UNASSIGNED: Hereditary transthyretin amyloidosis (ATTRv) is an autosomal-dominant disorder, where a TTR mutations lead to amyloid fibril deposits in tissues and consecutively alter organ function. ATTRv is a multisystemic disorder with a heterogeneous clinical presentation. Spinal leptomeningeal depositions are described only scarcely in the literature.
UNASSIGNED: We present a rare case of surgically treated intradural, extra-medullary amyloidosis with respective clinical, diagnostic and surgical features to raise awareness of this rare entity.
UNASSIGNED: Clinical, radiological and operative characteristics were retrieved from the electronical patient management system. Additionally, a scoping literature review on leptomeningeal spinal manifestations of ATTRv was performed.
UNASSIGNED: A 45-year-old man with a known ATTRv presented with gait disturbance and paresis of the lower extremities. He had been treated with the siRNA therapeutical Patisiran for 13 months under which his symptoms worsened. An MRI of the spine revealed spinal cord compression with myelopathy at the level of T2 with anterior dislocation of the spinal cord due to an intradural, extramedullary lesion. A laminectomy and opening of the dura with a complete resection of the lesion was performed. The histological examination of the biopsy showed amyloid deposits. At six-month follow-up the patient showed complete normalization of the paresis, gait, sensory and urinary disturbances and resumed his work.
UNASSIGNED: Spinal leptomeningeal deposition of amyloid is a rare occurrence within the framework of ATTRv. Micro-neurosurgical complete resection of the lesion is feasible in patients with preoperative myelopathic symptoms and resulted in complete symptom relief in this case.

暂无摘要。

Spinal cord involvement of Wilms\' tumour is rare. A 14-year-old girl presented with an abdominal mass, paraplegia and loss of bladder and bowel control. Radiological investigations confirmed the presence of a large intraabdominal mass with infiltration into the spinal canal with impingement of nerve roots and the spinal cord. Histopathological evaluation demonstrated a nephroblastoma. It was decided to commence prompt neoadjuvant chemotherapy to render the tumour amenable to surgical resection. The patient unfortunately demised before receiving her first dose. Early diagnosis and timeous initiation of treatment is critical in limiting morbidity and mortality associated with malignant spinal cord compression.

UNASSIGNED: The ossifying fibromyxoid tumor of soft tissue is a rare tumor of intermediate differentiation and uncertain lineage that occurs in adults mostly in the extremities and the trunk.
UNASSIGNED: we present a case of 57 year-old man presenting with a right scapular mass. It was a subcutaneous and painless mass that was largely excised. The diagnosis of ossifying fibromyxoid tumor of the right shoulder was made. The follow up of 1 year was without recurrence and metastasis.
UNASSIGNED: The ossifying fibromyxoid tumor of soft tissue is exceptional, microscopic diagnosis and management is challenging, considering the scarcity of the tumor.
UNASSIGNED: More cases and retrospective studies are needed to understand the pathogenesis and to determine optimal treatment regimens.

暂无摘要。

UNASSIGNED: Solitary fibrous tumour/haemangiopericytoma (SFT-HPC) is a rare fibroblastic mesenchymal neoplasm that develops as a result of the uncontrolled proliferation of mesenchymal fibroblasts and occurs rarely during pregnancy.
UNASSIGNED: A 26-year-old woman (G2P1) with an intrauterine pregnancy at 34+4weeks presented at a university hospital with a history of nausea and vomiting since 20 weeks. Other symptoms included slight headache and 5-kg weight loss. She had attended and been admitted to several hospitals during that time. Laboratory evaluation revealed evidence of hepatic dysfunction with elevated liver enzymes. The patient\'s headache worsened, and magnetic resonance imaging (MRI) showed an extra-axial mass in the right tentorial and supratentorial spaces, with brain herniation. Caesarean section and brain tumour resection were performed under general anaesthesia at the same time. Histopathological analysis revealed HPC (World Health Organization [WHO] grade III). Nausea and vomiting symptoms gradually improved. Postoperatively, the patient underwent fractional external radiotherapy (total amount 50 Gy). There was no evidence of local recurrence of metastases in the follow-up 6 months after surgery.
UNASSIGNED: Nausea and vomiting are commonly experienced during pregnancy. This often makes patients ignore other aetiologies that cause nausea and vomiting. Central nervous system tumours can mimic the common pregnancy complaint of nausea and vomiting. Although rare in pregnancy, they can adversely affect maternal and fetal survival if untreated. Clinicians should exclude other pathology when the onset of nausea and vomiting is after the first trimester.

Osteoclastic giant cell tumor of the pancreas is a rare aggressive tumor, counting for 2-7% of all pancreatic cancers. Surgery is considered the most appropriate treatment. We report a case of a 84-year-old man with incidentally detected 11cm tumor in the pancreatic tail and another 6 cm tumor located in the jejunum on abdominal computed tomography. The patient underwent distal pancreatectomy with splenectomy along with segmental resection of the tumor bearing part of the jejunum. On histological examination, osteoclast-like giant cells with some areas of metaplastic bone were observed which confirmed the diagnosis of osteoclastic tumor of the pancreas. The jejunal tumor was strongly c-kit positive on immunohistochemistry which confirmed the diagnosis of GIST. On the last follow up at 2 years after surgery, there is no evidence of recurrence or distant metastasis. Pancreatic OGCT has a better prognosis after resection than pancreatic adenocarcinoma. Its co-existence jejunal GIST, as seen in the index case, has not been reported in the English literature till date.

暂无摘要。

Background: Lhermitte-Duclos disease (LDD) stems from the development of a rare benign lesion of uncertain pathogenesis that distorts the normal cerebellar laminar cytoarchitecture. We explored the lesion\'s appearance on conventional magnetic resonance imaging (MRI) combined with susceptibility-weighted imaging, diffusion-weighted imaging, perfusion imaging, or arterial spin labeling. Although many cases of LDD have been previously reported in the literature, the radiologic-pathologic correlation has been described in only a few of these cases. To the best of our knowledge, this is the first case report to provide detailed information about the radiologic-pathologic correlation of LDD. Case Report: A 48-year-old woman presented with left facial tics, occipital headache, and dizziness for 1 month. MRI revealed a left cerebellar lesion with hypointensity on T1-weighted images. On T2-weighted images, the mass was hyperintense with tigroid appearance due to alternating high and normal signal intensities. High signal intensity was noted on fluid-attenuated inversion recovery images. Magnetic resonance spectroscopy indicated decreased level of choline (Cho), N-acetyl aspartate, and myoinositol with elevated level of lactate on the affected side. The lesion showed a bright signal on diffusion-weighted images, whereas apparent diffusion coefficient mapping revealed no disturbance of diffusion. The pathology of the excised lesion was consistent with LDD. Conclusion: MRI with advanced techniques can provide not only preoperative diagnosis but also better pathologic correlation.

Calcifying pseudoneoplasms of the neuraxis (CAPNON) are rare pathological lesions that can present anywhere in the central nervous system. Symptoms vary depending on the location, though they often include seizures, especially in intracranial and supratentorial lesions. A case of intracranial supratentorial CAPNON presenting with drug-resistant left temporal lobe epilepsy is reported. The patient had a history of drug-resistant focal seizures for over 36 years. The lesion was located in the left mesial temporal lobe, but hippocampal sclerosis and hippocampal invasion were not apparent. The lesion was removed without hippocampectomy, and the patient has been seizure-free for one year.