Esclerosis bilateral de huesos largos: enfermedad de Erdheim-Chester. Reporte de un caso / Bilateral long bone sclerosis: Erdheim-Chester disease. Case report

La enfermedad de Erdheim-Chester (EEC) es una patología poco frecuente, caracterizada por presentar infiltración xantogranulomatosa sistémica, con afección de diversos sistemas incluido el óseo. La EEC se encuentra descripta dentro de las enfermedades osteocon-densantes (EO), las cuales se reconocen por presentar aumento de la masa ósea y compromiso tanto de huesos largos como planos. La presentación clínica de la EEC es variada: puede presentar desde un curso indolente hasta manifestaciones multisistémicas. Las características radiológicas son de gran importancia para establecer su diagnóstico. Presentamos una paciente con EEC, con esclerosis bilateral de huesos largos, que exhibe algunas características diferenciales con relación a otros casos reportados: a) afectación exclusivamente ósea a 10 años de evolución, b) compromiso bilateral y simétrico de distinta magnitud, c) esclerosis cortical endóstica y perióstica, d) signos radiológicos sugestivos de periostitis, d) ausencia de compromiso metafisario, e) ausencia de actividad metabólica de las lesiones en las imágenes de 18F-FDG PET/CT.Conclusión: la presencia de lesiones osteocondensantes bilaterales exclusivamente en huesos largos deben hacer sospechar EEC. La ausencia de compromiso metafisario y de actividad metabólica en 18F-FDG PET/CT ha sido raramente descripta. (AU)

Erdheim - Chester disease (ECD) is a rare disease, characterized by systemic xanthogranulomatous infiltration, with involvement of various organs including bone. ECD is described within the sclerosing bone disorders, which are recognized for presenting increased bone mass and involvement of both long and flat bones. The clinical presentation of ECD is diverse, ranging from an asymptomatic course to multisystemic manifestations. Radiological features are of great importance to establish the diagnosis. We describe here a patient with ECD, with bilateral sclerosis of long bones that presents some differential characteristics in relation to other reported cases: a) exclusively bone involvement at 10 years of evolution, b) bilateral and symmetric involvement of different magnitude, c) endosteal and periosteal cortical sclerosis d) radiological signs suggestive of periostitis, d) absence of metaphyseal involvement, e) absence of metabolic activity of the lesions in 18F-FDG PET/CT.Conclusion: the presence of bilateral osteosclerosis exclusively in long bones should lead to suspect ECD. The absence of metaphyseal involvement and metabolic activity in 18F-FDG PET/CT have been rarely described. (AU)

Role of percutaneous CT-guided radiofrequency ablation in treatment of intra-articular, in close contact with cartilage and extra-articular osteoid osteomas: comparative analysis and new classification system.

PURPOSE: We investigated procedural safety, technical and clinical outcomes of the percutaneous image-guided radiofrequency ablation (PRFA) of intra-articular (IA), intra-articular close to cartilage (IACC), and extra-articular (EA) osteoid osteomas (OO). We proposed a new radiologic classification for osteoid osteoma depending on the degree and location of sclerosis which may correlate with technical failure and/or difficulties. MATERIAL AND METHODS: According to the inclusion criteria, we enrolled consecutive patients who were referred to the investigation center from June 2018 to January 2022. After clinical and CT imaging features were suggestive for the diagnosis of OO, all the patients were treated by percutaneous CT-guided RFA with a standardized technique. Biopsy of the lesion was not performed in all patients. A retrospective analysis was conducted to assess the procedure's technical, primary clinical, and secondary clinical successes, recurrence rate, and complications. We classified all the OOs according to a new proposed classification of the site and the amount of sclerosis. RESULTS: A total number of 55 patients were enrolled in our study according to the inclusion criteria. The mean age of the enrolled patients was 24.07 ± 14.71 years (ranges from 7 to 57 years). The M/F ratio was roughly 2:1. The mean follow-up was 20.18 ± 12.60 months (ranges from 2 to 44 months). EA group included 36 patients, IA included 5 and IACC included 14 patients. Technical success was achieved in all cases of IA and IACC groups. Technical success in the EA group was 97.22% (1 technical failure). Primary clinical success was 100%, 92.85%, and 91.66% for IA, IACC, and EA groups, respectively. Accordingly, the recurrence rate was 5.88% in EA, and 7.14% in IACC, while no recurrence occurred in the IA group. No complications occurred. The secondary success rate of the 3 cases of recurrence was 100%. CONCLUSIONS: PRFA proved to be a safe procedure with a high rate of success for OO treatment even in intra-articular lesions in close contact with cartilage. This study showed that the results in terms of technical and clinical success are comparable for IA OO, IACC OO, and EA OO, even if the recurrence rate was higher in EA OO. Our proposed new classification of the degree and location of sclerosis may correlate to technical failure, but further studies with a larger number of patients are needed for validation.

