Cases reported "Rare Diseases"

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1/19. Mucosa-associated lymphoid tissue lymphoma of the thymus resected using combined thoracoscopic and transcervical approaches.

    Mucosa-associated lymphoid tissue (MALT) lymphoma is a low-grade variant of B cell lymphoma that arises in extranodal tissue of the gastrointestinal tract, lung, salivary gland, thyroid, or other organ derived from the foregut. However, MALT lymphoma in the thymus is extremely rare. We report a case of thymic MALT lymphoma, extending to the neck, resected using combined thoracoscopic and transcervical approaches. To the best of our knowledge, thoracoscopic management of MALT lymphoma in the thymus has not previous been reported.
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2/19. Suppurative thyroiditis with gas formation.

    Acute suppurative thyroiditis with gas formation is very rare. A 70-year-old woman was admitted with dysphagia and fever. The clinical diagnosis of acute thyroiditis was supported by fine needle aspiration biopsy. X-ray examination showed gas collection within the soft tissue of the anterior neck and ultrasonography of the thyroid gland showed a cavity filled with thick liquid. The patient was treated with antibiotic therapy followed by thyroidectomy.
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3/19. salmonella retropharyngeal abscess in a child: case report and literature review.

    retropharyngeal abscess is a rare but serious disease in children. salmonella species are uncommon causative agents of deep neck infections. We present the clinical course of a 10-year-old boy with a retropharyngeal abscess caused by salmonella lomita and review 18 previously published cases.
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4/19. Extramedullary sarcoid lesion mimicking intraspinal tumor.

    BACKGROUND CONTEXT: Spinal sarcoidosis is rare. Most spinal sarcoid lesions are intramedullary, and only three cases of extramedullary sarcoid lesions have been reported. PURPOSE: To describe a case of an extramedullary sarcoid lesion in a patient that did not have systemic involvement and to review the literature of spinal sarcoidosis. STUDY DESIGN/SETTING: Case report and review of the literature. PATIENT SAMPLE: Case report. OUTCOME MEASURES: Report of resolution of symptoms. methods/DESCRIPTION:The patient was a 33-year-old woman who had neck pain and pain radiating to the right scapula area and down the right arm into her hand and wrist. She also complained of numbness, tingling, muscle spasms and tremors, and had difficulty with writing. magnetic resonance imaging showed a mass that was extramedullary in the right lateral aspect of the spinal canal at the level of C5 and extending into the right C5-6 neuroforamen. Admitting diagnosis of neurofibroma was made. The patient underwent C4, C5 and C6 laminoplasty and gross total resection of an intradural extramedullary tumor. The lesion encroached on the neuroforamen on the right side involving the C6 nerve root, was grossly adherent to some of the rootlets and looked like a Schwannoma. Gross total resection of the tumor was performed. Pathological examination of the specimen showed a noncaseating granulomatosis consistent with sarcoid. Postoperative testing did not reveal systemic involvement of sarcoidosis. The patient was treated with corticosteroids. RESULTS: The patient made a satisfactory recovery, returned to work full-time, and had no complaints of neurological symptoms. CONCLUSIONS: An extramedullary sarcoid lesion is rare. Unlike intramedullary sarcoid lesions, it can be totally removed. If no systemic sarcoidosis is present, the patient can have a satisfactory recovery.
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5/19. Successful surgical management of a case of spontaneous epidural hematoma of the spine during pregnancy.

    BACKGROUND CONTEXT: A spontaneous epidural hematoma of the spine occurring during pregnancy is extremely rare. The development of a significant neurologic deficit may be rapid. Therefore, the neurosurgeon should be aware of the presentation, diagnosis and treatment options available. PURPOSE: The authors report a case of a spontaneous epidural hematoma of the spine during the third trimester of pregnancy, which was successfully managed with surgical evacuation. The case is unique in that the patient demonstrated a subacute presentation. STUDY DESIGN: The authors report a case of a 27-year-old primagravada presented with the subacute onset of progressive paraparesis. She became nonambulatory before admission. A magnetic resonance imaging study (MRI) demonstrated ventral epidural compression in the upper thoracic region. methods: A retrospective review of a case of spontaneous epidural hematoma of the spine during pregnancy was performed. The inpatient and outpatient charts were used to gather clinical information of the case, and the pertinent radiographs and images were reviewed. RESULTS: An urgent cesarean section was performed followed by evacuation of the epidural hematoma. The decompression was performed by means of a thoracic laminectomy with partial facetectomy. The patient had a prompt return of neurologic function. CONCLUSION: Spontaneous epidural hematoma of the spine should be suspected in the setting of acute back or neck pain with or without an associated progressive neurologic deficit. spine surgeons and obstetricians should also recognize that a spinal epidural hematoma during pregnancy may also present subacutely, as illustrated in our case. Prompt diagnosis may be made with MRI, and evacuation of the hematoma should be performed, ideally before the onset of neurologic signs or symptoms. The prognosis for return of neurologic function is good after urgent evacuation.
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6/19. Synovial chondromatosis of the hip: a case report and clinicopathologic study.

