A novelRSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin–Lowry syndrome

2006 ◽  
Vol 140A (12) ◽  
pp. 1274-1279 ◽  
Author(s):  
Yueying Wang ◽  
Jose E. Martinez ◽  
Glen L. Wilson ◽  
Xi-Yu He ◽  
Cathy M. Tuck-Muller ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Brain Mri ◽  
Mri Findings ◽  
Abnormal Brain

scholarly journals Postoperative cerebral air embolism with delayed abnormal brain MRI findings

2021 ◽  
Vol 22 ◽  
pp. 100305
Author(s):  
Yuwa Oka ◽  
Koji Tsuzaki ◽  
Mayu Kamei ◽  
Akihiro Kikuya ◽  
Toshiaki Hamano
Keyword(s):  
Brain Mri ◽  
Air Embolism ◽  
Mri Findings ◽  
Cerebral Air Embolism ◽  
Abnormal Brain

scholarly journals Evaluation of Brain Magnetic Resonance Imaging (MRI) Findings of Neonates with Clinical Seizure Admitted to Yazd Shahid Sadoughi Hospital and its Effect on Diagnostic and Therapeutic Interventions of Newborns from 2015-2016

2020 ◽  
Author(s):  
Razieh Fallah ◽  
Mohammad Javad Asadi ◽  
Reza Nafisi Moghadam ◽  
Mohammad Hossein Ahrar Yazdi
Keyword(s):  
Magnetic Resonance Imaging ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Common Type ◽  
Therapeutic Interventions ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Clinical Seizure ◽  
Magnetic Resonance Imaging Mri ◽  
Abnormal Brain

Introduction: In neonatal period, brain magnetic resonance imaging (MRI) is the best neuroimaging to find etiology of seizure. The aim of this study was to evaluate brain MRI findings of neonates with clinical seizure and its effect on diagnostic and therapeutic interventions of newborn. Methods: In a retrospective study, medical records and brain MRI findings of neonates with clinical seizure admitted to Neonatal Intensive Care Unit or Pediatric Ward of Shahid Sadoughi Hospital, Yazd, Iran from September 2018 and before were evaluated. The data were analyzed using SPSS version 16 software , the required indicators and tables were prepared and Fisher exact test and Chi-square test were used to determine the relationship between qualitative variables and independent t-test was used to compare the means in the two groups Results: Twenty-five girls and 38 boys were studied. The cause of seizures was found in 94% and the most common cause of congenital hypoxia was in 22 infants (35%). The most common type of seizure was tonic in 23 infants (36.5%) and the most common type of generalized seizure was in 47 infants (75%). Brain MRI was abnormal in 19 neonates (30%). Based on the MRI results, there was a change in therapeutic interventions (brain surgery) in four infants (6.3%) and in diagnostic interventions (metabolic tests) in 19 infants (30%). Abnormal brain MRI was more frequent in neonates by cesarean section (46%)  than  normal vaginal delivery (19%), (p= 0.01) and also neonates with partial seizure (37.5%) had an abnormal MRI than  generalized seizure (21%), (p= 0.03). Mean of hospitalization days was longer in neonates with abnormal brain MRI (12.32±2.76 days) than neonates with normal MRI (8.57±2.82 days) (P = 0.02). Conclusion: Based on the results of this study, brain MRI might be useful in finding intracranial pathology that causes seizure in neonates by cesarean section to detect birth asphyxia and in newborns with partial seizure.  

scholarly journals Brain Magnetic Resonance Imaging Findings in Developmentally Delayed Children

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Ali Akbar Momen ◽  
Gholamreza Jelodar ◽  
Hamid Dehdashti
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Developmental Disorders ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Study Groups ◽  
Developmentally Delayed ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Abnormal Brain

Background. Developmental disorders are failure or inability to acquire various age-specific skills at expected maturational age, which affects about 5–10% of preschool children. One of the most important methods for evaluation of developmentally delayed children is neuroimaging, especially, brain magnetic resonance imaging (MRI) that provides useful information regarding brain tissue structures and anomalies.Method and Material. In this study, hospital records of 580 developmentally delayed children (aged 2 months to 15 years) who admitted in pediatric ward of Golestan Hospital from 1997 to 2009 were selected. Information such as age, MRI findings were collected in the questionnaire and statistically analyzed.Results. Total, 580 children including 333 males (57.4%) and 247 females (42.6%) were studied. Abnormal brain MRI was observed in 340 (58.6%) cases (204 Males, 136 females). The finding includes nonspecific in 38 (6.6%), congenital and developmental anomalies of brain in 39 (6.7%), recognizable syndromes in 3 (0.5%), neurovascular diseases or trauma in 218 (37.6%), and metabolic or neurodegenerative diseases in 42 (7.2%) cases.Conclusion. Because 60% of all study groups showed abnormal brain MRI, using this method could be effective in diagnosis, management, and almost prognosis determination processes.

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.

scholarly journals Predictors exploration of abnormal brain magnetic resonance versus normal brain computed tomography imaging in acute carbon monoxide poisoning

2021 ◽  
Keyword(s):  
Computed Tomography ◽  
Carbon Monoxide ◽  
Magnetic Resonance ◽  
Brain Mri ◽  
Brain Lesions ◽  
Normal Brain ◽  
Co Poisoning ◽  
Mri Findings ◽  
Brain Computed Tomography ◽  
Abnormal Brain

Acute brain lesions observed on magnetic resonance imaging (MRI) performed during acute-phase carbon monoxide (CO) poisoning were associated with patient prognosis. However, it may be difficult in critically ill patients because of the long examination time and for patients who have economical limitations due to the high price. The purpose of this study was to identify predictive factors for abnormal brain lesions on MRI in cases of normal brain findings on brain computed tomography (CT) in acute CO poisoning patients. This study was retrospectively analyzed at the tertiary emergency medical center located in Gyeonggi-do, Korea by prospectively collecting CO poisoning registry. From August 2016 to August 2019, 287 patients visited the hospital due to CO poisoning. Exclusion criteria included age under 18 years, being discharged against medical advice, no initial MRI data, no initial CT data, and having abnormal lesions on brain CT. Of the 103 patients included in the final study, the median age was 39 years old; 35 (34.0%) were male and 74 (71.8%) were intentionally exposed to CO. 27 (26.2%) patients had abnormal MRI findings. Based on multivariable analysis, elevated blood urea nitrogen (BUN) concentration (odds ratio, 1.165; 95% confidence interval, 1.037–1.308; p = 0.01) showed a significant association with abnormal MRI findings. The area under the curve was 0.753 (95% confidence interval, 0.636–0.869) in the receiver operating characteristic curve of BUN concentration for abnormal brain MRI presentations. Brain injury may be detected on brain MRI in acute CO poisoning patients even there was a normal brain CT scan. Our study revealed that elevated BUN concentration may be significantly correlated with abnormal MRI findings.

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.

Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation

2008 ◽  
Vol 18 (4) ◽  
pp. 291-298 ◽  
Author(s):  
Nicola Carboni ◽  
Marco Mura ◽  
Giovanni Marrosu ◽  
Eleonora Cocco ◽  
Mohammad Ahmad ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Lmna Gene ◽  
Mri Findings ◽  
Muscle Mri ◽  
Cardiac Phenotype

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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