scholarly journals LINC-05. PRIMARY CENTRAL NERVOUS SYSTEM EWING SARCOMA IN PEDIATRIC AND AYA PATIENTS: 2 INSTITUTIONS EXPERIENCE IN BUENOS AIRES ARGENTINA

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii378-iii379
Author(s):  
Roberto Nicolas Palomar ◽  
Florencia Yorio ◽  
Lucas Alessandro ◽  
Naomi Arakaki ◽  
Alejandro Muggeri ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Treatment Response ◽  
Ewing Sarcoma ◽  
Brain Mri ◽  
Correct Diagnosis ◽  
Accurate Diagnosis ◽  
Molecular Testing ◽  
Clinical Records ◽  
Leptomeningeal Infiltration

Abstract INTRODUCTION Ewing Sarcoma (ES) is defined by molecular markers, being t(11;22)(q24;q12) the most frequent. Intracranial ES usually shows as metastases from extracranial sites. Primary central nervous system (CNS) lesions are extremely rare. MATERIAL AND METHODS Retrospective review of clinical records from patients with primary CNS ES, assessed at 2 institutions in Argentina between 2007–2019. Translocation was evidenced in all cases through molecular testing. Clinical characteristics, imaging, histopathology, and treatment response were evaluated. Extracranial and osseous lesions were excluded. RESULTS 15 patients. Median age at beginning of symptoms: 8 yo (2–20). Most patients had intracranial hypertension syndrome (14/15). In brain MRI, 5/15 supratentorial lesions, 4/15 posterior fosa, 1/15 medullary, 2/15 supra and infratentorial, and 3/15 lesions diffuse leptomeningeal infiltration. Histopathologic findings showed diffuse pattern with small round blue cells in most cases, other patterns were also described. CD99 marked positive in all cases. Misdiagnosis with glial tumors (4/15), medulloblastoma (6/15) and infectious diseases (3/15); led to median delay to accurate diagnosis of 3 months (range 0–67). After correct diagnosis patients were treated with standard ES treatment (6 VIDE cycles plus radiotherapy) in 14/15 patients. Vincristine, irinotecan and temozolamide was used as second line treatment in all relapse cases whenever possible. EFS was 22 months (2- 65). OS at 5 years of follow-up was 46,67% (mean OS 31 mo). CONCLUSION Even though molecular assessment led to accurate diagnosis in all cases, treatment response and outcome showed two different groups of patients with long and very short survival. Adaptative therapy should be considered.

scholarly journals RARE-43. PRIMARY CENTRAL NERVOUS SYSTEM EWING SARCOMA: A SINGLE INSTITUTION EXPERIENCE

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi230-vi231
Author(s):  
Florencia Yorio ◽  
Lucas Alessandro ◽  
Naomi Arakaki ◽  
Nicolas Palomar ◽  
Alejandro Muggeri ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Ewing Sarcoma ◽  
Brain Mri ◽  
Case Series ◽  
Progression Free Survival ◽  
Whole Body ◽  
Focal Neurological Deficit ◽  
Primary Tumors ◽  
Clinical Records

Abstract INTRODUCTION Ewing Sarcoma (ES) is defined by molecular markers, being t(11,22) the most frequent. Intracranial ES/pPNET usually represent metastases from extracranial sites. Primary Central Nervous System (CNS) lesions are extremely rare. MATERIAL AND METHODS Retrospective review of clinical records from patients with primary CNS ES/pPNET assessed at a neurological center in Argentina between 2007–2019. All confirmed with molecular marker. Clinical characteristics, imaging, histopathology, and treatment response were evaluated. Extensive workup included whole-body CT scan, skeletal-scintigraphy, and positron-emission tomography, excluding extracranial primary lesions in all cases. RESULTS Total 24p. Median age 22yo (2–65); M:F 2:1. Clinical presentation: intracranial hypertension, focal neurological deficit or seizures. In brain MRI 11 supratentorial lesions, 7 infratentorial and 6 diffuse leptomeningeal. Histopathology: diffuse pattern with small round blue cells 13/24p, other patterns were also described. CD99 marked positive in all cases and T(11.22) confirmed as well: 22 PCR and 2 FISH for EWSR1-rearrangement. Misdiagnosis lead to median delay for accuracy of 7,5mo (0–124); including other CNS primary tumors (n= 13), infectious diseases (n= 5) and other diagnoses (n= 4). Most patients (n= 10) were treated with Euro99-protocol (6 cycles plus local radiotherapy (RT)), 4 with Temozolomide, Irinotecan plus RT, 7 with other regimens and 2 received no treatment. Mean overall survival (OS): 58mo (0–132) and progression-free survival 22mo (0–85). Five year OS:41%. CONCLUSION Clinical behavior in primary CNS ES deferred from extraosseous ES, being necessary to apply a specific regimen for this pathology as there is no standard regime for intracranial ES/pPNET. Results showed two different groups of patients with long and very short survival. Presentation, histology, and outcomes are so uneven that we propose if a more specific molecular classification should be necessary. This is, to our knowledge, the largest case series reported describing a heterogeneous group despite the presence of accurate molecular diagnosis.

