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Metabolic, immunohistochemical, and genetic profiling of a cerebellar liponeurocytoma with spinal dissemination: a case report and review of the literature.
Hirono, S, Gao, Y, Matsutani, T, Ikeda, JI, Yokoo, H, Iwadate, Y
Brain tumor pathology. 2021;(3):257-262
Abstract
Cerebellar liponeurocytoma (cLNC), categorized as a World Health Organization grade II tumor, is a rare neoplasm characterized by advanced neuronal/neurocytic differentiation and focal lipid accumulation in neuroepithelial tumor cells. However, the expression and genetic profiling of cLNC have been poorly studied. A 44-year-old woman with a three-year history of cerebellar ataxia and numbness in lower extremities underwent radiological examination revealing multiple contrast-enhancing tumors at the floor of the fourth ventricle and in the lower vermis, and spinal dissemination. The high uptake of 11 C-methionine in positron emission tomography (Met-PET) supported the preoperative cLNC diagnosis. Subtotal removal of the tumor around the obex and inferior vermis was performed. Histologically, the tumor was composed of small, uniform cells with round nuclei in a sheet-like fashion. Tumor cells were diffusely reactive for the neuronal markers synaptophysin and neurofilament. Vacuolate cells with a displacement of nuclei suggested the accumulation of lipid, which was further supported by immunohistochemical staining of S-100. These findings confirmed the diagnosis of cLNC. Next-generation sequencing of tumoral DNA detected a splice site mutation in the ATRX gene. Further reports of cLNC cases with detailed expression and genetic profiles are essential for precise diagnosis and clarifying the oncogenic pathway in cLNC.
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Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.
Toldo, I, Nosadini, M, Boscardin, C, Talenti, G, Manara, R, Lamantea, E, Legati, A, Ghezzi, D, Perilongo, G, Sartori, S
Metabolic brain disease. 2018;(3):805-812
Abstract
A homoallelic missense founder mutation of the iron-sulfur cluster assembly 2 (ISCA2) gene has been recently reported in six cases affected by an autosomal recessive infantile neurodegenerative mitochondrial disorder. We documented a case of a 2-month-old girl presenting with severe hypotonia and nystagmus, who rapidly deteriorated and died at the age of three months. Increased cerebral spinal fluid level of lactate, documented also at the brain spectroscopy, involvement of the cortex, restricted diffusion of white and gray matter abnormalities, sparing of the corpus callosum and extensive involvement of the spinal cord were observed. Her clinical presenting features and course as well as some neuroradiological findings mimicked those of early-onset leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate (LBSL). The analysis of the mitochondrial respiratory chain function showed a reduced activity of complexes II and IV. The girl harboured two heterozygous mutations in the ISCA2 gene. A comprehensive review of the literature and a comparison with the cases of early onset LBSL enabled us to highlight significant differences in the clinical, biochemical and neuroradiological phenotype between the two conditions, which also emerged from the comparison with the other 6 reported cases of ISCA2 gene mutation previously reported. In summary, this represents the second report ever published associating ISCA2 gene mutation with a mitochondrial leukoencephalopathy, with a different genetic mechanism to the previous cases. Molecular analysis of ISCA2 should be included in the genetic panel for the diagnosis of early onset mitochondrial leukoencephalopathies.
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Neurological symptoms and spinal cord embolism caused by endoscopic injection sclerotherapy for esophageal varices: A case report and literature review.
Liu, S, Wu, N, Chen, M, Zeng, X, Wang, F, She, Q
Medicine. 2018;(18):e0622
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Abstract
RATIONALE Spinal cord embolism is a rare complication of endoscopic injection sclerotherapy (EIS). PATIENT CONCERNS We report a case of a 56-year-old man who presented neurological symptoms and spinal cord embolism caused by EIS on esophageal varices. Clinical signs and symptoms, laboratory tests, thoracic magnetic resonance imaging (MRI), and related treatment supported its diagnosis. DIAGNOSES spinal cord embolism. INTERVENTIONS We stopped the hemostatic and anti-coagulation treatment, and switched to nerve nutrition, microcirculation, and hormone therapy, along with administering gastric mucosal protective agents. OUTCOMES The all patient's signs and symptoms and signs of spinal cord embolism were all relieved within 3 months after the clinical treatment. LESSONS We recommend that neurological symptoms after EIS in patients with esophageal varices should be considered a rare complication. Life-threatening conditions could be avoided by an accurate and timely diagnosis.
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[Treatable Dementia due to Vitamin B12 and Folate Deficiency].
Yoshizawa, T
Brain and nerve = Shinkei kenkyu no shinpo. 2016;(4):407-20
Abstract
Vitamin deficiency is one of the major causes of treatable dementia. Specifically, patients suffering from dementia frequentry display low serum levels of vitamin B(12). There is a close metabolic interaction between folate and vitamin B(12). Folate deficiency causes various neuropsychiatric symptoms, which resemble those observed in vitamin B(12) deficiency. This review summarizes, the basic pathophysiology of vitamin B(12) and folate deficiency, its clinical diagnosis, associated neuropsychiatric symptoms such as subacute combined degeneration and dementia, and epidemiological studies of cognitive decline and brain atrophy.
