglioma with diabetes insipidus is extremely rare with only one case reported earlier in the available literature. Due to this rarity, ganglioglioma is not considered in the differential diagnosis in a patient with diabetes insipidus. A 7-year boy presented with polyuria, polydipsia, and progressive visual loss for 18 months. Investigations revealed diabetes insipidus. Radiographic studies of the brain showed a solid and cystic mass in the suprasellar region effacing the third ventricle. Intraoperatively, diffuse thickening of bilateral optic nerves and optic chiasma was noted and a diagnosis of optic glioma was considered. A biopsy of the mass was taken, which on histopathological examination showed features of ganglioglioma. The patient was referred for further radiotherapy but was lost to follow-up. Diabetes insipidus as a presenting symptom of ganglioglioma is extremely rare. This benign tumor should be kept in mind in patients with central diabetes insipidus and a suprasellar mass lesion. This report describes the second such case in the literature.

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

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Lin Da Aw

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

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

Science.gov (United States)

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

2016-01-01

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

Scapulothoracic Dissociation: A Rare Variant: A Case Report

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Rajat Jangir

2014-07-01

Full Text Available Scapulothoracic dissociation is a rare injury involving separation of scapula from the thorax along with the upper extremity. Majority of the patients have concomitant neurovascular injury and the prognosis is uniformly poor in such cases. We present a case of scapulothoracic dissociation with comminuted fracture of scapula and acromioclavicular joint disruption without neurovascular deficit. There were associated avulsion fractures of the spinous processes of vertebrae (T3-T5. Such presentation is rare in an already rare scapulothoracic dissociation injury. A discussion regarding the probable mechanism of injury, management and prognosis is presented.

A Rare Cutaneous Adnexal Tumour with a Rare Presentation

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Vijayalaxmi S. Patil

2016-04-01

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

Synovial sarcoma: a rare presentation of parapharyngeal mass.

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

2010-06-01

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

Acral pityriasis versicolor – A rare clinical presentation

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Tasleem Arif

2015-04-01

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.

Osteolytic bone lesions – A rare presentation of AML M6.

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Geetha N.

2015-02-01

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

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

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Gozar Liliana

2014-08-01

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

Osteolytic Bone Lesions - A Rare Presentation of AML M6.

Science.gov (United States)

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

2015-01-01

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

Tetra-phocomelia: a rarest of rare case.

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Shukla, Anil Kumar; Sanjay, S C; Krishna, L; Krishnappa, N

2015-03-01

We present a rarest of rare case of Tetra-Phocomelia evaluated by antenatal Ultrasonography. It is a condition seen in 0.62 per 100,000 live births. An ultrasonogram was done at 18 wk of pregnancy to assess the fetus and after termination gross specimen was evaluated and X-ray infantograms were done to confirm the findings. The case showed classic Tetra-Phocomelia with limbs like flippers of a seal. Our findings make it rarest of rare as only few cases have been so far reported.

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

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Ahmed M. Abbas

2017-03-01

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

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

OpenAIRE

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

2016-01-01

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

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

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Abbas Al-Ramzi

2017-06-01

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

Rare presentation of Kyrle′s disease in siblings

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Viswanathan Seethalakshmi

2008-01-01

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

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

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

2017-11-06

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

A rare case of cleidocranial dysplasia presenting with failure to thrive

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

2015-01-01

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

Occult spontaneous lateral intrasphenoidal encephalocele: A rare presentation

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Shahina Bano

2013-01-01

Full Text Available Basal encephaloceles are extremely rare congenital malformations. Advanced cross-sectional imaging modalities like computed tomography and magnetic resonance imaging are necessary for diagnosing the asymptomatic, occult basal encephalocele and planning the surgical approach. We present an interesting case of clinically silent right-sided lateral intrasphenoidal encephalocele through a large bony defect.

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

LENUS (Irish Health Repository)

Romics, Laszlo

2009-01-01

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

[The hidradenocarcinoma of the wrist - an extremely rare malignant carcinoma: case presentation and literature review].

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Arsalan-Werner, A; Mentzel, T; Kempf, B; Sauerbier, M

2013-10-01

Hidradenocarcinomas are rare, yet highly malignant tumors of eccrine sweat gland origin. Due to its locally aggressive growth and likelihood for metastasis it should be considered as a differential diagnosis especially in case of suspicious intraoperative findings. We report the case of a 73-year-old female patient presenting with a hidradenocarcinoma of the wrist. Treatment of hidradenocarcinomas is similar to the treatment of sarcomas: The first step is an incisional biopsy and obtaining an expert second opinion on the histopathological diagnosis as well as staging. The second step is a clear margin resection of the tumor and the plastic-surgical reconstruction. A long-term follow-up is mandatory to detect potential recurrence or metastasis. © Georg Thieme Verlag KG Stuttgart · New York.

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

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Leena Jayabackthan

2013-01-01

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

Biliary Dyskinesia as a Rare Presentation of Metastatic Breast Carcinoma of the Gallbladder: A Case Report

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A. Markelov

2011-01-01

Full Text Available Background. Breast carcinoma is the most common malignancy in women worldwide. It is most commonly associated with metastases to the liver, lung, bone, and the brain. Invasive lobular carcinoma is a less common pathology with slightly higher metastases to the upper gastrointestinal tract. Invasive lobular carcinoma metastasis to the gallbladder is extremely rare. Method. In this paper we are presenting a case of a 67-year-old female with metastases of invasive lobular breast cancer to the gallbladder six years after her therapy. Conclusion. This case clearly signifies the nature of the micrometastatic foci of the invasive lobular carcinoma even many years after a successful treatment.

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

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Aline Lariessy Campos Paiva

2017-05-01

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

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

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Anirban Sarkar

2013-01-01

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

Adult primary hypoparathyroidism: A rare presentation

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Ashima Datey Chakrabarty

2013-01-01

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

Bilateral Supernumerary Kidney: A Very Rare Presentation

International Nuclear Information System (INIS)

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

2014-01-01

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

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

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Waseem M Hajjar

2012-01-01

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

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

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Sunil Kumar

2012-03-01

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

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

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Jayachandran, S; Kumar, M Suresh

2016-01-01

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

Splenic abscess: a rare presentation

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Mohit Bhatia

2015-01-01

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

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

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

2013-02-01

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

Bullosis Diabeticorum: Rare Presentation in a Common Disease

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Vineet Gupta

2014-01-01

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

Bilateral Supernumerary Kidney: A Very Rare Presentation

Science.gov (United States)

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

2014-01-01

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

Rare presenting features of carcinoma of stomach – Leptomeningeal carcinomatosis, breast metastasis, malignant pleural effusion, and dermatoses: A report of two cases and review of literature

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Dhruv Pankaj Mehta

2017-01-01

Full Text Available Gastric cancer can have protean manifestations, usual symptoms mimicking those of peptic ulcer disease. Gastric adenocarcinomas have rarely been reported with leptomeningeal carcinomatosis (LMC and dermatoses as initial presenting features. It is also difficult to diagnose breast metastasis of gastric carcinoma due to its rarity. We report two such cases with rare initial presentation. Our first case was a 46-year-old male who presented with LMC. Our second case was a 24-year-old male whose initial complaints were shortness of breath, bilateral breast lumps, and skin discoloration. Both cases on further investigations were found to have primary tumors in the stomach.

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

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Duminda Subasinghe

2016-01-01

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

Cerebral Venous Thrombosis and Venous Infarction: Case Report of a Rare Initial Presentation of Smoker’s Polycythemia

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Mihir Raval

2010-11-01

Full Text Available Introduction: Cerebral venous thrombosis is a rare initial presentation of polycythemia. If diagnosed early, treatment can reduce mortality and morbidity significantly. Often it may present with headache as the only complaint, and thus the diagnosis is likely to be missed. Case Presentation: A medically stable 31-year-old male, a chronic smoker with a ∼17 pack-year history of smoking, was admitted to the emergency room with a 2-week history of gradually worsening, severe, throbbing headache in the occipital region sensitive to light. Initial neurological examination was positive only for some involuntary motor tics of the left leg. Initial laboratory workup showed hemoglobin of 20 g/dl and hematocrit of 56.5%. The carboxyhemoglobin level was normal, but the oxygen dissociation curve was shifted to the left. Further evaluation by MRI and MRA of the brain suggested extensive and complete thrombosis of the superior sagittal sinus, right transverse sinus and right sigmoid sinus with a small venous infarct in the right parafrontal region. Given that the patient first presented with a thrombotic event, workup for primary polycythemia and hypercoagulable disorders was carried out, including JAK2 mutation evaluation, which was negative. This left us with smoking as the only risk factor and possible cause for secondary polycythemia. He improved significantly with phlebotomy and anticoagulation treatment. Conclusion: This case illustrates a rare but severe complication of secondary polycythemia stressing the importance of being aware of the risk of developing cerebral thrombosis in patients with chronic smoking exposure.

Microscopic haematuria: A rare presentation of typhoid fever.

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Nisahan, Balasingam; Thirunavukarasu, Kumanan; Selvaratnam, Gowry

2015-04-01

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

Graves' disease presenting as pseudotumor cerebri: a case report

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Freitas Cláudia

2011-02-01

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

A rare case of acute lymphoblastic leukaemia with hemophilia A

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John Biju

2009-12-01

Full Text Available Abstract A rare case of Acute lymphoblastic leukemia with hemophillia in a 12 year old boy is presented in the article. Patient was known case of hemophillia (factor VIII deficiency. He was diagnosed as a case of ALL based on bone marrow examination and immunophenotypic study. Patient was treated as per Children Cancer group guidelines. The main aim of reporting this rare association lies in developing treatment strategies in preventing life threatening bleeding due to this rare association which though may be accidental but need further research.

A rare presentation of Klippel-Trenaunay syndrome

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Tanweer Karim

2014-01-01

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

Mid Arm Swelling- A Rare Presentation of Filariasis

OpenAIRE

Haren Oza; Jignasa Bhalodia; Ami Shah; Palak Modi

2014-01-01

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

Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report

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

2013-01-01

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

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

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Rajput R.

2016-05-01

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

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

African Journals Online (AJOL)

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

A rare diagnosis of abdominal pain presentation in the emergency department: Idiopathic omental bleeding: A case report.

Science.gov (United States)

Wu, Yen-Hung; Liu, Kuan-Ting; Wen, Chun-Kai

2017-12-01

Idiopathic omental bleeding is a rare cause of acute abdomen, with only a few reported cases. It usually presents with abdominal pain and may be life-threatening. As it rarely occurs, it may not be considered initially during patient presentation. A 35-year-old male came to our emergency department with abdominal pain present for around 5 to 6 hours. The patient complained of left upper quadrant abdominal pain after eating breakfast. The only associated symptom was 3 episodes of vomiting up food. Physical examination revealed mild left upper quadrant abdominal tenderness without muscle guarding or rebounding pain. Blood examination showed leukocytosis with neutrophil predominance and C reactive protein elevation. The pain was persistent and relief was not obtained by medication. Computed tomography showed a large lobular-contour homogenous slightly hyperdense lesion without enhancement along the greater curvature of the stomach in the lesser sac. A surgeon was consulted and laparotomy was suggested. Hematoma was found at Morrison pouch, subsplenic fossa, and lesser sac under operation. Laparotomy and ligation for hemostasis. The patient was discharged with stable condition after 7 days of hospitalization. This diagnosis should be considered in patients presenting with epigastric pain and vomiting after eating while in the emergency department because this disease might be life-threatening. This case highlights 2 important learning points. First, idiopathic omental bleeding could occur after eating in patients without underlying disease or trauma history, and this disease should be taken into consideration when acute abdomen occurs. Second, emergent laparotomy is indicated if the cause of acute abdomen is not clear. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

A Rare Presentation of a Rare Disease: Pulmonary Lymphomatoid Granulomatosis

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Ghulam Rehman Mohyuddin

2012-01-01

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.

A rare case of acquired lymphangioma circumscriptum of the penis.

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Adikari, S; Philippidou, M; Samuel, M

2017-02-01

Acquired lymphangioma circumscriptum is a rare occurrence on the penis. We report a case of a 47-year-old man who presented with a single lesion of acquired lymphangioma circumscriptum on the penis resembling genital warts. We report the case to increase awareness of this rare condition which may mimic sexually transmitted infections such as genital warts.

Rare case of transverse testicular ectopia - Case report and review of literature.

Science.gov (United States)

Raj, Vinod; Redkar, Rajeev; Krishna, Swathi; Tewari, Shruti

2017-01-01

This case report has been reported in line with the SCARE criteria; Consensus-based surgical case report guidelines of International Journal of Surgery 2016. Transverse Testicular Ectopia (TTE) is a rare condition which manifests with unilateral undescended testis and contralateral hernia. Till now around 100 cases have been described in the literature. The management depends on the anatomy of the vas, vessels and testis found on surgical exploration. An algorithm exists for its management and we propose a modified algorithm for management of TTE. Five year male presented with complaints of unilateral undescended testis on the right and hernia on the left. Clinically the right testis was impalpable and left testis palpable in the left hemiscrotum and fluid hernia on the same side. Transverse testicular ectopia is a rare condition presenting with UDT and contralateral inguinal hernia. Although more than 100 cases have been described in the literature so far, those managed with a transeptal contralateral orchidopexy are two cases to the best of our knowledge. TTE was first described by Von Lenhossek in 1886. The mean age of presentation is around 4 years and most of the cases are diagnosed on surgical exploration. The management of TTE remains controversial even though an algorithm has been described for its management due to its varied presenting scenarios. TTE is a rare condition which requires high index of suspicion for diagnosis preoperatively. Whenever suspected we recommend an USG and/or MRI prior to diagnostic laparoscopy and proceed with orchidopexy. Diagnostic laparoscopy is both helpful in diagnosis and management. Transeptal contralateral orchidopexy gives good tension free fixation of testes in the scrotum.

Can pneumocephalus present as flashes of light? A rare case report

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Santanu Ghosh

2017-01-01

Full Text Available Orbital emphysema and associated pneumocephalus usually result from trauma to orbital bones or due to sinus disease, allowing air to travel from paranasal sinus into orbit and brain. However, it is extremely rare to have orbital emphysema and pneumocephalus in the absence of orbital wall fracture. In our case, a young male was admitted with severe eye pain, diminution of vision due to sudden exposure of compressed air gun. Examination revealed proptosed, emphysematous right eye with conjunctival laceration. Computed tomography scan of the head and orbit revealed multiple radiolucencies with air in the right orbit and brain extending up to the spinal canal without any evidence of orbital sinus or cranial bone fracture. Visual acuity recovered completely on follow–up; however, 2 weeks following injury, the patient developed disabling flashes of light which the patient perceived as central in location and resolved finally over a period of 3 months. Flashes of light, in our case, could be attributable to unnoticed damage to cerebral vasculature or connective tissue surrounding the optic nerve due to pneumocephalus.

Cardiovocal syndrome – A rare presentation of primary pulmonary hypertension

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Om Shankar

2014-05-01

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

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

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Lavanya Karanam

2016-01-01

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

A Rare Case of Idiopathic Plastic Bronchitis

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Mohammed Raoufi

2017-01-01

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

Multiple Autoimmune Syndromes Associated with Psoriasis: A Rare Clinical Presentation

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Sadia Masood

2014-03-01

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

Beta-hemolytic streptococcus group a endocarditis: a rare clinical presentation

International Nuclear Information System (INIS)

Alam, A.; Tariq, M.

2008-01-01

A case report of an elderly gentleman is reported herein, who presented with one week history of fever, drowsiness and left lower limb weakness. Examination revealed left lower limb weakness with power of grade 3/5. His workup showed evidence of infection and multiple cerebral infarcts on the right side. Blood culture grew Streptococcus pyogens. Echocardiogram showed two vegetations on the aortic valve. Fever was the main presenting feature in this case but it was the presentation of patient with multiple cerebral infarcts that lead to the diagnosis of infective endocarditis. The organism causing Infective Endocarditis (IE) in this patient was a rare one. (author)

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

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Santosh Kumar

2014-01-01

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

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

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Samir Ranjan Nayak

2014-01-01

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

Glomus tumor of penis- A rare case

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Madhuri S. Kate

2013-01-01

Full Text Available Glomus tumors are rare, painful, and benign soft tissue tumors of the skin arising from the glomus body, an arteriovenous thermoregulatory structure. This lesion is usually found on the extremities. Glomus tumor involving the external genital organs including penis is extremely rare. Until now, only few cases have been reported in the available literature. A 22 year old male patient presented with a painful nodule over the penis. The pathologic diagnosis was glomus tumor of the glans penis. We report herewith a case of glomus tumor of penis diagnosed on histopathologic examination. Glomus tumor, being a benign neoplasm, complete extirpation of the glomus tumor is the treatment of choice.

A rare case of Charlin's syndrome

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Mohit P Singh

2017-01-01

Full Text Available Charlin's syndrome is an extremely rare condition characterized by pain in the nasal and paranasal areas, which is precipitated by touching the lateral aspect of the ipsilateral nostril. We are presenting one such case of a 42-year-old man who was admitted to Dr. Chaudhary Hospital and Medical Research Centre.

Rare acquired hemostatic disorders as a cause of prolonged bleeding – presentation of two case reports

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Polona Novak

2011-10-01

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.

Splenic Infarct: A Rare Presentation in a Pediatric Patient

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Palla Bhattarai

2014-12-01

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

A Rare Clinical Presentation of Darier's Disease

Science.gov (United States)

Ferizi, Mybera; Begolli-Gerqari, Antigona; Luzar, Bostjan; Kurshumliu, Fisnik; Ferizi, Mergita

2013-01-01

Darier's disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They are usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions are presented as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains”. This paper reports a case of a 53-year-old woman that was admitted to our clinic with more than 10-year history of keratotic papules, presented on the hands and feet, nose, ears, genitalia, and whitish lesions on palatal mucosae. PMID:23573430

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

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Sabitha Gokulraj

2016-01-01

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

A Rare Presentation of a Transethmoidal Encephalocele at Birth

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Anand Vishwanath Upasani

2014-10-01

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

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

Science.gov (United States)

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

2018-05-01

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

Unusual Presentation Of Idiopathic Retroperitoneal Fibrosis: Case ...

African Journals Online (AJOL)

Idiopathic retroperitoneal fibrosis (IRF) is an uncommon entity described as progressive proliferation of connective tissues leading to a fibrous plaque-like lesions that encases the aorta and inferior vena cava inferior to the level of the renal arteries. Mass forming retroperitoneal fibrosis is rare. We present a rare case of a ...

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

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E. C. Castro

2012-01-01

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

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

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Chih-Yao Chang

2017-01-01

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

Florid Cementoosseous Dysplasia: A Rare Case Report

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Mehmet Fatih Şentürk

2013-01-01

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

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

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Irshad Parray

2011-03-01

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

Microfibrillar cardiomyopathy: A rare case

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Narender Kumar

2011-01-01

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

A rare presentation of a transethmoidal encephalocele at birth.

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

2014-10-01

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

A rare presentation of lipoma on mandibular mucogingival junction

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Gaurav Sharma

2016-01-01

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

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

OpenAIRE

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

2017-01-01

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

A rare case of Turner′s syndrome presenting with Mullerian agenesis

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Suresh Vaddadi

2013-01-01

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.

The present status of rare gas release control

International Nuclear Information System (INIS)

Yamamoto, Hiroshi

1974-01-01

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

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

Science.gov (United States)

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

2014-01-01

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

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

Science.gov (United States)

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

2014-01-01

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

Sirenomelia sequence: early prenatal diagnosis of one rare case associated with acardiac malformation.

Science.gov (United States)

Zanforlin Filho, Sebastião M; Guimarães Filho, Hélio A; Araujo Júnior, Edward; Pires, Cláudio R; Mattar, Rosiane; Nardozza, Luciano M M

2007-04-01

Sirenomelia sequence is a very rare congenital malformation, with incidence of around 1.5-4.2 per 100,000 births. Prenatal diagnosis of sirenomelia in the first trimester is rare; there are only five cases reported for the present, and the association of sirenomelia with acardiac malformation is even rarer. We present a rare case of sirenomelia associated with acardiac malformation detected in the first trimester through combined two-dimensional, three-dimensional and color Doppler sonographies.

Laryngeal sarcoidosis: a case report presenting transglottic involvement

NARCIS (Netherlands)

Broek, E.M.J.M. van den; Heijnen, B.J.; Verbist, B.M.; Sjögren, E.V.

2013-01-01

Isolated laryngeal sarcoidosis is a very rare disease. In most cases, it will present as a supraglottic pale edematous swelling. In our case, the patient presented with hoarseness and dyspnea during exertion. Laryngeal examination did show not only supraglottic edema but also prominent subglottic

Megalourethra with Y-Type Duplication of Urethra Presented as Perianal Fistula: A Rare Case Report

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Shashi Verma

2015-01-01

Full Text Available Megalourethra with Y-type duplication is an extremely rare anomaly. We report here one such case, diagnosed with retrograde urethrogram, which was done from both penile meatus and perianal opening simultaneously. Patient was successfully treated by laser optical internal urethrotomy (OIU, excision of duplicated urethra, and reduction urethroplasty in a single stage.

Tubo-Ovarian Presentation of Burkitt's Lymphoma: Case Report ...

African Journals Online (AJOL)

Burkitt's lymphoma rarely presents as a primary of the ovary. High index of suspicion is required to avoid delay of definitive management. There are a few case reports presented on ovarian Burkitt's lymphoma. We present a case of a 23 year old, para 1+1 HIV negative patient who presented to the Kenyatta National Hospital ...

Oral lymphangioma: A rare case report

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Harsha Bhayya

2015-01-01

Full Text Available Lymphangiomas are benign hamartomatous tumors of the lymphatic channels which present as developmental malformations arising from sequestration of lymphatic tissue that do not communicate with the rest of the lymphatic channels. Lymphatic vessels are filled with a clear protein-rich fluid containing few lymph cells. It can also occur in association with hemangioma. The onset of lymphangiomas are either at birth (60% to 70% or up to two years of age (90% and rare in adults. Lymphangiomas have marked predilection for the head and neck region (50-70%. The most common location in the mouth is the dorsum of tongue, followed by lips, buccal mucosa, soft palate, and floor of the mouth. On tongue, they may present as a localized or a diffused growth which may enlarge to cause macroglossia, impaired speech and difficulty in mastication. Herewith, we present a rare case of lymphangioma of tongue leading to macroglossia in a 8-year-old boy.

Hidradenocarcinoma eccrinale syringomatodes of the eyelid--case of a rare malignancy.

Science.gov (United States)

Karolina, Ziaja; Arkadiusz, Pogrzebielski; Jolanta, Orłowska-Heitzman; Bozena, Romanowska-Dixon

2010-01-01

Presentation of a case of very rare malignant tumor of eccrine sweat glands in the eyelid. A 44 years old man with a tumor of the upper left eyelid is presented. Sweat gland carcinomas are rare malignant tumors of the skin adnexa. Diagnosis of these carcinomas is difficult due to their infrequency.

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

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Harshi Dhingra

2018-04-01

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

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

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Senthil Balasubramani

2016-01-01

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

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

LENUS (Irish Health Repository)

Daruwalla, Z J

2010-12-01

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

Retroperitoneal Schwannoma: A Rare Case

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Murat Kalaycı

2011-01-01

Case Presentation. A 38-year-old woman was admitted to the emergency service with the complaints of progressive abdominal pain and nausea for the last 24 hours. Abdominal examination was compatible with acute abdomen. Acute appendicitis was diagnosed by CT. During CT evaluation, a round shaped soft-tissue mass at the retroperitoneal area inferior to the right kidney was detected, The mass was resected and histology revealed schwannoma. Conclusion. Rare tumoral lesions with benign course such as schwannoma can be detected incidentally.

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

Science.gov (United States)

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

2016-01-01

Background . Renal-limited myeloperoxidase vasculitis with simultaneous rheumatoid arthritis is reported as a rare occurrence. Review of literature suggests that most patients had a diagnosis of rheumatoid arthritis for several years prior to presenting with renal failure from myeloperoxidase vasculitis. Case Presentation . A 58-year-old Caucasian male presented to the hospital experiencing malaise, fevers, decreased oral intake, nausea, and vomiting for one week duration. His past medical history consisted of newly diagnosed but untreated rheumatoid arthritis, hypertension, and non-insulin-dependent diabetes mellitus. He was found to have acute renal failure, proteinuria, and hypoglycemia. Standard therapy, including intravenous fluids, did not improve his acute renal failure. A vasculitis workup resulted in a positive myeloperoxidase anti-neutrophil cytoplasmic antibody (MPO-ANCA). Renal biopsy revealed crescentic glomerulonephritis (GN) pauci-immune type, suggestive of MPO-ANCA-associated vasculitis (MPO-AAV). Treatment consisted of prednisone, cyclophosphamide, and seven cycles of plasmapheresis, in addition to hemodialysis for uremia. Upon discharge, he received hemodialysis for another week and continued treatment with cyclophosphamide and prednisone. Conclusion . Patients with longstanding rheumatoid arthritis may develop renal failure due to nonsteroidal anti-inflammatory medication use and AA type amyloidosis; however, necrotizing glomerulonephritis with crescent formation has been rarely reported. This stresses the importance of early recognition and swift initiation of treatment.