Primary Intradural Extraosseous Ewing Sarcoma of the Spine: Case Report and Literature Review

Neurosurgery ◽  
2011 ◽  
Vol 69 (4) ◽  
pp. E995-E999 ◽  
Author(s):  
Isaac O Karikari ◽  
Ankit I Mehta ◽  
Shahid Nimjee ◽  
Tiffany R Hodges ◽  
June Tibaleka ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Ewing Sarcoma ◽  
Correct Diagnosis ◽  
Immunohistochemical Analysis ◽  
Leg Pain ◽  
Treatment Modalities ◽  
Magnetic Resonance Imaging Mri ◽  
The Right ◽  
Extraosseous Ewing Sarcoma

Abstract BACKGROUND AND IMPORTANCE: To report a rare case of spinal intradural extraosseous Ewing sarcoma in an adult and review current literature. Although Ewing sarcoma belongs to the family, the treatment modalities are different, and thus the correct diagnosis is very important despite its rare occurrence. CLINICAL PRESENTATION: A 56-year-old woman presented with nocturnal bilateral buttock and leg pain. Magnetic resonance imaging (MRI) showed an enhancing intradural extramedullary extraosseous tumor at L1. INTERVENTION: A T12-L2 laminectomy was performed to resect the tumor. Immunohistochemical analysis confirmed the diagnosis of Ewing sarcoma. A thorough diagnostic workup did not reveal any bony origin of the tumor. Primary intradural central nervous system Ewing sarcoma is infrequently encountered and shares imaging and histopathological features with central primitive neuroectodermal tumors. Establishment of the right diagnosis is crucial because it mandates a distinct workup and treatment modality different from that for central primitive neuroectodermal tumor. Although osseous Ewing sarcoma predominantly occurs in children and young adults, extraosseous central nervous system Ewing sarcoma is not uncommon in adults and should therefore be considered in the differential diagnosis of extraosseous small blue cell tumors in adult patients.

Primary leptomeningeal lymphoma masquerading as infectious tubercular meningitis

2021 ◽  
Vol 14 (9) ◽  
pp. e243574
Author(s):  
Salini Sumangala ◽  
Thidar Htwe ◽  
Yousuf Ansari ◽  
Lidia Martinez- Alvarez
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Correct Diagnosis ◽  
Central Nervous System Lymphoma ◽  
Final Diagnosis ◽  
Csf Analysis ◽  
Antitubercular Treatment ◽  
Lymphoma Treatment ◽  
Work Up ◽  
Timely Treatment

Primary central nervous system lymphoma (PCNSL) is infrequent and often poses diagnostic conundrums due to its protean manifestations. We present the case of a South Asian young man presenting with raised intracranial pressure and a lymphocytic cerebrospinal fluid (CSF) with pronounced hypoglycorrhachia. Progression of the neuro-ophthalmic signs while on early stages of antitubercular treatment led to additional investigations that produced a final diagnosis of primary leptomeningeal lymphoma. Treatment with chemoimmunotherapy (methotrexate, cytarabine, thiotepa and rituximab (MATRix)) achieved full radiological remission followed by successful autologous transplant. This case highlights the difficulties and diagnostic dilemmas when PCNSL presents as a chronic meningeal infiltrative process. While contextually this CSF is most often indicative of central nervous system tuberculosis and justifies empirical treatment initiation alone, it is essential to include differential diagnoses in the investigation work-up, which also carry poor prognosis without timely treatment. High suspicion, multidisciplinary collaboration and appropriate CSF analysis were the key for a correct diagnosis.

scholarly journals Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Georgios Koutsis ◽  
Georgia Karadima ◽  
Paraskewi Floroskoufi ◽  
Maria Raftopoulou ◽  
Marios Panas
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
Brain Mri ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Relapsing Remitting ◽  
Remitting Multiple Sclerosis ◽  
Relapsing Remitting Multiple Sclerosis ◽  
Tooth Disease

We report a patient with relapsing remitting multiple sclerosis (MS) and X-linked Charcot-Marie-Tooth disease (CMTX), carrying a GJB1 mutation affecting connexin-32 (c.191G>A, p. Cys64Tyr) which was recently reported by our group. This is the third case report of a patient with CMTX developing MS, but it is unique in the fact that other family members carrying the same mutation were found to have asymptomatic central nervous system (CNS) involvement (diffuse white matter hyperintensity on brain MRI and extensor plantars). Although this may be a chance association, the increasing number of cases with CMTX and MS, especially with mutations involving the CNS, may imply some causative effect and provide insights into MS pathogenesis.

