Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): The classical clinical manifestations, fundoscopic examination, and brain MRI findings

2020 ◽  
Vol 79 ◽  
pp. e113
Author(s):  
J. Srikajon ◽  
P. Srivanitchapoom ◽  
Y. Pitakpatapee
Keyword(s):  
Autosomal Recessive ◽  
Brain Mri ◽  
Clinical Manifestations ◽  
Mri Findings ◽  
Spastic Ataxia ◽  
Fundoscopic Examination

scholarly journals PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY IN AN ADULT PATIENT WITHSYSTEMICLUPUSERYTHEMATOSUS

2020 ◽  
Vol 8 (11) ◽  
pp. 791-798
Author(s):  
Khalid Abdullah Alghamdi ◽  
◽  
Ahmed Saeed Almaqati ◽  
Nuha Adnan Meraiani ◽  
Nawal Bassuni ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Progressive Multifocal Leukoencephalopathy ◽  
Lupus Erythematosus ◽  
Brain Mri ◽  
Immunosuppressive Agents ◽  
Clinical Manifestations ◽  
White Matter Lesions ◽  
Subcortical White Matter ◽  
Systemic Lupus ◽  
Mri Findings

We report a case of 40-year-old female who is known to have systemic lupus erythematosus (SLE) presenting with severe cognitive impairment with lymphopenia, proteinuria, and evidence of SLE serological activity. Initially, she was managed as a case of neuropsychiatric systemic lupus erythematosus (NPSLE) with Cyclophosphamide and pulse steroids. However, she has been deteriorating clinically in forms of right sided hemiparesis, blindness, and aphasia despite normalization of complements and anti-double stranded DNA antibodies levels. Diagnosis of progressive multifocal leukoencephalopathy (PML) was made based on her clinical manifestations with brain MRI findings of subcortical white matter lesions and detection of John Cunningham virus (JCV) in cerebrospinal fluid analysis. Immunosuppressive agents were discontinued aiming for immune system restoration.

scholarly journals Kikuchi-Fujimoto Disease With Encephalopathy in Children: Case Reports and Literature Review

2021 ◽  
Vol 9 ◽  
Author(s):  
Yu-Ting Pan ◽  
Li-Ming Cao ◽  
Yan Xu ◽  
Zhi-Dan Fan ◽  
Hai-Guo Yu
Keyword(s):  
Literature Review ◽  
Case Reports ◽  
Brain Mri ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Low Grade ◽  
Mri Findings ◽  
Laboratory Findings ◽  
Protein Levels ◽  
Csf Analysis

Background: Kikuchi-Fujimoto disease (KFD) is a benign and self-limiting disease characterized by regional lymphadenitis and low-grade fever. Encephalopathy may present in children with KFD. We present three cases of KFD with encephalopathy in children and a literature review.Methods: Literature published between 2010 and 2020 was reviewed to understand the clinical features, laboratory findings, and treatments for encephalopathy occurring in children with KFD.Results: The interval between KFD and onset of neurological symptoms was 10 days to 3 months. Laboratory results were normal, except for high protein levels in cerebrospinal fluid findings. Brain magnetic resonance imaging (MRI) findings include hyperintense T2 and FLAIR signal in the supratentorial white matter, deep gray matter, brain stem, cerebellum, temporal lobes, pons, and basal ganglia. Glucocorticoids and immunoglobulin could be effective for treating KFD with encephalopathy.Conclusion: The early clinical manifestations of KFD with encephalopathy in children lack specificity, and the diagnosis is mainly based on CSF analysis and brain MRI findings. Early and timely immunomodulatory therapy is effective and can improve the prognosis of patients with KFD with encephalopathy.