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

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Nathalie Foray

2016-01-01

Full Text Available 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 history consisted of newly diagnosed but untreated rheumatoid arthritis, hypertension, and non-insulin-dependent diabetes mellitus. He was found to have acute renal failure, proteinuria, and hypoglycemia. Standard therapy, including intravenous fluids, did not improve his acute renal failure. A vasculitis workup resulted in a positive myeloperoxidase anti-neutrophil cytoplasmic antibody (MPO-ANCA. Renal biopsy revealed crescentic glomerulonephritis (GN pauci-immune type, suggestive of MPO-ANCA-associated vasculitis (MPO-AAV. Treatment consisted of prednisone, cyclophosphamide, and seven cycles of plasmapheresis, in addition to hemodialysis for uremia. Upon discharge, he received hemodialysis for another week and continued treatment with cyclophosphamide and prednisone. Conclusion. Patients with longstanding rheumatoid arthritis may develop renal failure due to nonsteroidal anti-inflammatory medication use and AA type amyloidosis; however, necrotizing glomerulonephritis with crescent formation has been rarely reported. This stresses the importance of early recognition and swift initiation of treatment.

A rare case of adult scalp pyoderma gangrenosum with cranial osteolysis

OpenAIRE

L. Aljohmani; K. Abdul-Jalil; C. deBlacam; G.M. Murphy; J.B. O'Sullivan

2018-01-01

Pyoderma gangrenosum (PG) is a rare and painful idiopathic skin condition that has one or more areas of chronic ulceration with well demarcated and undermined borders. Bone osteolysis (the pathological destruction of bone tissue) secondary to PG is a rare phenomenon with limited cases reported in children only. This is the first case report of scalp PG with cranial osteolysis in an 80-year-old adult, with an initial presentation mimicking skin carcinoma. This case highlights the importance...

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

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

2016-03-01

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

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

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Priya M Jacob

2014-01-01

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

External auditory canal leech: a rare case report of paediatric ...

African Journals Online (AJOL)

Leeches are blood sucking organism feed on human blood. While human bites are common, they rarely cause human internal infestation. We describe a rare case of a parasitic leech infestation of the External Auditory Canal (EAC). A two month old child presented to the Emergency department with a seven day history of ...

Monilethrix – Case report of a rare disease

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Tasleem Arif

2015-01-01

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

Unusual Origin and Rare Presentation of Primary Cardiac Lymphoma

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

2011-01-01

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

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

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Papastratis George

2001-01-01

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

Gingival enlargement unveiling sarcoidosis: Report of a rare case

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Sabeeha Abbas Kadiwala

2013-01-01

Full Text Available Sarcoidosis is classified as an acquired systemic granulomatous disease. Because of the fact that sarcoidosis affects multiple tissues and organs, it is characterized by many potential signs and symptoms, as well as by the presence of non-caseating granulomas in the organs involved. Although oral sarcoidosis is relatively rare, it may however, present in the oral cavity. This report presents a rare case of sarcoidosis with the initial presenting symptom as severe generalized gingival enlargement. The gingival enlargement was treated by gingivectomy. After histopathological examination of gingival biopsy and certain special investigations, a diagnosis of sarcoidosis was made.

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

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

2016-09-26

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

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

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Tasleem Arif

2015-01-01

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

A Rare Case of β-Ketothiolase Deficiency

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B. Modh

2015-06-01

Full Text Available We are reporting a case of β-ketothiolase deficiency, a rare disorder of amino acid metabolism. A 10 month old child presented with complaints of vomiting, convulsions, fever and altered sensorium that on investigations showed metabolic acidosis, hyperammonemia and ketosis. Gas chromatography/ mass spectroscopic examination was suggestive of β-ketothiolase deficiency.

Neuroendocrine tumor of the inguinal node: A very rare presentation

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Niharika Bisht

2017-12-01

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

Rare vertebral metastasis in a case of Hereditary Paraganglioma

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da Silva Manuel Eduardo

2012-09-01

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

Fryns anophthalmia-plus syndrome: two rare cases.

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

2014-01-01

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

A Rare Clinical Presentation of Darier’s Disease

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Mybera Ferizi

2013-01-01

Full Text Available Darier’s disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They are usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions are presented as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains”. This paper reports a case of a 53-year-old woman that was admitted to our clinic with more than 10-year history of keratotic papules, presented on the hands and feet, nose, ears, genitalia, and whitish lesions on palatal mucosae.

Extra-adrenal myelolipoma presenting in the spleen: A report of two cases

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N.S. Aguilera

2016-12-01

Full Text Available Myelolipoma is a rare neoplasm composed of mature fat and bone marrow occurring most frequently in the adrenal gland with rare occurrences in extra adrenal locations including lung, liver, retroperitoneum, mediastinum and testes. Splenic myelolipomas are seen most commonly in non-human species including cat and dog. Only rare cases of splenic myelolipoma in humans have been reported previously. We present two cases of myelolipoma in the spleen. The first is a 62 year old female presenting with abdominal pain and a splenic mass. The second is a 44 year old male presenting with hematuria and a mass in the spleen. Both cases showed trilineage bone marrow elements with mature fat. These cases demonstrate that myelolipoma do rarely occur in human spleen and we highlight the distinction from extramedullary hematopoiesis, mature extramedullary myeloid tumor (myeloid sarcoma, lipoma and well differentiated liposarcoma.

Pancreatitis and myocarditis followed by pulmonary hemorrhage, a rare presentation of leptospirosis- A case report and literature survey

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Ranawaka Nuwan

2013-01-01

Full Text Available Abstract Background Leptospirosis is a potentially fatal disease which can cause multi-organ dysfunction. It can rarely present as acute pancreatitis. This is the first ever report of leptospirosis presenting with acute pancreatitis and myocarditis followed by diffuse pulmonary hemorrhages to the best of our knowledge. Case presentation A 15-year-old South Asian boy presented with high grade fever, epigastric discomfort and was anicteric on admission. He developed tachycardia, transient hypotension, changes of electro-cardiogram and positive troponin I suggestive of myocarditis. Acute pancreatitis was diagnosed with 12 fold high serum amylase and with the evidence of computerized tomography. Then he developed diffuse pulmonary hemorrhages and later acute renal failure. Leptospirosis was confirmed by positive leptospira IgM, negative IgG and strongly positive Microscopic Agglutination Test. Other possible infective and autoimmune causes were excluded. Patient recovered completely with antibiotics and the supportive care. Conclusion This case illustrates diagnostic difficulties especially in resource poor settings where leptospirosis is common. Additionally it highlights the fact that leptospirosis should be considered in patients presenting with pancreatitis which can be complicated with myocarditis and diffuse pulmonary hemorrhages. We hypothesize that Toll like receptors may play a role in such systemic involvement.

A Rare Case: Struma Ovarii in a 14-Year-Old Girl.

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Iltar, Elif; Ureyen, Isin; Toptas, Tayfun; Savas, Melike; Çekiç, Sema; Uysal, Aysel

2018-02-01

Ovarian tumors presented with ovarian mass in childhood and adolescence are uncommon but an important part of gynecological cases. Struma ovarii is one of the rare cystic benign ovarian tumors that is observed predominantly in women who are between the ages of 40 and 60 years old. It is extremely rare in adolescents. Herein, we present a 14-year-old adolescent girl with struma ovarii who presented to the emergency room with abdominal pain.

Sirenomelia and ndash; Mermaid Syndrome with Oesophageal Atresia: A Rare Case Report

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Veena Raja

2015-09-01

Full Text Available Sirenomelia or Mermaid syndrome is a very rare congenital deformity in which legs are fused together and commonly associated with abnormal kidney development, genital, and rectal abnormalities. In this present case, sirenomelia was associated with oesophageal atresia, which is a rare association and occurs in about 20-35% of cases. [J Interdiscipl Histopathol 2015; 3(3.000: 113-116

Aggressive angiomyxoma presenting with huge abdominal lump: A case report

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Kumar, Sanjeev; Agrawal, Nikhil; Khanna, Rahul; Khanna, AK

2008-01-01

Agressive angiomyxoma is a rare mesenchymal neoplasm. It mainly presents in females. We here present a case of angiomyxoma presenting as huge abdominal lump along with gluteal swelling. Case note is described along with brief review of literature. PMID:18755035

A RARE CASE OF THIAZIDE-INDUCED BENIGN GYNAECOMASTIA

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Sandeep Yamsani

2017-02-01

Full Text Available BACKGROUND Gynaecomastia is a common disorder of the endocrine system in which there is a noncancerous enlargement of the male breast. The incidence of drug-induced gynaecomastia is about 4-10%. One among them are the thiazide group of diuretics, which result in gynaecomastia by inhibition of androgen synthesis. The present case study is about a 75-year-old patient who is a known case of diabetes and hypertension with primary complaints of bilateral breast enlargement diagnosed with a rare presentation of hydrochlorothiazide adverse drug reaction gynaecomastia.¹

Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report

OpenAIRE

Razi, Syed Mohd; Gupta, Abhinav Kumar; Gupta, Deepak Chand; Gutch, Manish; Gupta, Keshav Kumar; Usman, Syeda Iqra

2016-01-01

Background Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae. Case presentation We present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bi...

A rare case of juvenile dermatomyositis and review of literature

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Anjali T Bharani

2017-01-01

Full Text Available Idiopathic inflammatory myopathies are rare group of systemic connective tissue diseases. The hallmark of these disorders is symmetrical chronic inflammation and weakness of proximal muscles. Juvenile dermatomyositis (JDM is the most common inflammatory myositis in children. We describe a rare case of JDM in a 4-year-old female child who presented with characteristic cutaneous rash and proximal muscle weakness.

Focal dermal hypoplasia: A rare case report

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Sahana M Srinivas

2015-01-01

Full Text Available Focal dermal hypoplasia (Goltz syndrome is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome.

Testicular calculus: A rare case.

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Sen, Volkan; Bozkurt, Ozan; Demır, Omer; Tuna, Burcin; Yorukoglu, Kutsal; Esen, Adil

2015-01-01

Testicular calculus is an extremely rare case with unknown etiology and pathogenesis. To our knowledge, here we report the third case of testicular calculus. A 31-year-old man was admitted to our clinic with painful solid mass in left testis. After diagnostic work-up for a possible testicular tumour, he underwent inguinal orchiectomy and histopathologic examination showed a testicular calculus. Case hypothesis: Solid testicular lesions in young adults generally correspond to testicular cancer. Differential diagnosis should be done carefully. Future implications: In young adults with painful and solid testicular mass with hyperechogenic appearance on scrotal ultrasonography, testicular calculus must be kept in mind in differential diagnosis. Further reports on this topic may let us do more clear recommendations about the etiology and treatment of this rare disease.

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

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

2016-01-01

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

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

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

2016-10-01

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

Trichinosis - case presentation

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Rajko Saletinger

2007-03-01

Full Text Available Background: Trichinosis is a widespread zoonosis acquired by ingestion of undercooked meat infected with the larvae of Trichinella parasites. The disease has variable clinical manifestations ranging from asymptomatic to fatal. Majority of infections is caused by Trichinella spiralis, although there are some cases caused by other species. The dramatic decline of trichinosis reflects changes in industrial practices and increased public awareness. The majority of human cases are now associated with wild game meat and noncommercial pork. The case of previously healthy, young man with trichinosis is presented. The disease was determined with serologic testing and cured with albendazole. The source of infection has not been determined.Conclusions: In patients with fever, mialgias and eosinophilia infection with tissue nematodes should always be taken in consideration. In those who have recently consumed raw or undercooked pork and wild game meat we should think about trichinosis. The disease is rare in Slovenia.

Malignant mandibular tumors: two case reports of rare mandibular ...

African Journals Online (AJOL)

Arun Kumar Agnihotri

2014-02-26

Feb 26, 2014 ... present two cases of rare malignant mandibular tumors in a single institution. KEY WORDS: .... Spiculated osteoblastic periosteal reaction was noted with mild ... displacement of right 2nd premolar and 2nd molar teeth were ...

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

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Vivek Dokania

2017-01-01

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

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

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Carina Santos

2018-01-01

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

Uncommon presentation of a rare tumour - incidental finding in an asymptomatic patient: case report and comprehensive review of the literature on intrapericardial solitary fibrous tumours

OpenAIRE

Czimbalmos, Csilla; Csecs, Ibolya; Polos, Miklos; Bartha, Elektra; Szucs, Nikolette; Toth, Attila; Maurovich-Horvat, Pal; Becker, David; Sapi, Zoltan; Szabolcs, Zoltan; Merkely, Bela; Vago, Hajnalka

2017-01-01

Background A solitary fibrous tumour is a rare, mainly benign spindle cell mesenchymal tumour most commonly originating from the pleura. An intrapericardial location of a solitary fibrous tumour is extremely unusual. We present a case of an asymptomatic patient with a slow-growing massive benign cardiac solitary fibrous tumour. Case presentation A 37-year-old asymptomatic female patient was referred to our hospital with an enlarged cardiac silhouette found on her screening chest X-ray. The ec...

A rare presentation of methanol toxicity

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Nikhil Gupta

2013-01-01

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

Primary Systemic Amyloidosis Presenting as Swollen Dense Breast: A Case Report

International Nuclear Information System (INIS)

Lee, Byung Hoon; Kim, Mi Young; Kim, Su Young; Hwang, Yoon Joon; Han, Yoon Hee; Seo, Jung Wook; Kim, Yong Hoon; Cha, Soon Joo; Hur, Gham; Joo, Mee

2006-01-01

Breast involvement of primary systemic amyloidosis is rare. This is a rare case of breast amyloidosis presenting as a diffuse infiltrative lesion. We present the mammographic, ultrasound, and MR findings of a systemic primary amyloidosis involving the breast with diffuse infiltrative pattern

A rare case of thyroid metastasis from pancreatic adenocarcinoma.

LENUS (Irish Health Repository)

Kelly, Michael E

2012-02-01

CONTEXT: Thyroid metastasis from pancreatic adenocarcinoma is extremely rare, with only two previous cases in the literature. We report a case of pancreatic adenocarcinoma metastasising to the thyroid. We review the incidence, diagnosis, and management of this rare occurrence. CASE REPORT: A 38-year-old man with a synchronous 6-month history of thyroid swelling, presented with epigastric pain and signs of obstructive jaundice. He was investigated by abdominal computerised tomography and endoscopic retrograde cholangiopancreatography. The diagnosis of pancreatic neoplasm was made. His thyroid neoplasm was investigated at another tertiary centre and thought to be a papillary neoplasm. He underwent a pancreaticoduodenectomy and recovered well post-operatively. Eight weeks later he had a total thyroidectomy. Histology confirmed that the thyroid mass was both morphologically and immunophenotypically similar to the pancreatic neoplasm. CONCLUSION: This case demonstrates the importance of a full investigation when a patient with suspected neoplastic history presents with a thyroid nodule. We outline the crucial role that immunohistochemistry plays in detecting and classifying primary and secondary thyroid neoplasms. The detection of a solitary thyroid metastasis from pancreatic adenocarcinoma may indicate a poor prognosis, and it is debatable whether resection of the primary should be undertaken when it presents with a solitary metastasis.

A very rare case of bloody tears with enigmatic epistaxis and haematuria.

Science.gov (United States)

Ho, Jason Z S; de Silva, Julian; Olver, Jane

2011-03-01

Bloody tears are a rare symptom that can be caused by local or systemic pathology. We describe a very rare case of bloody tears that resulted from hyperthyroidism. A 15-year-old female patient presented with a 6-month history of bloody tears and epistaxis. Examination excluded local ocular and nasal pathology, including neoplasm and coagulopathy. Systemic investigations identified elevated thyroid function and following treatment her symptoms resolved. We discuss the mechanism by which hyperthyroidism may induce haemostatic dysfunction. We present the first case of bloody tears secondary to thyroid dysfunction.

Brucellosis presenting as piriformis myositis: a case report

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Romanos Odysseas

2011-03-01

Full Text Available Abstract Introduction Myositis is a rare bacterial muscle infection. Involvement of the piriformis muscle has been rarely reported in the literature. In this report we describe a case of piriformis myositis due to Brucella melitensis, which to the best of our knowledge is the first such case presented in the literature. Case presentation We report the case of a 19-year-old Caucasian man who presented to our institution with fever and right hip pain. Brucellosis was suspected, but the clinical suspicion was for spondylodiscitis. A pelvic magnetic resonance imaging scan allowed prompt diagnosis of inflammatory involvement of the right piriformis muscle. Blood culture results were positive for B. melitensis. Our patient was treated with antibiotics, and follow-up magnetic resonance imaging scans showed resolution of the inflammation. Conclusion Brucellosis can present as piriformis myositis. The clinical diagnosis of piriformis myositis is difficult, as it can mimic other common entities such as referred back pain from spondylodiscitis. Magnetic resonance imaging is the method of choice for establishing the diagnosis in the early stages of the disease, as late diagnosis can lead to abscess formation and the need for drainage.

A rare case of Weil's disease with alveolar haemorrhage

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Abhiram Chakrabarti

2014-05-01

Full Text Available Leptospirosis, a disease of protean manifestations occurs sporadically throughout the year with a peak seasonal incidence during the rainy season mimicking other febrile viral illness. In the rare case, the disease leads to renal and hepatic involvement with hemorrhage which may be associated with multisystem organ dysfunction in form of pulmonary, cardiac and central nervous system, when it is known as Weil's disease. Rarely haemorrhagic manifestations are assosciated. Early diagnosis is important as sometimes the disease may be life threatening. Proper antibiotics results in dramatic improvement. We hereby presented a case that had clinical features of Weil's disease with cough, dyspnoea and haemoptysis. Leptospirosis was detected on ELISA testing. Patient was cured rapidly with antibiotics.

A rare case of Weil's disease with alveolar haemorrhage.

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Chakrabarti, Abhiram; Nandy, Manab; Pal, Dipankar; Mallik, Sudesna

2014-05-01

Leptospirosis, a disease of protean manifestations occurs sporadically throughout the year with a peak seasonal incidence during the rainy season mimicking other febrile viral illness. In the rare case, the disease leads to renal and hepatic involvement with hemorrhage which may be associated with multisystem organ dysfunction in form of pulmonary, cardiac and central nervous system, when it is known as Weil's disease. Rarely haemorrhagic manifestations are assosciated. Early diagnosis is important as sometimes the disease may be life threatening. Proper antibiotics results in dramatic improvement. We hereby presented a case that had clinical features of Weil's disease with cough, dyspnoea and haemoptysis. Leptospirosis was detected on ELISA testing. Patient was cured rapidly with antibiotics.

Management of A Rare Case of Communicating Internal-External Inflammatory Resorption.

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Arora, Suraj; Gill, Gurdeep Singh; Saluja, Priyanka; Setia, Vikas

2015-05-01

The present case describes the successful management of a rare case of communicating internal-external resorption in which both internal and external resorption seem to develop independent of each other. The case report highlights the importance of correct diagnosis and need of revision of classification system of resorptive defects.

Rare Case of Duodenal Metastasis From Pulmonary Squamous Cell Carcinoma

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Zain Memon DO

2017-10-01

Full Text Available Pulmonary squamous cell carcinoma is the second most common non–small cell malignancy of the lung. It commonly metastasizes to the adrenal glands, bone, liver, brain, and kidneys. Most occurrences of metastatic squamous cell carcinoma involving the gastrointestinal tract originate from primary lung tumors. Metastasis to the duodenum, however, is exceedingly rare, with very few cases of stomach or duodenal involvement described in the literature. We report the case of a patient with stage IV pulmonary squamous cell carcinoma metastasizing to the duodenum with an uncommon presentation to add to the paucity of literature available regarding this rare finding.

A rare case of spinal dural arteriovenous fistula

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Mariya Apostolova

2012-12-01

Full Text Available Spinal dural arteriovenous fistula (SDAVF is a rare vascular malformation of the spine. Only a limited number of cases of SDAVF have been reported in the current literature. We describe the case of a 74 year old male who presented with gradually progressive bilateral lower extremity weakness and bladder dysfunction and was subsequently diagnosed with SDAVF affecting both the thoracic and lumbar spine. The patient later underwent embolization with some improvement in his neurologic symptoms.

THIRD BRANCHIAL CLEFT CYST PRESENTATION IN ADULTHOOD: A CASE REPORT

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Srinjeeta Garg; Yuvraj Patil; Karan Vayangankar; Adip Shetty; Haritosh Kamalakar Velankar

2014-01-01

Third branchial cleft cysts (BCCs) are rare entities that represent abnormal persistence of the branchial apparatus. Most cases of third branchial cleft cysts (BCCs) are diagnosed in childhood and show a marked preference for the left side. However, here we present this rare anomaly in a 40 year old female which presented as a fast growing swelling in adulthood.

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

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Ahmed Al-Imam

2016-01-01

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

[Metachromatic Leukodystrophy. Case Presentation].

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Espejo, Lina María; de la Espriella, Ricardo; Hernández, José Fernando

Metachromatic leukodystrophy (MLD) is a rare demyelinating disease (prevalence 1:40 000), also called arylsulfatase A deficiency (ARS-A), which may present with neurological and psychiatric symptoms. Clinical assessment may be difficult, due to unspecific signs and symptoms. A case is presented of a 16 year-old female patient seen in psychiatry due to behavioural changes, psychosis, and with impaired overall performance. She was initially diagnosed with schizophrenia, but the Nuclear Magnetic Resonance (NMR) scan and laboratory tests lead to the diagnosis of MLD. Copyright © 2016 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

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

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

2016-05-05

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

A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation.

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Talreja, Shyam M; Banerjee, Indraneel; Yadav, Sher Singh; Tomar, Vinay

2015-01-01

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual. It's incidence ranges from 3% to 10% of all disorder of DSD's, and the most common presentation is 46, XX followed by 46, XX/46, XY mosaicism and 46, XY. Klinefelter syndrome (KS) mosaicism 46, XX/47, XXY is extremely rare, and its association with the ovotesticular disorder is even rarer. We report an unusual case of 16-year-old with male habitus who presented with complains of cyclic hematuria. On examination, he had bilateral gynecomastia, unilateral left cryptorchidism, absent facial hair, sparse axillary hair growth, and pubic hair distribution of feminine type. The right testis was of normal size located normally in hemiscrotum and was confirmed by radio imaging. Ultrasonography and magnetic resonance imaging revealed a cystic area behind posterior half of urinary bladder. Chromosomal analysis revealed 46, XX/47, XXY mosaicism of female karyotype and KS. Histopathological report of this left side excised specimen confirmed the structures to be ovary, uterus, and fallopian tube, thus confirming our diagnosis of the lateral ovotesticular disorder. Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency.

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

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Supriya Sarkar

2014-01-01

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

Rare presentation of acute urinary retention secondary to herpes zoster.

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

1998-09-01

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

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

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

2014-09-01

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

Epistaxis as a Common Presenting Symptom of Glanzmann’s Thrombasthenia, a Rare Qualitative Platelet Disorder: Illustrative Case Examples

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Michael Recht

2017-01-01

Full Text Available Children often present to emergency departments (EDs with uncontrollable nose bleeding. Although usually due to benign etiologies, epistaxis may be the presenting symptom of an inherited bleeding disorder. Whereas most bleeding disorders are detected through standard hematologic assessments, diagnosing rare platelet function disorders may be challenging. Here we present two case reports and review diagnostic and management challenges of platelet function disorders with a focus on Glanzmann’s thrombasthenia (GT. Patient 1 was a 4-year-old boy with uncontrolled epistaxis. His medical history included frequent and easy bruising. Previous laboratory evaluation revealed only mild microcytic anemia. An otolaryngologist stopped the bleeding, and referral to a pediatric hematologist led to the definitive diagnosis of GT. Patient 2 was a 2.5-year-old girl with severe epistaxis and a history of milder recurrent epistaxis. She had a bruise on her abdomen with a palpable hematoma and many scattered petechiae. Previous assessments revealed no demonstrable hemostatic anomalies. Platelet aggregation studies were performed following referral to a pediatric hematologist, leading to the diagnosis of GT. As evidenced by these cases, the ED physician may often be the first to evaluate severe or recurrent epistaxis and should recognize indications for coagulation testing and hematology consultation/referral for advanced hematologic assessments.

