Rare Case Series Research Articles

Tu1459 – A Pain in the Gut: A Rare Case Series of Siblings with Lipoprotein Lipase Deficiency and Associated Acute Pancreatitis

Tu1459 – A Pain in the Gut: A Rare Case Series of Siblings with Lipoprotein Lipase Deficiency and Associated Acute Pancreatitis

Surgical outcomes of primary carcinosarcoma of the gallbladder after curative resection: A rare case series

IntroductionPrimary carcinosarcoma is a rare neoplasm of the gallbladder, and is characterized by collision elements of the adenocarcinomatous and sarcomatous components. The tumours comprise both malignant epithelial and mesenchymal elements, and are usually very aggressive, conferring poor prognosis. Adenocarcinomas are the most common neoplasms of the gall bladder, while carcinosarcoma are extremely rare, with a global prevalence rate of less than 1%. The low incidence of carcinosarcoma greatly hinders the understanding of its aetiology. Presentation of CaseHere, we report the surgical outcome of 3 rare cases of gallbladder carcinosarcomas, two of which had a IVB stage disease and in one case the staging was II. Following surgery, the survival in the former was less than 1 year, while in the latter, it extended up to 7 years (86 months), and the patient is alive till date. This study aimed to elucidate the surgical outcomes and prognosis after curable resection for carcinosarcomas of the gallbladder. DiscussionThe findings suggest that carcinosarcomas are associated with a poor prognosis and short survival, particularly in those with tumours of >5 cm. In the absence of effective adjuvant treatment, surgery remains the mainstay of treatment. ConclusionComplete surgical resection may improve prognosis and extend survival in patients with this rare and aggressive form of gallbladder cancer.

Keloids coexisting with vitiligo − A rare case series

Keloids coexisting with vitiligo − A rare case series

Auditory Neuropathy and Spectrum of Disorder !$£ from a Audiological Perspective- A Rare Case Series

Auditory Neuropathy and Spectrum of Disorder !$£ from a Audiological Perspective- A Rare Case Series

Nephrotoxicity in krait bite: a rare case series of three fatalities in consecutive bites by a single snake

BackgroundDeath due to poisonous snakebite is a formidable health hazard. It is a matter of concern especially in agrarian countries. Clinically snakebite envenomation are neurotoxic and vasculotoxic. Krait (Bungarus faciatus) Venom is essentially neurotoxic.Nephrotoxicity in krait bite is an important issue that has been less studied and reported.Case presentationIn the present series, we report three cases of deaths in consecutive bites by a single banded krait.Significant renal involvement was found at autopsy. The kidneys showed interstitial haemorrhage and inflammatory cell infiltration. The renal changes were similar in all the three cases bitten by the same snake.ConclusionsFrom the findings of autopsy and histology of the present case series we can conclude that nephrotoxicity is an important effect of krait bite. Though less reported and researched kidney changes in krait bite is a significant issue in treatment as well as autopsy diagnosis. .We can also infer that the immunogenicity of the snake venoms can be different from our expectation.

Infant Leukemia – Rare Case Series From A Tertiary Children’s Hospital

Infant Leukemia – Rare Case Series From A Tertiary Children’s Hospital

Myocardial Infarction as an Early Presentation in Thrombotic Thrombocytopenic Purpura: A Rare Case Series.

Renal and neurological involvements are frequently seen in thrombotic thrombocytopenic purpura (TTP). Cardiac involvement, however, has been rarely reported. In this article, we present 2 cases of myocardial infarction in patients with TTP. In the first case, a young man presented with non–ST-segment elevation myocardial infarction that resolved promptly with plasmapheresis. The second patient developed ST-segment elevation myocardial infarction early in the course of the disease and died before plasmapheresis could be initiated. Hence, a high degree of suspicion with prompt diagnosis and treatment is needed to prevent mortality associated with cardiac involvement in TTP.

Case series of rare cases of bilateral open lip Schizencephaly presenting with Status Epilepticus

Case series of rare cases of bilateral open lip Schizencephaly presenting with Status Epilepticus

Fracture Dislocations of the Coccyx: A Case Series and Literature Review

Study design: A case report and literature review. Objective: To present a rare case series of dislocation of the mid-coccygeal and sacro-coccygeal joints in a young adult and a baby, who were treated conservatively. Summary of background data: Dislocations of the mid-coccygeal or the sacro-coccygeal joints are infrequent injuries and are rarely reported. The treatment for these disorders is usually conservative. Methods: Detailed description of the posterior dislocation of the mid-coccygeal joint in a 19-year-old patient and a complete anterior dislocation (Salter-Harris type I) of the sacro-coccygeal joint in a 2 year and 8 months baby and management of both cases are presented, with review of the relevant literature. Results: A conservative treatment was performed in both cases. Clinical and radiological results at sixteen months after the injury in the first case, and five months in the second, revealed excellent results, with good healing of the dislocation and in normal alignment. Conclusion: Fracture dislocation of the mid-coccygeal and sacro-coccygeal joints in the young adults and pediatric population could be treated conservatively, as the potential of healing and remodelling is great. Closed reduction should not be attempted.

