Munchmeyer's disease-a rare case report and review of literature.
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ABSTRACT:
SUBMITTER: Sheth SB
PROVIDER: S-EPMC4082270 | biostudies-other | 2014
REPOSITORIES: biostudies-other
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Project description:IntroductionMucocele is a slow growing, benign but locally aggressive cystic structure lined by true epithelium. It often results due to obstructed sinus outflow or obstruction of gland-like mucous retention cyst. It can cause bony destruction and might result in orbital symptoms like diplopia, orbital displacement, visual disturbances. Other clinical features are facial numbness, dental problems, etc. Radiological evaluation is the preferred diagnostic modality. Surgical removal is the treatment of choice both endoscopic and open (could well luc) approach or combined approach are preferred. Here we report a very typical case of maxillary mucocele who presented with subtle symptoms of nasal obstruction. The study was done in compliance with SCARE guidelines.[1].Case presentationWe present a very unique case of 24 years man with complaints of nasal obstruction and swelling over the right cheek for 2 years. He had a history of facial trauma two years back. Diagnosis was made on the basis of radiological examination CT (Computed Tomography) scan. He underwent enucleation via Cold well Luc's approach with good postoperative results.ConclusionMaxillary mucoceles are slow growing benign lesions. However, they are locally aggressive and cause bony destruction resulting into orbital and dental symptoms. Thus early recognistion with regular folllowr up and planning for surgical intervention can help avoid complications.
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Project description:Robinow syndrome is an extremely rare genetic disorder. Short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral defects comprise its distinct features. This disorder exists in dominant and recessive patterns. Patients with the dominant pattern exhibit moderate symptoms. More physical characteristics and skeletal abnormalities characterize the recessive group. The syndrome is also known as Robinow-Silverman-Smith syndrome, Robinow dwarfism, fetal face, fetal face syndrome, fetal facies syndrome, acral dysostosis with facial and genital abnormalities, or mesomelic dwarfism-small genitalia syndrome. Covesdem syndrome was the name entitled for the recessive form previously. Here, we report a case of 8-year-old female with a autosomal recessive Robinow syndrome having skeletal and vertebral defects. How to cite this article: Soman C, Lingappa A. Robinow Syndrome: A Rare Case Report and Review of Literature. Int J Clin Pediatr Dent 2015;8(2):149-152.
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Project description:INTRODUCTION: Extramedullary plasmacytoma is a plasma cell tumor that grows within any of the soft tissues of the organism. Similar to all plasmacytic dyscrasia, the disease is extremely rare. AIM: This study reports a case of an extramedullary plasmacytoma of the nasal cavity and provides a literature review on the topic. CASE REPORT: A 51-year-old woman presented at our tertiary university hospital with a 6-month history of progressive nasal obstruction, predominantly to the right side, and self-limiting epistaxis. Examination revealed a large pale-reddish tumor within the right nasal cavity. Anatomopathological analysis showed features consistent with a plasmacytoma diagnosis, which was subsequently confirmed by immunohistochemical techniques. Further assessment revealed the solitary nature of the condition, consistent with extramedullary plasmacytoma. Radiotherapy was initiated, which led to partial regression of the symptoms. The tumor was surgically removed by using a mid-facial degloving approach. The patient evolved with a naso-oral fistula and underwent 3 corrective surgeries. No evidence of associated systemic disease was found after 5 years of follow-up. CONCLUSIONS: This case report, which describes a rare tumor of the nasal cavity, is expected to improve the recognition and referral of this condition by ear, nose, and throat (ENT) specialists for multidisciplinary management and long-term follow-up.
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Project description:Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare, benign clinical entity of unknown cause. RDD is characterised by the overproduction and accumulation of histiocytes, primarily in the lymph nodes, although it may affect every organ and system. It predominantly affects children and young adults. Typically, patients are in good general condition, with massive cervical lymphadenopathy and fever. In about 40% of cases extranodal localisation of RDD is diagnosed. In laboratory tests the most common abnormalities are increased erythrocyte sedimentation rate (ESR), leukocytosis with neutrophilia, normocytic anaemia, and hypergammaglobulinaemia. Histopathological examination remains the mainstay of diagnosis - lymph nodes have massive sinusoidal dilation, containing histiocytes positive for S-100 and CD68, and negative for CD1a. Most patients do not require treatment as spontaneous remissions are observed. We present a brief review of the literature and the case of a six-year-old boy with cervical lymphadenopathy diagnosed with RDD. So far, the patient has not required systemic treatment and has been kept under observation.