Hippocampal sclerosis and epilepsy surgery in neurofibromatosis type 1: case report of a 3-year-old child explored by SEEG and review of the literature.

PURPOSE: Epilepsy associated with neurofibromatosis type 1 (NF1) is infrequent and usually controlled with anti-epileptic drugs. However, in some drug-resistant patients a presurgical evaluation should be considered. Hippocampal sclerosis (HS) is one of the rare causes of epilepsy in neurofibromatosis type 1, which can lead to surgery. METHODS: We present a three-year-old child with refractory epilepsy associated with several structural brain abnormalities but normal hippocampi on brain MRI and a heterozygous variant in the NF1 gene (c.2542G > A). A complete presurgical evaluation was performed including stereo-electroencephalography (SEEG). RESULTS: Usual seizures were recorded, and the seizure onset zone was delineated in the anterior hippocampus. Pathological examination performed after a tailored mesio-temporal resection confirmed hippocampal sclerosis, and the child achieved seizure freedom with 2 years of follow-up. CONCLUSION: This rare pediatric case illustrates that NF1 may be associated with early-onset refractory epilepsy secondary to MRI-negative HS, supporting the major role of SEEG in the presurgical evaluation of patients with extended cortical malformations.

Tuberculosis lymphadenopathy: A rare etiology of the superior vena cava syndrome.

Superior vena cava syndrome is the clinical expression of the obstruction of the superior vena cava reducing the blood flow. Malignant etiologies are the most common. Its management is multidisciplinary and despite the progress of endovascular procedures, conventional surgery retains its place in certain indications. Mediastinal fibrosis secondary to tuberculosis lymphadenopathy may be associated with superior vena cava syndrome. In the presence of symptomatic SVCS associated with extensive mediastinal fibrosis compressing the superior vena cava with sub occlusive thrombosis, conventional surgery remains a treatment option, with cavo-venous derivation by prosthetic bypass.

A quantitative MRI index for assessing the severity of hippocampal sclerosis in temporal lobe epilepsy.

BACKGROUND: Hippocampal sclerosis (HS) is associated with post-surgery outcome in patients with temporal lobe epilepsy (TLE), and an automated method that quantifies HS severity is still lacking. Here, we aim to propose an MRI-based HS index (HSI) that integrates hippocampal volume and FLAIR signal to measure the severity of HS. METHODS: Forty-two pre-surgery TLE patients were included retrospectively, with T1-weighted (T1W) and FLAIR images acquired from each subject. Two experienced neurosurgeons (W.D. and C.S.) and one neurologist (Q.L.) rated HS severity with a four-class grading scale (normal, mild, moderate and severe) based on both hippocampal volume loss and increased FLAIR signal. A consensus of HS severity for each subject was made by voting among the three visual rating results. Regarding the automatic quantification, the hippocampal volume was quantified by AccuBrain on T1W image, and the FLAIR signal of hippocampus was calculated as the mean intensity of hippocampal region on the FLAIR image (normalized by the mean intensity of gray matter). To fit the HSI from visual rating, we applied ordinal regression with the voted visual rating as the dependent variable, and hippocampal volume and FLAIR signal as the independent variables. The HSI was calculated by weighting the predicted probabilities of the four-class grading scales from ordinal regression. RESULTS: The intra-class correlation coefficient (single measure) of the three raters was 0.806. The generated HSI was significantly correlated with the visual rating scales of the three raters (W.D.: 0.823, Q.L.: 0.817, C.S.: 0.717). HSI scores well differentiated the different HS categories as defined by the agreed HS visual rating (normal vs. mild: p < 0.001, mild vs. moderate: p < 0.001, moderate vs. severe: p = 0.001). CONCLUSIONS: The proposed HSI was consistent with visual rating scales from epileptologists and sensitive to HS severity. This MRI-based index may help to evaluate HS severity in clinical practice. Further validations are needed to associate HSI with post-surgery outcomes.

