scholarly journals RARE-35. MRI FINDINGS AT PROGRESSION IN ADULT PATIENTS WITH MEDULLOBLASTOMA

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi229-vi229
Author(s):  
Christine Cordova ◽  
Elizabeth Vera ◽  
Orwa Aboud ◽  
Ramya Antony ◽  
Lisa Boris ◽  
...  

Abstract Progression (PD) in medulloblastoma (MB) represents a diagnostic challenge due to imaging heterogeneity among/within patients. SHH (Sonic hedgehog)-MB is thought to recur mostly within the tumor bed (TB). In children, DWI restriction (DWIr) is more sensitive than contrast enhancement(CE) for first PD. Whether this is applicable to adults is unknown. METHODS Retrospective review of adults (age ≥18) with MB enrolled to Natural History study at NCI-NOB. Descriptive statistics of imaging at diagnosis and PD(CE, T2/FLAIR signal without CE, DWIr) and imaging patterns for each PD. RESULTS:14 adults with MB: 5 diagnosed in childhood (8–16 yrs), 9 as adults (18–45 yrs); Subtypes: 7 SHH, 3 non-WNT/non-SHH, 4 unknown. Eleven experienced ≥1 PD (6/7 SHH, 2/3 non-WNT/non-SHH, 3/4 unknown); median PD of 5 (range 1–9). Median age at first PD 31 years (range 10–46) with 5 first PDs >5 years after diagnosis. In 10 patients with available baseline MRI, 9 had CE, and 8 DWIr (2 without DWI sequences). Of 48 total PDs, the commonest patterns were: brain LMD alone (n=14), TB alone or distant brain parenchyma alone (each n=7), distant brain parenchyma with brain LMD (n=6), and TB with either distant brain parenchyma or LMD (n=3). Of the 82 PD lesions, 23% (n=14) of brain lesions lacked DWIr, and 37% (n=23) had T2/FLAIR signal without CE. PD tissue confirmation obtained at 18 time points:16 cases with confirmed recurrence had heterogeneous characteristics; in 12 with brain PD: CE in 5, T2/FLAIR without CE in 3 (unknown: 4). 2 CE lesions revealed meningioma (one- atypical meningioma- had DWIr). CONCLUSIONS Imaging findings in adult patients with MB are highly heterogeneous. Despite high specificity of DWIr for PD in children, it failed for 23% of brain lesions across multiple patients. Most SHH-MB had PD outside the TB, unlike what is widely accepted in the literature.

2005 ◽  
Vol 46 (2) ◽  
pp. 196-199 ◽  
Author(s):  
F. Gelal ◽  
E. Kumral ◽  
B. Dirim Vidinli ◽  
D. Erdogan ◽  
K. Yucel ◽  
...  

Central nervous system involvement in trichinosis is not rare. Brain lesions in trichinosis have been defined on computed tomography and magnetic resonance imaging (MRI) as multifocal small lesions located in the cerebral cortex and white matter. We present a case of trichinosis with multifocal lesions of the brain detected by MRI and diffusion weighted MRI. Evolutions of these lesions from acute through chronic stages on follow up studies are also presented. This is the first report describing sequential MRI findings and diffusion weighted imaging appearance of brain lesions in trichinosis. Sequential evaluation of conventional and diffusion MR data allowed us to conclude that multifocal lesions in the brain were related to multiple infarctions rather than true inflammatory infiltration of the brain parenchyma.


2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Trisha J. Oura ◽  
Peter J. Early ◽  
Samuel H. Jennings ◽  
Melissa J. Lewis ◽  
Jeremy R. Tobias ◽  
...  

A Miniature Pinscher developed acute blindness and behavioral changes. On magnetic resonance imaging (MRI), there were multiple small intra-axial cystic lesions, and primary differential diagnoses included primary or metastatic neoplasia and neurocysticercosis. These cystic lesions were subsequently diagnosed histopathologically as disseminated choroid plexus carcinoma. This is only the second documented description of this diagnosis in a dog, but both patients had very similar MRI findings. This patient adds to the literature about the MRI characteristics of choroid plexus tumors and indicates that choroid plexus tumor should be considered as a possible cause of small multifocal intra-axial cystic brain lesions in dogs, regardless of whether a primary intraventricular lesion is visible.