A Series of Rare Chronic Histiocytic Intervillositis Cases and its Association With Fetal Growth Restriction

A Series of Rare Chronic Histiocytic Intervillositis Cases and its Association With Fetal Growth Restriction

Three Simultaneous Cases of Spontaneous Pneumomediastinum With Epidural Pneumatosis During Vocal Training

The aim of this study was to describe a case series of three simultaneous cases of spontaneous pneumomediastinum (SPM) with epidural pneumatosis during vocal training. A report of three cases with chart review was performed. Literature review was carried out using PubMed. This was an extremely rare case series where at least three of the 20 participants of a vocal training in a self-development seminar developed SPM, epidural pneumatosis, pneumothorax, and subcutaneous emphysema. All cases improved with bed rest. Simultaneous cases of SPM have been reported in the past. However, the cause of simultaneous occurrence has not been explained clearly. In our cases, continuous excessive vocal training may have caused intrathoracic pressure to rise, causing SPM at a high prevalence. Epidural pneumatosis is a rare finding. Studies on epidural pneumatosis complicating SPM are limited. Air is said to easily pass through the cervical region owing to the close proximity between the mediastinum and the upper spine, resulting in epidural pneumatosis. Elevated intrathoracic pressure while the glottis is closed may worsen the risk for epidural pneumatosis. In this seminar, continuous effortful vocal training at full pitch with few pauses for breath may have contributed to this simultaneous occurrence. We report three simultaneous cases of SPM and epidural pneumatosis due to demanding vocal training. Further research on this subject is desired to identify risk factors.

Three rare cases of cutaneous phaeohyphomycosis

Phaeohyphomycosis is a chronic infectious condition caused by dematiaceous fungi which usually involve the skin and subcutaneous tissue. Subcutaneous phaeohyphomycosis is characterised by papulonodules, verrucous, hyperkeratotic or ulcerated plaques, cysts, abscesses, pyogranuloma, non-healing ulcers or sinuses. In India, commonly associated genera are Exophiala, Phialophora, Cladosporium, Curvularia, Fonsecaea and Alternaria. This condition involves the presence of brown-walled hyphal structures in the dermis and epidermis. Here, we are reporting a rare case series of three patients of phaeohyphomycosis with lesions on finger and dorsum of the hand.

Bilateral Vocal Cord Palsy with Arnold Chiari Malformation: A Rare Case Series.

Stridor in paediatric age group is not an uncommon presentation to the ENT emergency. The range of differential diagnosis is vast. The presentation may vary from noisy breathing to severe respiratory distress and apnea. Early and meticulous diagnosis is crucial for the management as the condition may be life threatening. We report a rare case series of 3 infants with Arnold Chiari Malformation who presented to the hospital with stridor and were diagnosed with bilateral vocal cord palsy. These 3 infants had similar underlying neurological condition with hydrocephalus and raised intracranial pressure. Chiari malformation is the one of the most common congenital central nervous system anomaly associated with bilateral vocal cord paralysis. However, the presentation is rare. This article, thus, emphasizes the significance of early diagnosis and immediate management of this condition.

Peripheral ossifying fibroma: A rare case series

Many types of localized reactive lesions may occur on the gingiva, including focal fibrous hyperplasia, pyogenic granuloma, peripheral giant cell granuloma, and peripheral ossifying fibroma (POF). These lesions may arise as a result of such irritants as trauma, microorganisms, plaque, calculus, restorations, and dental appliances. The purpose of this article is to present case series of POF, briefly review the current literature on this condition, and emphasize the importance of discussion of a reasonable differential diagnosis with the patient or a parent.

BRAIN NEOPLASMS IN PATIENTS WITH CEREBROVASCULAR DISEASES

There is recent evidence of co-occurrence of benign and malignant brain tumours and cerebrovascular disorders in the same patients. The present concise review analyzes the newly-published foreign literature on this actual topic. The epidemiological investigations reveal an association between the acute ischaemic and haemorrhagic stroke, on the one hand, and some common cerebral neoplasms, on the other hand. The role of modern thrombolytic therapy in such patients is outlined. The risks of chemotherapy and radiotherapy for the development of stroke should be taken into consideration. A series of interesting rare cases illustrating the diagnostic and therapeutic opportunities in the patients presenting with simultaneous or consecutive common cerebral neoplasms and stroke proves the necessity of careful diagnosis and timely management of these patients in the routine clinical practice.