[Suspected hippocampal sclerosis in an european shorthair cat diagnosed with polycythemia vera]. / Verdacht auf Hippocampussklerose bei einer Europäisch-Kurzhaar-Katze mit der Diagnose Polycythaemia vera.

A 7-year-old male castrated cat was presented because of an acute onset of lethargy and vestibular ataxia. The cat was diagnosed with polycythemia vera. Later the patient developed additional clinical signs including orofacial twitching, aggressivity, hypersalivation, circling and a head tilt. A magnetic resonance imaging was performed and revealed hippocampal alterations compatible with hippocampal sclerosis. The presented case report describes the clinical signs and hematologic findings in a cat with polycythemia vera and the response of treatment. Another part is the discussion about the hypothesis that the hippocampal alterations were due to a cerebral hypoperfusion caused by the polycythemic condition.

Multimodality Imaging of Focal and Diffuse Fibrosing Mediastinitis.

Fibrosing mediastinitis is a rare benign but potentially life-threatening process that occurs because of proliferation of fibrotic tissue in the mediastinum. The focal subtype is more common and typically is associated with an abnormal immunologic response to Histoplasma capsulatum infection. Affected patients are typically young at presentation, but a wide age range has been reported, without a predilection for either sex. The diffuse form may be idiopathic or associated with autoimmunity, usually affects middle-aged and/or elderly patients, and is more common in men. For both subtypes, patients present with signs and symptoms related to obstruction or compression of vital mediastinal structures. The most common presenting signs and symptoms are cough, dyspnea, recurrent pneumonia, hemoptysis, and pleuritic chest pain. Patients with the diffuse subtype may have additional extrathoracic symptoms depending on the other organ systems involved. Because symptom severity is variable, treatment should be individualized with therapies tailored to alleviate compression of the affected mediastinal structures. Characteristic imaging features of fibrosing mediastinitis include infiltrative mediastinal soft tissue (with or without calcification) with compression or obstruction of mediastinal vascular structures and/or the aerodigestive tract. When identified in the appropriate clinical setting, these characteristic features allow the radiologist to suggest the diagnosis of fibrosing mediastinitis. Careful assessment is crucial at initial and follow-up imaging for exclusion of underlying malignancy, assessment of disease progression, identification of complications, and evaluation of treatment response. Online supplemental material is available for this article. ©RSNA, 2019.

Peripheral Vaso-Occlusive Events Following Trauma in Patients With Sickle Cell Trait.

Sickle cell trait (SCT) is a common hemoglobin variant, particularly in patients of African descent. Patients with SCT have an increased risk of adverse ocular events following trauma with subsequent elevated intraocular pressure (IOP). The authors describe three cases of young males with peripheral vaso-occlusive events following ocular trauma with subsequent elevated IOP. These cases demonstrate the importance of careful peripheral exams in young patients with SCT following trauma. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e84-e87.].

Evaluation of dual pathology among drug-resistant epileptic patients with hippocampal sclerosis.