scholarly journals Neurobrucellosis mimicking primary vasculitis of the central nervous system: we should perform a metagenomic analysis of the cerebrospinal fluid prior to brain biopsy

2021 ◽  
Author(s):  
Marina Barrionuevo Mathias ◽  
Fernando Gatti ◽  
Gustavo Bruniera ◽  
Vitor Paes ◽  
Gisele Sampaio Silva ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Psychiatric Symptoms ◽  
Brain Mri ◽  
Genetic Material ◽  
Clinical Manifestations ◽  
Brain Biopsy ◽  
Metagenomic Analysis ◽  
Normal Brain ◽  
The Central Nervous System

Context Primary angiitis of the central nervous system (PACNS) is characterized by the inflammation of small and medium CNS arteries; the clinical manifestations include headache, cognitive impairment and focal neurological deficits. The gold standard test for diagnosis is brain biopsy. Neurobrucellosis is an infection associated with cattle farming, which leads to neurological and psychiatric symptoms. We report a case of neurobrucellosis mimicking PACNS. Case report Male, 32 years old, with fever, headache, dizziness and cognitive impairments for 30 days. History of stroke 2 years before, with mild sequelae right hemiparesis; investigation showed suspected intracranial dissection. On physical examination, he had apathy, preserved strength, reduced reflexes with plantar flexor responses. General laboratory tests, autoantibodies and serology were normal. Brain MRI showed deep left nucleocapsular gliosis and cerebral angiography revealed stenosis of the ICA and MCA. CSF showed 42 cells/ mm³, glucose 46 mg/dL, protein 82 mg/dL. Blood PCR was negative for Brucella. Immunophenotyping of the CSF and PET-CT excluded neoplasia. Brain biopsy was inconclusive for vasculitis. Metagenomic analysis of the CSF detected 78% of Brucella genetic material. Serum agglutination test was 1:40 for brucella. Conclusions PACNS is diagnosed by exclusion. The patient filled criteria for possible PACNS, image compatible with vascular stenosis, but inconclusive brain biopsy. Brucellosis is an endemic disease in underdeveloped countries that can present as CNS vasculitis. Metagenomic analysis allows the detection of different pathogens using a single method. The case illustrates the use of metagenomics in rare diseases characterized by vasculitis, with change in clinical outcomes and conduct.

Onset of progressive motor impairment in patients with critical central nervous system demyelinating lesions

2020 ◽  
pp. 135245852094098
Author(s):  
Roman M Kassa ◽  
Elia Sechi ◽  
Eoin P Flanagan ◽  
Timothy J Kaufmann ◽  
Orhun H Kantarci ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Brain Mri ◽  
Age At Onset ◽  
Motor Impairment ◽  
Resonance Imaging ◽  
Total Brain ◽  
Demyelinating Lesions ◽  
Magnetic Resonance Imaging Mri ◽  
Brain And Spinal Cord

Objective: To compare progressive motor impairment onset attributable to a “critical” central nervous system (CNS) demyelinating lesion in patients with highly restricted versus unlimited magnetic resonance imaging (MRI) lesion burden. Methods: We identified 135 patients with progressive motor impairment for ⩾1 year attributable to a “critical” demyelinating lesion with: MRI burden of 1 lesion (“progressive solitary sclerosis”), 2–5 lesions (“progressive paucisclerosis”), or unrestricted (>5) lesions and “progressive unilateral hemiparesis.” Neuroradiology review of brain and spinal cord MRI documented unequivocally demyelinating lesions. Results: A total of 33 (24.4%) patients had progressive solitary sclerosis; 56 (41.5%) patients had progressive paucisclerosis; and 46 (34.1%) patients had progressive unilateral hemiparesis. Median age at onset of progressive motor impairment was younger in progressive solitary sclerosis (49 years; range 24–73) and progressive paucisclerosis (50 years; range 30–64) than in progressive unilateral hemiparesis (54 years; range 39–77; p = 0.02 and p = 0.003, respectively). Within progressive unilateral hemiparesis, motor-progression onset was similar between those with 4–10, 11–20, or >20 brain lesions (55, 54, 53 years of age, respectively; p = 0.44). Conclusion: Motor-progression age is similar, but paradoxically earlier, in cohorts with highly restricted CNS lesion burden than in those with unrestricted lesion burden with progressive unilateral hemiparetic MS. The “critical” demyelinating lesion rather than total brain MRI lesion burden is the major contributor to motor-progression onset in these cohorts.

scholarly journals Duration of anti-tuberculous therapy in children with persistent tuberculomas

2019 ◽  
Vol 7 ◽  
pp. 2050313X1882309 ◽  
Author(s):  
Ira Shah ◽  
Naman S Shetty
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Treatment Response ◽  
Complete Resolution ◽  
Treatment Duration ◽  
Absolute Necessity ◽  
Duration Of Therapy ◽  
Usual Treatment