A Rare Case Series Demonstrating the Mixed Pattern of Metformin Induced Hepatotoxicity

A Rare Case Series Demonstrating the Mixed Pattern of Metformin Induced Hepatotoxicity

Tumors of the head and neck in child surgery. How can we help children?

This lecture presents a series of rare clinical cases in the field of pediatric head and neck oncology. Lecture showing the importance of early diagnosing and prevention of these diseases. A series of author’s unique cases are presented. These cases show the importance of multidisciplinary approach for treatment of this category of patients.

The Occurrence of Gastrointestinal Stromal Tumors and Second Malignancies.

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal malignancy of the gastrointestinal tract. GISTs may coexist with different types of cancer, either synchronous or metachronous. The frequency of this association and the spectrum of neoplasms involved have not been sufficiently analyzed; most of publications describe a single case report and rare case series. In the absence of definitive data, it could be interesting to compare the frequency of the occurrence of GIST and second malignancies in literature. A review of all case series that reported the frequency of the occurrence of GIST and synchronous second malignancies were considered. Six retrospective case series were considered, including 440 GIST patients; of these, there were 64 (14.5 %) patients with other synchronous second malignancies. Median age was 67 years, median GIST size was 3.91 cm (range 3.0-4.79 cm), and all cases (100.0 %) were CD117 and CD34 positive. According to the risk categories, 35.2 % of patients had a very low risk, 24.0 % a low risk, 27.6 % an intermediate risk, and 13.2 % a high risk. Regarding the occurrence of GISTs and synchronous second malignancies, we can consider it as more common than it has been considered. Differently, concerning the topic of the incidence of second primary malignancies (SPMs) and metachronous second malignancies in pre-imatinib and after-imatinib era, we can consider it as a clinically relevant topic; according to the present knowledge, the main cause for the increased incidence of SPMs in the imatinib era is explained by the increased survival of patients with metastatic GISTs and therefore more time available to develop SPMs.

Collagenofibrotic glomerulopathy

BackgroundCollagenofibrotic glomerulopathy is a rare renal disease of unknown etiology that is secondary to deposition of type III collagen within the glomerulus. Only rare case series exist in the literature.MethodsRenal biopsies diagnosed with collagenofibrotic glomerulopathy were prospectively collected at the Center for Renal and Urological Pathology (AAK) (Chennai, Tamil Nadu, India) from 2012 to 2015. Eight patients were entered into the study. The average age was 38 years with five males and three females.ResultsAll patients presented with nephrotic syndrome, and five displayed hypertension. The average serum creatinine was 146.5 µmol/L (88.4–282.9 µmol/L range). All serologic testing was negative, and complement levels were normal. No clinical evidence of nail–patella syndrome was seen. All cases showed diffuse mesangial expansion and double contour formation by peroidic acid-Schiff (PAS)-negative material. All immunofluorescence studies were negative. By electron microscopy all cases showed electron dense, banded to curvilinear collagen bundles within the mesangium and subendothelial aspect of the peripheral capillary walls. All patients appear to have sporadic disease occurrence with no family history of renal disease. No hemolytic uremic syndrome, liver fibrosis, lymphoma or co-occurrence of other renal disease were seen.ConclusionCollagenofibrotic glomerulopathy is a rare disease that appears to occur more frequently in adult Indian populations in a sporadic, non-familial manner. To our knowledge, this is the largest cases series of collagenofibrotic glomerulopathy in an adult population.

Follicular dendritic cell sarcoma: two rare cases and a brief review of the literature.

Follicular dendritic cell sarcoma (FDCS) is a rare malignant tumor recognized in recent years. It accounts for only 0.4% of soft-tissue sarcomas, and its underlying causes are largely unknown. A correct diagnosis can be difficult to make. Diagnosis of FDCS depends on the combined clinical examination, histopathologic features, electron microscopic examination and confirmation with immunohistochemical studies. Here, we report two rare cases of FDCS: one case involving multiple bones, and the other involving extensive abdominal and pelvic cavities. Clinical, histopathological, and immunohistochemical aspects, therapeutic options, and a related literature review of the two cases are discussed. As the prevalence of FDCS is increasing, the details of these rare cases may highlight the importance and facilitate treatment of similar diseases.