Clinical and brain MR imaging effectively influences the ATP7B genotype of Neurologic Wilson patients

2020 ◽  
Author(s):  
Juan Wang ◽  
Yongzhu Han ◽  
Renmin Yang ◽  
Xuen Yu ◽  
Juncang Wu
Keyword(s):  
Mr Imaging ◽  
Gene Mutation ◽  
Wilson Disease ◽  
Brain Mri ◽  
Clinical Manifestations ◽  
Homozygous Mutation ◽  
Mri Findings ◽  
Its Gene ◽  
The Relationship ◽  
Mutation Type

Abstract Objective To understand the relationship between the two types of mutations in patients with Wilson disease (WD) and clinical practice, and to search for the clinical biological markers of the two types of mutations. Methods The hospitalized patients, who were in the affiliated hospital of neurology institute of anhui university of traditional Chinese medicine from May 2014 to May 2019, with p. arg778leu or p. pro992leu homozygous mutation type of neurologic WD, were selected and underwent demographic, clinical manifestations, serological indicators and brain MR imaging(MRI) data were analyzed to compare the differences of the two mutant types of neurologic WD. ResultsThe group of 103 patients with neurologic WD join in this research, including p.A rg778Leu mutant WD 65 cases and p.P ro992Leu mutant WD 38 cases. The two types of mutations in the WD demographic, clinical manifestation and most serological index indifference, and brain MRI findings have significant differences, especially the p.A rg778Leu mutant WD damage the thalamus(χ2 =17.834, P<0.001), midbrain(χ2 =12.579, P<0.001) and pons(χ2 =10.605, P=0.001)p.P ro992Leu mutant WD have obvious difference, the results of multivariate analysis were also different (P<0.05). Conclusions The demography, clinical features and serology of neurologic WD have nothing to do with its gene mutation type, and the MRI manifestations of brain are related to its gene mutation type, among which the ATP7B gene p.arg778leu mutation is more likely to involve thalamus, midbrain and pons.

Abstract TMP92: Characteristic Brain MRI Features of Manifesting Heterozygotes With Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

Stroke ◽  
2017 ◽  
Vol 48 (suppl_1) ◽  
Author(s):  
Masahiro Uemura ◽  
Hiroaki Nozaki ◽  
Yumi Sekine ◽  
Ikuko Mizuta ◽  
Tomoko Noda ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Disease Duration ◽  
Small Vessel Disease ◽  
Brain Mri ◽  
White Matter Lesions ◽  
Dominant Negative ◽  
Dominant Negative Effect ◽  
Mri Findings ◽  
Mri Features ◽  
Signal Score

Introduction: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a cerebral small-vessel disease (CSVD). Mutations in the high-temperature requirement serine peptidase A1 gene ( HTRA1 ) cause CARASIL via a decrease in protease activity of HTRA1. Although most of the heterozygotes with the HTRA1 mutation are healthy, manifesting heterozygotes have been reported. We have elucidated that the mutant HTRA1s that develops CSVD in a heterozygote state have a distinct molecular mechanism, resulting in the dominant negative effect. These individuals showed mild phenocopy of CARASIL. However, it is not clear whether brain MRI findings in manifesting heterozygotes are different from those of CARASIL. In this study, we aimed to clarify the characteristic brain MRI features in manifesting heterozygotes by comparing them to those in CARASIL. Methods: We have evaluated 19 MRIs in eight manifesting heterozygotes and 21 MRIs in seven CARASIL patients and scored the MRIs by using a semi-quantitative scale for CARASIL, which scored white matter lesions (WMLs) (signal score) and atrophy (atrophy score) (Nozaki et al. Neurology 2015). Statistical analysis was conducted using software R 3.2.2. We obtained written informed consent from all individuals. Results: Signal score in manifesting heterozygotes was significantly lower than that in CARASIL (Mean ± SD; 14.6 ± 1.9 vs. 23.1 ± 5.0, p < 0.0001), however, there was no difference in atrophy score between the two groups (Mean ± SD; 5.5 ± 2.2 vs. 7.5 ± 5.5, p = 0.20). Atrophy score showed positive correlation with the disease duration in both groups (r 2 = 0.48, p = 0.0014 vs r 2 = 0.41, p = 0.0041), however signal score showed no correlation with the disease duration. Conclusion: WMLs is milder in manifesting heterozygote as compared with CARASIL. In contrast, the brain atrophy is not influenced by the HTRA1 mutation status but positively correlated with the disease duration. The rate of carriers for pathogenic HTRA1 mutations are higher than expected. These characteristic findings of brain MRIs might be useful to pick up the candidate for the genetic screening for HTRA1 .

scholarly journals Brain MRI findings in non-ketotic hyperglycemic crisis: Case report

