scholarly journals Ocular manifestations of de-Morsiers syndrome

2020 ◽  
Vol 7 (12) ◽  
pp. 2429
Author(s):  
Priyanka Arora ◽  
Kamaldeep Arora ◽  
Shubhneek K. D. Utaal ◽  
Sumeet Chopra

A two-year old male child presented to the ophthalmology outpatient department (OPD) with parents complaining of child’s inability to make an eye contact. On examination, the patient had horizontal manifest nystagmus with no fixing and following. The pupillary reactions and the anterior segment examination were normal. Fundus examination in both eyes revealed small optic disc with 360 degree hyperpigmented ring in both the eyes (Figure 1 A and B). The macula was >2 disc diameter (DD) in distance from optic disc, suggestive of optic nerve hypoplasia. Magnetic resonance imaging (MRI) brain showed absent septum pellucidum (Figure 1 C and D). Serum growth hormone levels were significantly high. Based on the examination and investigations, diagnosis of de Morsier’s syndrome was made.

2018 ◽  
Vol 33 (11) ◽  
pp. 693-699 ◽  
Author(s):  
Marissa M. Vawter-Lee ◽  
Halley Wasserman ◽  
Cameron W. Thomas ◽  
Beatrice Nichols ◽  
Usha D. Nagaraj ◽  
...  

Improved fetal imaging has resulted in increased diagnosis of isolated absent septum pellucidum without other intracranial abnormalities. There is little literature regarding outcomes for these fetuses. This study hypothesized the majority of infants diagnosed by fetal magnetic resonance imaging (MRI) with isolated absent septum pellucidum would retain this diagnosis postnatally. Specifically, in the absence of postnatal endocrine or ophthalmologic abnormalities, postnatal imaging would find no additional related findings, and fetuses would be at low risk for developmental delay. Two of 8 subjects met postnatal criteria for septo-optic dysplasia; remaining subjects had normal postnatal endocrine and ophthalmologic evaluations and no significant related findings on postnatal MRI. One subject without septo-optic dysplasia had delays on developmental screening; all others had normal screening (range of follow-up 8-72 months). Our study questions the necessity of postnatal imaging for prenatally diagnosed isolated absent septum pellucidum. Majority of fetuses with isolated absent septum pellucidum retained this diagnosis postnatally.


2021 ◽  
pp. 135245852199965
Author(s):  
Kedar R Mahajan ◽  
Moein Amin ◽  
Matthew Poturalski ◽  
Jonathan Lee ◽  
Danielle Herman ◽  
...  

Objective: Describe magnetic resonance imaging (MRI) susceptibility changes in progressive multifocal leukoencephalopathy (PML) and identify neuropathological correlates. Methods: PML cases and matched controls with primary central nervous system lymphoma (PCNSL) were retrospectively identified. MRI brain at 3 T and 7 T were reviewed. MRI-pathology correlations in fixed brain autopsy tissue were conducted in three subjects with confirmed PML. Results: With PML ( n = 26 total, n = 5 multiple sclerosis natalizumab-associated), juxtacortical changes on susceptibility-weighted imaging (SWI) or gradient echo (GRE) sequences were noted in 3/3 cases on 7 T MRI and 14/22 cases (63.6%) on 1.5 T or 8/22 (36.4%) 3 T MRI. Similar findings were only noted in 3/25 (12.0%) of PCNSL patients (odds ratio (OR) 12.83, 95% confidence interval (CI), 2.9–56.7, p < 0.001) on 1.5 or 3 T MRI. On susceptibility sequences available prior to diagnosis of PML, 7 (87.5%) had changes present on average 2.7 ± 1.8 months (mean ± SD) prior to diagnosis. Postmortem 7 T MRI showed SWI changes corresponded to areas of increased iron density along the gray–white matter (GM-WM) junction predominantly in macrophages. Conclusion: Susceptibility changes in PML along the GM-WM junction can precede noticeable fluid-attenuated inversion recovery (FLAIR) changes and correlates with iron accumulation in macrophages.