Recurrent rhabdomyolysis in a child. Case presentation.

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Ertuğrul, Sabahattin; Yolbaş, İlyas; Aktar, Fesih; Yılmaz, Kamil; Tekin, Recep

2016-06-01

Viral myositis associated with infections rarely may cause rhabdomyolysis. There is no any pediatric case with severe recurrent rhabdomyolysis triggered by infections in the literature. We reported a two-year-old boy who was hospitalized three times due to severe rhabdomyolysis associated with viral myositis in the winter months. This is the first child case presentation with severe rhabdomyolysis triggered by infections. Prednisolone and intravenous immunoglobulin treatments were ineffective in this case. Sociedad Argentina de Pediatría.

Seckel syndrome: A rare case report

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Rinky Sisodia

2014-01-01

Full Text Available Seckel syndrome (SS is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, gastrointestinal, and central nervous systems. Usually such patients have poor psychomotor development. This case report presents an 8-year-old child with SS born to parents, exposed in Bhopal gas disaster.

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

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Rajeev Philip

2013-01-01

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

Rare presentation of subcapsular hepatic steatosis in a woman with uncontrolled diabetes without peritoneal dialysis: a case report

OpenAIRE

Chowdhary, Varun; Pernicka, Jennifer S. Golia; Sharma, Richa

2016-01-01

Background Subcapsular hepatic steatosis is a rare atypical pattern of fatty deposition of the liver reported in patients with diabetic nephropathy receiving peritoneal dialysis with intraperitoneal insulin. To date, there has been only one pediatric and zero adult cases of subcapsular hepatic steatosis with no history of continuous ambulatory peritoneal dialysis. We report the first published case of subcapsular hepatic steatosis in an adult diabetic patient without any history of peritoneal...

A rare clinical presentation of sarcoidosis; gingivitis.

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Güzel, Aygül; Köksal, Nurhan; Aydın, Davut; Aslan, Kerim; Gören, Fikret; Karagöz, Filiz

2013-10-01

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. Copyright © 2013 Elsevier Inc. All rights reserved.

A rare case of short stature: Say Meyer syndrome

OpenAIRE

Karthik, T. S.; Prasad, N. Rajendra; Rani, P. Radha; Maheshwari, Rushikesh; Reddy, P. Amaresh; Chakradhar, B. V. S.; Menon, Bindu

2013-01-01

Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was...

Multifocal bilateral metatarsal tuberculosis: a rare presentation.

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Vijay, Vipul; Sud, Alok; Mehtani, Anil

2015-01-01

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

[A rare case of diencephalic cachexia in an adult female with cranio-pharyngioma].

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Klochkova, I S; Astaf'eva, L I; Konovalov, A N; Kadashev, B A; Kalinin, P L; Sharipov, O I; Kutin, M A; Sidneva, Yu G; Shishkina, L V; Pronin, I N

Diencephalic cachexia (DС) is progressive weight loss despite a normal caloric intake and a satisfactory state of health, which is caused by hypothalamic lesions. This is a rare (about 100 cases were reported) and potentially fatal disorder of unknown pathogenesis. At present, there is no effective pharmacological therapy for the disorder. Cachexia may regress only if the tumor reduces in size, therefore the timely diagnosis and treatment are of vital importance for the patient. DС is typical of early childhood, and only a few cases have been reported in adults. We present a rare case of DС in a 24-year-old female with papillary craniopharyngioma.

A rare case of recurrent pyogenic liver abscess since childhood: A case of Papillon-Lefèvre syndrome

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Somak K Das

2013-01-01

Full Text Available Recurrent pyogenic liver abscess since childhood is an uncommon finding in clinical medicine. Papillon-Lefèvre syndrome (PLS is a rare disease characterized by skin lesions caused by palmar-plantar hyperkeratosis, and severe periodontal destruction involving both the primary and permanent dentitions. Till date, more than 200 cases have been reported worldwide. In addition to the skin and oral findings, patients may have immune suppression and an increased susceptibility to bacteria, associated with recurrent pyogenic infections of the skin. Pyogenic liver abscess is an uncommon presentation of this rare syndrome. We present a case of PLS presenting as recurrent pyogenic liver abscess since childhood.

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

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Hegde Vidya

2010-01-01

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

Neurenteric cyst - a case report of this rare disorder

NARCIS (Netherlands)

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

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

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

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Mostafa Hosseini

2016-06-01

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

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

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Marcus Chow

2016-01-01

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

Vesical Leiomyoma: Presentation of a clinical case

International Nuclear Information System (INIS)

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

2009-01-01

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

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

OpenAIRE

Ventham, N T; Hussien, M I

2010-01-01

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

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

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Ng Chong Beng

2017-07-01

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

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

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

2017-12-01

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

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

LENUS (Irish Health Repository)

Geoghegan, S

2010-04-01

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

A Rare Case Report of Immobility-Induced Hypercalcemia in an Infant.

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Vyas, Neha; Kaminski, Beth; MacLeish, Sarah

2016-04-01

Immobility-induced hypercalcemia is a rare cause of hypercalcemia in children, and to our knowledge it has never been reported in an infant. Infants and children are in a state of high bone turnover. Therefore, they are prone to the imbalance of osteoblastic and osteoclastic activity that occurs with prolonged immobilization, leading to hypercalcemia. Here we present the case of an infant with hypercalcemia who presented with fatigue, irritability, and failure to thrive after prolonged immobilization. Therapeutic interventions were conservative and included hydration and increased mobility leading to complete resolution. This case highlights the importance of including this rare entity in a differential diagnosis of hypercalcemia as well as screening postsurgical patients with prolonged immobility for hypercalcemia. Copyright © 2016 by the American Academy of Pediatrics.

Rare variant association analysis in case-parents studies by allowing for missing parental genotypes.

Science.gov (United States)

Li, Yumei; Xiang, Yang; Xu, Chao; Shen, Hui; Deng, Hongwen

2018-01-15

The development of next-generation sequencing technologies has facilitated the identification of rare variants. Family-based design is commonly used to effectively control for population admixture and substructure, which is more prominent for rare variants. Case-parents studies, as typical strategies in family-based design, are widely used in rare variant-disease association analysis. Current methods in case-parents studies are based on complete case-parents data; however, parental genotypes may be missing in case-parents trios, and removing these data may lead to a loss in statistical power. The present study focuses on testing for rare variant-disease association in case-parents study by allowing for missing parental genotypes. In this report, we extended the collapsing method for rare variant association analysis in case-parents studies to allow for missing parental genotypes, and investigated the performance of two methods by using the difference of genotypes between affected offspring and their corresponding "complements" in case-parent trios and TDT framework. Using simulations, we showed that, compared with the methods just only using complete case-parents data, the proposed strategy allowing for missing parental genotypes, or even adding unrelated affected individuals, can greatly improve the statistical power and meanwhile is not affected by population stratification. We conclude that adding case-parents data with missing parental genotypes to complete case-parents data set can greatly improve the power of our strategy for rare variant-disease association.

A Rare Case of Petrified Ear

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Kathryn E. Buikema

2012-01-01

Full Text Available Calcification or ossification of the auricle, also referred to as petrified ear, is a rare diagnosis in dermatology. In medical literature, it has most often been attributed to trauma, hypothermia and frostbite, or hypercalcemia secondary to a metabolic or endocrine disorder, such as Addison's disease. Here, we report the clinical and radiologic findings of a 79-year-old African American male whose unilateral petrified auricle was an incidental finding. He had a preceding history of hyperparathyroidism and subsequent hypercalcemia treated with a subtotal parathyroidectomy three years prior to presentation. In addition to laboratory analysis, a history and physical examination was performed which revealed no other signs of hypercalcemia. Radiologic studies demonstrated partial ossification of the external auricular cartilage on the left side. The patient was diagnosed with the rare occurrence of a petrified ear. In light of this case, we provide a discussion concerning the possible etiologies of this diagnosis including appropriate patient evaluation and possible treatment recommendations.

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

African Journals Online (AJOL)

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

A Rare Case Report of Bilateral Complex Macrocystic Adrenal Hemorrhage Mimicking Fetal Neuroblastoma

OpenAIRE

Sindhwani, Geetika; Patel, Viral; Jain, Abhinav

2018-01-01

Fetal and neonatal adrenal glands are large vascular organs, which make them vulnerable to frequent bleeding. Although neonatal adrenal hemorrhage is commonly reported, it is rarely diagnosed on antenatal sonography. We present a rare case of prenatally diagnosed bilateral adrenal hemorrhage, which mimicked antenatal neuroblastoma.

Extraosseous Ewing′s tumor of larynx: A rare presentation

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Vinod Shinde

2015-01-01

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

Rare Case of Vasculitis of the Hepatic Artery.

Science.gov (United States)

Mali, Padmavathi; Muduganti, Sudheer R; Goldberg, Jerry

2015-12-01

Vasculitis is an accumulation of inflammatory leucocytes in the blood vessels with reactive damage to mural structures. Isolated vasculitis of the gastrointestinal tract without systemic involvement is rare. We report a unique case of a female patient who presented with abdominal pain, and was found, on serology, to have elevated inflammatory markers without autoantibodies. A computed tomography scan of the abdomen and pelvis was suggestive of vasculitis of the hepatic artery. To the best of our knowledge, this is the first case, to date, of vasculitis of hepatic artery. © 2015 Marshfield Clinic.

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

Energy Technology Data Exchange (ETDEWEB)

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

2011-07-15

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

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

International Nuclear Information System (INIS)

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

2011-01-01

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

A Rare Case of Aneurysmal Bone Cyst in the Paranasal Sinus

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Seyyed Mostafa Hashemi

2015-09-01

Full Text Available Introduction: Aneurysmal Bone cysts (ABC are extremely rare in the head and neck region and even rarer in sinuses.  ABC is a benign multicystic mass that is locally-destructive and rapidly expandable. Hemorrhagic fluid content (like in this case and septated appearance are the characteristic feature of ABC. Established treatment options for ABCs include sclerotherapy, embolization, radiotherapy, simple curettage, surgical excision, or a combination of methods.   Case Report: In this article, a 5 year-old boy with a recurrent nasal mass is presented. The patient was finally diagnosed with this rare entity: ABC of the paranasal sinuses. The patient was treated through complete surgical removal.   Conclusion:  ABC can be considered as a rare differential diagnosis of recurrent nasal hemorrhagic mass in a pediatric population.

Rare manifestations of sirenomelia syndrome: a report of five cases.

Science.gov (United States)

Drossou-Agakidou, Vasiliki; Xatzisevastou-Loukidou, Chariklia; Soubasi, Vasiliki; Kostopoulou, Eyanthia; Laporda, Alexandra; Pantzaki, Afroditi; Agelidou, Stamatia; Kremenopoulos, Georgios

2004-10-01

Five cases of sirenomelia presented with rare manifestations are discussed. Three neonates were born alive and died within 2 to 12 hours after birth. One case was the offspring of a triple in vitro fertilization pregnancy with history of early intrauterine death of one of the triplets. The main features included fusion of lower extremities (five of five), renal agenesis (three of five), polycystic renal dysplasia (two of five), anal atresia with large bowel hypoplasia (three of five), pulmonary hypoplasia (four of five), and single umbilical artery (five of five). Other features that have only rarely been associated with sirenomelia included concurrence of congenital heart disease and neuroblastoma, gallbladder agenesis, and upper extremity defects.

A rare mitochondrial disorder: Leigh sydrome - a case report

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Shrikhande Dhananjay Y

2010-09-01

Full Text Available Abstract Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly variable. However, in most cases it presents as a progressive neurological disease with motor and intellectual developmental delay and signs and symptoms of brain stem and/or basal ganglia involvement. Raised lactate levels in blood and/or cerebrospinal fluid is noted. It is the neuroimaging, mainly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Here, we report a case of 7 months old female child presenting to us with status epilepticus, delayed developmental milestones and regression of the achieved milestones suspected to be a case of neurodegenerative disorder, which on MRI was diagnosed as Leigh syndrome.

Sirenomelia: a rare case of foetal congenital anomaly.

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Dharmraj, Meena; Gaur, Sumitra

2012-10-01

Sirenomelia, alternatively known as 'mermaid syndrome' is a very rare congenital deformity in which the legs are fused together, giving them the appearance of the tail of a mermaid'. Other birth defects are always associated with sirenomelia, most commonly abnormalities of the kidneys, large intestines, and genitalia. The present case is a one of sirenomelia associated with an absent right kidney, mild left hydronephrosis, single umbilical artery, and severe oligohydramnios. We discuss the findings, relative to the present literature and related etiopathogenesis.

A Rare Case of Second Trimester Uterine Rupture in Unscarred Uterus

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Poonam Kashyap

2017-11-01

Full Text Available Second trimester uterine rupture is rare and presents with life threatening emergency. Few cases have been reported in literature. Most of the cases which have been reported are with the use of labor-induction agents in late termination of pregnancy. Others are involving any surgical procedures in placenta percreta or scarred uterus. The main contributory factors were scarred uterus and abnormal placentation. In this study, uterine rupture had occurred in unscarred uterus in non-laboring women in second trimester without any intervention which is very rare to found. The lack of index of high suspicion diverts attention to search for other non-gynecological causes. Our aim is to create awareness through this case study to avoid delay in diagnosis and timely management of such cases.

Bladder leiomyoma presenting as dyspareunia: Case report and literature review.

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Xin, Jun; Lai, Hai-Ping; Lin, Shao-Kun; Zhang, Qing-Quan; Shao, Chu-Xiao; Jin, Lie; Lei, Wen-Hui

2016-07-01

Leiomyoma of the bladder is a rare tumor arising from the submucosa. Most patients with bladder leiomyoma may present with urinary frequency or obstructive urinary symptoms. However, there are a few cases of bladder leiomyoma coexisting with uterine leiomyoma presenting as dyspareunia. We herein report an unusual case of coexisting bladder leiomyoma and uterine leiomyoma presenting as dyspareunia. A 44-year-old Asian female presented to urologist and complained that she had experienced dyspareunia over the preceding several months. A pelvic ultrasonography revealed a mass lesion located in the trigone of urinary bladder. The mass lesion was confirmed on contrast-enhanced computed tomography (CT). The CT scan also revealed a lobulated and enlarged uterus consistent with uterine leiomyoma. Then, the biopsies were then taken with a transurethral resection (TUR) loop and these biopsies showed a benign proliferation of smooth muscle in a connective tissue stroma suggestive of bladder leiomyoma. An open local excision of bladder leiomyoma and hysteromyomectomy were performed successfully. Histological examination confirmed bladder leiomyoma coexisting with uterine leiomyoma. This case highlights a rare presentation of bladder leiomyoma, dyspareunia, as the chief symptom in a patient who had coexisting uterine leiomyoma. Bladder leiomyomas coexisting with uterine leiomyomas are rare and can present with a wide spectrum of complaints including without symptoms, irritative symptoms, obstructive symptoms, or even dyspareunia.

Laryngeal sarcoidosis: a case report presenting transglottic involvement.

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van den Broek, Emke M J M; Heijnen, Bas J; Verbist, Berit M; Sjögren, Elisabeth V

2013-09-01

Isolated laryngeal sarcoidosis is a very rare disease. In most cases, it will present as a supraglottic pale edematous swelling. In our case, the patient presented with hoarseness and dyspnea during exertion. Laryngeal examination did show not only supraglottic edema but also prominent subglottic swelling and edematous true vocal folds. Histology showed noncaseating granulomas. After excluding other causes and localizations, the patient was diagnosed with laryngeal sarcoidosis and treated with systemic corticosteroid with good result. We describe our case of isolated transglottic sarcoidosis and discuss the disease, its presentation, diagnosis, and therapeutic options. Copyright © 2013 The Voice Foundation. Published by Mosby, Inc. All rights reserved.

Rare Infratentorial and Supratentorial Localization of Juvenile Angiofibroma: A Case Report.

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Pašalić, Ivan; Trninić, Ines; Nemir, Jakob; Jednačak, Hrvoje; Žarković, Kamelija; Mrak, Goran

2016-01-01

Angiofibromas are rare tumors of the head and neck that mostly occur in the sphenopalatine region. We present a case of angiofibroma in a young male patient with an unusual and extremely rare localization, which to our knowledge has not been described before. It was situated in the tentorium and spread to the supratentorial and infratentorial regions. The patient initially presented with symptoms of increased intracranial pressure. After a diagnostic evaluation was done, the whole tumor was successfully removed using the supratentorial and infratentorial approach and the microsurgical technique. © 2016 S. Karger AG, Basel.

Unusual Presentation of Hydatid Cyst: Case Reports for Neurosurgery (Three Cases

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Rasras

2015-09-01

Full Text Available Introduction Hydatid disease is caused most common by Echinococcus granulosus and Echinococcus multilocularis. The former is the most common and is endemic in areas such as Australia, New Zealand, the Mediterranean, the Middle East, and South America. Typical presentations of hydatid disease have been frequently described in the literature; however, uncommon presentations have not been thoroughly documented. Case Presentation Here, we report three rare but well-documented cases of central nervous system hydatid cysts that occurred in patients in Iran. Conclusions We also provide a brief review of the literature examining similar occurrences. This article intends to provide thorough information about the disease for readers.

Recurrent ovary cancer presenting with scleroderma - A rare case report

OpenAIRE

Sargin, Betul; Gurer, Gulcan; Bozbas, Gulnur; Noyan, Fatih; Barut, Kayra; Tataroglu, Canten

2017-01-01

Scleroderma is a chronic autoimmune multisystem disorder which is characterizedby progressive fibrosis of the skin and internal organs. Ovary cancers with sclerodermahave been reported in the literature. But recurrent ovary cancer with sclerodermahas not been reported before. Here, we report a 65 -year old female patient presentingwith recurrent ovary cancer and subsequently diagnosed with scleroderma. Due toliterature sources, this is the first case of presenting with recurrent ovary cancera...

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

Science.gov (United States)

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

2018-02-01

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

Two rare cases of laryngeal intralymphatic histiocytosis

DEFF Research Database (Denmark)

Reznitsky, Martin; Daugaard, Søren; Charabi, Birgitte Wittenborg

2016-01-01

We report two rare cases of intralymphatic histiocytosis causing, respectively, recurrent and persistent episodes of upper airway swelling and breathing difficulties. Case 1 was a 39-year-old man who was referred with recurrent upper airway swelling causing difficulty in breathing. A direct....... Extensive investigations were performed but discovered no abnormal findings. He received CO2 laser treatment twice and the swelling decreased. Intralymphatic histiocytosis is extremely rare in upper airway pathology. It is an important differential diagnosis in patients with recurrent and chronic laryngeal...

A rare case of a sharp foreign body on the vocal cord

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Khairunnisak Misron

2017-08-01

Full Text Available A foreign body (FB in the upper aerodigestive tract is a common clinical problem that presents as as acute emergency. Sharp FB, such as fish bone or chicken bone, commonly lodges in the tonsil, base of tongue, vallecula or pyriform fossa. Dislodgement of a FB into the laryngopharynx is very rare and specifically onto the vocal cord is extremely uncommon. This case report illustrates a rare case of a sharp FB that was dislodged into the airway and stuck on to the right vocal cord, which was removed under local anaesthesia.

Krukenberg tumor in a young woman: A rare presentation

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Deepa Hatwal

2014-01-01

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

A rare case of a retroperitoneal enterogenous cyst with in-situ adenocarcinoma

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Woodland James G

2007-10-01

Full Text Available Abstract Background Retroperitoneal enterogenous cysts are uncommon and adenocarcinoma within such cysts is a rare complication. Case presentation We present the third described case of a retroperitoneal enterogenous cyst with adenocarcinomatous changes and only the second reported case whereby the cyst was not arising from any anatomical structure. Conclusion This case demonstrates the difficulties in making a diagnosis as well as the importance of a multi-disciplinary approach, and raises further questions regarding post-operative treatment with chemotherapy.

Familial gingival fibromatosis: A rare case report

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Shweta Sharma

2012-01-01

Full Text Available Hereditary gingival fibromatosis is a rare condition that can occur as an isolated disease or as part of a syndrome or chromosomal abnormality. In severe cases, the gingival enlargement may cover the crowns of teeth and cause severe functional and aesthetic concerns. Here, we present a case of an 8-year-old girl with severe enlargement of gums in maxilla and mandible. Both deciduous and permanent teeth were not erupted in the oral cavity at all. Mutation in the Son-of-Sevenless (SOS-1 gene has been associated with the disease. The diagnosis was made based on clinical examination and family history. Surgical removal of the hyperplastic tissue was performed under general anesthesia.

Phaeochromocytoma presenting with polyuria: an uncommon presentation of a rare tumour

OpenAIRE

Atapattu, N; Imalke, K A C P; Madarasinghe, M; Lamahewage, A; de Silva, K S H

2014-01-01

Summary Children rarely present with phaeochromocytoma. Their presentation differs from that of adults. The classic triad of sweating, headache and palpitation may not always present in children with phaeochromocytoma. In this study, we present a 6-year-old girl who came to us with polyuria and polydipsia for evaluation of suspected diabetes insipidus. She gave a clear history of increased sweating in the recent past. On clinical examination, she was noted to have high blood pressure. Subsequ...

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

Science.gov (United States)

2014-01-01

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

[Rare side effects in management of hyperthyroidism. Case report].

Science.gov (United States)

Sohár, Gábor; Kovács, Mónika; Györkös, Andrea; Gasztonyi, Beáta

2016-05-29

The authors present the case history of a patient suffering from hyperthyroidism. The diagnostic procedures revealed the presence of propylthiouracyl induced vasculitis with renal involvement, that recovered completely after the withdrawal of propylthiouracyl and corticosteroid treatment. Thereafter, the patient was treated with thiamasol, that caused agranulocytosis with fever. After transient litium carbonate therapy a succesful thyreoidectomy was performed. Cumulative serious side effects of antithyroid drugs are rare. This case highlights some of the challenges and complications encountered in the management of hyperthyroidism.

Intrapartum diagnostic of Roberts syndrome - case presentation.

Science.gov (United States)

Socolov, Răzvan Vladimir; Andreescu, Nicoleta Ioana; Haliciu, Ana Maria; Gorduza, Eusebiu Vlad; Dumitrache, Florentin; Balan, Raluca Anca; Puiu, Maria; Dobrescu, Mihaela Amelia; Socolov, Demetra Gabriela

2015-01-01

Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called "pseudothalidomide disease"). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in moment of delivery, after a pregnancy without prenatal follow-up. The stillborn baby was naturally delivered by a 17-year-old primiparous woman at 38 weeks of amenorrhea. The pregnancy was not followed due to socioeconomic and family situation, and no prenatal ultrasound was performed. The male baby has 2650 g and presented several morphological abnormalities and tight double umbilical abdominal loop. The macroscopic evaluation showed: dolichocephaly, hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, pterygium colli, abnormal and lower implanted ears, superior limbs phocomelia, syndactyly at lower left limb and tetradactyly in all limbs, bilateral cryptorchidism, pancreatic aplasia. Roberts syndrome is a rare genetic disease with recessive autosomal transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined the diagnostic at term. We believe consider this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies. To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission.

A rare case of de novo gigantic ovarian abscess within an endometrioma.

Science.gov (United States)

Hameed, Aisha; Mehta, Vaishali; Sinha, Prabha

2010-06-01

We are reporting a rare case of de novo ovarian abscess in an endometrioma. Ovarian abscess within an endometrioma is a rare gynecological problem, but de novo abscess in the endometrioma is even rarer. Most of the ovarian abscesses develop in the endometriomas following interventions, e.g., aspiration, pelvic surgery, and oocyte retrieval. We are presenting a case of a spontaneous giant abscess in a large ovarian cyst in a nulliparous woman who presented with acute abdomen. Patient was treated in a district general hospital with multidisciplinary approach. Thirteen liters of the pus were drained. She has had a sub total (supra cervical) hysterectomy and bilateral salpingo-oophorectomy (BSO) performed. Histology of the abscess wall confirmed endometriotic nature of the cyst. Patient made an uneventful recovery and was discharged home on the 14th postoperative day. This case highlights that endometrioma and its complication can present as a surgical emergency and should be dealt as one.