PURPOSE: Dual pathology (DP) is defined as simultaneous presence of hippocampal sclerosis (HS) and any other pathology in the brain. Since this is a less probed concept, we aimed to evaluate the frequency and characteristics of DP among drug-resistant epileptic patients with HS. METHODS: This is a cross-sectional study conducted during 2007-2016 in Kashani Comprehensive Epilepsy Center, Isfahan, Iran. Patients with diagnosis of drug-resistant epilepsy and HS were enrolled in the study, and demographic data, seizure semiology, EEG findings, and MRI findings were collected. We compared these variables between three groups of DP, unilateral HS, and bilateral HS. RESULTS: Of the 200 enrolled cases, 29 patients (14.5%) had DP and 21 patients (10.5%) had bilateral HS; the remaining patients had unilateral HS. The average age of patients with DP was 30.03, and 65.5% of them were male. Patients with DP had more EEG discharges from regional and multi-focal sites compared to unilateral HS (P value < 0.001). Also, complex partial seizure (CPS) was more commonly presented in patients with unilateral HS (96.8%). Comparison of disease characteristics between DP and bilateral HS showed no difference in most categories (P > 0.05). CONCLUSIONS: We found DP among 14.5% of our drug-resistant epileptic patients with HS. DP patients mostly presented with CPS and had high proportion of ictal and interictal EEG discharges from regional and multi-focal areas. Gliosis and focal cortical dysplasia were the most common pathologies among DP patients. Patients with DP showed a similar behavior to bilateral HS in many features.

Neurocysticercosis as a probable risk factor for hippocampal sclerosis.

OBJECTIVE: Neurocysticercosis is one of the most common risk factors for epilepsy but its association with drug-resistant epilepsy remains uncertain. Conjectures of an association with drug-resistant epilepsy have been fueled by reports of an association between calcific neurocysticercosis lesions (CNL) and hippocampal sclerosis (HS) from specialized epilepsy centers in Taenia solium-endemic regions. METHODS: The debate arising from these reports is whether the association is causal. Evidence for the association is not high quality but sufficiently persuasive to merit further investigation with longitudinal imaging studies in population-based samples from geographically-diverse regions. The other controversial point is the choice of a surgical approach for drug-resistant epilepsy associated with CNL-HS. RESULTS: Three approaches have been described: standard anteromesial temporal lobectomy, lesionectomy involving a CNL alone and lesionectomy with anteromesial temporal lobectomy (for dual pathology); reports of the latter two approaches are limited. CONCLUSIONS: Presurgical evaluation should consider possibilities of delineating the epileptogenic zone/s in accordance with all three approaches.

Neurocysticercosis as a probable risk factor for hippocampal sclerosis / Neurocisticercose como provável fator de risco para esclerose hipocampal

ABSTRACT Neurocysticercosis is one of the most common risk factors for epilepsy but its association with drug-resistant epilepsy remains uncertain. Conjectures of an association with drug-resistant epilepsy have been fueled by reports of an association between calcific neurocysticercosis lesions (CNL) and hippocampal sclerosis (HS) from specialized epilepsy centers in Taenia solium-endemic regions. The debate arising from these reports is whether the association is causal. Evidence for the association is not high quality but sufficiently persuasive to merit further investigation with longitudinal imaging studies in population-based samples from geographically-diverse regions. The other controversial point is the choice of a surgical approach for drug-resistant epilepsy associated with CNL-HS. Three approaches have been described: standard anteromesial temporal lobectomy, lesionectomy involving a CNL alone and lesionectomy with anteromesial temporal lobectomy (for dual pathology); reports of the latter two approaches are limited. Presurgical evaluation should consider possibilities of delineating the epileptogenic zone/s in accordance with all three approaches.