2015 ◽  
Vol 6 (3) ◽  
pp. NP1-NP4 ◽  
Author(s):  
Nuri Jacoby ◽  
Ulrike Kaunzner ◽  
Marc Dinkin ◽  
Joseph Safdieh

This is a case of a 52-year-old man with a past medical history of 2 episodes of coital thunderclap headaches as well as recent cocaine, marijuana, and pseudoephedrine use, who presented with sudden, sharp, posterior headache associated with photophobia and phonophobia. His initial magnetic resonance imaging (MRI) of the brain, magnetic resonance angiography (MRA) of the head, and magnetic resonance venography (MRV) of the head were all normal as well as a normal lumbar puncture. Given the multiple risk factors for reversible cerebral vasoconstriction syndrome (RCVS), the patient was treated for suspected RCVS, despite the normal imaging. Repeat MRI brain 3 days after hospital admission demonstrated confluent white matter T2 hyperintensities most prominent in the occipital lobes, typical of posterior reversible encephalopathy syndrome (PRES). Repeat MRA of the head 1 day after discharge and 4 days after the abnormal MRI brain showed multisegment narrowing of multiple arteries. This case demonstrates that RCVS may present with PRES on MRI brain and also exemplifies the need to treat suspected RCVS even if imaging is normal, as abnormalities in both the MRI and the MRA may be delayed.


2014 ◽  
Vol 21 (4) ◽  
pp. 497-499
Author(s):  
Manish Jaiswal ◽  
Saurabh Jain ◽  
Ashok Gandhi ◽  
Achal Sharma ◽  
R.S. Mittal

Abstract Although unilateral abducens nerve palsy has been reported to be as high as 1% to 2.7% of traumatic brain injury, bilateral abducens nerve palsy following injury is extremely rare. In this report, we present the case of a patient who developed isolated bilateral abducens nerve palsy following minor head injury. He had a Glasgow Coma Score (GCS) of 15 points. Computed tomography (CT) images & Magnetic Resonance Imaging (MRI) brain demonstrated no intracranial lesion. Herein, we discuss the possible mechanisms of bilateral abducens nerve palsy and its management.


1993 ◽  
Vol 23 (2) ◽  
pp. 319-322 ◽  
Author(s):  
George J. Jurjus ◽  
Henry A. Nasrallah ◽  
Stephen C. Olson ◽  
Steven B. Schwarzkopf

SynopsisMany structural brain abnormalities have been described in schizophrenia, consistent with a neurodevelopmental model for this disease. We report here a study of the cavum septum pellucidum (CSP) in schizophrenia compared to control groups, as well as the clinical correlates of this congenital anomaly in schizophrenia. We conducted a magnetic resonance imaging (MRI) study to compare rates of CSP in schizophrenia (N = 67) v. psychiatric controls (bipolar and schizoaffective, N = 60) and healthy controls (N = 37). Of the controls 18·9 %, and of all psychotic subjects 18·1 % had a CSP of any size and there was no difference in the frequency of large CSP among the groups. Males had higher rates of CSP than females (25% v. 9·7%, P = 0·01) in all groups. Schizophrenics had higher CSP rates than affective patients (25%, v. 10%, P = 0·02). No clinical difference was found between schizophrenics with or without CSP.


2019 ◽  
Vol 8 (3) ◽  
pp. 127-130
Author(s):  
Salma Haji

Background: Tuberculous meningitis (TBM) is difficult to diagnose in early stages due to nonspecific symptoms. There should be high index of suspicion to diagnose TBM at an early stage. The objective of the study was to find out the role of magnetic resonance imaging (MRI) and spinal tap in early diagnosis of tuberculous meningitis. Material and Methods: A cross sectional study was conducted from July 2015 till July 2018 at Neuromedicine ward, Jinnah Postgraduate Medical Centre (JPMC), Karachi. All patients above 12 year of age, both male and female with nonspecific symptoms like headache, malaise and drowsiness or suspicion of TBM (stage I, II, and III according to British Medical Research Council TBM staging criteria) were included in the study. Patients diagnosed with other CNS disease like encephalitis, malaria and acute bacterial meningitis were excluded. Magnetic Resonance Imaging (MRI) of the brain and early spinal tap for cerebrospinal fluid (CSF) analysis were used to diagnose TBM and findings were noted. Results of MRI and CSF analysis were analyzed by SPSS version 24. Results: A total of 110 patients of TBM, with 60 (54.5%) male and 50 (45.5%) female patients were included in the study. Most of the patients belonged to a younger age group of 12-40 years (81.8%), while 18.2% were above 40 years of age. About 90% patients were diagnosed in stage I TBM and 10% in stage II and III. MRI brain findings included meningeal enhancement (60%), hydrocephalus (41.81%) cerebral edema (82.73%), tuberculoma (19%) and infarct (14.5%), respectively. CSF analysis showed low protein in 80%, low glucose in 91.8% and lymphocytic pleocytosis in 97.2%, respectively. Conclusion: Both MRI brain and spinal tap with CSF analysis played a role in the early diagnosis of TBM, which is important to prevent the lethal complications associated with late diagnosis of this disease.


2019 ◽  
Author(s):  
Yiming Xiao ◽  
Jonathan C. Lau ◽  
Taylor Anderson ◽  
Jordan DeKraker ◽  
D. Louis Collins ◽  
...  