A rare case of unifocal, unilateral pigmented paravenous retinochoroidal atrophy (PPRCA

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Meleha Ahmad

2016-12-01

Conclusions and importance: PPRCA is typically bilateral and symmetric, affecting primarily the outer retina and choroid. However, in rare cases, this disease can present unilaterally and/or unifocally, with degeneration extending to the inner retinal layers.

Ingested razor blades within the appendix: A rare case report

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Jason Cui

Full Text Available Introduction: Foreign body ingestion is a common clinical presentation with less than 1% of the cases requiring surgical intervention. In this report, we present a rare case of razor blades lodged in the appendix as a result of intentional ingestion. Presentation of case: A 25 year old male prisoner presented to our hospital with persistent right iliac fossa pain after razor blade ingestion. After 5 days of conservative management, there was no sign of transition on serial X-Rays. Laparoscopy with intraoperative image intensification confirmed the presence of the razor blades in the appendix and appendicectomy was subsequently performed without complications. Discussion: Most ingested objected with diameter less than 2.5 cm and length less than 6 cm can pass through the gastrointestinal tract spontaneously in less than one week. The entry of foreign objects into the appendix is thought to be due to relative low motility of the caecum, the dependent position of the appendix and the size of the appendiceal orifice. Radiographic localisation to the appendiceal lumen was complicated by metallic artefact, but was consistent with failure to transit. Appendicectomy was felt to be the safest mode of retrieval. Conclusion: Ingested foreign body lodged in the appendix is a rare event. Once the exact location is confirmed, a simple laparoscopic appendicectomy can be performed to facilitate the removal. Keywords: Appendicitis, Laparoscopy, Appendicectomy, Foreign body ingestion, Razor blades, Case report

A Rare Case of Malignant Glomus Tumor of the Esophagus

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Gurvinder Singh Bali

2013-01-01

Full Text Available Glomus tumors are rare neoplasms that usually occur on the hands in a subungual location, or sometimes in palms, wrists or soles of the feet. They are described as purple/pink tiny painful lesions with a triad of pain, local point tenderness, and cold hypersensitivity. They are almost always benign, but rare malignant variants have been reported. They have also been reported to be present at unusual locations, like the lung, stomach, or liver. Gastrointestinal glomus tumors are extremely rare tumors and very few cases have been reported in the literature. Most that have been reported were usually benign in nature. A rare esophageal glomangioma, mimicking a papilloma, was reported in 2006. We report a case of glomangiosarcoma (malignant glomus tumor in a 49-year-old female, who presented with symptoms of dysphagia including some spasm and hoarseness and subjective unintentional weight loss. On endoscopic exam, she was found to have a distal esophageal mass with malignant features. Radiologically, the mass had a size of about 8 cm on the CT scan without evidence of metastases. Pathology and immunostaining of the biopsy showed features resembling a malignant glomus tumor. She underwent an endoscopic and laparoscopic staging of the tumor along with ultrasound. Based on the laparoscopic findings, which were consistent with the preoperative diagnosis, she was scheduled for an esophagectomy. Histopathology and immunophenotypic features of the excised mass were consistent with a diagnosis of malignant glomus tumor.

Rare Presentation of Prostate Cancer Mimicking Malignant Lymphoma with Generalized Lymphadenopathy

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Yu-Fen Tsai

2014-06-01

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

Sirenomelia: A Rare Presentation

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

2012-01-01

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

Sirenomelia: a rare presentation.

Science.gov (United States)

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

2012-01-01

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

Eosinophilic Gastroenteritis Presenting as Intestinal Obstruction - A Case Series

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Amita Krishnappa

2011-07-01

Full Text Available Eosinophilic Gastroenteritis is a rare disease characterized by infiltration of the gastrointestinal tract by an increased number of eosinophils as compared to the normal. The anatomic location and intensity of the infiltrate decides the varied clinical symptomatology with which these patients present. The present report deals with four cases, all presenting with clinical signs of intestinal obstruction A laparotomy performed revealed a stricture in the first case, superficial ulcers and adhesions in the second case, an ileocaecal mass in the third case and volvulus formation in the fourth case. Eosinophilic gastroenteritis was confirmed on histopathology in all the four cases. All the four patients experienced relief of symptoms after resection. It is essential to diagnose the disease to differentiate it from other conditions presenting as intestinal obstruction. The cases are presented because of the rarity of occurrence and presentation. Relevant literature has been reviewed.

A Rare Case: Gastric Cancer; Involving Primery Thoracal Vertebral Metastases

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Harun Arslan

2013-06-01

Full Text Available Primery bone metastases rarely occur in gastric cancer. Bone metastases indicate that the prognosis is bad. In that article we present a case that is diagnosed as a gastric cancer with primary bone metasteses that caused pathologic thoracal vertebral fracture seenby computer ised tomography.

Reducing selection bias in case-control studies from rare disease registries.

Science.gov (United States)

Cole, J Alexander; Taylor, John S; Hangartner, Thomas N; Weinreb, Neal J; Mistry, Pramod K; Khan, Aneal

2011-09-12

In clinical research of rare diseases, where small patient numbers and disease heterogeneity limit study design options, registries are a valuable resource for demographic and outcome information. However, in contrast to prospective, randomized clinical trials, the observational design of registries is prone to introduce selection bias and negatively impact the validity of data analyses. The objective of the study was to demonstrate the utility of case-control matching and the risk-set method in order to control bias in data from a rare disease registry. Data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry were used as an example. A case-control matching analysis using the risk-set method was conducted to identify two groups of patients with type 1 Gaucher disease in the ICGG Gaucher Registry: patients with avascular osteonecrosis (AVN) and those without AVN. The frequency distributions of gender, decade of birth, treatment status, and splenectomy status were presented for cases and controls before and after matching. Odds ratios (and 95% confidence intervals) were calculated for each variable before and after matching. The application of case-control matching methodology results in cohorts of cases (i.e., patients with AVN) and controls (i.e., patients without AVN) who have comparable distributions for four common parameters used in subject selection: gender, year of birth (age), treatment status, and splenectomy status. Matching resulted in odds ratios of approximately 1.00, indicating no bias. We demonstrated bias in case-control selection in subjects from a prototype rare disease registry and used case-control matching to minimize this bias. Therefore, this approach appears useful to study cohorts of heterogeneous patients in rare disease registries.

Gorlin-Goltz syndrome: A rare case report.

Science.gov (United States)

Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-10-01

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts.

A case report on esophageal tuberculosis – A rare entity

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Vatsal Khanna

2017-01-01

Full Text Available This is a case report of a rare form of tuberculosis in a patient presenting with dysphagia. Patient was subjected to upper gastrointestinal endoscopy, which revealed an ulcerative growth in the distal esophagus. Histopathology revealed esophageal tuberculosis. Patient was managed conservatively with Anti-Tuberculosis Treatment (ATT. Follow up endoscopy after two months revealed resolution of the growth and patient was symptomatically better. In spite of the rare nature of the disease, it can be managed effectively with ATT to avoid complications (fistula, stricture, and esophageal perforation, which might warrant surgery.

Cronkhite-Canada Syndrome (CCS)-A Rare Case Report.

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Chakrabarti, Subrata

2015-03-01

Cronkhite-Canada syndrome (CCS) is an extremely rare non-inherited condition characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation, weight loss and diarrhoea. The aetiology is probably autoimmune and diagnosis is based on history, physical examination, endoscopic findings of gastrointestinal polyposis, and histology. The disease is very rare; approximately 450 cases of CCS have been reported worldwide. The author reports a case of CCS in an elderly Indian male.

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

Science.gov (United States)

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

2016-01-01

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

Ulcerative giant solitary trichoepithelioma of scalp: a rare presentation

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Sundeep Chowdhry

2016-07-01

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

A Rare Case of Epiphyseal Chondromyxoid Fibroma of the Proximal Tibia

International Nuclear Information System (INIS)

Choi, Yun Sun; Kim, Byoung Suck; Lee, Seok Hoon; Song, Baek Yong; Park, Yong Koo

2011-01-01

Chondromyxoid fibroma is an uncommon benign cartilaginous tumor of the bone. It occurs most frequently in the metaphysis of long tubular bones, and an epiphyseal location is exceedingly rare. We present here an unusual case of a chondromyxoid fibroma that occurred in the epiphysis of the proximal tibia with an open growth plate. MR imaging findings of this tumor, which has, to the best of our knowledge, never been described in an epiphyseal location, makes the present case unique.

Intraoral hydatid cyst: A rare case report

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Ravi Kiran Alaparthi

2015-01-01

Full Text Available "Hydatid" is a Greek word which means "a drop of water." Hydatid cysts occur in hydatid disease or echinococcosis, which is one of the most geographically prevalent zoonosis. This zoonotic infection in humans is mainly caused by infection by the larval stage of the dog tapeworm Echinococcus granulosus. This tapeworm infestation is widespread in sheep, goats, cattle, and dogs. This chronic disease is present worldwide among herding populations who live in close proximity to dogs and herd animals. It is a serious and potentially fatal condition and symptoms may occur a long time after the early infection. The most frequently affected organs are liver, lungs, followed by bones and brain, and extremely unusual occurrence has been found in the oral cavity, which was noticed in the present case. So hereby, we reveal a very rare case of intraoral hydatid cyst in a 20-year-old female patient.

A rare presentation of disseminated tuberculosis: Prostatic abscess.

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

2017-10-01

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

Christ siemens touraine syndrome: A rare case report

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N Retnakumari

2016-01-01

Full Text Available Christ-Siemens-Touraine (CST is a rare hereditary disorder of X-linked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin. The common clinical findings include hypodontia, hypohydrosis, hypotrichosis, and onychodysplasia. Although hypodontia is common, anodontia is a rare feature. Most of the patients are suffering from social rejection and consequent psychological trauma because of the facial dysmorphism and absence of multiple teeth. Oral rehabilitation is of prime importance for such patients. This article presents a case in a 5½-year-old boy presenting with altered manifestations affecting almost all the ectodermal structures like skin, hair, nails, teeth, sebaceous glands, sweat glands, salivary glands, mammary glands, and tear glands. He also had complete anodontia and dry mouth. A multidisciplinary treatment was given to the patient with the collaboration of various health professionals. The child gained confidence and was relieved from the psychological impact following the prosthetic rehabilitation.

Christ Siemens Touraine syndrome: A rare case report.

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Retnakumari, N; Varghese, Manuja; Kannan, V P

2016-01-01

Christ-Siemens-Touraine (CST) is a rare hereditary disorder of X-linked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin. The common clinical findings include hypodontia, hypohydrosis, hypotrichosis, and onychodysplasia. Although hypodontia is common, anodontia is a rare feature. Most of the patients are suffering from social rejection and consequent psychological trauma because of the facial dysmorphism and absence of multiple teeth. Oral rehabilitation is of prime importance for such patients. This article presents a case in a 5½-year-old boy presenting with altered manifestations affecting almost all the ectodermal structures like skin, hair, nails, teeth, sebaceous glands, sweat glands, salivary glands, mammary glands, and tear glands. He also had complete anodontia and dry mouth. A multidisciplinary treatment was given to the patient with the collaboration of various health professionals. The child gained confidence and was relieved from the psychological impact following the prosthetic rehabilitation.

Sirenomelia: A Rare Case of Foetal Congenital Anomaly

OpenAIRE

Dharmraj, Meena; Gaur, Sumitra

2012-01-01

Sirenomelia, alternatively known as ?mermaid syndrome? is a very rare congenital deformity in which the legs are fused together, giving them the appearance of the tail of a mermaid?. Other birth defects are always associated with sirenomelia, most commonly abnormalities of the kidneys, large intestines, and genitalia. The present case is a one of sirenomelia associated with an absent right kidney, mild left hydronephrosis, single umbilical artery, and severe oligohydramnios. We discuss the fi...

Urachal adenocarcinoma: a rare case report

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Bo Bao

2017-03-01

Full Text Available Urachal carcinoma is a rare and aggressive form of bladder cancer involving the urachus, a fibrous remnant of the allantois that extends from the bladder to the umbilicus. We report this case of a 49-year-old women with primary urachal adenocarcinoma treated with partial cystectomy who relapsed 5 years after surgery with lung metastases. This patient with unremarkable medical history presented with abdominal discomfort and a palpable pelvic mass. Follow-up imaging reveals a large mass on the dome of the bladder extending from the urachus. Subsequent ultrasound-guided biopsy result was suggestive of an urachal mucinous adenocarcinoma. The patient was treated surgically with a partial cystectomy.

Pediatric gliosarcoma with fibrosarcomatous differentiation: Report of a rare case

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Shantha Ravisankar

2012-01-01

Full Text Available Gliosarcoma is a rare variant of glioblastoma with a biphasic pattern showing glial and mesenchymal differentiation. It is seen in adults during their fifth to sixth decades of life and is extremely rare in children. We report a case of primary gliosarcoma with fibrosarcomatous differentiation in an 11-year-old boy presenting with headache and vomiting. Imaging showed a contrast-enhancing isodense space-occupying lesion with areas of calcification in the right temporoparietal cortex. A total excision was done and, on histopathologic examination, a differential diagnostic consideration of gliosarcoma and teratoma with malignant transformation was made. After immunohistochemical analysis, a final diagnosis of gliosarcoma with fibrosarcomatous differentiation was then made. Primary gliosarcoma is a very rare tumor in children with a poor prognosis.

A rare case of Moebius sequence

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Abhishek Kulkarni

2012-01-01

Full Text Available We report a case of an 18-year-old male who presented with watering and inability to close the left eye completely since 6 months and inability to move both eyes outward and to close the mouth since childhood. Ocular, facial, and systemic examination revealed that the patient had bilateral complete lateral rectus and bilateral incomplete medial rectus palsy, left-sided facial nerve paralysis, thickening of lower lip and inability to close the mouth, along with other common musculoskeletal abnormalities. This is a typical presentation of Moebius syndrome which is a very rare congenital neurological disorder characterized by bilateral facial and abducens nerve paralysis. This patient had bilateral incomplete medial rectus palsy which is suggestive of the presence of horizontal gaze palsy or occulomotor nerve involvement as a component of Moebius sequence.

Congenital epulides: A rare case report

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Saurabh Kumar

2014-01-01

Full Text Available Congenital epulis (CE or "Granular cell epulis" also previously termed as "Neumann′s tumor" is a benign growth arising from the mucosa of the gingiva, typically seen as a mass protruding from the infant′s mouth, often interfering with respiration and feeding. These tumors generally present as a single mass arising from the upper alveolus. We report a rare case of two congenital epulides arising from the maxillary and mandibular alveolus in a day old female infant, which was surgically excised, allowing for early initiation of breast feeding. The tumor cells stained negative for S100 protein hence differentiating from other granular cell tumors. The clinical presentation, differential diagnosis in regard to the various neonatal oral swellings and the management of CE has been discussed.

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

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Mamatha Reddy

2017-01-01

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

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

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Reddy, Mamatha; Venugopal, Ramya; Prakash, Peralam Yegneswaran; Kamath, Yogish Subraya

2017-09-01

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

Chondroblastoma of the thoracic spine: a rare location. Case report with radiologic-pathologic correlation

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Venkatasamy, A. [University Hospital of Strasbourg, Department of Radiology, Strasbourg (France); Chenard, M.P. [University Hospital of Strasbourg, Department of Pathology, Strasbourg (France); Massard, G. [University Hospital of Strasbourg, Department of Thoracic Surgery, Strasbourg (France); Steib, J.P. [University Hospital of Strasbourg, Department of Spine Surgery, Strasbourg (France); Bierry, G. [University Hospital of Strasbourg, Department of Radiology, Strasbourg (France); University Hospital of Strasbourg, Department of Pathology, Strasbourg (France); University Hospital of Strasbourg, Department of Thoracic Surgery, Strasbourg (France); University Hospital of Strasbourg, Department of Spine Surgery, Strasbourg (France)

2017-03-15

Chondroblastoma is a rare benign cartilage neoplasm that arises from the appendicular skeleton in the vast majority of the cases (80%). Chondroblastoma of the spine is an even more rare condition (30 cases reported), and vertebral chondroblastomas, unlike chondroblastomas of the extremities, present with the appearance of an aggressive tumor on CT and MR imaging and occur at least a decade later. Even though vertebral chondroblastomas are very uncommon tumors, they should nonetheless be included in the differential diagnosis when encountered with an aggressive vertebral mass, and a histological confirmation should be performed. We present a case of chondroblastoma of the thoracic spine of a 27-year-old female for which detailed radiologic-pathologic correlation was obtained. (orig.)

A Rare Primary Pelvic Hydatid Cyst Presenting as Sciatica

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Praveen S Rathod

2012-04-01

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

Progeria in siblings: A rare case report

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R Sowmiya

2011-01-01

Full Text Available Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare, severe genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. It is an autosomal dominant disorder. It is not seen in siblings of affected children although there are very few case reports of progeria affecting more than one child in a family. Here we are presenting two siblings, a 14-year-old male and a 13-year-old female with features of progeria, suggesting a possible autosomal recessive inheritance.

Gorlin-Goltz syndrome: A rare case report

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Chetan A Pol

2013-01-01

Full Text Available Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts.

Cystic fibroadenoma: report of a rare case with review of literature.

Science.gov (United States)

Bhat, Amoolya; Vijaya, C; Gowda, V S Shankare

2015-01-01

Fibroadenomas with a predominant cystic change are called cystic fibroadenomas. These are extremely rare forms of fibroadenomas and only one case has been reported so far. They are classified under the category of complex fibroadenomas. Complex fibroadenomas are a rare variant of fibroadenomas occurring in elderly females. They are characterized by presence of one of the complex features along with the usual patterns of fibroadenoma such as cysts more than 3 mm, papillary apocrine metaplasia, or sclerosing adenosis. Patients with these lesions have higher chances of developing carcinoma of breast. We present a case of 35 years old lady with a freely mobile mass in the left breast diagnosed as cystic fibroadenoma after thorough histopathological examination of the lesion.

AN UNUSUAL PRESENTATION OF A HUGE BREAST TUMOUR IN AN ELDERLY FEMALE: A CASE REPORT

OpenAIRE

Prasenjit; Sudipta; Subir Kumar; Himadri Sekhar; Amalesh

2014-01-01

Pleomorphic breast carcinoma is a rare variety of breast carcinoma, with a highly aggresive behaviour and poor prognosis, which usually presents after 50 years of age. Our case presented in a very similar way as phyllodes’ tumour of breast (even the FNAC report also suggested it as a case of phyllodes’ tumour). But postoperative histopathological report clearly revealed it as a case of this rare entity of pleomorphic carcinoma of breast

Comparison between Three Rare Cases of Co‑Infection with ...

African Journals Online (AJOL)

Co‑infection in immunocompetent patients is rare. Though co‑infection with dengue and leptospira cases is increasingly reported, a co‑infection of this combination along with hepatitis E is rarely thought of. Until date only two case of triple co‑infection have been reported world‑wide. Here, we are reporting a patient with ...

Reducing selection bias in case-control studies from rare disease registries

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Mistry Pramod K

2011-09-01

Full Text Available Abstract Background In clinical research of rare diseases, where small patient numbers and disease heterogeneity limit study design options, registries are a valuable resource for demographic and outcome information. However, in contrast to prospective, randomized clinical trials, the observational design of registries is prone to introduce selection bias and negatively impact the validity of data analyses. The objective of the study was to demonstrate the utility of case-control matching and the risk-set method in order to control bias in data from a rare disease registry. Data from the International Collaborative Gaucher Group (ICGG Gaucher Registry were used as an example. Methods A case-control matching analysis using the risk-set method was conducted to identify two groups of patients with type 1 Gaucher disease in the ICGG Gaucher Registry: patients with avascular osteonecrosis (AVN and those without AVN. The frequency distributions of gender, decade of birth, treatment status, and splenectomy status were presented for cases and controls before and after matching. Odds ratios (and 95% confidence intervals were calculated for each variable before and after matching. Results The application of case-control matching methodology results in cohorts of cases (i.e., patients with AVN and controls (i.e., patients without AVN who have comparable distributions for four common parameters used in subject selection: gender, year of birth (age, treatment status, and splenectomy status. Matching resulted in odds ratios of approximately 1.00, indicating no bias. Conclusions We demonstrated bias in case-control selection in subjects from a prototype rare disease registry and used case-control matching to minimize this bias. Therefore, this approach appears useful to study cohorts of heterogeneous patients in rare disease registries.

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

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Rupesh Kumar

2014-01-01

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

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

Science.gov (United States)

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

2017-08-01

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

Ankyloglossia with cleft lip: A rare case report

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Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

2015-01-01

Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development. PMID:26941523

Ankyloglossia with cleft lip: A rare case report

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Kritika Jangid

2015-01-01

Full Text Available Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development.

Penile Duplication and Two Anal Openings; Report of a Very Rare Case

OpenAIRE

Bakheet, Mohamed Abdel Al M.; Refaei, Mohammad

2012-01-01

Background Penile duplication (diphallus) is an extremely rare disorder. It is almost always associated with other malformations like double bladder, exstrophy of the cloacae, imperforate anus, duplication of the rectosigmoid and vertebral deformities. Meanwhile anal canal duplication, the most distal and least common duplication of the digestive tube and is a very rare congenital malformation. Case Presentation A 21 days old Egyptian neonate is reported with complete penile duplication and t...

Infantile holocord cellular ependymoma with communicating hydrocephalus: unusual presentation of a rare case.

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Aryan, Saritha; Ghosal, Nandita; Aziz, Zarina A; Hegde, A S; Dadlani, Ravi

2014-01-01

We present a case of infantile holocord ependymoma in a 4-month-old boy who presented with infection of ventriculoperitoneal shunt done elsewhere for a communicating hydrocephalus. On magnetic resonance imaging, a diffuse holocord T2-hyperintense, T1-hypointense intramedullary bulky lesion with syringomyelia in the cervical level was seen. To the best of our knowledge, this is the first case of infantile holocord ependymoma. As the extent of morbidity associated with a spinal cord tumor is high, an increased level of suspicion and the need for a complete spinal cord screening in a case of infantile hydrocephalus without obvious clinical and radiological evidence of intracranial abnormality is emphasized.

Metastasis of Lung Adenocarcinoma to the Gingiva: A Rare Case Report

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M. Rajini Kanth

2015-05-01

Full Text Available Metastatic tumors account for 1% of all oral malignancies. Metastasis to jaw bones is common, particularly in the mandible, rare in the oral soft tissues, and account for only 0.1% of oral malignancies. The majority of metastatic cases (70% reported in the literature have primary tumors located in the lung, breast, kidney, and colon. Metastasis is a biological complex process that involves detachment from the surrounding cells, regulation of cell motility, invasion, survival, proliferation, and evasion of the immune system. Clinical presentation of metastatic tumors is variable, which may create diagnostic dilemma or may lead to erroneous diagnosis. Metastatic tumors clinically mimic as dental infections. Metastasis to the oral soft tissue from lung cancer, especially gingiva is a rare condition. Metastasis to the gingiva can affect the oral function, speech, and nutrition. Most of the cases in the literature reported that lesion presented in oral soft tissues before the diagnosis of primary tumors. Here we report a case of 62-year-old male patient with metastasis from lung to the gingiva, where the metastasis was detected before primary tumor.

Humeral Metastasis from Cervical Cancer: A Rare Case Report

OpenAIRE

Sonia Chhabra; KanikaTaneja; Megha Ralli; Sunita Singh; Aditi Arora; Sohrab Arora; Pansi Gupta

2015-01-01

Long bone metastasis in cervical cancer is a rare presentation generally seen in the lumbar column or ribs. The reported rates of bone metastases are between 15%-29%. It is associated with poor prognosis. Bone scan and magnetic resonance imaging are useful techniques for diagnosis. In this case report, a 32-year old female with a previous history of cervical carcinoma FIGO stage IIIA presented with severe pain and swelling in her right humerus. X-ray and magnetic resonance imag...

A Rare Case of Pneumonia Caused by Shewanella putrefaciens

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Rajshree Patel

2012-01-01

Full Text Available Shewanella putrefaciens is a gram-negative, nonfermentative, oxidase positive, motile bacillus that produces hydrogen sulphide. It is found widely in the nature especially in marine environments. In some very rare cases Shewanella putrefaciens can be a human pathogen. It can produce a wide variety of clinical syndromes including bacteremia as well as skin and soft tissue infections. However, pneumonia due to S. putrefaciens is rare; there are a total of 4 reported cases in the literature. We present a case of 63-year-old male who was presented to emergency room status after cardiac arrest, fell into sea water face down. On the second day of hospitalization, he was diagnosed to have pneumonia based on the clinical, radiological, and laboratory findings. Empirical antibiotic treatment with vancomycin and piperacillin/tazobactam combination was initiated. Gram-stained smear of endotracheal aspirate yielded gram-negative bacteria, and the isolate grown from endotracheal aspirate culture was identified as S. putrefaciens by Biomerieux API 20 NE technique. On review of the literature and according to culture and sensitivity results, therapy in our patient was changed to cefepime. Patient’s pneumonia improved with treatment with cefepime. We believe that our patient developed pneumonia evidently caused by S. putrefaciens, after near drowning in sea water. The pneumonia resolved after treatment with cefepime.