Author(s):  
Janne Nurminen ◽  
Jaakko Heikkinen ◽  
Tatu Happonen ◽  
Jarno Velhonoja ◽  
Heikki Irjala ◽  
...  
Keyword(s):  

2019 ◽  
Vol 12 (8) ◽  
pp. e230532
Author(s):  
Biplab Kumar Saha ◽  
Aditi Saha ◽  
Scott Beegle

Neurosarcoidosis (NS) is a rare disease, affecting only 3%–10% of patients with sarcoidosis. The clinical presentation can be protean and often represents a diagnostic challenge. Cerebrospinal fluid (CSF) ACE level has poor sensitivity, but high specificity for establishing a diagnosis of NS. We present a case of NS in a middle-aged African American woman who presented with dysphagia and dysphonia. An extensive radiological workup was negative for structural brain disease. CSF studies demonstrated lymphocyte predominant pleocytosis with an elevated ACE level. A diagnosis of possible neurosarcoidosis was made. She responded to systemic steroid therapy with complete resolution of her symptoms over the next five months. In the appropriate clinical setting, an elevated CSF ACE level could be of paramount importance for making a diagnosis of NS.


2004 ◽  
Vol 183 (3) ◽  
pp. 645-653 ◽  
Author(s):  
Robert P. Hartman ◽  
Murali Sundaram ◽  
Scott H. Okuno ◽  
Franklin H. Sim
Keyword(s):  

2021 ◽  
pp. 20210008
Author(s):  
Atefeh Zeinoddini ◽  
Amy Bezold ◽  
Obadah Ezzeldin ◽  
Huda AL Jadiry

Chondromyxoid fibroma (CMF) is a rare benign bone tumor of cartilaginous origin, with an extremely rare craniofacial occurrence. Considering its rarity, craniofacial CMF presents a diagnostic challenge for radiologists. To our knowledge, only seven cases of zygomatic CMF have been described in the literature, only one of which was in the paediatric age group. Furthermore, none of the currently reported cases include MRI findings of zygomatic CMF. Here, we present a paediatric case of CMF of the zygoma with a comprehensive literature review of the reported cases, focusing on their radiological features and its differential diagnosis.


2021 ◽  
Vol 18 (2) ◽  
Author(s):  
Jihyun Kim ◽  
Byung Hyun Baek ◽  
Yun Young Lee ◽  
Woong Yoon ◽  
Kyung-Hwa Lee ◽  
...  

: Medulloblastoma with extensive nodularity (MBEN) is a rare histological subtype of medulloblastomas in very young children. It is characterized by an aggressive grape-like appearance and favorable outcomes. Herein, we report the case of a nine-month-old patient with MBEN, associated with an activated sonic hedgehog (SHH), with rare multimodal magnetic resonance imaging (MRI) features. Conventional MRI findings indicated the dense homogeneous enhancement of a large unusual gyriform mass in the cerebellar vermis and both cerebellar hemispheres. The mass showed restricted diffusion on diffusion-weighted images, low concentrations of taurine on MR spectroscopy, and a relatively low cerebral blood volume on dynamic susceptibility contrast (DSC) MR perfusion image. The patient underwent partial tumor resection, chemotherapy, and autologous blood stem cell transplantation. After treatment, the lesion rapidly regressed in the serial follow-up imaging without recurrence.


2020 ◽  
Vol 35 (7) ◽  
pp. 433-441
Author(s):  
Bindu Parayil Sankaran ◽  
Madhu Nagappa ◽  
Shwetha Chiplunkar ◽  
Sonam Kothari ◽  
Periyasamy Govindaraj ◽  
...  

The overlapping clinical and neuroimaging phenotypes of leukodystrophies pose a diagnostic challenge to both clinicians and researchers alike. Studies on the application of exome sequencing in the diagnosis of leukodystrophies are emerging. We used targeted gene panel sequencing of 6440 genes to investigate the genetic etiology in a cohort of 50 children with neuroimaging diagnosis of leukodystrophy/genetic leukoencephalopathy of unknown etiology. These 50 patients without a definite biochemical or genetic diagnosis were derived from a cohort of 88 patients seen during a 2.5-year period (2015 January-2017 June). Patients who had diagnosis by biochemical or biopsy confirmation (n = 17) and patients with incomplete data or lack of follow-up (n = 21) were excluded. Exome sequencing identified variants in 30 (60%) patients, which included pathogenic or likely pathogenic variants in 28 and variants of unknown significance in 2. Among the patients with pathogenic or likely pathogenic variants, classic leukodystrophies constituted 13 (26%) and genetic leukoencephalopathies 15 (30%). The clinical and magnetic resonance imaging (MRI) findings and genetic features of the identified disorders are discussed.


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