RESUMO A neurocisticercose é um dos mais comuns fatores de risco para a epilepsia, mas sua associação com a epilepsia resistente a medicamentos (DRE) permanece incerta. Conjecturas de uma associação com a DRE têm sido alimentadas por relatos de uma associação entre lesões de neurocisticercose calcária (CNL) e esclerose hipocampal (HS) de centros especializados em epilepsia em regiões endêmicas de Taenia solium. O debate que surge desses relatórios é se a associação é causal. Se bem as evidências para a associação não são de alta qualidade, são suficientemente persuasivas para merecer mais investigação com estudos longitudinais de imagens em amostras de base populacional de regiões geograficamente diversas. O outro ponto controverso é a escolha da abordagem cirúrgica para a DRE associada à CNL-HS. Três abordagens têm sido descritas: lobectomia temporal ântero-mesial padrão, lesionectomia envolvendo apenas CNL e lesionectomia com lobectomia temporal ântero-mesial (para patologia dupla); os relatórios das duas últimas abordagens são limitados. A avaliação pré-cirúrgica deve considerar as possibilidades de delinear a (s) zona (s) epileptogênica (s) de acordo com as três abordagens.

Some Peculiarities of Local Distribution of Multipotent Mesenchymal Stromal Cells after Their Injection into Intact Muscle Tissue in Experiment.

Changes in the muscular tissue after subcutaneous injection of autologous bone marrow multipotent mesenchymal stromal cells transfected with GFP gene and additionally stained with cell membrane dye Vybrant CM-Dil in the projection of ligated femoral vein were studied by light microscopy with luminescence. Stromal cells injected through the skin can appear not only in the damaged tissue where acceleration of regeneration processes is required, but also in intact structures located in superficial or deeper layers. In intact muscular tissue, stromal cells spreading in the perivascular tissue initiate inflammation and migration of macrophages, activate and even trigger sclerotic processes due to differentiation into connective tissue cells (fibroblasts) and stimulation of proliferation and collagen synthesis by host fibroblasts. Injected multipotent mesenchymal stromal cells are gradually phagocytized by macrophages.

Corpus callosum atrophy and post-surgical seizures in temporal lobe epilepsy associated with hippocampal sclerosis.

OBJECTIVE: Our aim in this retrospective study was to explore whether corpus callosum atrophy could predict the post-surgical seizure control in patients with temporal lobe epilepsy associated with Hippocampal Sclerosis (HS). METHODS: We used the Corpus Callosum Index (CCI) obtained from best mid-sagittal T2/FLAIR or T1-weighted MRI at two time-points, more than one year apart. CCI has been mainly used in Multiple Sclerosis (MS), but not in epilepsy, so we tested the validity of our results performing a proof of concept cohort, incorporating MS patients with and without epilepsy. Then, we explored this measurement in a well-characterized and long-term cohort of patients with temporal lobe epilepsy associated with HS. RESULTS: In the proof of concept cohort (MS without epilepsy n:40, and MS with epilepsy, n:15), we found a larger CCI atrophy rate in MS patients with poor epilepsy control vs. MS without epilepsy (p:0.01). Then, in HS patients (n:74), annualized CCI atrophy rate was correlated with the long-term Engel scale (Rho:0.31, p:0.007). In patients with post-surgical seizure recurrence, a larger CCI atrophy rate was found one year before any seizure relapse. Univariate analysis showed an increased risk of seizure recurrence in males, higher pre-surgical seizure frequency, necessity of invasive EEG monitoring, and higher CCI atrophy rate. Two of these variables were independent predictors in the multivariate analysis, male gender (HR:4.87, p:0.002) and CCI atrophy rate (HR:1.21, p:0.001). CONCLUSION: We demonstrated that atrophy of the corpus callosum, using the CCI, is related with poor seizure control in two different neurological disorders presenting with epilepsy, which might suggest that corpus callosum atrophy obtained in early post-surgical follow-up, could be a biomarker for predicting recurrences and guiding treatment plans.

Possible autoantibody-negative limbic encephalitis after anterior temporal lobectomy for hippocampal sclerosis.

PURPOSE: Amnestic syndromes are acknowledged to be associated to bilateral hippocampal damage. MATERIALS AND METHODS: We briefly report the case of a young man who underwent anterior left temporal lobectomy for a medically refractory temporal lobe epilepsy due to hippocampal sclerosis with an excellent seizure and neuropsychological outcome. Approximately 10 years later, he presented with a subacute severe global amnesia and neuroimaging findings of a damage involving the contralateral mesial temporal lobe structures. RESULTS: A diagnosis of a possible autoimmune encephalitis was made. CONCLUSIONS: Due to its peculiarities (compared with other cases of bilateral temporal lesions, the damage occurred on two distinct occasions), this case might contribute to shed light on the issue of the possible contralateral reorganization of memory processes subserved by the mesial temporal lobe structures chronically involved in epileptogenesis.

