Hydrocephalus and Papilledema in Spinal Cord Tumors: A Report of Two Cases.
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ABSTRACT:
SUBMITTER: Marzban AN
PROVIDER: S-EPMC5553482 | biostudies-other | 2016 Apr
REPOSITORIES: biostudies-other
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Project description:OBJECTIVE: The management of nonmalignant pain by morphine pump implantation has become an effective and increasingly frequent strategy of care. We report a rare complication of intrathecal granuloma formation adjacent to the intrathecal catheter tip resulting in spinal cord compression in four patients undergoing intrathecal treatment for chronic pain. METHODS: Four patients presented with chronic back pain and lower extremity pain and weakness and were treated with morphine pump implantation (Fig 1). Each patient developed a mass at the level of the intrathecal catheter tip resulting in increased back pain and diminished neurological function. Following clinical examination and x-ray workup, the patients underwent surgical resection of the mass and removal of the intrathecal catheter. One patient received conservative saline therapy first, and another patient had granuloma resection first and removal of the intrathecal catheter at a later date. Pathological analysis showed granulation tissue with extensive necrosis and chronic inflammation, with negative culture results. No evidence of neoplasm was found. RESULTS: Patients showed varying degrees of improvement following removal of the intrathecal mass. Two patients had moderate pain reduction following resection of the granuloma; a third had minimal pain improvement; and a fourth had significant pain improvement but continued lower extremity weakness. CONCLUSIONS: The formation of granulomas caused by intrathecal catheter implantation is a rare but serious complication. Imaging studies including magnetic resonance imaging with contrast and computed tomography with myelogram should be used to follow up a neurological examination consistent with spinal cord compression. Timely surgical intervention may result in marked improvement of symptoms.
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Project description:BackgroundDiffuse midline glioma with H3K27-altered (DMG-H3K27a) is a novel tumor entity of the pediatric-type diffuse high-grade tumor in the latest WHO CNS 5. It mostly affects children and is only rarely found in adults. The tumor has a high level of aggressiveness, with a rapid progression and bad prognosis. In adults, the spinal cord is the most common site of DMG-H3K27a. Rare adult cases of primary DMG-H3K27a in the spinal cord were reported in this study, together with clinico-histopathologico-radiographic data.MethodsFrom January 2016 to December 2020, we conducted a retrospective study of five adults with primary DMG-H3K27a in the spinal cord, analyzing their clinical, pathohistological, and radiographic datasets from the first diagnosis to follow-up.ResultsAll five patients were diagnosed for the first time and were given full treatment. In three of the five patients, post-operative follow-up revealed tumor recurrence. The longest survival of the five patients was 45 months at the time of report submission, while the longest progression-free survival (PFS) following surgery was 20 months. Immunohistochemical studies showed the tumors featured aggressive behavior (grade 4) and were positive for the H3K27M mutation. The radiographic appearances were varied, but they were all initially mistaken as benign. DMG-H3K27a in the spinal cord was characterized by isointense/hyperintense on T1WI and isointense/hyperintense on T2WI, as well as cystic necrosis and peripheral spinal cord edema, as well as central canal enlargement and other types of enhancement.ConclusionThis is the first case report focusing on adult DMG-H3K27a of the pediatric-type diffuses high-grade gliomas in the spinal cord. In our cases, we discovered the following: 1) adults had a better prognosis with a longer PFS compared with prior pediatric reports; 2) despite aggressive behavior under the microscope, radiographic appearances of the tumors were less aggressive; and 3) adjuvant treatment, including TCM, may have played a role in the prognosis.
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Project description:Hyperhomocysteinemia (HHcy) has been recognized as an independent risk factor for atherosclerotic vascular disease. Here we report a patient who suffered from spinal cord demyelination combined with HHcy. The patient was admitted to our hospital with a diagnosis of acute myelitis. However, hormone therapy was ineffective. Further investigations revealed that he had HHcy and a homozygous mutation of the gene encoding methylenetetrahydrofolate reductase (MTHFR) c.677C>T, which is a key enzyme involved in homocysteine metabolism. In view of these findings, we treated the patient with B vitamins and his symptoms gradually improved. Spinal magnetic resonance imaging performed 3 months after onset showed near recovery of the lesion. To our knowledge, similar reports are rare.
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Project description:Study Design Broad narrative review. Objectives Intramedullary spinal cord tumors (IMSCT) are uncommon lesions that can affect any age group or sex. However, numerous IMSCT exist and the clinical course of each tumor varies. The following article addresses the various management options and outcomes in patients with IMSCT. Methods An extensive review of the peer-reviewed literature was performed, addressing management options and clinical outcomes of patients with IMSCT. Results Early diagnosis and intervention are essential to obtain optimal functional outcome. Each IMSCT have specific imaging characteristics, which help in the clinical decision-making and prognostication. A comprehension of the tumor pathology and the clinical course associated with each tumor can allow for the proper surgical and nonsurgical management of these tumors, and reduce any associated morbidity and mortality. Recent advances in the operative management of such lesions have increased the success rate of tumor removal while minimizing iatrogenic-related trauma to the patient and, in tandem, improving patient outcomes. Conclusions Awareness and understanding of IMSCT is imperative to design proper management and obtain optimal patient outcomes. Meticulous operative technique and the use of surgical adjuncts are essential to accomplish proper tumor removal, diminish the risk of recurrence, and preserve neurologic function. Operative management of IMSCT should be individualized and based on tumor type, location, and dimensional extensions. To assist with preoperative and intraoperative decision-making, a general algorithm is provided.