Primary peritoneal serous carcinoma: A rare case and palliative approach

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Viral M Bhanvadia

2014-01-01

Full Text Available Primary peritoneal serous carcinoma (PPSC is a rare primary malignancy that diffusely involves the peritoneum, indistinguishable clinically and histopathologically from primary serous ovarian carcinoma. The origin of PPSC has not been well characterized. Here we present a case of PPSC diagnosed in ultrasonography-guided fine needle aspiration cytology (FNAC in a 76- old female presenting with ascites, abdominal pain, distension and constipation. PPSC is an unusual tumour but cytomorphology is distinctive enough to diagnose preoperatively. In the case report hereby described PPSC is an inoperable malignancy, hence chemotherapy and palliative care are the only offered treatment.

Zosteriform Lichen Planus: case report of a rare variant of Lichen Planus

OpenAIRE

Kanthilatha Pai; Sathish Pai

2013-01-01

Since its original description by Devergie in 1854, several cases of linear lichen planus have been described in the literature, but there have been notably few cases of the more rare zosteriform lichen planus. Zosteriform lichen planus needs to be differentiated from linear lichen planus and other linear dermatoses. We present a case of Zosteriform Lichen planus for its rarity and briefly review literature.

An aggressive angiomyxoma of vulva - A rare entity - A case report

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Bishnu Prasad Das

2016-01-01

Full Text Available Aggressive angiomyxoma is a rare, locally invasive mesenchymal tumor predominantly presenting in women of reproductive age and also having a moderate-to-high risk for local relapse. Hence, it needs to be differentiated from other mesenchymal tumors occurring in this region. We present here a case of a 40-year-old female presenting with a large, fleshy, pedunculated mass on the right labia majora.

A giant occipital encephalocele with spontaneous hemorrhage into the sac: A rare case report

OpenAIRE

Nath, H. D.; Mahapatra, A. K.; Borkar, S. A.

2014-01-01

In giant encephalocele, head size is smaller than the encelphalocele. Occipital encephalocele is the commonest of all encephalocele. In our case, there was rare association with giant encephalocele with old hemorrhage in the sac. This was a unique presentation. In world literature, there was rare association with giant encephalocele with hemorrhage.

Abdominal pregnancy - Case presentation.

Science.gov (United States)

Bohiltea, R; Radoi, V; Tufan, C; Horhoianu, I A; Bohiltea, C

2015-01-01

Abdominal pregnancy, a rare diagnosis, belongs to the ectopic pregnancy group, the leading cause of pregnancy related exitus. The positive diagnosis is very difficult to establish most often in an acute setting, leading to a staggering percent of feto-maternal morbidity and mortality. We present the case of 26-weeks-old abdominal pregnancy with partial feto-placental detachment in a patient, after hysteroscopy and in vitro fertilization, which until the acute symptoms that led to emergency laparotomy went unrecognized. The patient recovered completely and satisfactorily after surgery and, due to the high risk of uterine rupture with regard to a second pregnancy, opted for a surrogate mother. Abdominal pregnancy can be regarded as a difficult to establish diagnosis, with a greater chance in case of increased awareness. It is compulsory to be well informed in order not to be surprised by the diagnosis and to apply the correct treatment immediately as the morbidity and mortality rate is elevated.

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

African Journals Online (AJOL)

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

A Case of True Hermaphroditism Presenting as a Testicular Tumour

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Michelle Ceci

2015-01-01

Full Text Available True hermaphroditism represents only 5% cases of all of disorders of sexual differentiation (DSD and usually present in early childhood with ambiguous genitalia. Occasionally, cases might present later on in adolescence with problems of sexual maturation. Our case report presents a true hermaphrodite with normal male phenotype that presented as a left testicular mass, two years after being diagnosed with Sertoli cell only syndrome in the contralateral testis. Histological examination of the left testis showed ovarian, fallopian tube, myometrial, endometrial, and epididymal tissue. This combination of findings is found in approximately one-third of true hermaphrodites, but it is very rare to present clinically as an inguinoscrotal mass.

A giant occipital encephalocele with spontaneous hemorrhage into the sac: A rare case report

Science.gov (United States)

Nath, H. D.; Mahapatra, A. K.; Borkar, S. A.

2014-01-01

In giant encephalocele, head size is smaller than the encelphalocele. Occipital encephalocele is the commonest of all encephalocele. In our case, there was rare association with giant encephalocele with old hemorrhage in the sac. This was a unique presentation. In world literature, there was rare association with giant encephalocele with hemorrhage. PMID:25685207

Dens evaginatus and dens invaginatus in a double tooth: A rare case report

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Gaurav Sharma

2015-01-01

Full Text Available The presence of dens invaginatus (DI and dens evaginatus (DE on same tooth is a rare phenomenon. However, when these dental anomalies occur on a double tooth, it becomes an extremely rare phenomenon. The authors report a rare case of DI and DE on fused permanent maxillary central incisor with supernumerary tooth in a 40-year-old male. The present article also focuses on the differentiating fusion from gemination and also reviews preventive and management strategies for tooth with complex dental anatomy.

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

LENUS (Irish Health Repository)

2012-01-31

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

Parathyroid carcinoma: an unusual presentation of a rare neoplasm

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Shruti, Sharma

2017-12-01

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

Aneurysmal bone cyst of maxillary alveolus: A rare case report

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Subhas Chandra Debnath

2016-01-01

Full Text Available Aneurysmal bone cyst (ABC is a nonneoplastic rare pathologic entity of the jaws. Its locally aggressive nature and high recurrence rate after curettage make surgical resection a better treatment option. Here, we present a case of ABC of maxillary alveolus and its management by alveolectomy followed by white head varnish pack application in the surgical defect.

Aneurysmal bone cyst of maxillary alveolus: A rare case report

Science.gov (United States)

Debnath, Subhas Chandra; Adhyapok, Apurba Kumar; Hazarika, Kriti; Malik, Kapil; Vatsyayan, Ashutosh

2016-01-01

Aneurysmal bone cyst (ABC) is a nonneoplastic rare pathologic entity of the jaws. Its locally aggressive nature and high recurrence rate after curettage make surgical resection a better treatment option. Here, we present a case of ABC of maxillary alveolus and its management by alveolectomy followed by white head varnish pack application in the surgical defect. PMID:27041915

A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy

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Garima Agrawal Varshney

2018-01-01

Full Text Available Acute intermittent porphyria (AIP and ichthyosis vulgaris both are autosomal dominant disorders with incomplete penetrance caused by the deficiency of porphobilinogen deaminase enzyme and filaggrin protein, respectively. We report a rare case of a 9-year-old boy having two genetic diseases with an unclear association. An acute attack of AIP is characterized by gastrointestinal symptoms and neuropsychiatric manifestations. Although rare in the first decade of life, the presence of reddish urine with a typical presentation such as abdominal pain, hypertension, seizure, and paresthesias lead us to the diagnosis of AIP. The precipitating factor in the present case was prolonged fasting in Ramadan.

A rare case of traumatic chylothorax after blunt thoracic trauma

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Spasić Marko

2017-01-01

Full Text Available Introduction. Chylothorax is an accumulation of chyle in the pleural cavity due to a disruption of the thoracic duct. Traumatic chylothoraces are usually a result of a penetrating trauma and disruption of the thoracic duct, but blunt traumatic chylothorax is a rare condition. The aim of this paper is to present a rare case of traumatic chylothorax after blunt thoracic trauma. Case Outline. We present a case of traumatic chylothorax after blunt thoracic trauma in a patient injured in a motor vehicle accident. The patient had a right-sided fracture of rib XI, hydropneumothorax, lung contusion, and signs of pneumomediastinum. We performed thoracic drainage, but a few days later, according to the increase of amount of the fluid daily drained, and the confirmation of laboratory findings of the analyzed fluid, we made a diagnosis of chylothorax and the patient underwent a thoracotomy, where we sutured the thoracic duct. Conclusion. Chylothorax should be considered in patients after chest trauma if they develop a milky pleural effusion. Analysis of pleural fluid and level of triglycerides is important for the diagnosis and treatment of chylothorax. [Project of the Serbian Ministry of Education, Science and Technological Development, Grant no. III41007

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

Science.gov (United States)

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

2013-04-01

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

A rare case of acute poster ior reversible encephalopathy syndrome involving brainstem in a child

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Olfa Chakroun-Walha

2016-11-01

Full Text Available Posterior reversible encephalopathy syndrome (PRES is a rare entity involving brainstem in very rare reported cases. We describe here the case of a boy who presented to the emergency department for headaches and strabismus. Diagnosis of PRES was retained by magnetic resonance imaging. The causes were blood pressure urgency and renal failure. Location of lesions was very rarely reported in literature and neurological troubles were persistent. Emergency physicians should evocate PRES each time there is a clinical context associated with neurological troubles by a normal brain CT scan. Early diagnosis is very important to treat its causes and improve prognosis.

'Case reporting of rare adverse events in otolaryngology': can we defend the case report?

LENUS (Irish Health Repository)

Dias, Andrew

2012-01-31

The study of errors in medicine has proliferated since the publication of The Institute of Medicine Report \\'TO ERR IS HUMAN\\' in 2000. Case nuances and process of care issues are valuable areas to explore if the goal is to provide the health care worker with the knowledge to avoid future errors. Meta-analysis and randomized controlled trials provide a large data base of evidence towards improvement and opportunities, but it is suggested that case reports can still provide valuable clinical information. The aim is to use the published literature to produce a series of rare harm case reports in E.N.T. The methods include systematic literature review. Journals searched in PUBMED were 60. Rare harm case obtained from the search were 5,322. Rare harm case reports not reported in any other form of evidence-based medicine were 40. Yes, the case report can be defended as it is an important pillar of evidence-based medicine.

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

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Kaushik Ghosh

2012-01-01

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

Polycythemia vera presenting with bilateral papilledema: A rare case report

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Parija S

2008-01-01

Full Text Available A 45-year-old male patient presented with gradual onset of headache, vomiting and blurring of vision of 28 days duration. Ophthalmological examination revealed normal anterior segment and pupillary reflex. No abnormality was detected in the vitreous. Optic disc showed features of advanced papilledema with normal macula and retinal periphery in both eyes. Visual acuity was 20/200 in the right eye and counting fingers close range in the left eye. Non-contrast computed tomography of brain was normal and magnetic resonance imaging showed sagittal sinus thrombosis without any evidence of venous infarction or intracranial mass. Routine hematological investigations revealed increased hemoglobin level, packed cell volume and leucocytosis. Further investigation revealed increased Vitamin B12 and decreased serum erythropoietin. A diagnosis of polycythemia vera was made from the above findings. This case is being presented for the rarity of association of polycythemia vera with bilateral advanced papilledema due to sagittal sinus thrombosis.

Coexistence of morphea and granuloma annulare: a rare case report

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Şenay Ağırgöl

2017-11-01

Full Text Available ABSTRACT CONTEXT: Localized scleroderma (morphea is characterized by fibrosis of skin and subcutaneous tissue. Granuloma annulare is a relatively common disease that is characterized by dermal papules and arciform plaques. CASE REPORT: Here, we present the case of a 42-year-old woman who developed granuloma annulare on the dorsum of her feet and abdominal region, and morphea on the anterior side of her lower limbs. We also discuss the etiological and pathogenetic processes that may cause the rare coexistence of these two diseases. CONCLUSION: Only a few cases in the literature have described coexistence of morphea and granuloma annulare.

Disseminated hydatid disease presenting as fever of unknown origin: A case report and review of literature

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Nikhil Gupta

2015-01-01

Full Text Available Human hydatid disease occurs due to infection with larval form of Echinococcus granulosus. The disseminated hydatid disease is a very rare finding. Disseminated hydatid disease presenting as a cause of fever of unknown origin is a rare phenomenon. We present to you such a rare case.

Report from Mongolia – How much do we know about the incidence of rare cases in less developed countries: a case series

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Dünser Martin W

2008-11-01

Full Text Available Abstract Introduction Case reports are important instruments to describe rare disease conditions and give a rough estimation of their global incidence. Even though collected in international databases, most case reports are published by clinicians from industrialized nations and little is known about the incidence of rare cases in less developed countries, which are home to 75% of the world's population. Case presentation We present seven patients who suffered from diseases which are either considered to be rare or have not yet been described before according to international databases, but occurred during a 5-month period in one intensive care unit of a less developed country. During the observation period, patients with a spontaneous infratentorial subdural hematoma (Asian, female, 41 years, general exanthema and acute renal failure after diesel ingestion (Asian, male, 30 years, transient cortical blindness complicating hepatic encephalopathy (Asian, female, 49 years, Fournier gangrene complicating acute necrotizing pancreatitis (Asian, male, 37 years, acute renal failure due to acetic acid intoxication (Asian, male, 42 years, haemolytic uremic syndrome following septic abortion (Asian, female, 45 years, and a metal needle as an unusual cause of chest pain (Asian, male, 41 years were treated. According to the current literature, all seven disease conditions are considered either rare or have so far not yet been reported. Conclusion The global incidence of rare cases may be underestimated by contemporary international databases. Diseases which are currently considered to be rare in industrialized nations may occur at a higher frequency in less developed countries. Reasons may not only be a geographically different burden of certain diseases, limited diagnostic and therapeutic facilities, but also a relevant publication bias.

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

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Irappa Madabhavi

2015-01-01

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

Primary Leiomyosarcoma of the Breast: A Rare Case Report

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Pallavi Agrawal

2015-08-01

Full Text Available Background: Primary leiomyosarcoma (LMS of the breast is a very rare neoplasm of the breast arising from the mesenchymal tissue. The clinical presentation of this entity simulates other benign and malignant lesions of mesenchymal tissue of the breast.Case presentation: Case 1: A 40-year-old female presented with a right-sided breast lump, which was suspected to be a malignant spindle cell tumor on needle core biopsy (NCB. A multi-disciplinary team performed modified radical mastectomy (MRM with axillary node dissection on the patient with no post-operative chemo-radiation. Case 2: A 70-year-old female presented with a left sided breast lump and a palpable axillary node. Needle core biopsy diagnosed it as malignant spindle cell tumor. The patient underwent MRM with axillary node dissection. It was confirmed to be a case of breast LMS with axillary nodal metastasis. Both patients were followed up for one year with no evidence of recurrence.Conclusion: Both cases underwent MRM with axillary node dissection in our study. However, the role of axillary dissection in the prognosis and disease-free survival of the patients with primary LMS of the breast with axillary metastasis has not been studied yet. The optimal management of this entity remains to be tumor excision with clear margins.

Hemi chorea hemiballism syndrome: the first presentation of type 2 diabetes mellitus as a rare cause of chorea

International Nuclear Information System (INIS)

Mittal, P.

2011-01-01

Hemi chorea-hemiballism syndrome, which is most commonly related to non-ketotic hyperglycemia, is a rare type of chorea. Here, we present an unusual case of Hemi chorea-hemiballism syndrome who was not a known case of diabetes. This case highlights the importance of recognising underlying non-ketotic hyperglycemia, as control of hyperglycemia is helpful in the quick relief of symptoms.

Acute Carbon Monoxide Poisoning Resulting in ST Elevation Myocardial Infarction: A Rare Case Report

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Po-Chao Hsu

2010-05-01

Full Text Available Acute carbon monoxide (CO poisoning with cardiac complications is well documented in the literature. However, ST segment elevation is a rare presentation, and most of these cases with ST elevation have revealed non-occlusive or normal coronary arteries. We report a case of CO poisoning complicated with ST elevation myocardial infarction. Emergency coronary angiography revealed total occlusion of the left anterior descending artery and primary percutaneous coronary intervention was performed. This report of a rare case should remind physicians that cardiovascular investigations, including electrocardiography, must be performed in cases with CO poisoning because mortality might increase if reperfusion therapy or appropriate medical treatments are not performed in patients with acute coronary artery occlusion.

Acute amebic appendicitis: Report of a rare case

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Singh Naorem

2010-10-01

Full Text Available Acute appendicitis of amebic origin is considered a rare cause of acute appendicitis. We report a case of amebic appendicitis presenting with fever, severe pain in the right lower quadrant of the abdomen and rebound tenderness. Lab investigations revealed neutrophilic leukocytosis. The patient underwent appendectomy. Histopathological examination revealed numerous Entameba histolytica trophozoites in the mucosa of the appendix. Acute appendicitis of amebic origin does not appear frequently. Appendicular amebiasis can give the clinical features of acute appendicitis and should be treated accordingly.

Synovial sarcoma of primary bone origin: a rare case in a rare site with atypical features

International Nuclear Information System (INIS)

Jung, Seung Chai; Choi, Jung-Ah; Lee, Joon Woo; Kang, Heung Sik; Chung, Jin-Haeng; Oh, Joo Han

2007-01-01

Synovial sarcoma of bone origin is extremely rare and difficult to diagnose. We present a case in which the lesion arose in the cortex of the distal tibia. It showed heterogeneous intermediate signal intensity on T1-weighted images and heterogeneous intermediate to low signal intensity on T2-weighted images with heterogeneous contrast enhancement on MRI. The lesion was confirmed as synovial sarcoma using a combination of histological and molecular genetic studies. (orig.)

A case report of gastric lymphocytic phlebitis, a rare mimic for malignancy

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Daniel L. Chan

Full Text Available Introduction: Lymphocytic phlebitis is a benign condition characterised by inflammation of the veins and rarely affects the gastrointestinal tract. Reported cases present as acute abdomen and involve the colon or small intestine. We report the fourth case of gastric lymphocytic phlebitis in the literature. Presentation of case: A 74-year-old female presented with eight weeks of abdominal pain. Findings at endoscopy were suggestive of a malignant ulcer on the greater curvature of antrum, while biopsies showed chronic gastritis without malignancy. Appearance at diagnostic laparoscopy was consistent with a malignant gastric ulcer with serosal changes. Due to persistent pain and the macroscopic appearance, she proceeded to have an open subtotal gastrectomy and D2 lymph node clearance. Despite macroscopic appearance, the microscopic examination demonstrated no malignancy, and was consistent with lymphocytic phlebitis with overlying ulceration. Discussion: This case was a mimic for gastric malignancy, with the benign diagnosis only being made after surgical resection. Gastric lymphocytic phlebitis is a rare differential diagnosis for gastric ulcers when biopsies are negative, although preoperative diagnosis is difficult given the lesions do not involve the mucosa. Conclusion: If clinical history and endoscopic findings are suspicious for malignancy, despite normal biopsies, an aggressive surgical resection remains reasonable given the rarity gastric lymphocytic phlebitis. Keywords: Lymphocytic phlebitis, Gastrectomy, Gastric vasculitis, Gastric ulcer, Case report

Pituitary metastasis of hepatocellular carcinoma presenting with panhypopituitarism: a case report

International Nuclear Information System (INIS)

Tanaka, Tomoko; Hiramatsu, Katsushi; Nosaka, Takuto; Saito, Yasushi; Naito, Tatsushi; Takahashi, Kazuto; Ofuji, Kazuya; Matsuda, Hidetaka; Ohtani, Masahiro; Nemoto, Tomoyuki; Suto, Hiroyuki; Yamamoto, Tatsuya; Kimura, Hirohiko; Nakamoto, Yasunari

2015-01-01

Metastasis to the pituitary gland is extremely rare and is often detected incidentally by symptoms associated with endocrine dysfunction. Breast and lung cancer are the most common primary metastasizing to pituitary gland. Metastasis from hepatocellular carcinoma to the pituitary gland is extremely rare, with only 10 cases having been previously reported. We present here the first case of pituitary metastasis of hepatocellular carcinoma presenting with panhypopituitarism diagnosed by magnetic resonance imaging. We report the case of an 80-year-old Japanese woman who presented with the sudden onset of hypotension and bradycardia after having previously been diagnosed with hepatocellular carcinoma. Based on low levels of pituitary hormones, she was diagnosed with panhypopituitarism caused by metastasis of the hepatocellular carcinoma to the pituitary gland. Magnetic resonance imaging with arterial spin-labeling was effective in the differential diagnosis of the intrasellar tumor. The patient died despite hormone replacement therapy because of hypovolemic shock. Metastasis to the pituitary gland causes various non-specific symptoms, so it is difficult to diagnose. The present case emphasizes the importance of diagnostic imaging in identifying these metastases. Clinicians should consider the possibility of pituitary metastasis in patients with malignant tumors who demonstrate hypopituitarism

Pituitary metastasis of hepatocellular carcinoma presenting with panhypopituitarism: a case report.

Science.gov (United States)

Tanaka, Tomoko; Hiramatsu, Katsushi; Nosaka, Takuto; Saito, Yasushi; Naito, Tatsushi; Takahashi, Kazuto; Ofuji, Kazuya; Matsuda, Hidetaka; Ohtani, Masahiro; Nemoto, Tomoyuki; Suto, Hiroyuki; Yamamoto, Tatsuya; Kimura, Hirohiko; Nakamoto, Yasunari

2015-11-06

Metastasis to the pituitary gland is extremely rare and is often detected incidentally by symptoms associated with endocrine dysfunction. Breast and lung cancer are the most common primary metastasizing to pituitary gland. Metastasis from hepatocellular carcinoma to the pituitary gland is extremely rare, with only 10 cases having been previously reported. We present here the first case of pituitary metastasis of hepatocellular carcinoma presenting with panhypopituitarism diagnosed by magnetic resonance imaging. We report the case of an 80-year-old Japanese woman who presented with the sudden onset of hypotension and bradycardia after having previously been diagnosed with hepatocellular carcinoma. Based on low levels of pituitary hormones, she was diagnosed with panhypopituitarism caused by metastasis of the hepatocellular carcinoma to the pituitary gland. Magnetic resonance imaging with arterial spin-labeling was effective in the differential diagnosis of the intrasellar tumor. The patient died despite hormone replacement therapy because of hypovolemic shock. Metastasis to the pituitary gland causes various non-specific symptoms, so it is difficult to diagnose. The present case emphasizes the importance of diagnostic imaging in identifying these metastases. Clinicians should consider the possibility of pituitary metastasis in patients with malignant tumors who demonstrate hypopituitarism.

A rare case of retained fourth molar teeth in maxilla and mandible. Case report

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Rahnama Mansur

2014-06-01

Full Text Available The study presents a case of the rarely occurring totally retained fourth molar teeth simultaneously in maxilla and mandible. The appearance of supernumerary teeth is a relatively uncommon dental anomaly and it is rare for patients to have impacted fourth molars in two quadrant. The aim of this work is to describe the presence of unilateral (right fourth molars in the maxilla and the mandible in a young female patient aged 24 years. Orthopantomogram revealed impacted lower third molars but also unerupted unilateral (right upper and lower fourth molars. Before orthodontic treatment, the patient was subsequently admitted for removal of third and fourth impacted upper and lower molars under local anesthesia.

Horizontal traumatic laceration of the pancreas head: A rare case report

OpenAIRE

Nanashima, Atsushi; Imamura, Naoya; Tsuchimochi, Yuki; Hamada, Takeomi; Yano, Kouichi; Hiyoshi, Masahide; Fujii, Yoshiro; Kawano, Fumiaki; MitsuruTamura,

2017-01-01

Introduction: This case report is intended to inform acute care surgeons about treating rare horizontal laceration of the pancreas head caused by blunt trauma. Case presentation: A 57-year-old woman who sustained blunt abdominal trauma during a car crash was transported to the emergency center of our hospital with unstable vital signs due to hemorrhagic shock. Computed tomography showed transection of the pancreas head and massive intra-abdominal hemorrhage. She was referred for emergency ...

Chylous ascites and lymphangiectasia in focal segmental glomerulosclerosis--a rare coexistence: a case report.