The usual treatment duration of tuberculomas recommended is 1 year. While anti-tuberculous therapy is of absolute necessity for the treatment of central nervous system tuberculosis, no clear guidelines exist regarding the duration of therapy in case of persistent tuberculomas. We present a series of six cases of children with central nervous system tuberculosis who received anti-tuberculous therapy for a period varying between 23 and 32 months depending on the resolution of lesion seen in neuroradiological scans of the patients. Decrease in number and size of granuloma were noted in all patients while one patient showed complete resolution. After stopping anti-tuberculous therapy, the size of the granuloma remained the same, while in one patient an increase was noted. Thus, the duration of anti-tuberculous therapy in patients with tuberculoma may vary and may be required for longer time based on treatment response.

scholarly journals 1417. Detection of Human Herpesviruses DNA in Cerebrospinal Fluids of Patients Suspected with Central Nervous System Infection

2019 ◽  
Vol 6 (Supplement_2) ◽  
pp. S516-S516
Author(s):  
Yuki Higashimoto ◽  
Soichiro Ishimaru ◽  
Hiroki Miura ◽  
Kei Kozawa ◽  
Masaru Ihira ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Brain Mri ◽  
Central Nervous System Infection ◽  
Clinical Manifestations ◽  
Rflp Analysis ◽  
Cns Infection ◽  
Characteristic Change ◽  
Human Herpesviruses ◽  
Hsv 1

Abstract Background Of the nine human herpesviruses (HHVs), most viruses have neurovirulence. Clinical manifestations of central nervous system (CNS) complications caused by some of the HHVs are well examined in children and immunocompromised adults; however, information of EBV and β-herpesviruses in an immunocompetent adult is limited. Methods Between April 2013 and March 2018, 322 patients (median age; 51.6 years old, male/female; 196/126) suspected to CNS infection were enrolled in this study. Patients with unconsciousness or characteristic change lasting more than 24 hours and abnormal brain MRI or EEG were defined as encephalitis. Real-time PCRs for detection of the 7 HHVs DNA including HSV-1, HSV-2, VZV, CMV, EBV, HHV-6, and HHV-7 were carried out in DNA extracted from 200 μL CSF. HHV-6 was discriminated between HHV-6A and HHV-6B using RFLP analysis. Results Herpesviruses DNA was detected in 33 (10.2%) of the 322 patients. The most frequently detected HHVs was VZV (19 cases) and followed by HHV-6B (4 cases), HSV-1 (3 cases), HSV-2 (3 cases), and EBV (2 cases). Multiple HHVs DNAs were detected from the 2 patients (case A; HSV-2, HHV-6, and EBV, case B; EBV and HHV-6B). No CMV and HHV-7 DNAs were detected in any of the samples. Eleven cases were assigned as encephalitis, and other 22 cases were non-encephalitis. Although all 3 patients with positive HSV-1 DNA were encephalitis, all 3 patients with positive HSV-2 DNA were meningitis. Fourteen (13 patients had zoster) of the 19 patients with positive VZV DNA were meningitis, and the remaining 5 patients (4 patients had zoster) were encephalitis. Two of the 4 HHV-6B-positive patients were non-encephalitis, one patient was diagnosed Orbital apex syndrome and another patient was myelitis. One of the 2 encephalitis patient was chromosomally integrated (ci) HHV-6. Additionally, case B was also ciHHV-6. Conclusion Approximately 10% of the samples were positive of HHVs DNA. VZV was the most frequently detected viral DNA in this cohort. Thirty-three percent of the patients were encephalitis, remaining patients were non-encephalitis such as meningitis and myelitis. As suggested, ciHHV-6 can cause miss-diagnosis of patients suspected with CNS infection. Disclosures All authors: No reported disclosures.

scholarly journals Rasmussen’s Encephalitis: A Report of a Tunisian Pediatric Case and Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Hedia Klaa ◽  
Thouraya Ben Younes ◽  
Hanene Benrhouma ◽  
Sonia Nagi ◽  
Aida Rouissi ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Brain Imaging ◽  
Brain Mri ◽  
Rasmussen Encephalitis ◽  
Pediatric Case ◽  
Rasmussen’S Encephalitis ◽  
Progressive Neurological Deficit ◽  
The Central Nervous System

Rasmussen’s encephalitis (RE) is a rare progressive inflammatory disease of the central nervous system. It is characterized by unilateral hemispheric atrophy, pharmacoresistant focal seizures, and progressive neurological deficit. The exact etiopathogenesis still remains unknown. Brain imaging plays an important role in diagnosis and follow-up. Fluctuation of lesions in brain imaging was reported in few cases. Herein, we report an additional pediatric case of Rasmussen encephalitis with fluctuating changes in brain MRI.

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