| S-EPMC4771497 | biostudies-other
Project description:Study Design Broad narrative review. Objectives Intramedullary spinal cord tumors (IMSCT) are rare neoplasms that can potentially lead to severe neurologic deterioration, decreased function, poor quality of life, or death. As such, a better understanding of these lesions is needed. The following article, part one of a two-part series, addresses IMSCT with regards to their epidemiology, histology, pathophysiology, imaging characteristics, and clinical manifestations. Methods The authors performed an extensive review of the peer-reviewed literature addressing the aforementioned objectives. Results Numerous IMSCT exist with varying epidemiology. Each IMSCT has its own hallmark characteristics and may vary with regards to how aggressively they invade the spinal cord. These lesions are often difficult to detect and are often misdiagnosed. Furthermore, radiographically and clinically, these lesions may be difficult to distinguish from one another. Conclusions Awareness and understanding of IMSCT is imperative to facilitate an early diagnosis and plan management.
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Project description:Hypofibrinogenemia is an uncommon bleeding disorder. Two siblings with mild bleeding diathesis were investigated and diagnosed as suffering from this disorder. The cases are discussed keeping in view of their rarity.
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Project description:The objective of the study was to compare gene expression across SMA cases and postnatal controls in spinal cord, diaphragm and iliopsoas tissues. This dataset was used in the testing of the GENDULF algorithm.
2020-10-23 | GSE159642 | GEO
Project description:Background and importanceIdiopathic spinal cord herniation (ISCH) is an uncommon condition located predominantly in the thoracic spine and often associated with a remote history of a major traumatic injury. ISCH has an incompletely described presentation and unknown etiology. There is no consensus on the treatment algorithm and surgical technique, and there are few data on clinical outcomes.Clinical presentationIn this case series and technical report, we describe the atypical myelopathy presentation, remote history of traumatic injury, radiographic progression, treatment, and outcomes of 5 patients treated at Washington University for symptomatic ISCH. A video showing surgical repair is presented. In contrast to classic compressive myelopathy symptomatology, ISCH patients presented with an atypical myelopathy, characterized by asymmetric motor and sensory deficits and early-onset urinary incontinence. Clinical deterioration correlated with progressive spinal cord displacement and herniation observed on yearly spinal imaging in a patient imaged serially because of multiple sclerosis. Finally, compared with compressive myelopathy in the thoracic spine, surgical treatment of ISCH led to rapid improvement despite a long duration of symptoms.ConclusionSymptomatic ISCH presents with atypical myelopathy and slow temporal progression and can be successfully managed with surgical repair.
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Project description:Rosette-forming glioneuronal tumour (RGNT) of the IV ventricle is a very recent entity, recognized in the latest WHO classification of Central Nervous System Tumors. It is composed by two distinct features: a glial component, with typical characteristics of pilocytic astrocytoma, and a component forming neurocytic rosettes, with eosinophilic regions positive for synaptofisin and/or perivascular rosettes. Herein, we describe a 33-year-old man with RGNT arising in a peculiar location, namely the spinal cord. We further performed an extensive immunohistochemistry and molecular analysis, using array-CGH (aCGH), whole exome and cancer-related hotspot sequencing, in order to better understand its underlying biology. The histology revealed a WHO grade I RGNT typically found in the fourth-ventricle. Immunoreactivity for synaptophysin and neurofilament protein was noted in the neurocytic component, whereas the glial component exhibited positivity for GFAP and S-100. Neurocytic component was found negative for GFAP. Mitoses were rare, and there was no necrosis present. Across all mutational analyses, there were detected somatic mutations in 4 genes: MLL2, CNNM3, PCDHGC4 and SCN1A. The tumor exhibited a microsatellite stable (MSS) phenotype. Array-CGH (aCGH) showed loss in 1p and gain of 1q, as well as gain of the whole chromosomes 7, 9 and 16. Moreover, we observed focal gains/losses in the chromosomes 1, 2, 3, 6, 7, 11, 14, 17, 22 and 23. Local amplifications in 9q34.2 (region with no genes mapped) and 19p13.3 (region encompassing the gene SBNO2) were identified. Additionally, we verified the KIAA1549-BRAF fusion, typically found in pilocytic astrocytomas, through aCGH, RT-PCR and FISH. Our comprehensive molecular profiling of a RGNT case suggests the existence of a unique genetic pathway for the development of these tumors: KIAA1549-BRAF fusion is a possible driver by constitutively activating MAPK pathway, and MLL2 mutation may lead to profound changes in the methylome. Taken together, these mechanisms may increase survival and/or tumorigenic capacity of cells, leading to the development of this rare entity. Two-color Agilent 8x60K array CGH (aCGH) was performed in the rosette-forming glioneuronal tumour (CY3) and reference DNA (CY5 - DNA extracted from leucocytes of the patient).
2015-07-13 | E-GEOD-64891 | biostudies-arrayexpress