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Project description:Objective:Acromegaly is a classic endocrine disorder caused by a growth hormone (GH)-secreting pituitary adenoma in an overwhelming majority of patients. The diagnosis may be delayed by several years due to the slow growing and insidious nature of the disease. Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by multiple renal cysts and various other systemic manifestations. The purpose of this article is to report a rare case of acromegaly with coexistent ADPKD. Methods:We report a case of 42-year-old female with acromegaly and ADPKD along with a brief review of literature. Results:The patient was referred to us for evaluation of progressive acral enlargement and coarsening of facial features. Endocrine evaluation confirmed the diagnosis of acromegaly due to an underlying GH-secreting pituitary macroadenoma. She was also found to have ADPKD. We discuss the clinical features and management of the patient. Conclusion:The association of pituitary adenomas and ADPKD is very rare and interesting. All affected individuals with pituitary adenomas and ADPKD in the literature are women. Furthermore, all reported pituitary adenomas in these individuals (including ours) are functional GH-secreting ones. These findings argue against a mere chance association between the two diseases.
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Project description:Introduction:Holt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects, some anatomical deformities in the upper limb and conduction abnormalities. Sequence alteration of TBX5 gene located on chromosome 12 has associated with HOS. Case report:We present the case of a 26-year-old female with known upper limb alteration and ventricular septal defect who later in life developed Crohn's disease. Conclusion:To the best of our knowledge association of Holt-Oram syndrome with Crohn's disease has not been reported in literature before. Therefore, a possible genetic connection between Holt-Oram syndrome and Crohn's disease remains to be determined.
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Project description:Background:Primary peritoneal ependymoma is an exceedingly rare tumour with only four cases reported in the literature. It typically follows an indolent disease course. We describe a rare case of metastatic primary peritoneal ependymoma which was treated with chemotherapy and radiotherapy resulting in prolonged survival to date for 10 years. Case Presentation. The patient was a 23-year-old female on presentation. She presented with right upper quadrant pain associated with an abdominal mass. Computed tomography demonstrated a large mass displacing the liver. Debulking surgery was done revealing a tumour arising from the peritoneum as well as multiple metastatic pleural and peritoneal nodules. Pathology was consistent with primary peritoneal ependymoma. The patient was then treated with multiple lines of chemotherapy containing etoposide as the backbone. She also received palliative radiotherapy to the thoracic metastases with good and durable response. Conclusion:We reported a rare case of metastatic primary peritoneal ependymoma. Etoposide containing the chemotherapy regimen is effective in the treatment of peritoneal ependymoma. Radiotherapy is also effective for palliation of local symptoms with durable response.
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Project description:IntroductionJejunogastric intussusception following gastrectomy or gastric bypass surgery is a rare complication that, if not identified early, can have catastrophic outcomes.Presentation of caseIn this case, a 59-year-old male with a previous Billroth II gastrojejunostomy presented with intussusception of the efferent loop of jejunum through his previous repair.DiscussionAs there has only been approximately 300 reported cases of this complication, it often does not rank high as a differential diagnosis. Early detection of jejunogastric intussusception by maintaining a high level of suspicion is critical in reducing morbidity and mortality associated with this complication. This can be achieved by following the appropriate steps to diagnosis and choosing the appropriate treatment modality.ConclusionPresentation of the case and a review of the literature is critical to make surgeons aware of this rare complication.
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Project description:Hemangiomas of the rib are extremely rare benign neoplasm. Here we present a case in a 47-year-old female, detected by chest X-ray and underwent a surgical resection. Histologically, the tumor was composed of a homogeneous conglomerate, irregular, thin walled and dilated blood vessels containing red blood cells, supported by fibrous stroma and intermingled to regular bone trabeculae. The postoperative courses were uneventful, and there was no recurrence during 64 months follow-up.
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Project description:Renal leiomyosarcomas (LMS) are extremely rare neoplasms with aggressive behaviour and poor survival prognosis. The most frequent somatic events in leiomyosarcomas are mutations in TP53, RB1, ATRX and PTEN genes, chromosomal instability and chromoanagenesis. By using chromosomal microarray analysis we identified monosomy of chromosomes 3 and 11, gain of Xp (ATRX) arm and three chromoanasynthesis regions (6q21-q27, 7p22.3-p12.1 and 12q13.11-q21.2), with MDM2 and CDK4 oncogenes copy number gains, whereas no CNVs or tumor specific SNVs in TP53, RB1 and PTEN genes were observed.
2020-06-04 | GSE151766 | GEO