Science.gov (United States)

Lahiri, Durjoy; Agarwal, Rakesh; Roy, Manoj Kumar; Biswas, Amrita

2015-02-09

Nephrotic syndrome is considered a rare cause of chylous ascites. Intestinal lymphangiectasia in a background of chylous ascites and without any lymphatic obstruction has been reported in association with yellow nail syndrome, which is a rare clinical occurrence in itself. The existence of chylous ascites, duodenal and splenic lymphangiectasia (without any lymphatic obstruction) and nephrotic syndrome in the form of focal segmental glomerulosclerosis in the same patient makes this case the first of its kind to be reported in the literature. Here we report the case of a 54-year-old Asian man who presented with recurrent episodes of anasarca for approximately 25 years. He was subsequently found to have chylous ascites, lymphangiectasia and persistent proteinuria. A renal biopsy revealed focal segmental glomerulosclerosis, not otherwise specified. A lymphangiogram, which was performed with the purpose of addressing the intestinal lymphangiectasia, failed to demonstrate any abnormality of lymphatic channels. He was put on oral steroids with consequent remission of his oedema and proteinuria. This case highlights the fact that duodenal and splenic lymphangiectasia can exist in a scenario of chylous ascites without any obvious obstruction of lymphatic channels and in the absence of yellow nail syndrome. This case also signifies that chylous ascites may be a rare presenting feature of nephrotic syndrome and hence this aspect should be considered while in diagnostic dilemma regarding such a clinical presentation.

A Rare Presentation of Cyclitis Induced Myopia.

Science.gov (United States)

Ijaz, Umar; Habib, Asad; Rathore, Hassan Sajjad

2018-03-01

Unilateral cyclitis leading to myopia is a rare and clinical relevant entity. In clinical settings, pseudomyopia is generally encountered in the form of accommodative spasm, which is always bilateral. Cyclitis due to inflammation, on the other hand, can cause pseudomyopia unilaterally and it is a very rare presentation. A young male with acute anterior uveitis, presented with acute episode of unilateral myopia. When patient was examined on first visit, there were no cells in anterior chamber; so he was started on cycloplegic eye drops, but his condition didn't improve. Examination on subsequent visit revealed cellular reaction in anterior chamber and narrowing of anterior chamber angles on anterior segment optical coherence tomography (OCT). Treatment for uveitis was started and patient's visual acuity and refractive error improved. Pseudomyopia is a known complication of several drugs and certain medical conditions. The possible mechanism is supraciliary exudation causing relaxation of zonular fibers and increased convexity of the crystalline lens. Myopia in the setting of a mild cellular reaction can easily be missed and has not been reported yet to the best of authors' literature search.

A RARE CASE OF HUGE CERVICAL FIBROID

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Tushar Tatyaba Palve

2017-07-01

Full Text Available PRESENTATION OF CASE Leiomyomas are the most common tumor of uterus and the female pelvis. It is impossible to determine true incidence, all though frequently quoted incidence of 50% seems reasonable at post mortem examination1 . However only 1- 2% of it are confined to cervix. Cervical leiomyomata are mostly single and are subserous or interstitial in origin. Generally these tumours presents with retention of urine, constipation, sensation of something coming out of vagina, & rarely at times present with abdominal mass which may mimic ovarian cancer. 47 year old unmarried nulligravida with complaints of severe dysmenorrhagia since one year and lump in abdomen which has grown over period of one year. There was no bowel and bladder complaints, On physical examination pallor present, on abdominal examination 26-28 week firm solid mass arising from pelvis with restricted mobility was present, Clinically no ascites, patient was investigated on OPD basis.

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

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Bahram Pishgoo

2014-09-01

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

Hereditary hypohidrotic ectodermal dysplasia: report of a rare case.

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Paramkusam, Geetha; Meduri, Venkateswarlu; Nadendla, Lakshmi Kavitha; Shetty, Namratha

2013-09-01

Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers. It is characterised by congenital dysplasia of one or more ectodermal structures and it is manifested by hypohidrosis, hypotrichosis and hypodontia. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Here, we are presenting a rare case of HHED in a 19 year female with classic features of this condition.

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

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Ventham, N T; Hussien, M I

2010-08-06

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

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

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

2015-09-01

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

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

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Salemis, Nikolaos S

2011-01-01

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

Bilateral sertoli-leydig cell tumor of the ovary: A rare case report

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Alam Kiran; Maheshwari Veena; Rashid Seema; Bhargava Shruti

2009-01-01

Sertoli leydig cell tumors also known as arrhenoblastoma, are a rare member of the sex cord-stromal tumor group of ovarian and testicular cancers, comprising less than 1% of all ovarian tumors, which occur in young adults and are almost always unilateral. We hereby report a case of a 17-year-old female presenting with a short history of irregular menses and an abdominal lump, which was histologically proven to be a bilateral sertoli leydig cell tumor of the ovary, an exceptionally rare...

Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report.

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Razi, Syed Mohd; Gupta, Abhinav Kumar; Gupta, Deepak Chand; Gutch, Manish; Gupta, Keshav Kumar; Usman, Syeda Iqra

2016-04-19

Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae. We present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bilateral tendo-Achilles and infrapatellar tendons, along with history of bilateral cataract surgery 1 year earlier. The diagnosis was made on the basis of clinical, biochemical, imaging, and histopathological analysis and replacement therapy was started. The peculiarity of the present case is the absence of any neurological manifestations which are usually the early clues to the diagnosis of cerebrotendinous xanthomatosis. The present case report emphasizes the fact that early age bilateral cataracts along with bilateral tendo-Achilles xanthomas can be early pointers toward the diagnosis of cerebrotendinous xanthomatosis.

Bilateral olecranon bursitis – A rare clinical presentation of gout

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Betul Sargın

2018-04-01

Full Text Available Background: Gout is the most common form of crystal arthropathy. Monoarthritis affecting the first metatarsophalangeal joint is the common initial presentation. Bilateral olecranon bursitis is a rare presentation of gout. Aim of the work: To describe the clinical features of bilateral olecranon bursitis as an initial presentation of gout. Case report: A 62-year old male patient presented to the rheumatology clinic , Adnan Menderes University with sudden bilateral elbow pain and swelling for three months . Swellings gradually increased to the size of a golf ball with minimal restriction in the elbow extension (170°. He didn’t have arthritis in the elbows. The patient had medical history of heart failure and chronic obstructive pulmonary disease and medications received included acetylsalicylic acid and diuretics. Blood tests revealed elevated serum uric acid (12.6 mg/dL, with normal renal function tests, erythrocyte sedimentation rate (ESR 43 mm/h and C-reactive protein (CRP 8.8 mg/L. Rheumatoid factor and hepatitis markers were negative. Diagnostic bursal aspiration excluded septic bursitis and under polarized microscopy monosodium urate (MSU crystals were identified with typical negative birefringence. A diagnosis of gout was established. ESR and CRP were normalized after diclofenac potassium (100 mg and colchicine (1.5 mg. Allopurinol 300 mg was added when his joint pain was relieved. Conclusion: This is the first gout case initially presenting with bilateral olecranon bursitis. Bursal fluid analysis is important in such atypical presentation to look for MSU crystals and establish a diagnosis. Keywords: Olecranon bursitis, Gout, Crystal arthropathy, Monosodium urate

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

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Soheila Aminimoghaddam

2012-11-01

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

Glial heterotopia of the lip: A rare presentation.

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

2016-01-01

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

Glial heterotopia of the lip: A rare presentation

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Mehmet Dadaci

2016-01-01

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

A Rare Case of Neonatal Hypophosphatasia: A Case Report

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Nasim Pouralizadeh

2018-03-01

Full Text Available Hypophosphatasia is a rare hereditary disorder of bone metabolism.In this article, we presented the case of a male infant with a soft skull and short, deformed limbs at birth, followed by seizures and respiratory distress during admission in the neonatal intensive care unit (NICU. Prenatal ultrasound showed limb hypoplasia, skull hypomineralization, and polyhydramnios. Seizures occurred on day nine of admission. The neonate was intubated after pneumonia on day 12of birth and died due to the same cause and respiratory failure on day 14. Clinical presentation and low alkaline phosphatase (ALP confirmed the diagnosis of hypophosphatasia. The disorder covers a spectrum of severe neonatal type with severe hypomineralization to various adult types with osteomalacia and dental problems. Prenatal hypophosphatasia is diagnosed based on the clinical signs, including soft skull, short limbs, breathing difficulty, seizures, respiratory distress, laboratory results (low ALP and high pyridoxal 5-phosphate, and radiographic findings (hypomineralization and metaphyseal dysplasia.

Case report of a rare dermatosis in pregnancy: impetigo herpetiformis.

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Ulubay, Mustafa; Keskin, Uğur; Fidan, Ulas; Çiçek, Ali Fuat; Çalışkan, Ercan; Karaca, Rıza Efendi; Fıratlıgil, Fahri Burçin; Ergün, Ali

2015-02-01

Impetigo herpetiformis (IH) is a very rare type of dermatosis seen in pregnancy. According to the published work, IH during pregnancy is associated with the risk of stillbirth, and obstetric management in such cases is very important. Early recognition is important to reduce both maternal and fetal morbidity. We present a case of IH resistant to corticosteroid therapy in a 27-year-old pregnant woman where the pregnancy was terminated by the induction of labor. © 2014 The Authors. Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology.

Gastric Volvulus: A Rare Entity Case Report and Literature Review

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Akhtar, Aisha; Sheikh, Abdul Ahad E; Sheikh, Abu Baker; Perisetti, Abhilash

2018-01-01

Gastric volvulus is a rare entity defined as an abnormal rotation of the stomach around itself. It is a diagnosis of exclusion; the clinical index of suspicion is always low and is mostly diagnosed on imaging or on the surgery table. When it occurs, it is an emergency due to the risk of strangulation and consequent gangrene of the stomach. Mesentero-axial (MA) gastric volvuli constitute one-third of all cases. Here, we are present an interesting case of acute MA gastric volvulus diagnosed with imaging and treated subsequently. PMID:29755908

Adenoid cystic carcinoma of child: a rare case.

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Mathai, Meera; Sherubin, J Eugenia; Agnihotri, Pg; Sangeetha, Gs

2014-01-01

Adenoid cystic carcinoma (ACC) is the second most common malignant tumor affecting both major and minor salivary glands. Clinically, it is a slowly growing tumor with high propensity for local invasion, recurrence and distant metastasis. It is predominantly seen in the ffith and sixth decades of life. Here, we report a rare case of ACC affecting the right maxilla of a 12-year-old girl. How to cite this article: Mathai M, Sherubin JE, Agnihotri PG, Sangeetha GS. Adenoid Cystic Carcinoma of Child: A Rare Case. Int J Clin Pediatr Dent 2014;7(3):206-208.

Maxillo-Mandibular Cemento-ossifying Fibroma: A Rare Case Report.

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Peravali, Ranjit Kumar; Bhat, H Hari Kishore; Reddy, Sreenatha

2015-03-01

Cemento-ossifying fibroma (COF) is a benign fibro osseous lesion of the jaws which has been described as a demarcated or rarely encapsulated neoplasm consisting of fibrous tissue and varying amounts of mineralized material resembling bone and/or cementum (Dinkar et al. in IJDA 2(4):45-47, 2010). Majority of lesions occur in the mandible and only few cases of COFs of the maxillary sinus and bilateral COFs of the mandible have been reported in literature (Dinkar et al. in IJDA 2(4):45-47, 2010; Tamiolakis et al. in Acta Stomatol Croat 39(3):319-321, 2005; Hamner et al. in Oral Surg Oral Med Oral Pathol 26(4):579-587, 1968; Gunaseelan et al. in Oral Med Oral Pathol Oral Radiol Endod 104:e21-e25, 2007). These lesions have a very low recurrence rate (Ertug et al. in Quintessence Int 35(10):808-810, 2004) and are generally treated by enucleation. In this paper we present a rare case of COF occurring in both the maxilla and mandible of the same patient. Only one such case (Takeda and Fujioka in Int J Oral Maxillofac Surg 16(3):368-371, 1987) has been reported in literature so far.

Transverse Vaginal Septum With Secondary Infertility: A Rare Case.

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Rahman, Hafeez; Trehan, Nikita; Singh, Shuchita; Goyal, Meenakshi

2016-01-01

To demonstrate the technique of laparoscopic vaginal reconstruction in a rare case of mid-vaginal septum with secondary infertility. A step-by-step explanation of the technique using videos and pictures (Canadian Task Force classification IV). Transverse vaginal septum is a rare condition, with an incidence of only 1 in 30,000 women. It is usually a congenital mullerian fusion defect; few cases of acquired septum have been reported. Roughly 40% of cases occur in the mid-vagina. Transverse vaginal septum typically presents with primary amenorrhea and hematocolpos. The goal of surgery is to create a patent vagina with restoration of fertility. The laparoscopic approach has proven superiority over the open technique. Laproscopic vaginal reconstruction was performed in a 24 year female with transverse vaginal septum. Dissection was done laproscopically up to mid vagina. Incision was given on vagina excising the septum followed by reconstruction. The laparoscopic approach to vaginal reconstruction avoids the abdominal incision, with its associated pain and possible adhesion formation. It also provides a better view for dissection. In this patient, a patent vagina was created in a single operation, with no postoperative dyspareunia, and fertility was restored. Copyright © 2016 AAGL. Published by Elsevier Inc. All rights reserved.

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

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Rakshit Vijay Khandeparker

2018-01-01

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

Psychomotor delay, a possible rare presentation of moyamoya disease

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

2011-01-01

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

A case of multiple tuberculomas in brain presenting as hemiparesis

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Amit Gupta

2011-03-01

Full Text Available Tuberculosis of central nervous system can be present in many different clinical and radiological patterns with disseminated or miliary brain tuberculomas as a rare presentation. Multiple central nervous system tuberculoma is commonly associated with human immunodeficiency virus (HIV infection. Tuberculomas develop following haematogenous dissemination of bacilli from an infection elsewhere in the body, usually lung. Here we describe a case of immunocompetent host with a past history of pulmonary tuberculosis, presenting with headache and generalised weakness, and later was diagnosed as a case of multiple tuberculoma brain.

Rare Case of a Chondrosarcoma of the Mandible in a Child

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Hendryk Vieweg

2013-01-01

Full Text Available Chondrosarcoma of the mandible is rare, especially in children. The available literature consists mostly of a few case reports which are partly integrated in small studies. Growing this small pool of literature is helpful in solidifying knowledge about this disease and facilitating appropriate treatment for children. Therefore, we present such a case in a 12-year-old boy, exhibit comprehensive and relevant information concerning this entity, and discuss our findings in the context of other publications.

A rare case of acquired methemoglobinemia associated with alkaptonuria.

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Isa, Yasuki; Nihei, Shun-ichi; Irifukuhama, Yuna; Ikeda, Tomoya; Matsumoto, Hiroyuki; Nagata, Keiji; Harayama, Nobuya; Aibara, Keiji; Kamochi, Masayuki

2014-01-01

We herein present a rare case of acquired methemoglobinemia associated with alkaptonuria. Alkaptonuria is a congenital error of metabolism caused by the deficiency of homogentisic acid oxidase, which subsequently results in the accumulation of homogentisic acid (HGA) in body tissues. As renal dysfunction progresses, the level of HGA excretion in the urine decreases and the blood concentration of HGA increases. HGA oxidizes oxyhemoglobin to methemoglobin, which can induce multiple organ failure accompanied by tissue hypoxia, intravascular hemolysis and metabolic acidosis. The mortality of this disease is high when alkaptonuria is associated with the presence of methemoglobinemia; therefore, treatment should be carefully planned in such cases.

A rare case of neuroleptic malignant syndrome presenting with serious hyperthermia treated with a non-invasive cooling device: a case report

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Storm Christian

2009-02-01

Full Text Available Abstract Introduction A rare side effect of antipsychotic medication is neuroleptic malignant syndrome, mainly characterized by hyperthermia, altered mental state, haemodynamic dysregulation, elevated serum creatine kinase and rigor. There may be multi-organ dysfunction including renal and hepatic failure as well as serious rhabdomyolysis, acute respiratory distress syndrome and disseminated intravascular coagulation. The prevalence of neuroleptic malignant syndrome is between 0.02% and 2.44% for patients taking neuroleptics and it is not necessary to fulfil all cardinal features characterizing the syndrome to be diagnosed with neuroleptic malignant syndrome. Because of other different life-threatening diseases matching the various clinical findings, the correct diagnosis can sometimes be hard to make. A special problem of intensive care treatment is the management of severe hyperthermia. Lowering of body temperature, however, may be a major clinical problem because hyperthermia in neuroleptic malignant syndrome is typically unresponsive to antipyretic agents while manual cooling proves difficult due to peripheral vasoconstriction. Case presentation A 22-year-old Caucasian man was admitted unconscious with a body temperature of 42°C, elevated serum creatine phosphokinase, tachycardia and hypotonic blood pressure. In addition to intensive care standard therapy for coma and shock, a non-invasive cooling device (Arctic Sun 2000®, Medivance Inc., USA, originally designed to induce mild therapeutic hypothermia in patients after cardiopulmonary resuscitation, was used to lower body temperature. After successful treatment it became possible to obtain information from the patient about his recent ambulant treatment with Olanzapin (Zyprexa® for schizophrenia. Conclusion Numerous case reports have been published about patients who developed neuroleptic malignant syndrome due to Olanzapin (Zyprexa® medication. Frequently hyperthermia has been observed

Intraosseous adenoid cystic carcinoma of maxilla: A rare case report

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Prasannasrinivas Suresh Deshpande

2013-01-01

Full Text Available Adenoid cystic carcinoma (ACC accounts for approximately 6-10% of all salivary gland tumors. Palatal minor salivary glands, parotid, and sub-mandibular glands are usually affected. Rarely, these lesions arising intraosseously have been reported. Mandible is commonly involved than maxilla. The present case is a giant ACC involving the right maxilla. A thorough clinical and radiographic evaluation was performed to assess the involvement of surrounding vital structures along with a meticulous metastatic work-up. Computed tomography showed a giant lesion in maxilla encroaching the left nasal fossa, antrum, buccal space, and oral cavity. No metastasis was noted. Histological evaluation from multiple sites showed both cribriform and solid patterns. Radiotherapy was given as patient did not comply for surgery. Though central ACC is extremely rare, especially in maxilla, it should be included in the differentials for lesions in maxilla. A prompt diagnosis with treatment and long-term follow-up is advised in such cases.

A rare presentation of an ectopic breast tissue in axilla

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Radhika Vidyasagar

2015-10-01

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

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

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Sudheer Ambekar

2013-01-01

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

Retroperitoneal necrotizing fasciitis presenting with peritonism in a 33-year-old Nepalese man: a case report

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Giri Smith

2012-02-01

Full Text Available Abstract Introduction Retroperitoneal necrotizing fasciitis is a rare, fulminant, and potentially lethal complication of intra-abdominal suppuration. A retroperitoneal origin is very rare and very few cases have been reported in the literature. To the best of our knowledge, this case is only the fourth case reported of successful management following retroperitoneal necrotizing fasciitis. Case presentation A 33-year-old Tamang man presented to our facility with a history of five days of fever and vomiting and eight days of severe left loin pain. On examination, he had features of peritonism. A laparotomy was performed, revealing extensive necrotizing fasciitis of the retroperitoneum extending to the anterior abdominal wall. Our patient survived following extensive debridement of the necrotic tissues and supportive care. Conclusions Retroperitoneal necrotizing fasciitis can rarely present with features of peritonism, and hence should be included as a possible differential diagnosis for anyone presenting with peritonism. Although a fatal condition, early intervention and aggressive management can save the life of a patient.

A rare case of bleeding disorder: Glanzmann's thrombasthenia.

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Swathi, Jami; Gowrishankar, A; Jayakumar, S A; Jain, Karun

2017-01-01

Glanzmann's thrombasthenia (GT) is a rare bleeding disorder, which is characterized by a lack of platelet aggregation. It is characterized by qualitative or quantitative abnormalities of the platelet membrane glycoprotein IIb/IIIa. Physiologically, this platelet receptor normally binds several adhesive plasma proteins, and this facilitates attachment and aggregation of platelets to ensure thrombus formation at sites of vascular injury. The lack of resultant platelet aggregation in GT leads to mucocutaneous bleeding whose manifestation may be clinically variable, ranging from easy bruising to severe and potentially life-threatening hemorrhages. To highlight this rare but potentially life-threating disorder, GT. We report a case of GT that was first detected because of the multiple episodes of gum bleeding. The patient was an 18-year-old girl who presented with a history of repeated episodes of gum bleeding since childhood. Till the first visit to our hospital, she had not been diagnosed with GT despite a history of bleeding tendency, notably purpura in areas of easy bruising, gum bleeding, and prolonged bleeding time after abrasions and insect stings. GT was diagnosed on the basis of prolonged bleeding time, lack of platelet aggregation with adenosine di phosphate, epinephrine and collagen. GT should always be considered as differential diagnosis while evaluating any case of bleeding disorder.

Submucosal lipoma of the sigmoid colon as a rare cause of mucoid diarrhea: a case report.

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Dassanayake, S U B; Dinamithra, N P; Nawarathne, N M M

2016-01-20

Symptomatic presentations of colonic lipomas are very rare in clinical practice, and may mimic colonic malignancy. The likelihood of presenting symptoms has been shown to depend on the size of the lesion. We describe the case of a 72-year-old Sinhalese man presenting with worsening mucoid diarrhea who was subsequently diagnosed to have a lipoma of the sigmoid colon. His disease was successfully managed with endoscopic resection. Confidently establishing the rare diagnosis of a colonic lipoma usually requires a combination of endoscopic, radiological, and histological evaluation, and is therefore very challenging. With the advancement of endoscopic procedures, endoscopic resection is widely practiced as the definitive management of these cases.

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

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

2015-01-01

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

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

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Al-Otaibi Faisal

2012-05-01

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

Acute Abdomen: A Rare Presentation of Lung Cancer Metastasis

OpenAIRE

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

2009-01-01

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

Hydatid disease of the spine: A rare case

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Mona Agnihotri

2017-01-01

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

Waardenburg syndrome: A rare case

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Shivlal M Rawlani

2018-01-01

Full Text Available Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilateral heterochromia that manifests as lighter pigmentation of one iris is associated with Waardenburg syndrome and Parry-Romberg syndrome and less commonly with Hirschsprung disease. A case of ten yrs. old boy with a typical facial profile and hearing loss is reported.

A Rare Case of Gestational Gigantomastia with Hypercalcemia: The Challenges of Management and Follow up

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Moazzami, Bahram; Chaichian, Shahla; Farahvash, Mohammad Reza; Taheri, Saeedeh; Ahmadi, Seyed Ali; Mokhtari, Majid; Sheibani, Kourosh

2016-01-01

Background: Gigantomastia is a breast disorder marked by exaggerated rapid growth of the breasts, generally bilaterally. Since this disorder is very rare and has been reported only in sparse case reports its etiology has yet to be fully established. Treatment is aimed at improving the clinical and psychological symptoms and reducing the treatment side effects; however, the best therapeutic option varies from case to case. Case Presentation: The present report described a case of gestational gigantomastia in a 30-year-old woman, gravida 2, parity 1, 17 week pregnant admitted to Pars Hospital, Tehran, Iran, on May 2014. The patient was admitted to hospital at week 17 of pregnancy, although her breasts initially had begun to enlarge from the first trimester. The patient developed hypercalcemia in her 32nd week of pregnancy. The present report followed this patient from diagnosis until the completion of treatment. Conclusion: Although gestational gigantomastia is a rare condition, its timely prognosis and careful examination of some conditions like hyperprolactinemia and hypercalcemia is essential in successful management of this condition. PMID:27921004

Extra-skeletal Ewing's sarcoma in adults: presentation of two cases.

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Lipski, Samuel M; Cermak, Katia; Shumelinsky, Felix; Gil, Thierry; Gebhart, Michael J

2010-12-01

Extraosseous Ewing's sarcoma represents about 5% of the Ewing family of tumours. Two cases in adult patients are presented, emphasizing the complexity of a multi-modality treatment approach of this tumour. Clinical presentation, chemotherapeutical, surgical and radiotherapeutical approaches are discussed. A thorough literature search was done to correlate our therapeutic attitude with current knowledge of this very rare disease.