Immunopathology in drug resistant mesial temporal lobe epilepsy with different types of hippocampal sclerosis.

PURPOSE: There is evidence that autoimmunity has a specific role in temporal lobe seizures of limbic encephalitis patients. Our aim in this study was to investigate any histopathological clues of autoimmune process in refractory temporal lobe epilepsy (TLE) patients with different pathologically proven hippocampal sclerosis (HS) types. METHODS: 22 patients who had undergone epilepsy surgery due to mesial TLE-HS were included. The sera of patients are tested for neuronal antibodies to N-methyl-D-aspartate receptors (NMDAR), leucine-rich, glioma inactivated 1 (LGI1), contactin-associated protein 2 (CASPR2), α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR), gamma-aminobutyric acid B receptor (GABABR) and glutamic acid decarboxylase (GAD). Pathological and immunohistochemical investigations including neuronal nuclei (NeuN), NMDAR, GAD, glial fibrillary acidic protein (GFAP), CD8+-CD3+ lymphocytes and immunoglobulin G (IgG) were done. Patients were grouped according to type of HS. Clinical features and immunohistochemical changes were defined in these groups. RESULTS: Available sera of 15 patients did not have any neuronal antibodies. Thirteen of 22 patients had HS type 1, three had HS type 2 and two had HS type 3. According to immunohistochemical investigations CD3+ and CD8+ T cell infiltration was more prominent in the hippocampus of patients with classical HS (International League Against Epilepsy (ILAE) Type 1 HS) and there was a significant negative correlation between epilepsy duration and numbers of CD3+-CD8+ lymphocytes in temporal lobe parenchyma. CONCLUSION: The role of T cell-mediated immunopathology and immunopathological difference in a variety of drug resistant TLE-H2S patients was suggested. These findings can be helpful in understanding the epileptogenicity of HS.

Immunogenetic predisposing factors for mesial temporal lobe epilepsy with hippocampal sclerosis.

PURPOSE: Neuroinflammation appears as an important epileptogenic mechanism. Experimental and clinical studies have demonstrated an upregulation of pro-inflammatory cytokines such as IL-1ß and TNF-α, in mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS). Expression of these cytokines can be modulated by polymorphisms such as rs16944 and rs1800629, respectively, both of which have been associated with febrile seizures (FS) and MTLE-HS development. The human leukocyte antigen (HLA) system has also been implicated in diverse epileptic entities, suggesting a variable role of this system in epilepsy. Our aim was to analyse the association between immunogenetic factors and MTLE-HS development. For that rs16944 (-511 T>C, IL-1ß), rs1800629 (-308 G>A, TNF-α) polymorphisms and HLA-DRB1 locus were genotyped in a Portuguese Population. METHODS: We studied 196 MTLE-HS patients (108 females, 88 males, 44.7 ± 12.0 years, age of onset = 13.6 ± 10.3 years, 104 with FS antecedents) and 282 healthy controls in a case-control study. RESULTS: The frequency of rs16944 TT genotype was higher in MTLE-HS patients compared to controls (14.9% in MTLE-HS vs. 7.7% in controls, p = 0.021, OR [95% CI] = 2.20 [1.13-4.30]). This association was independent of FS antecedents. No association was observed between rs1800629 genotypes or HLA-DRB1 alleles and MTLE-HS susceptibility. Also, no correlation was observed between the studied polymorphisms and disease age of onset. CONCLUSION: The rs16944 TT genotype is associated with MTLE-HS development what may be explained by the higher IL-1ß levels produced by this genotype. High IL-1ß levels may have neurotoxic effects or imbalance neurotransmission leading to seizures.