Case reports ◽  
2020 ◽  
Vol 6 (2) ◽  
pp. 146-155
Author(s):  
Laura Estefanía Arenas-Vargas ◽  
Ruben Darío Arenas-Diaz ◽  
Enrique Hernandez-Rojas ◽  
Fabián Riaño-Montañez
Keyword(s):  
Cerebrospinal Fluid ◽  
Metabolic Disorders ◽  
Brain Mri ◽  
Clinical Manifestations ◽  
Epileptic Seizures ◽  
Mri Findings ◽  
Diffusion Restriction ◽  
Parietal Lobes ◽  
Neurological Alterations ◽  
Neuroimaging Techniques

Introduction: Seizures related to metabolic disorders are common phenomena in many clinical contexts. However, clinical manifestations and neuroimaging findings in the context of a hyperglycemic crisis are less frequent phenomena with unclear pathophysiology.Case report: A 68-year-old man presented focal seizures and right homonymous hemianopsia after a non-ketotic hyperglycemic crisis. Brain MRI showed cortical diffusion restriction and subcortical T2 / FLAIR hypointensity in left occipital, temporal (mesial) and parietal lobes. Spectroscopy was performed showing a nonspecific pattern, cerebrospinal fluid was normal and there was improvement with glycemic control. MRI findings were considered secondary to the hyperglycemic crisis.Conclusion: Non-ketotic hyperglycemic states can manifest with several rare neurological alterations and recognizing them early is of vital importance given their potential reversibility. As in other metabolic disorders, epileptic seizures in this context can have focal-type characteristics. Although pathophysiological mechanisms are not clearly elucidated yet, multiple neuroimaging techniques promise to establish patterns that allow accurate and timely diagnosis.

Brain MRI-findings in Ph - negative myeloproliferative disorders

2019 ◽  
Vol 91 (7) ◽  
pp. 29-34 ◽  
Author(s):  
M M Tanashyan ◽  
A L Melikyan ◽  
P I Kuznetsova ◽  
A A Raskurazhev ◽  
A A Shabalina ◽  
...  
Keyword(s):  
Cerebrovascular Disease ◽  
Sinus Thrombosis ◽  
Cerebral Arteries ◽  
Brain Mri ◽  
Myeloproliferative Disorders ◽  
Cerebral Venous Sinus Thrombosis ◽  
Mri Findings ◽  
Cerebral Lesions ◽  
Cerebrovascular Pathology ◽  
Underlying Mechanisms

Myeloproliferative disorders (MPD) are accompanied by a high proportion of thrombotic complications, which may lead to cerebrovascular disease (CVD). Aim. To describe MRI-findings in patients with Ph - negative MPD and evaluate any cerebrovascular disease. Materials and methods. We included 104 patients with Ph - negative MPD (age varied between 20 and 58) with clinical correlates of cerebrovascular pathology. Results. Brain MRI showed post - stroke lesions in 20% of patients (7 hemispheric infarcts due to thrombotic occlusion of one of the large cerebral arteries, 14 - cortical infarcts). 37 patients (36%) had vascular cerebral lesions. Cerebral venous sinus thrombosis occurred in 5 patients - in 7% (n=3) of patients with polycythemia vera and 5% (n=2) - in patients with essential thrombocythemia. The incidence of vascular cerebral lesions was associated with higher levels of the following: erythrocyte, platelet count, fibrinogen, and with the decrease in fibrinolytic activity, as well. Conclusion. The pioneering results of the study include the description and analysis of brain MRI-findings in patients with Ph - negative MPD. The underlying mechanisms of cerebrovascular pathology in these patients are associated with certain blood alterations (particularly, hemorheology) which present a major risk factor.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

scholarly journals Comparisons of clinical characteristics, brain MRI findings, and responses to epidural blood patch between spontaneous intracranial hypotension and post-dural puncture headache: retrospective study

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Gha-Hyun Lee ◽  
Jiyoung Kim ◽  
Hyun-Woo Kim ◽  
Jae Wook Cho
Keyword(s):  
Intracranial Hypotension ◽  
Dural Puncture ◽  
Epidural Blood Patch ◽  
Brain Mri ◽  
Spontaneous Intracranial Hypotension ◽  
Vein Of Galen ◽  
Mri Findings ◽  
Post Dural Puncture Headache ◽  
Straight Sinus ◽  
Blood Patch