Rare case of primary spinal ependymomatosis occurring in a 26-year-old man: a case report

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Kaliaperumal Chandrasekaran

2009-10-01

Full Text Available Abstract Introduction The authors report a rare case of primary spinal ependymomatosis in a young adult man. Multiple primary ependymomatous lesions were seen on magnetic resonance imaging and no anaplasia was identified on the surgical-pathological analysis. The aetio-pathological mechanism and surgical significance of this rare occurrence is discussed. Case presentation A 26-year-old man of Polish origin presented with a ten-day history of pain in the left leg and lower back. This was followed by difficulty in urinating and a decrease in sensation in both legs. Examination revealed pyramidal signs and mild weakness in both lower limbs. He had early sphincter involvement requiring catheterization. Magnetic resonance imaging of the brain was normal. However, that of the spinal cord revealed multiple intradural spinal lesions, both intra- and extramedullary, extending from the cervical cord down to the cauda equina roots. T12-L1 laminectomy was performed. Multiple intradural, extra- and intra-medullary tumors were seen. After the operation, the patient deteriorated with a sensory level at T4. Post-operative cranio-spinal radiotherapy was administered but there was no clinical improvement in the lower limbs. Conclusion Primary spinal ependymomatosis is a rare phenomenon involving multiple spinal segments in the absence of a primary intracranial tumor. Radical excision is unrealistic in this condition. Biopsy followed by radiotherapy is the preferred method of treatment.

Orthokeratinized odontogenic cyst: A rare presentation

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Neha Bhasin

2014-01-01

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

Hypokalaemic Periodic Paralysis in a Patient with Subclinical Hyperthyroidism: A Rare Case

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Hegde, Swati; Shaikh, Mohammed Aslam; Gummadi, Thejaswi

2016-01-01

Thyrotoxic Periodic Paralysis (TPP) is an uncommon disorder. Though many cases of hypokalaemic periodic paralysis are reported in overt hyperthyroidism, hypokalaemic paralysis in subclinical hyperthyroidism is very rare. Subclinical hyperthyroidism is characterised by circulating TSH levels below reference range and normal thyroid hormone levels. We describe a case of 32-year-old Asian male who presented to the emergency department with acute onset weakness and hypokalaemia with no previous h...

A rare case of short stature: Say Meyer syndrome

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T S Karthik

2013-01-01

Full Text Available Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Conclusion: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

Thyrotoxicosis presenting as hypogonadism: a case of central hyperthyroidism.

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Childress, R Dale; Qureshi, M Nauman; Kasparova, Meri; Oktaei, Hooman; Williams-Cleaves, Beverly; Solomon, Solomon S

2004-11-01

Herein, we present a case of central thyrotoxicosis with well-documented serial therapeutic interventions. Thyroid-stimulating hormone (TSH)-secreting pituitary tumors represent a rare cause of hyperthyroidism. It is being diagnosed more frequently with the third-generation TSH assay. Many conditions can produce normal or elevated TSH levels in combination with elevated thyroid hormone levels. The differential diagnosis includes resistance to thyroid hormone (RTH, Refetoff's syndrome), assay interference from anti-T4/T3 and heterophile antibodies, elevated or altered binding proteins, drugs affecting peripheral metabolism, and noncompliance with thyroid replacement therapy. In contrast to RTH, our patient presented had high alpha-subunit-to-TSH molar ratio, failed TSH response to thyrotropin-releasing hormone stimulation, and a large pituitary mass. Normal or high TSH in the presence of elevated T4 or T3 is a fairly common clinical scenario with many etiologic possibilities. This TSH-producing adenoma represents an unusual initial clinical presentation, as hypogonadism appeared before features of thyrotoxicosis were appreciated. This case represents the most modern therapeutic approach to the management of this rare disease. Our patient has done well on octreotide with control of thyrotoxicosis and an additional 30% shrinkage of his tumor mass.

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

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Priya Rao

2014-12-01

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

Bilateral sertoli-leydig cell tumor of the ovary: A rare case report

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Alam Kiran

2009-01-01

Full Text Available Sertoli leydig cell tumors also known as arrhenoblastoma, are a rare member of the sex cord-stromal tumor group of ovarian and testicular cancers, comprising less than 1% of all ovarian tumors, which occur in young adults and are almost always unilateral. We hereby report a case of a 17-year-old female presenting with a short history of irregular menses and an abdominal lump, which was histologically proven to be a bilateral sertoli leydig cell tumor of the ovary, an exceptionally rare entity in itself.

PRIMARY MULTILOCULAR HYDATID CYST OF NECK : A RARE CASE REPORT

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Deepak Ramraj

2015-02-01

Full Text Available Hydatid disease, also known as echinococcosis or hydatidosis , is an infectious disease caused by Echinococcus. Echinococcus granulosus is the most common Echinococcus species affecting human beings. It may affect any organ and tissue in the body, in particular the liver and lung. Musculoskeletal or soft tissue hyda tidosis accounts for about 0.5% 5% of all echinococcal infections in endemic areas, and is almost always secondary to the hepatic or pulmonary disease. Even in regions where echinococcosis is endemic, hydatidosis of cervicofacial region is extremely rare. Herein, we present exceptionally rare case in a 55 year old female with an unusual localization of primary multilocular hydatid cyst in the right supraclavicular region of the neck. A high index of suspicion is required to diagnose hydatid cyst in rare loc ations like this. Hydatid cyst should be considered in differential diagnosis of benign swellings of head and neck region, so that it can be managed during surgery to prevent acute anaphylaxis

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

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Roxana Jurubita

2016-01-01

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

Prepontine Schwannoma Presenting With Atypical Facial Symptoms - A Case Report

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Rishi Kumar Bali

2005-01-01

Full Text Available Face is an important landmark and any pathological condition affecting it has tremendous bearing on psychological make up of the patient. This report describes a rare case of a young female who presented with Hemifacial dysaesthesia complicated by ipsilateral masticatory complex dyskinesia.

Colloidon baby – Rare case with preventable complications

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Janardhan Bommakanti

2015-01-01

Full Text Available Colloidon baby is a rare congenital disorder characterized clinical-ly by parchment like taught membrane covering the whole body at the time of birth, which subsequently develops Non bullous ichthyosiform erythroderma or Lamellar ichthyiosis in most cases and in few cases other ichthyosiform disorders. The colloidon membrane spontaneously desquamates within 2 weeks or up to 3 months in few cases. Herein, we present 2 cases of colloidon babies born to consanguineously married couples of which the first baby was born at term by normal vaginal delivery and second baby born prematurely by caesarean section. Both 1st & 2nd baby were delivered in different private hospitals in villages of Nizamabad district, Telangana state and reported to tertiary level children’s hospital in Hyderabad city on 4nd and 6th day of life respectively with complaints of colloidon membrane and macera-tion of skin in diaper area, was admitted in Neonatal intensive care unit (NICU in humidified incubator, treated with emollients, intra-venous fluids and prophylactic antibiotics to avoid complications. Nursing care is of prime importance. This presentation was aimed at stressing not only the importance of early recognition by pedia-trician & timely referral to dermatologist and ophthalmologist for saving life of affected baby but also equal importance to proper nursing care.

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

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Salhi, Houda

2016-01-01

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

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

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Hsing-Lin Lin

2008-06-01

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

Cutaneous collagenous vasculopathy: A rare case report

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Kinjal Deepak Rambhia

2016-01-01

Full Text Available Cutaneous collagenous vasculopathy (CCV is a distinct, rare, and underdiagnosed condition. We report a case of CCV in a 50-year-old woman presenting as asymptomatic, erythematous to hyperpigmented nonblanchable macules over both the lower extremities. The clinical differential diagnosis of the lesions was pigmented purpuric dermatoses (Schamberg's purpura and cutaneous small vessel vasculitis. Histology of the lesions revealed dilated superficial dermal vessels with abundant pink hyaline material in the vessel wall, which stained with periodic acid Schiff stain. The patient was diagnosed as CCV. This condition remains largely underdiagnosed and is commonly mistaken for pigmented purpuric dermatosis or generalized essential telangiectasia. Emphasis on the differentiation of CCV from its clinical and histological mimicks is made.

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

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P S Priyamvada

2015-01-01

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

Trigger finger presenting secondary to leiomyoma: a case report

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Harb Ziad

2009-05-01

Full Text Available Abstract Introduction We present a previously undescribed entity: trigger finger secondary to a leiomyoma. This is the first time such a case has been reported and highlights the fact that common conditions can sometimes present secondary to rare diseases. Case presentation A 39-year-old Caucasian man presented with a fairly typical presentation of trigger finger. During surgical treatment, the lesion was excised and sent for histology, which showed tissue consistent with a leiomyoma. The patient made an uneventful recovery. Conclusion Trigger finger is a common condition that is usually easily diagnosed and managed. However, it is important to appreciate that uncommon conditions, such as leiomyoma, can present with what is sometimes considered trivial disease, and one should always consider the differential diagnoses even when faced with relatively benign conditions.

Ectodermal dysplasia-skin fragility syndrome: A rare case report

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Subhash Kashyap

2015-01-01

Full Text Available Ectodermal dysplasia/skin fragility syndrome (ED-SFS is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating. It results from mutations in the PKP1 gene encoding plakophilin 1 (PKP1, which is an important component of stratifying epithelial desmosomes and a nuclear component of many cell types. Only 12 cases of this rare genodermatosis have been reported so far. We present an unusual case of ED-SFS in a 12-year boy who was normal at birth but subsequently developed skin fragility, hair and nail deformities, abnormal dentition, palmoplantar keratoderma, and abnormal sweating but no systemic abnormality.

Ultrasound and MR-imaging in preoperative evaluation of two rare cases of scar endometriosis

OpenAIRE

Pados, George; Tympanidis, John; Zafrakas, Menelaos; Athanatos, Dimitrios; Bontis, John N

2008-01-01

Scar or incisional endometriosis is a rare, often misdiagnosed, pathologic condition of the abdominal wall. Two cases of incisional endometriosis are presented. Both patients presented with atypical cyclic pain and palpable nodules on scars of previous cesarean sections. In both cases, the mass was totally excised, after accurate preoperative evaluation with 2-D ultrasound, power Doppler and MRI. Microscopic examination confirmed the preoperatively presumed diagnosis of cutaneous endometriosi...

Guillain Barre Syndrome Following Traumatic Brain Injury: A Rare Case

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Kirac Unal

2016-06-01

Full Text Available Introduction Guillain-Barre syndrome (GBS is an immune-mediated acute inflammatory disorder of the peripheral nervous system. Infectious agents were usually accused of playing a role in the etiology of GBS. Guillain-Barre syndrome has rarely been reported following subdural and subarachnoid hemorrhage after head trauma. Case Presentation We report on a 63-year-old male patient presenting GBS following Traumatic Brain Injury (TBI. Only five other similar cases are described in the literature. Conclusions Sudden onset of GBS symptoms following trauma may erroneously be assessed as secondary complications of the TBI and can lead to unnecessary procedures such as computerized tomography (CT scan and magnetic resonance imaging (MRI for a definitive diagnosis and may be a waste of time.

Atypical presentation of HELLP syndrome: clinical case report

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Juan Manuel Tobar Parra

2017-12-01

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

Facial Localization of Malignant Chondroid Syringoma: A Rare Case Report

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Deniz Tural

2013-01-01

Full Text Available First described by Hirsch and Helwig in 1961, chondroid syringomas (CSs are rare, benign tumors of the skin arising from the eccrine sweat glands with tumor differentiation in the epithelial and mesenchymal tissues. They most commonly occur in the head and neck, although they may be also found in the axilla, trunk, limbs, and genitalia. The incidence of CS is <0.01% of all primary skin tumors. Malingnant chondroid syringomas (MCS, which are also called malignant mixed tumors of the skin, are extremely uncommon. MCSs commonly involve the limbs and rarely head and neck. In this article, we present a case of malignant chondroid syringoma localized in the face at the left nasolabial region in the light of literature review.

Sarcomatoid carcinoma of kidney, presenting with leucocytosis as paraneoplastic syndrome: A case report and short review

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Joydeep Ghosh

2017-01-01

Full Text Available Renal cell carcinoma is the ninth most common malignancy. The commonest histopathological type is clear cell carcinoma. The occurrence of sarcomatoid carcinoma is very rare and confers a very poor prognosis. Only 10-20% patients present with paraneoplastic syndromes. Out of the common paraneoplastic syndromes, leucocytosis is one of the least reported. Here, we present a case of sarcomatoid carcinoma of kidney who presented with low-grade fever and leucocytosis, followed by a short review of literature. This is one of the rare situations where a rare histologic variant presents with a rare finding.

Co-occurrence of intraoral hemangioma and port wine stain: A rare case

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Prasanna Kumar Rao

2012-01-01

Full Text Available Hemangiomas are neoplastic proliferations of endothelial cells, characterized by a period of growth after birth, and eventual spontaneous involution. The course can be uneventful with spontaneous resolution; or it may be marked by complications such as infection, bleeding, ulceration, visual defects and feeding difficulties. Apart from these, rare life-threatening complications such as congestive heart failure and consumption coagulopathy may also be seen. Although hemangiomas commonly occur in the head and neck region, intraoral occurrence is relatively rare. A port wine stain is defined as a macular telangiectatic patch which is present at birth and remains throughout life. They may be localized or extensive, affecting a whole limb. This article reports a rare case of co-occurrence of port wine stain with intraoral hemangioma.

Intramedullary spinal cord metastasis from colonic carcinoma presenting as Brown-Sequard syndrome: a case report

LENUS (Irish Health Repository)

Kaballo, Mohammed A

2011-08-02

Abstract Introduction Intramedullary spinal cord metastasis is very rare. The majority are discovered incidentally during autopsy. Most symptomatic patients present with rapidly progressive neurological deficits and require immediate examination. Few patients demonstrate features of Brown-Séquard syndrome. Radiotherapy is the gold-standard of therapy for Intramedullary spinal cord metastasis. The overall prognosis is poor and the mortality rate is very high. We present what is, to the best of our knowledge, the first case of Intramedullary spinal cord metastasis of colorectal carcinoma presenting as Brown-Séquard syndrome. Case presentation We present the case of a 71-year-old Caucasian man with colonic adenocarcinoma who developed Intramedullary spinal cord metastasis and showed features of Brown-Séquard syndrome, which is an uncommon presentation of Intramedullary spinal cord metastasis. Conclusion This patient had an Intramedullary spinal cord metastasis, a rare form of metastatic disease, secondary to colonic carcinoma. The metastasis manifested clinically as Brown-Séquard syndrome, itself a very uncommon condition. This syndrome is rarely caused by intramedullary tumors. This unique case has particular interest in medicine, especially for the specialties of medical, surgical and radiation oncology. We hope that it will add more information to the literature about these entities.

Rapidly Growing Chondroid Syringoma of the External Auditory Canal: Report of a Rare Case

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Vasileiadis, Ioannis; Kapetanakis, Stylianos; Petousis, Aristotelis; Karakostas, Euthimios; Simantirakis, Christos

2011-01-01

Introduction. Chondroid syrinoma of the external auditory canal is an extremely rare benign neoplasm representing the cutaneous counterpart of pleomorphic adenoma of salivary glands. Less than 35 cases have been reported in the international literature. Case Presentation. We report a case of a 34-year-old male in whom a rapidly growing, well-circumscribed tumor arising from the external auditory canal was presented. Otoscopy revealed a smooth, nontender lesion covered by normal skin that almost obstructs the external auditory meatus. MRI was performed to define the extension of the lesion. It confirmed the presence of a 1.5 × 0.8 cm T2 high-signal intensity lesion in the superior and posterior wall of EAC without signs of bone erosion. The patient underwent complete resection of the tumor. The diagnosis was confirmed by histopathologic examination. Conclusion. Although chondroid syringoma is extremely rare, it should always be considered in the differential diagnosis of an aural polyp. Chondroid syringomas are usually asymptomatic, slow-growing, single benign tumors in subcutaneous or intradermal location. In our case, the new information is that this benign tumor could present also as a rapidly growing lesion, arising the suspicion for malignancy. PMID:21941560

Rapidly Growing Chondroid Syringoma of the External Auditory Canal: Report of a Rare Case

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Ioannis Vasileiadis

2011-01-01

Full Text Available Introduction. Chondroid syrinoma of the external auditory canal is an extremely rare benign neoplasm representing the cutaneous counterpart of pleomorphic adenoma of salivary glands. Less than 35 cases have been reported in the international literature. Case Presentation. We report a case of a 34-year-old male in whom a rapidly growing, well-circumscribed tumor arising from the external auditory canal was presented. Otoscopy revealed a smooth, nontender lesion covered by normal skin that almost obstructs the external auditory meatus. MRI was performed to define the extension of the lesion. It confirmed the presence of a 1.5×0.8 cm T2 high-signal intensity lesion in the superior and posterior wall of EAC without signs of bone erosion. The patient underwent complete resection of the tumor. The diagnosis was confirmed by histopathologic examination. Conclusion. Although chondroid syringoma is extremely rare, it should always be considered in the differential diagnosis of an aural polyp. Chondroid syringomas are usually asymptomatic, slow-growing, single benign tumors in subcutaneous or intradermal location. In our case, the new information is that this benign tumor could present also as a rapidly growing lesion, arising the suspicion for malignancy.

Cervical Cancer as a silent killer: A rare case report with review of literature

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Deeksha Pandey

2015-01-01

Full Text Available Advanced-stage cervical cancer almost always presents either with abnormal vaginal bleeding or with foul-smelling vaginal discharge. We present here a rare case, where a postmenopausal lady presented almost silently with stage IVA cervical cancer. Fortunately, timely referral, correct diagnosis, and multispecialty team work could save her life.

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

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Ayse Filiz Avsar

2016-01-01

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

A Rare Seen Case Report: Sirenomelia

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Nilay Piskinpasa

2016-01-01

Full Text Available Sirenomelia is a rare congenital anomaly characterized by abnormal development of the caudal body structures.The disease can be diagnosed antenatally by the careful ultrasound examination. In this paper we aimed to discuss a case which had one lower extremity,spinal angulations and anhydramnios image detected by ultrasound examination.We diagnosed sirenomelia after termination.

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

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Satya Ranjan Misra

2015-01-01

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

Mycotic aneurysm of the posterior tibial artery – a rare complication of bacterial endocarditis: a case report

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Patel S

2008-11-01

Full Text Available Abstract Introduction Distal arterial embolisation and subsequent aneurysm formation are rare occurrences and most are secondary to trauma. We have found no case reports that describe posterior tibial aneurysm formation secondary to bacterial endocarditis. Case presentation We report the case of a 47-year-old Caucasian man who, 2 years after an episode of subacute bacterial endocarditis, presented with signs and symptoms consistent with posterior tibial aneurysm formation. Conclusion Posterior tibial aneurysm formation is a rare occurrence, most commonly occurring after trauma and, although other causes have been described, to our knowledge, endocarditis has not been implicated before, and as such should therefore be borne in mind when dealing with cases where no obvious aetiology is evident.

Pulmonary lymphangioleiomyomatosis presenting as spontaneous pneumothorax treated with sirolimus - A case report

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Verma, Ajay Kumar; Joshi, Ambarish; Mishra, Amritesh Ranjan; Kant, Surya; Singh, Arpita

2018-01-01

Spontaneous pneumothorax is a very common medical emergency. Patients are often treated without treating the underlying cause. Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease. Until recently, diagnosis of LAM was a challenge with nearly 100% mortality in 10 years, but better understanding of the disease through research and better radiological techniques and newer drugs such as sirolimus has improved the survival in such patients. We are presenting a rare case of LAM presenting as a secondary spontaneous pneumothorax treated with sirolimus. PMID:29487252

A case of late-onset allgrove syndrome presenting with predominant autonomic dysfunction

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Debmalya Sanyal

2013-01-01

Full Text Available Allgrove Syndrome or triple A syndrome is a rare familial multisystem disorder characterized by achalasia, alacrima and adrenal insufficiency. The objective was to describe a case of 4A syndrome where autonomic dysfunction was the presenting feature. A 22-year-old male presented with erectile dysfunction and loss of spontaneous morning erections for six months. He was having nocturnal diarrhea and recurrent postural dizziness for three months. He was found to have hyperpigmentation at pressure points, postural hypotension and other features of autonomic dysfunction. Laboratory investigations and imaging studies revealed hypoadrenalism, achalasia, alacrima and peripheral neuropathy. Autonomic neuropathy-related features persisted even after correction of hypoadrenalism. Based on clinical features and investigation he was diagnosed as a case of 4A syndrome presenting with autonomic dysfunction. Allgrove or 4A syndrome should be considered as a rare differential diagnosis of someone presenting with features of autonomic neuropathy.

A rare case of primary amenorrhea

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Himadri Bal

2016-01-01

Full Text Available Crytomenorrhea arises usually due to the imperforate hymen, sometimes due to vaginal septum, rarely due to cervical agenesis. Here, we present a case of primary amenorrhea resulting from cervical agenesis in a 38-year-old woman. She presented with primary amenorrhea and cyclic lower abdominal pain. She had undergone some surgery 5 years back, details of which were not available. On examination secondary sexual characters were normal, per abdomen there was an 18 weeks size firm abdominopelvic mass. Local vaginal examination showed a blind vaginal pouch. A clinical diagnosis of hematometra due to transverse vaginal septum was made. However, magnetic resonance imaging pelvis suggested hematometra with cervical stenosis. The patient was taken up for examination under anaesthesia (EUA and exploratory laparotomy. On opening the abdomen uterus found to be enlarged with dense adhesions all around and signs of endometriosis. Extensive adhesiolysis revealed bilateral chocolate cysts of ovaries with hematosalpinges and peritubal adhesions. Hysterotomy and drainage of tarry contents were followed by an exploration of the uterine cavity. The lower pole ended blindly with no evidence of any cervix. Peroperative diagnosis of cervical agenesis leading to hematometra and endometriosis was made. A subtotal hysterectomy with bilateral salpingo-oophorectomy was done. Histopathological examination confirmed ovarian endometriosis and adenomyosis of uterus. Though reconstructive surgery for cervical dysgenesis has been successful in some cases, hysterectomy is generally recommended for cervical agenesis.

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

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Shashi Singhvi

2014-06-01

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

Mononucleosis-like drug rash: An interesting case presentation

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Reshma T Vishnani

2014-01-01

Full Text Available Dapsone hypersensitivity syndrome (DHS is a rare adverse effect of the commonly prescribed drug dapsone. We present a case of a 35-year-old male who was referred to us from the gastroenterologist with complaints of rash, nausea, vomiting, and jaundice since 2 days with a provisional differential diagnosis of infectious mononucleosis or viral exanthema. On enquiry patient gave history of taking dapsone a week prior for refractory urticaria. After thorough investigations we diagnosed him with DHS. This syndrome occurs in a relatively small proportion of patients, but it is associated with considerable morbidity and mortality. The reason for presenting this case is to remind physicians of the unpredictability and potential severity of this reaction which makes it a major concern in clinical practice.

Juvenile Idiopathic Arthritis Onset in a Neonate: A Rare Case Report

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Abdolreza Malek

2017-06-01

Full Text Available Background: A common type of chronic arthritis in children and adolescents is juvenile idiopathic arthritis (JIA.According to the International League of Associations for Rheumatology (ILAR classification, JIA diagnostic criteria include age under 16 years and disease duration of six-weeks. Based on the number of involved joints in the first sixmonths of disease onset, JIA is categorized into oligoarticular or polyarticular subtypes. Age is a characteristic factor in the diagnosis of disease subsets; it is worth mentioning that cases younger than six months of age are seldom found in any of the subtypes. Case report: In this report, we present a rare case of JIA in an infant, presenting at 20 days of age. Effusion of the right hip joint was one of the primary manifestations of the disease. During hospitalization, she went through sepsis workup and a four-week antibiotic therapy for management of lower limb pseudoparalysis. In spite of antibiotic therapy, she developed effusion of a second joint. According to the course and duration of symptoms and ILAR classification forJIA, oligoarticular JIA was diagnosed and treated.Conclusion: In this case, infectious diseases, such as tuberculosis and brucellosis, and malignancies were ruled out as a cause of inflammation through bone marrow aspiration, culture, and tests; ultrasound and magnetic resonance imaging showed no lytic and sclerotic lesions or a fracture. Our experience showed a rare case of JIA and suggested that JIA must be considered in children with joint inflammation at any age

Malignant Hidradenocarcinoma in the Lower Extremity: A Case Report of a Rare Tumor.