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Multicystic demyelinating myelopathy: widening spectrum of pediatric aquaporin-4 autoimmunity.
Longoni, G, Bigi, S, Branson, HM, Hawkins, C, Rutka, JT, Filippi, M, Yeh, EA
Neurology. 2014;(10):902-3
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Abstract
A 10-year-old girl presented with subacute lower limb weakness and gait ataxia. MRI revealed a large multicystic spinal cord lesion with patchy enhancement (figure 1, A–B) and 3 small (<6 mm) periventricular and deep white matter brain lesions. The presence of serum anti-aquaporin-4 immunoglobulin G (AQP4) (ELISA assay) and compatible neuropathologic features from neurosurgical specimens1 (figure 2) suggested the diagnosis of a neuromyelitis optica spectrum disorder.2 Targeted immunotherapy was started with partial lesion resolution (figure 1C).
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[A case of subacute combined degeneration of the spinal cord diagnosed by characteristic findings of magnetic resonance imaging: case report and review of 22 cases].
Morishita, A, Tomita, H, Takaishi, Y, Nishihara, M, Kohmura, E
No shinkei geka. Neurological surgery. 2005;(5):489-95
Abstract
Subacute combined degeneration (SCD) is a rare cause of demyelination of the dorsal and lateral columns of the spinal cord, and is a neurogenic complication due to vitamin B12 deficiency. This report concerns a patient with progressive sensory disturbance, but no abnormal neurological findings. A 73-year-old man with gastrectomy presented with a 6-month history of gradually worsening tingling in both hands. Magnetic resonance imaging (MRI) of the cervical spine clearly showed symmetrical high-signal areas on T2WI involving the posterior columns of the cervical cord from C2 through C6. A diagnosis of SCD of the spinal cord was considered and confirmed by laboratory findings. The patient was treated with vitamin B12 supplements and showed gradual improvement in his clinical symptoms. Repeat MRI of the cervical spine after 3 months indicated a slight decrease in the area of the abnormal signal. Among all the possible causes of myelopathy, SCD of the spinal cord, involving neurological complications due to vitamin B12 deficiency, is one of the less often encountered diseases. Nevertheless, SCD should be considered in the differential diagnosis of all spinal cord, peripheral nerve, and neuropsychiatric disorders.
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MRI in subacute combined degeneration of spinal cord: a case report and review of literature.
Srikanth, SG, Jayakumar, PN, Vasudev, MK, Taly, AB, Chandrashekar, HS
Neurology India. 2002;(3):310-2
Abstract
A 56 year old man presented with acute onset posterior column and lateral spinothalamic tract dysfunction over a period of 15 days. MRI showed diffuse hyperintensity on T2WI involving the posterior columns. A diagnosis of subacute combined degeneration (SCD) of the spinal cord was considered and confirmed by laboratory findings. The patient showed complete recovery on B12 therapy. MRI lesion also compeletely resolved.
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[Contribution of magnetic resonance imaging in sclerotic combined degeneration of the spinal cord due to vitamin B12 deficiency].
Coignard, P, Lemesle, M, Madinier, G, Manceau, E, Osseby, G, Lucas, B, Baudouin, N, Martin, D, Giroud, M, Dumas, R
Revue neurologique. 2000;(11):1000-4
Abstract
Subacute combined degeneration (SCD) of the spinal cord is known to present histopathologically degenerative lesions in the spinal cord, but few studies on the neuroradiological findings have so far been reported. We present the interest of initial and follow-up MR findings in three cases of SCD. In the three cases, a causal event precipitated the onset of neurological symptoms: general anesthesia for the first and the third one and folic acid treatment for the second one. Clinical evolution was favorable after specific treatment with nearly total recovery. The initial MR study disclosed lesions predominantly involving the posterior columns of the spinal cord: high intensity on T2 weighted image was seen in the initial MR study and disappeared three months after treatment in correlation with good recovery, but with a delay. The recognition of this MR pattern suggests that MRI may be used in conjunction with clinical assessment to confirm the diagnosis and to monitor the efficacity of treatment in SCD.
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[Postoperative combined medullary sclerosis revealing Biermer's disease: toxic effect of nitrous oxide].
Vinciguerra, C, Chazerain, P, Olivero de Rubiana, JP, Moulonguet, A, Ziza, JM
Revue neurologique. 2000;(6-7):665-7
Abstract
Combined medullary sclerosis developed suddenly postoperatively in a patient with unknown Biermer's disease. The neurological lesions were undoubtedly induced by nitrogen protoxide via an inactivation of vitamin B12.