AbstractBrain atlases that encompass detailed anatomical or physiological features are instrumental in the research and surgical planning of various neurological conditions. Magnetic resonance imaging (MRI) has played important roles in neuro-image analysis while histological data remain crucial as a gold standard to guide and validate such analyses. With cellular-scale resolution, the BigBrain atlas offers 3D histology of a complete human brain, and is highly valuable to the research and clinical community. To bridge the insights at macro- and micro-levels, accurate mapping of BigBrain and established MRI brain atlases is necessary, but the existing registration is unsatisfactory. The described dataset includes co-registration of the BigBrain atlas to the MNI PD25 atlas and the ICBM152 2009b atlases (symmetric and asymmetric versions) in addition to manual segmentation of the basal ganglia, red nucleus, and hippocampus for all mentioned atlases. The dataset intends to provide the bridge between insights from histological data and MRI studies in research and neurosurgical planning. The registered atlases, anatomical segmentations, and deformation matrices are available at:nist.mni.mcgill.ca/?p=1209.


2019 ◽  
Vol 6 (1) ◽  
Author(s):  
Yiming Xiao ◽  
Jonathan C. Lau ◽  
Taylor Anderson ◽  
Jordan DeKraker ◽  
D. Louis Collins ◽  
...  

Abstract Brain atlases that encompass detailed anatomical or physiological features are instrumental in the research and surgical planning of various neurological conditions. Magnetic resonance imaging (MRI) has played important roles in neuro-image analysis while histological data remain crucial as a gold standard to guide and validate such analyses. With cellular-scale resolution, the BigBrain atlas offers 3D histology of a complete human brain, and is highly valuable to the research and clinical community. To bridge the insights at macro- and micro-levels, accurate mapping of BigBrain and established MRI brain atlases is necessary, but the existing registration is unsatisfactory. The described dataset includes co-registration of the BigBrain atlas to the MNI PD25 atlas and the ICBM152 2009b atlases (symmetric and asymmetric versions) in addition to manual segmentation of the basal ganglia, red nucleus, amygdala, and hippocampus for all mentioned atlases. The dataset intends to provide a bridge between insights from histological data and MRI studies in research and neurosurgical planning. The registered atlases, anatomical segmentations, and deformation matrices are available at: https://osf.io/xkqb3/.


Author(s):  
Sumantra Kumar Raut ◽  
Mihir Sarkar ◽  
Arpita Khemka ◽  
Kalpana Datta ◽  
Mousumi Nandi ◽  
...  

AbstractEvaluation of acquired demyelinating syndrome (ADS) without diagnostic biomarkers results in diagnostic and therapeutic challenges in pediatric population. Immune-mediated ADS of childhood responds well to steroid and intravenous immunoglobulin (IVIg) and in refractory cases with plasma exchange. Novel coronavirus disease 2019 (COVID-19) coinfection in such cases imposes technical challenges in management. An 11-year-old girl with quadriparesis and loss of vision and a magnetic resonance imaging (MRI) brain showing acute demyelinating encephalomyelitis (ADEM) and cerebrospinal fluid examination being noncontributory responded well with plasma exchange after failing steroid and IVIg is described. Coinfection with COVID-19 mandating personal protection in a temperate country imposed technical challenges in her management.


2020 ◽  
Vol 10 (7) ◽  
pp. 1763-1768
Author(s):  
Jun Jiang ◽  
Jing Jin ◽  
Binluo Wang ◽  
Jinming Wang ◽  
Tiaojuan Ren ◽  
...  

Brain tumor detection and segmentation from Magnetic Resonance Imaging (MRI) images is being one of the emerging fields in the biomedicine. A formidable undertaking in brain tumor surgery, medical care, treatment programme and quantitative assessment of MRI images is to precisely diagnose its location and extent. Recently, the convolutional neural network (CNN) based detection and segmentation method on brain tumor MRI images is being one of the emerging fields in the medical imaging as an automatic clinic treatment and evaluation solution. In this article, we put forward a brand new quadruplet loss in CNN framework, which achieves higher accuracy in brain tumor detection and segmentation than other pairwise loss and triplet loss methods. By applying the proposed quadruplet loss to the original L2Net CNN architecture leads to a more compact descriptor named QuadrupletNet. From our experiments, QuadrupletNet shows higher performance than other state-of-the-art loss functions e.g., the Triplet loss, as indicated in experiments on Multimodal Brain Tumor Image Segmentation (BRATS 2018) datasets, and on our own collected MRI brain tumor datasets (named MBTD).


Sign in / Sign up

Export Citation Format

Share Document