Science.gov (United States)

Kane, Brendan; Adler, Evan; Bhandari, Tarun; Rose, Michael; DiGuglielmo, Nicola; Sun, Xiu

Malignant hidradenocarcinomas are rare soft tissue tumors of sweat gland origin. We present the case of a soft tissue, fungating tumor of 15 years' duration of the medial ankle in an 85-year-old male that exhibited malignant features clinically and radiographically. Subsequent punch biopsy revealed a diagnosis of malignant hidradenocarcinoma. Given the risk of recurrence and the poor radiation and chemotherapy options, the patient initially decided to leave the lesion untreated. However, he soon developed lower extremity cellulitis from the exposed lesion and decided to have the tumor excised, eliminating the source of the infection. In the present case study, we discuss the etiology, clinical and radiographic characteristics, and treatment options for this rare lesion. At the 18-month follow-up visit, he had had no recurrence of the lesion. Copyright © 2017 The American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

An Extra-adrenal Pheochromocytoma Presenting as Malignant Hypertension-A Report of two cases

OpenAIRE

Kumar U, Mahesh; Pande, Pankaj; Savita, SS; PK, Ashwin; Yelikar, Balasaheb Ramling

2013-01-01

Malignant hypertension is a complication of hypertension characterized by elevated blood pressure (200mm/140mm Hg), is considered a medical emergency and is rarely secondary to paraganglioma. Malignant hypertension is unique in its relationship to a catecholamine secreting paraganglioma. We present two rare cases of malignant hypertension associated with paraganglioma of tonsil and urinary bladder.

A Rare Case of Multifocal Prostatic Blue Nevus

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Elias J. Farran

2018-01-01

Full Text Available Prostatic blue nevus is a rare benign pathologic diagnosis most commonly diagnosed incidentally on many different types of prostate specimens. Blue nevus is the deposition of stromal melanin characterized by spindle cells within the fibromuscular stroma which stains positive for melanin-specific stains Fontana-Masson and S100 and stains negative for CD68, HMB45, and iron stains. We report the case of a multifocal and bilateral blue nevus in a 52-year-old Hispanic male who presented with an elevated prostate-specific antigen of 4.3 and mild obstructive lower urinary tract symptoms, found by transrectal ultrasound-guided prostate needle biopsy. The biopsy also revealed benign prostatic tissue with postatrophic hyperplasia and chronic inflammation. This is the 35th reported case of prostatic blue nevus and the third to show multifocal blue nevus.

A Rare Case of Primary Infiltrating Neuroendocrine Carcinoma of the Breast

International Nuclear Information System (INIS)

Nawawi, Ouzreiah; Ying Goh, Keat; Rahmat, Kartini

2012-01-01

Primary neuroendocrine carcinoma of the breast is a very rare malignant tumor. There are not many cases reported in the English literature since it was first documented in 1983. Reports on the imaging features, in particular the ultrasonographic features of this rare tumor are scarce. Herein, we report a case of aggressive primary infiltrating neuroendocrine carcinoma of the breast, masquerading as an inflammatory breast condition in a 22-year-old young lady, perhaps the youngest case ever reported in the English literature. We discuss the imaging features and highlight the Doppler ultrasonographic findings of this rare breast carcinoma. This is the first documentation on Doppler ultrasonographic findings of primary neuroendocrine carcinoma of the breast in the literature

Angiomyomatous hamartoma: a rare case report with review of the literature

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Naseem Ansari

2009-12-01

Full Text Available Normal 0 false false false EN-GB X-NONE X-NONE MicrosoftInternetExplorer4 Angiomyomatous hamartoma of the lymph node is a benign vascular disorder of unknown aetiology, first described in 1991. However, to the best of our knowledge, it still remains a rare entity with only 17 cases reported so far. We report a case in an 82 year old male, present a review of literature, and stress the importance of diagnosis of this benign condition which obviates the need for unnecessary and extensive surgical resection.

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

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Sneha H Choudhary

2017-01-01

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

[Partial facial duplication (a rare diprosopus): Case report and review of the literature].

Science.gov (United States)

Es-Seddiki, A; Rkain, M; Ayyad, A; Nkhili, H; Amrani, R; Benajiba, N

2015-12-01

Diprosopus, or partial facial duplication, is a very rare congenital abnormality. It is a rare form of conjoined twins. Partial facial duplication may be symmetric or not and may involve the nose, the maxilla, the mandible, the palate, the tongue and the mouth. A male newborn springing from inbred parents was admitted at his first day of life for facial deformity. He presented with hypertelorism, 2 eyes, a tendency to nose duplication (flatted large nose, 2 columellae, 2 lateral nostrils separated in the midline by a third deformed hole), two mouths and a duplicated maxilla. Laboratory tests were normal. The cranio-facial CT confirmed the maxillary duplication. This type of cranio-facial duplication is a rare entity with about 35 reported cases in the literature. Our patient was similar to a rare case of living diprosopus reported by Stiehm in 1972. Diprosopus is often associated with abnormalities of the gastrointestinal tract, the central nervous system, the cardiovascular and respiratory systems and with a high incidence of cleft lip and palate. Surgical treatment consists in the resection of the duplicated components. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

A RARE CASE OF BILATERAL MICROSPHEREPHAKIA

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Pandu

2015-05-01

Full Text Available Microspherophakia is rare bilateral congenital anamoly of the crystalline lens. The condition may be isolated , familial or it may be associated with systemic affections like Marfan's syndrome , Weil - Marchesani syndrome , hyperlysinemia and congenital rubella. Microspherophakia results in lenticular myopia , lens dislocation , usually inferiorly and inverse glaucoma. We present a case in a 8 year old child who presented with bilateral microspherophakia and anterior dislocation of lens of right eye. visual acuity in right eye was counting fingers close to face and i n left eye 6/60.IOP with perkins applanation tonometer was 30mmHg in right eye 22mmHg in left eye , cornea was hazy due to edema , anterior chamber was shallow in both eye patient was managed with emergency lens extraction of right eye and secondary ACIOL im plantation. Left eye was managed by laser peripheral iridotomy. IOP was within normal limits postoperatively in both eyes without any antiglaucoma medications. Postoperatively best corrected visual acuity in right was 6/18 and 6/9 in left eye.

POLYCYSTIC OVARIES WITH STROMAL HYPERTHECOSIS: A RARE PRESENTATION

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Shaila

2016-05-01

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.

Severe neutropenia revealing a rare presentation of dengue fever: a case report.

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Shourick, J; Dinh, A; Matt, M; Salomon, J; Davido, B

2017-08-17

Arboviruses are a common cause of fever in the returned traveler often associated with leucopenia, especially lymphopenia and thrombocytopenia. Transient neutropenia has been described in a few cases of arboviruses. However, prolonged and severe neutropenia (dengue fever, especially in the returned traveler in Europe. A 26-year-old healthy female without any medical past history, flying back from Thailand, presented a transient fever with severe neutropenia (dengue fever. Outcome was favorable without any antimicrobial therapy. Physicians should be wary of possible unusual presentation of dengue fever with prolonged neutropenia. Although such biological sign is more often associated with malaria or severe bacterial infection, it may be a sign of arbovirus.

A Rare Case of Chronic Ectopic Pregnancy Presenting as Large Hematosalpinx

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Madhavi Nacharaju

2014-01-01

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

A rare metastasis from a rare brain tumour

DEFF Research Database (Denmark)

Aabenhus, Kristine; Hahn, Christoffer Holst

2014-01-01

This case report presents the story of a patient with an oligodendroglioma metastasizing to the bone marrow and to lymph nodes of the neck. The patient had undergone primary brain surgery 13 years prior to the discovery of metastases and radiotherapy directed at the brain tumour two months prior........ Oligodendroglioma are rare primary brain tumours of which extraneural metastasis is even more rare. The incidence of cases like this may be increasing because of better treatment and thus longer survival of patients with oligodendroglioma....

A colonic splenic flexure tumour presenting as an empyema thoracis: a case report.

LENUS (Irish Health Repository)

Murphy, K

2009-01-01

The case report describes the rare presentation of a 79-year-old patient with a locally perforated splenic flexure tumour of the colon presenting with an apparent empyema thoracis in the absence of abdominal signs or symptoms.

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

Science.gov (United States)

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

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

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

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Pradhan M Pagaro

2014-01-01

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

Successful treatment of rare-earth magnet ingestion via minimally invasive techniques: a case series.

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Kosut, Jessica S; Johnson, Sidney M; King, Jeremy L; Garnett, Gwendolyn; Woo, Russell K

2013-04-01

Cases of rare-earth magnet ingestions have been increasingly reported in the literature. However, these descriptions have focused on the severity of the injuries, rather than the clinical presentation and/or therapeutic approach. We report a series of eight children, ranging in age from 2 to 10 years, who ingested powerful rare-earth magnets. The rare-earth magnets were marketed in 2009 under the trade name Buckyballs(®) (Maxfield & Oberton, New York, NY). They are about 5 mm in size, spherical, and brightly colored, making them appealing for young children to play with and place in their mouths. Three children presented within hours of ingestion, and the magnets were successfully removed via endoscopy in two, whereas the third child required laparoscopy. No fistulas were found in these children. A fourth child presented 2 days after ingestion with evidence of bowel wall erosion, but without fistula formation; the magnets were removed via laparoscopy. A fifth child ingested nine magnets in a ring formation, which were removed via colonoscopy without evidence of injury or fistula formation. The three remaining children presented late (5-8 days after ingestion) and were found to have associated fistulas. They were treated successfully with a combination of endoscopy and laparoscopy with fluoroscopy. None of the children in our series required an open surgical procedure. All children were discharged home without complications. This case series highlights the potential dangers of rare-earth magnet ingestion in children. Our experience suggests that prompt intervention using minimally invasive approaches can lead to successful outcomes.

Unusual Presentation of Uncommon Disease: Anorexia Nervosa Presenting as Wernicke-Korsakoff Syndrome—A Case Report from Southeast Asia

OpenAIRE

Mushtaq, Raheel; Shoib, Sheikh; Shah, Tabindah; Bhat, Mudasir; Singh, Randhir; Mushtaq, Sahil

2014-01-01

Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa...

Mixed Pyolaryngocele: A Rare Case of Deep Neck Infection

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Rachid Mahdoufi

2017-07-01

Full Text Available Introduction: Pyolaryngocele is a very rare and serious complication of laryngocele. It can present as deep neck space infection and mislead the diagnosis. Our aim is to bring this unusual entity to the attention of surgeons and describe its clinical features. Case Report: We report a case of a 45-year-old male patient with a five-week history of neck swelling, dysphonia, dyspnea and odynophagia. An urgent CT scan showed a mixed pyolaryngocele. The management consisted of a high dose antibiotic and an excision of the residual laryngocele via an external approach. Conclusion: A pyolaryngocele is an unusual complication of laryngocele, which becomes secondarily infected, causing many symptoms. Removing the laryngocele is still the best treatment option to prevent this complication and recurrence.

Primary tuberculosis of the breast manifested as abscess: a rare case report.

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Gupta, Samita; Singh, Vikram J; Bhatia, Gaurav; Dhuria, Kshitiz

2014-01-01

Primary breast tuberculosis is a rare entity. We are reporting a case of primary breast tuberculosis, which presented as breast abscess. On histopathology, it was diagnosed as breast tuberculosis. Aspiration cytology was not done due breast abscess. Patient was put on anti-tubercular drugs. In follow up, after 3 months patient condition was improved.

Rogue-Elephant-Inflicted Panfacial Injuries: A Rare Case Report

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Santosh Kumar Yadav

2012-01-01

Full Text Available Attacks by elephants, the largest of the “large animals,” produce many fatalities a year. Most attacks are provoked, although rogue elephants are occasionally responsible. Trampling, goring, tossing the individual with the trunk, or crushing with the knees produces the injuries. Injuries from encounters with large animals represent a significant health risk for rural communities. Wild-animal-inflicted maxillofacial injuries are rare, and limited literature is available describing their management. We present a case of severe maxillofacial injuries caused by the attack of a rogue elephant.

Nevus of Ota with Rare Palatal Involvement: A Case Report with Emphasis on Differential Diagnosis

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Gaurav Sharma

2011-01-01

Full Text Available Nevus of Ota, a dermal melanocytic nevus, is rare in the Indian subcontinent. It presents as a brown, blue, or gray patch on the face and is within the distribution of the ophthalmic and maxillary branches of the trigeminal nerve. The oral cavity is infrequently involved in nevus of Ota. Only 11 cases have been documented in the English literature. We report a rare case of intraoral nevus of Ota in a 22-year-old male patient. This paper focuses on the differential diagnosis of oral manifestations of nevus of Ota to assist in proper followup to avert malignant transformation.

Nodulocystic basal cell carcinoma arising directly from a seborrheic keratosis: A rare case report

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Kana Shibao

2016-01-01

Full Text Available Seborrheic keratoses (SKs are common epidermal tumors composed of benign keratinocytes. Malignant skin tumors including basal cell carcinoma (BCC rarely arise within SKs. We report a rare case of an 82-year-old man with nodulocystic BCC that appeared at the center of a scaly hyperpigmented SK that had been presented for more than 10 years. It was histologically confirmed that CK19-positive BCC arose directly from the wall of the pseudohorn cyst, a part of the SK. Nodular and/or cystic BCC also rarely arise within SKs while the most common histologic type of BCC within SKs is the superficial type. Careful observation of SKs is important even though it is rarely a background condition for malignant transformation.

“Peripheral Neuropathy Crippling Bronchial Asthma”: Two Rare Case Reports of Churg-Strauss Syndrome

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Kamal Kishore Pandita

2014-01-01

Full Text Available Churg-Strauss syndrome (CSS is a rare cause of vasculitic neuropathy. Although rare and potentially fatal, Churg-Strauss syndrome (CSS is easily diagnosable and treatable. The presence of bronchial asthma with peripheral neuropathy in a patient alerts a physician to this diagnosis. This is vividly illustrated by the presented two cases who had neuropathy associated with bronchial asthma, eosinophilia, sinusitis, and positive perinuclear antineutrophil cytoplasmic antibodies (p-ANCA test, which improved with administration of steroids.

Primary mediastinal melanoma presenting as superior vena cava syndrome: A case study

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Ann C Gaffey

2016-03-01

Full Text Available The rates of melanoma have increased over the past 30 years. Malignant melanoma most commonly occurs in the skin with secondary involvement of other organs. Here, we present an extremely rare case of malignant melanoma of the mediastinum with presentation of superior vena cava syndrome without clinical evidence of extrathoracic disease. The incidence of this clinical presentation is uncommon, resulting in only a handful of case reports in the literature. [Arch Clin Exp Surg 2016; 5(1.000: 56-58

Histoplasmosis Presenting as Granulomatous Hepatitis: Case Report and Review of the Literature

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Nancy A. Rihana

2014-01-01

Full Text Available Background. Histoplasma capsulatum is the most common endemic mycosis in the United States and is a frequent cause of opportunistic infection in immunodeficient hosts. Histoplasmosis is most often self-limiting and goes unrecognized in the immunocompetent population but can progress to disseminated histoplasmosis in patients with an impaired immune system. Liver involvement as a part of disseminated histoplasmosis which usually originates in the lung is well known. However, extrapulmonary hepatic histoplasmosis as a primary manifestation is extremely rare. Case Presentation. We report a rare case of histoplasmosis that presented as persistent fever and abnormal liver function tests in a 66-year-old female with rheumatoid arthritis, receiving infliximab. Conclusion. Emphasizing histoplasmosis as a major cause of acute granulomatous hepatitis and fever of unknown origin in cell mediated immunodeficient population, this case highlights the need for high index of suspicion and the importance of prompt diagnosis since any delay of treatment can be life threatening in this population.

Histoplasmosis presenting as granulomatous hepatitis: case report and review of the literature.

Science.gov (United States)

Rihana, Nancy A; Kandula, Manasa; Velez, Ana; Dahal, Kumud; O'Neill, Edward B

2014-01-01

Background. Histoplasma capsulatum is the most common endemic mycosis in the United States and is a frequent cause of opportunistic infection in immunodeficient hosts. Histoplasmosis is most often self-limiting and goes unrecognized in the immunocompetent population but can progress to disseminated histoplasmosis in patients with an impaired immune system. Liver involvement as a part of disseminated histoplasmosis which usually originates in the lung is well known. However, extrapulmonary hepatic histoplasmosis as a primary manifestation is extremely rare. Case Presentation. We report a rare case of histoplasmosis that presented as persistent fever and abnormal liver function tests in a 66-year-old female with rheumatoid arthritis, receiving infliximab. Conclusion. Emphasizing histoplasmosis as a major cause of acute granulomatous hepatitis and fever of unknown origin in cell mediated immunodeficient population, this case highlights the need for high index of suspicion and the importance of prompt diagnosis since any delay of treatment can be life threatening in this population.

SMART Syndrome: Case report of a rare complication after cerebral radiation therapy

International Nuclear Information System (INIS)

Truntzer, P.; Salze, P.; Monjour, A.; Gaultier, C.; Ahle, G.; Guillerme, F.; Boutenbat, G.; Atlani, D.; Stilhart, B

2012-01-01

The authors report a 71-year-old woman case who developed, 7 years after a cerebral radiation therapy for a parieto-occipital glioblastoma, a stroke-like migraine attacks after radiotherapy syndrome (SMART syndrome), a rare complication characterized by reversible neurologic deficits with migraine described after cerebral irradiation. Transient gyri-form reversible enhancement is found on MRI during crises. This case report allows discussing the clinical, iconographic presentation and the clinical outcome of this syndrome at the light of the literature publication. (authors)

Imaging of Kaposi sarcoma in a transplanted liver: A rare case report

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Saumya Gupta

2015-06-01

Full Text Available In post-transplant patients, de novo malignancies such as post-transplant lymphoproliferative disease (PTLD, lung carcinoma, renal cell carcinoma, cutaneous malignancies, and Kaposi sarcoma are now seen. The immunotherapy used to prevent graft failure indirectly increases their risk. We present a rare case of visceral Kaposi sarcoma in a patient with orthotopic liver transplant.

Rare case of solitary plasmacytoma of the skull in a young male ...

African Journals Online (AJOL)

Solitary plasmacytoma of bone without signs of multiple myeloma is a rare entity. It usually presents as an osteolytic lesion in the axial skeleton of an elderly patient. Here, we report a case of solitary plasmacytoma in the skull of a young male patient which emphasises the need to consider it in the differential diagnosis of a ...

Unusual sinonasal foreign body: presentation of three cases.

Science.gov (United States)

Nazar, Rodolfo; Cabrera, Natalia; Martelo, Grettel; Machiavello, Cecilia; Naser, Alfredo

2014-01-01

Sinonasal foreign bodies are rare clinical entities. Their presence in the sinuses can originate complications, so their removal is always indicated. We present 3 cases of sinonasal foreign body, indicating their symptoms, imaging findings and surgical removal. Each patient was assessed with computerized tomography of the sinuses, rigid endoscopy, and then surgical removal. We confirmed the presence of the foreign bodies in all 3 cases and then performed a successful surgical removal by transnasal endoscopy. Sinonasal foreign bodies are infrequent entities that require surgical removal to prevent complications, with transnasal endoscopic surgery being the most commonly used surgical approach. Copyright © 2013 Elsevier España, S.L. All rights reserved.

A case report of gastric lymphocytic phlebitis, a rare mimic for malignancy.

Science.gov (United States)

Chan, Daniel L; Ravindran, Praveen; Chua, Dorothy; Smith, Jason D; Wong, King S; Ghusn, Michael A

2017-01-01

Lymphocytic phlebitis is a benign condition characterised by inflammation of the veins and rarely affects the gastrointestinal tract. Reported cases present as acute abdomen and involve the colon or small intestine. We report the fourth case of gastric lymphocytic phlebitis in the literature. A 74-year-old female presented with eight weeks of abdominal pain. Findings at endoscopy were suggestive of a malignant ulcer on the greater curvature of antrum, while biopsies showed chronic gastritis without malignancy. Appearance at diagnostic laparoscopy was consistent with a malignant gastric ulcer with serosal changes. Due to persistent pain and the macroscopic appearance, she proceeded to have an open subtotal gastrectomy and D2 lymph node clearance. Despite macroscopic appearance, the microscopic examination demonstrated no malignancy, and was consistent with lymphocytic phlebitis with overlying ulceration. This case was a mimic for gastric malignancy, with the benign diagnosis only being made after surgical resection. Gastric lymphocytic phlebitis is a rare differential diagnosis for gastric ulcers when biopsies are negative, although preoperative diagnosis is difficult given the lesions do not involve the mucosa. If clinical history and endoscopic findings are suspicious for malignancy, despite normal biopsies, an aggressive surgical resection remains reasonable given the rarity gastric lymphocytic phlebitis. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

A rare case of trichotillomania with antisocial personality disorder

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Priti Singh

2015-01-01

Full Text Available Trichotillomania (TTM is characterised by recurrent and irresistible urge to pull out one’s own body hair. It is often associated with trichorrhizophagia in which there is a habit to eat the roots of pulled out hairs. It can also present with many comorbid psychiatric problems including personality disorders. High rates of comorbid mood, anxiety, and substance use disorders have been detected in patients of TTM. The lifetime prevalence of comorbid personality disorders has been much less extensively studied. We present a rare case of 28-year-old male having TTM with antisocial personality disorder and discuss difficult management issues with this comorbidity. Our patient improved with a combination of fluoxetine and sodium valproate.

Human Listeriosis Presenting as Breast Abscess: Report of a Rare Case.

Science.gov (United States)

Kandi, Venkataramana

2017-02-01

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.

Prehepatocholedochal proper hepatic artery. Rare anatomical variant. Surgical considerations. Case report.

Science.gov (United States)

Ardeleanu, V; Chicoş, S; Tutunaru, D; Georgescu, C

2014-01-01

In classical anatomic variants, the proper hepatic artery (PHA)continues the common hepatic artery (CHA) after the gastroduodenal artery (GDA) detaches itself and divides into the right hepatic artery (RHA) and left hepatic artery (LHA), the proper hepatic artery being located to the left of the hepatocholedochal duct (HCD). This paper presents an abnormal positioning of the PHA placed before the HCD with an increased diameter of about 5-7 mm, which could be confused with the HCD. We present the case of a 57 year-old woman diagnosed with acute lithiasic cholecystitis, associated with hypersplenism and hypertension. The literature mentions manifold anatomical variants of arterial liver vascularization,including PHA. For this reason, this paper presents an overview of similar cases that can be found in medical literature. The aforementioned case is a rare topographic anatomy for the PHA that can easily pass for HCD especially during celioscopy, therefore it is crucial for this to be acknowledged by all surgeons. Celsius.

Submucosal lipoma of the sigmoid colon as a rare cause of mucoid diarrhea: a case report

OpenAIRE

Dassanayake, S. U. B.; Dinamithra, N. P.; Nawarathne, N. M. M.

2016-01-01

Background Symptomatic presentations of colonic lipomas are very rare in clinical practice, and may mimic colonic malignancy. The likelihood of presenting symptoms has been shown to depend on the size of the lesion. Case presentation We describe the case of a 72-year-old Sinhalese man presenting with worsening mucoid diarrhea who was subsequently diagnosed to have a lipoma of the sigmoid colon. His disease was successfully managed with endoscopic resection. Conclusion Confidently establishing...

Ovarian tubercular abscess mimicking ovarian carcinoma: A rare case report

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Abinash Agarwala

2015-01-01

Full Text Available Although genito-urinary tuberculosis is common, reports of isolated ovarian tubercular abscess are rare. Ovarian tubercular abscess may mimics that of an ovarian tumor, leading to diagnostic difficulties. We reported a case report of 35 years woman presented with chronic pain abdomen, weight loss, low-grade fever and a right ovarian mass on ultrasound, with a significantly elevated CA-125 level. On clinical and radiological evidence, diagnosis of ovarian carcinoma was made, and laparotomy was performed with resection of the ovary. Postoperative specimen sent for histological examination that revealed classic epithelioid granuloma and acid-fast bacilli were present in Ziehl-Neelsen stain. Patient was put on antitubercular regimen from our Dots center. She is improving clinical after taking antitubercular drug and is on regular follow up at our chest outpatient department. Ovarian tubercular abscess is common in young women living in endemic zones, but case report of isolated tubercular abscess is rarely reported. CA-125 can be raised in both ovarian tubercular abscess and ovarian carcinoma, and only imaging is not always conclusive. Laparotomy followed by tissue diagnosis can be helpful in this situation. As the prognosis and treatment outcome of ovarian tubercular abscess and ovarian carcinoma is different, proper diagnosis by laparotomy should be done. Early diagnosis of ovarian tubercular abscess is vital as untreated disease can lead to infertility.

Cervical nodular fasciitis in a 10-year-old girl: a case report of a rare ...

African Journals Online (AJOL)

Thus, as clinical and morphologic characteristics are similar to those of malignant tumours, this entity is often misdiagnosed, with a few cases described in the literature. We present a case of nodular fasciitis involving the retropharynx and hypopharynx of a 10-year-old girl and discuss the importance of considering this rare ...

A rare case of small bowel volvulus after jenjunoileal bariatric bypass requiring emergency surgery: a case report