Abstract Background Spontaneous intracranial hypotension and post-dural puncture headache are both caused by a loss of cerebrospinal fluid but present with different pathogeneses. We compared these two conditions concerning their clinical characteristics, brain imaging findings, and responses to epidural blood patch treatment. Methods We retrospectively reviewed the records of patients with intracranial hypotension admitted to the Neurology ward of the Pusan National University Hospital between January 1, 2011, and December 31, 2019, and collected information regarding age, sex, disease duration, hospital course, headache intensity, time to the appearance of a headache after sitting, associated phenomena (nausea, vomiting, auditory symptoms, dizziness), number of epidural blood patch treatments, and prognosis. The brain MRI signs of intracranial hypotension were recorded, including three qualitative signs (diffuse pachymeningeal enhancement, venous distention of the lateral sinus, subdural fluid collection), and six quantitative signs (pituitary height, suprasellar cistern, prepontine cistern, mamillopontine distance, the midbrain-pons angle, and the angle between the vein of Galen and the straight sinus). Results A total of 105 patients (61 spontaneous intracranial hypotension patients and 44 post-dural puncture headache patients) who met the inclusion criteria were reviewed. More patients with spontaneous intracranial hypotension required epidural blood patch treatment than those with post-dural puncture headache (70.5% (43/61) vs. 45.5% (20/44); p = 0.01) and the spontaneous intracranial hypotension group included a higher proportion of patients who underwent epidural blood patch treatment more than once (37.7% (23/61) vs. 13.6% (6/44); p = 0.007). Brain MRI showed signs of intracranial hypotension in both groups, although the angle between the vein of Galen and the straight sinus was greater in the post-dural puncture headache group (median [95% Confidence Interval]: 85° [68°-79°] vs. 74° [76°-96°], p = 0.02). Conclusions Patients with spontaneous intracranial hypotension received more epidural blood patch treatments and more often needed multiple epidural blood patch treatments. Although both groups showed similar brain MRI findings, the angle between the vein of Galen and the straight sinus differed significantly between the groups.

scholarly journals Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review

2021 ◽  
Vol 22 (8) ◽  
pp. 4202
Author(s):  
Carlotta Spagnoli ◽  
Carlo Fusco ◽  
Antonio Percesepe ◽  
Vincenzo Leuzzi ◽  
Francesco Pisani
Keyword(s):  
Movement Disorders ◽  
Time Course ◽  
Neonatal Period ◽  
Age Of Onset ◽  
Brain Mri ◽  
Neonatal Seizure ◽  
Mri Findings ◽  
Epileptic Encephalopathies ◽  
Pathogenic Variants ◽  
Neonatal Onset

Despite expanding next generation sequencing technologies and increasing clinical interest into complex neurologic phenotypes associating epilepsies and developmental/epileptic encephalopathies (DE/EE) with movement disorders (MD), these monogenic conditions have been less extensively investigated in the neonatal period compared to infancy. We reviewed the medical literature in the study period 2000–2020 to report on monogenic conditions characterized by neonatal onset epilepsy and/or DE/EE and development of an MD, and described their electroclinical, genetic and neuroimaging spectra. In accordance with a PRISMA statement, we created a data collection sheet and a protocol specifying inclusion and exclusion criteria. A total of 28 different genes (from 49 papers) leading to neonatal-onset DE/EE with multiple seizure types, mainly featuring tonic and myoclonic, but also focal motor seizures and a hyperkinetic MD in 89% of conditions, with neonatal onset in 22%, were identified. Neonatal seizure semiology, or MD age of onset, were not always available. The rate of hypokinetic MD was low, and was described from the neonatal period only, with WW domain containing oxidoreductase (WWOX) pathogenic variants. The outcome is characterized by high rates of associated neurodevelopmental disorders and microcephaly. Brain MRI findings are either normal or nonspecific in most conditions, but serial imaging can be necessary in order to detect progressive abnormalities. We found high genetic heterogeneity and low numbers of described patients. Neurological phenotypes are complex, reflecting the involvement of genes necessary for early brain development. Future studies should focus on accurate neonatal epileptic phenotyping, and detailed description of semiology and time-course, of the associated MD, especially for the rarest conditions.

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