white matter disease
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Author(s):  
Jyotindra Narayan Goswami ◽  
Shijith K.P ◽  
Ashish Kumar Simalti ◽  
Saroj Kumar Patnaik

AbstractA 3.5-year-old male child patient with mild developmental delay presented with history of acute onset fever, encephalopathy, and dyskinesia. The patient was investigated for common etiologies and was managed supportively. His neuroimaging was suggestive of vanishing white matter (VWM) disease which was confirmed by clinical exome sequencing. The child had an eventful hospital stay followed by near-total recovery after 4 weeks. The case attempts to sensitize readers about the current perspectives pertaining to VWM disease.


2021 ◽  
Vol 17 (S1) ◽  
Author(s):  
Daniel L Schwartz ◽  
Caela Hung ◽  
David Lahna ◽  
Natalie E Roese ◽  
Randy L Woltjer ◽  
...  

Author(s):  
Nancy Gadallah ◽  
Danisette Torres ◽  
Arifa Ghori ◽  
Laura Suhan ◽  
Spozhmy Panezai ◽  
...  

Introduction : The relationship between embolic stroke and patent foramen ovale (PFO) is well‐established. Our objective was to evaluate the association between high intensity transient signals (HITS) in contrast‐enhanced transcranial doppler ultrasonography (ceTCD), baseline MRI brain small vessel ischemic changes, and rates of acute ischemic stroke in the setting of focal neurological deficits. Methods : Electronic medical records of subjects with acute onset neurological symptoms who had ceTCD and MRI brain were evaluated. Subjects without a reported Spencer grade and/or MRI brain without available DWI and FLAIR sequences were excluded. Acute stroke rates and baseline Fazekas score in low‐grade (Spencer grade 1–2) and high‐grade (Spender grade 3–5) shunts were analyzed using Z score for 2 population proportions and Mann‐Whitney U test, respectively. Social Science Statistics was used for data analysis. Results : From June 2016 to August 2021, of 7,498 consecutive ischemic stroke patients, 132 patients were identified as possible strokes related to PFO and were hospitalized with focal neurological deficit, underwent ceTCD and MRI brain. Acute stroke was confirmed on DWI in 60% of Spencer grade 1 (n = 73), 72.2% of grade 2 (n = 19), 72.7% of grade 3 (n = 29), and 80% of grades 4 and 5 shunts (n = 11). Acute stroke rates between low grade (grades 1–2) and high grade shunts (grades 3–5), did not reach statistical significance (z = ‐0.9181; p = 0.17879). There was no significant difference in periventricular white matter disease (z = 0.85697; p = 0.19489). Fazekas scores assessing deep white matter disease were statistically significant between low‐ and high‐grade shunts (z = 1.92818; p = 0.0268 Conclusions : A trend towards statistical significance was observed in high‐grade shunt association with higher rate of acute stroke. Deep white matter disease burden may be significantly higher in high‐grade shunts. Further prospective studies are needed to corroborate our findings.


Author(s):  
Melis Ulak Ozkan ◽  
Selahattin Katar ◽  
Edibe Pembegul Yildiz ◽  
Nur Aydinli ◽  
Mine Caliskan

2021 ◽  
Vol 429 ◽  
pp. 118270
Author(s):  
Giulia Galli ◽  
Eleonora Virgilio ◽  
Paola Naldi ◽  
Riccardo Fornaro ◽  
Domizia Vecchio ◽  
...  

2021 ◽  
pp. 5-5
Author(s):  
Dodla Natya Reddy ◽  
Kancharla Naveen Kumar

Vanishing white matter disease (VWM) is the most prevalent inherited leucoencephalopathies in children with central hypomyelination. The classical phenotype is characterized by early onset of chronic neurological deterioration, dominated by cerebellar ataxia. The phenotypic variation is extremely wide from antenatal in onset type with early demise to adult in onset with slowly progressive disease. The basic defect is in one of the ve sub-units of eIF2Binitiation factor. Here we report a case of 80 days old male infant with decreased weight gain, stiffness of all four limbs, seizures following head trauma in whom MRI brain identied T2 hyperintensities in white matter of fronto-temporo-parieto-occipital regions and on DWI, it showed abnormal white matter with increased diffusivity reecting the rarefaction and cystic degenerations. Hence diagnosis of VWM disease was established.


2021 ◽  
Vol 429 ◽  
pp. 118258
Author(s):  
Rim Smaoui ◽  
Khadija Sonda Moalla ◽  
Nouha Farhat ◽  
Salma Sakka ◽  
Olfa Hdiji ◽  
...  

Author(s):  
Guy Helman ◽  
Marisa I. Mendes ◽  
Francesco Nicita ◽  
Lama Darbelli ◽  
Omar Sherbini ◽  
...  

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