    Primary synovial chondromatosis (PSC) is a rare, usually monoarticular disorder of synovial joints. PSC is characterised by the formation of osteocartilaginous nodules in the synovial connective tissue. We report the case of a 32-year-old male with PSC of the left hip. At clinical examination abduction of the left hip was limited and rotation was painful. Ultrasound examination of the hip revealed joint effusion and multiple hyperechogenic foci due to distal acoustic shadowing. Plain radiographs showed a slight soft tissue swelling around the femoral neck and multiple round or ovoid calcifications of a uniform size. MRI revealed a large joint effusion with multiple small filling defects. Open total synovectomy was performed after dislocation of the femoral head. The diagnosis of PSC was confirmed by histological examination of the excised material. The majority of cells failed to exhibit any staining for cerb B-2 and ki-67. None of the sections showed more than 5% labelling for dna-fragmentation proven by terminal deoxytransferase-mediated dUTD nick-end labeling (TUNEL), and all were completely non-reactive for p53 as well. In conclusion, immunohistochemical analysis suggests that in this case PSC originated from metaplasia and not from a proliferative process. After two years, the patient was free of symptoms and radiological control did not show evidence of recurrence or femoral head necrosis. Physical findings, diagnosis, histological features and management of PSC are discussed.
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7/19. Maxillary haemangiopericytoma: a case report.

    BACKGROUND: Haemangiopericytoma is a very rare slow-growing vascular tumour with a variable malignant potential, constituting less than 1% of all neoplasms. It may arise from any blood vessel and in any organ of the body. Primary haemangiopericytoma of bone is even rarer, constituting about 0.1% of bone tumours. The tumour is extremely rare in Africans and particularly in the head and neck region. STUDY DESIGN: We describe the case of a 66-year old Nigerian with haemangiopericytoma of the maxilla, who presented with a recurrent but painless jaw mass. RESULTS: Surgical resection of this tumour is potentially bedevilled with the risk of torrential haemorrhage and high rate of recurrence. This risk may be substantially reduced by wide surgical resection with a careful microscopical examination of the resection margins and the institution of adjuvant radiotherapy in incompletely resected tumours. Chemotherapy has no known role in the management of haemangiopericytoma. Postoperative radiation therapy appears to be effective against tumour recurrence. CONCLUSION: Even then, long-term follow-up is essential in all cases. To our knowledge, this is the first report of this entity in an African.
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8/19. Two cases of multiple eccrine spiradenoma with linear or localized formation.

    We report two rare cases of recurrent, multiple eccrine spiradenoma. Both cases presented with extensive lesions comprised of multiple red papules of various sizes and a soft blue-red nodule. The first case was a 30-year-old woman. Her lesions followed a linear arrangement on her chin, and extended down the right side of the neck with spontaneous pain. The second case was a 57-year-old woman with tumors in a localized group on the left occipital region without pain. A search of the literature revealed only 15 reported cases of linear/zosteriform/nevoid multiple eccrine spiradenoma. Both cases were treated by surgical excision. Most of the red papules displayed typical histological features including two cell types: large clear cells with low-density cytoplasm; and small dark cells with high-density cytoplasm. The large soft tumors exhibited a variable histological appearance. In the first case, the cystic tumors displayed an homogeneous structure comprised of eosinophilic material. In the second case, the cystic tumors included abundant interstitial tissue.
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9/19. Intravenous pyogenic granuloma or intravenous lobular capillary hemangioma.

    Lobular capillary hemangioma is a vascular neoplasm that commonly occurs as a cutaneous tumor. When it involves the skin and mucosal surfaces, ulceration and suppuration may occur, hence the classic term of pyogenic granuloma. Intravenous pyogenic granuloma is a rare solitary form of lobular capillary hemangioma that usually occurs in the veins of the neck and upper extremities. We report the ultrasonographic and magnetic resonance imaging findings of a pyogenic intravenous granuloma localized in the right cephalic vein. The imaging and pathological findings and the differential diagnoses are discussed.
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10/19. An unusual form of Riedel's thyroiditis: a case report and review of the literature.

    We report the case of a 36-year old woman with a history of long-term fever associated with a biologic inflammatory syndrome that was not corrected by several courses of corticosteroid treatment. The only remarkable result during previous investigations was the presence of a positive Epstein-Barr virus (EBV) serology. Clinical examination revealed an heterogenous thyroid with a nodule on the right lobe. serum thyrotropin (TSH) concentration was normal. The levels of antiperoxidase antibodies and thyrocalcitonin were normal. Ultrasound examination of the neck showed a 3-cm hypoechogenous nodule in the right lobe of the thyroid. A total thyroidectomy was performed. Histopathologic findings led to the diagnosis of Riedel's thyroiditis. We observed a dramatic improvement after surgery with absence of fever and normalization of inflammatory parameters. The role of EBV infection in the process of this unusual form of Riedel's thyroiditis is discussed.
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