Brain MRI features of methylmalonic acidemia in children: the relationship between neuropsychological scores and MRI findings

Abstract Purpose To investigate the relationship between dynamic magnetic resonance imaging (MRI) findings and hormonal activity in pituitary adenomas. Methods We retrospectively evaluated the dynamic MRI findings in 244 patients with pathologically confirmed pituitary adenomas and a diagnosis of clinically active prolactin (PRL)-producing adenomas. Among the 244 pituitary adenomas, 55, 16, 6, and 4 produced growth hormone (GH), PRL, adrenocorticotropic hormone, and thyroid-stimulating hormone, respectively, while 163 were non-functioning (NF) adenomas. For each adenoma, we calculated the washout rate (WR) and early (EER) and delayed (DER) tumour-to-normal-tissue enhancement ratios. Results The respective mean values of the WR, EER, and DER were 9.4%, 75.2%, and 64.5% for GH-producing adenomas; 6.2%, 117.1%, and 106.2% for PRL-producing adenomas; and 5.4%, 116.7%, and 108.7% for NF adenomas. GH-producing adenomas had significantly lower EER and DER values than PRL-producing (P < 0.001) and NF adenomas (P < 0.001). In ROC analysis of GH-producing and non-GH-producing adenomas, the areas under the curves of WR, EER, and DER were 0.593, 0.825, and 0.857, respectively. Conclusion There are differences in dynamic MRI features between GH-producing and non-GH-producing adenomas, which suggests that EER and DER may be useful for diagnosing GH-producing adenomas.

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Different MRI patterns in MS worsening after stopping fingolimod

Neurology Neuroimmunology & Neuroinflammation ◽

10.1212/nxi.0000000000000566 ◽

2019 ◽

Vol 6 (4) ◽

pp. e566 ◽

Cited By ~ 5

Author(s):

Caterina Lapucci ◽

Damiano Baroncini ◽

Maria Cellerino ◽

Giacomo Boffa ◽

Ilaria Callegari ◽

...

Keyword(s):

Clinical Features ◽

Brain Mri ◽

Activity Level ◽

Lesion Volume ◽

Mri Findings ◽

Volume Increase ◽

Mri Features ◽

Disability Status ◽

The Mean

ObjectiveTo analyze MRI images in patients with MS who experienced worsening of neurologic status (WNS) after stopping fingolimod (FTY).MethodsIn this retrospective study, demographic, clinical, and radiologic data of patients with MS who experienced WNS after stopping FTY were retrospectively collected. We introduced the “δExpanded Disability Status Scale (EDSS)-ratio” to identify patients who, after FTY withdrawal, showed an inflammatory flare-up exceeding the highest lifetime disease activity level. Patients with δEDSS-ratio > 1 were enrolled in the study.ResultsEight patients were identified. The mean (SD) age of the 8 (7 female) patients was 35.3 (4.9) years. The mean FTY treatment duration was 3.1 (0.8) years. The mean FTY discontinuation–WNS interval was 4 (0.9) months. The 4 patients with δEDSS-ratio ≥ 2 developed severe monophasic WNS (EDSS score above 8.5), characterized by clinical features and MRI findings not typical of MS, which we classified as “tumefactive demyelination pattern” (TDL) and “Punctuated pattern” (PL). Conversely, patients whose δEDSS-ratio was between 1 and 2 had clinical features and brain MRI compatible with a more typical, even if aggressive, MS relapse. In patients with TDL and PL, the flare-up of inflammatory activity led to severe tissue damage resulting in T2 but also T1 lesion volume increase at 6-month follow-up.ConclusionsPeculiar MRI features (TDL and PL), different from a typical MS flare-up, might occur in some patients who experienced WNS after stopping FTY. Further studies, also involving immunologic biomarkers, are necessary to investigate TDL or PL pathophysiology.

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MRI differences between MOG antibody disease and AQP4 NMOSD

Multiple Sclerosis Journal ◽

10.1177/1352458519893093 ◽

2020 ◽

Vol 26 (14) ◽

pp. 1854-1865 ◽

Cited By ~ 4

Author(s):

Sara Salama ◽

Majid Khan ◽

Amirali Shanechi ◽

Michael Levy ◽

Izlem Izbudak

Keyword(s):

Spinal Cord ◽

White Matter ◽

Area Postrema ◽

Brain Mri ◽

White Matter Lesions ◽

Mri Findings ◽

Mri Features ◽

Clinical Presentations ◽

The Brain ◽

Aqp4 Antibody

Background: MOG antibody and AQP4 antibody seropositive diseases are immunologically distinct subtypes of neuromyelitis optica spectrum disorders (NMOSD) with similar clinical presentations. MRI findings can be instrumental in distinguishing MOG antibody disease from AQP4 antibody NMOSD. Objectives: The aim of this study is to characterize the neuroradiological differences between MOG antibody disease and AQP4 antibody NMOSD with the aim to distinguish between the two entities. Methods: This is a retrospective study of 26 MOG and 25 AQP4 seropositive patients in which MRI features of the brain, spinal cord, and orbit were compared. Results: The majority of the abnormal findings in the MOG cohort were located on orbital MRIs, while spinal cord magnetic resonance (MR) abnormalities were more common in the AQP4 cohort. Brain abnormalities showed some overlap, but cortical gray/juxtacortical white matter involvement was distinct to MOG patients, while area postrema involvement was a rare feature. Conclusion: Cortical gray/juxtacortical white matter lesions on brain MRI might help distinguish MOG antibody disease from AQP4-positive NMOSD. These findings could be of value in distinguishing the two entities as early as the first presentation.

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Brain MRI Findings in Patients with Initial Cerebral Thrombosis and the Relationship between Incidental Findings, Aging and Dementia.

Nippon Ronen Igakkai Zasshi Japanese Journal of Geriatrics ◽

10.3143/geriatrics.31.879 ◽

1994 ◽

Vol 31 (11) ◽

pp. 879-888 ◽

Cited By ~ 4

Author(s):

Toshihiko Iwamoto ◽

Toyohiro Okada ◽

Kimikazu Ogawa ◽

Kiyotaka Yanagawa ◽

Masanobu Uno ◽

...

Keyword(s):

Incidental Findings ◽

Brain Mri ◽

Cerebral Thrombosis ◽

Mri Findings ◽

The Relationship

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Magnetic Resonance Imaging of Bacterial Meningoencephalitis in a Foal

Case Reports in Veterinary Medicine ◽

10.1155/2012/402714 ◽

2012 ◽

Vol 2012 ◽

pp. 1-4 ◽

Cited By ~ 1

Author(s):

Judit Viu ◽

Lara Armengou ◽

Cristian de la Fuente ◽

Carla Cesarini ◽

Sònia Añor ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Brain Mri ◽

Mass Effect ◽

Resonance Imaging ◽

Mri Findings ◽

Cortical Areas ◽

Fluid Analysis ◽

Mri Features ◽

Magnetic Resonance Imaging Mri

Magnetic resonance imaging (MRI) in equidae suffering meningoencephalitis (ME) has not been described. The objective of this paper is to describe brain MRI findings in a foal with bacterial ME. A five-month-old, 200 kg bwt Arabian filly was referred with a history of abnormal mental status and locomotion. The filly was recumbent and obtunded, and pupillary light reflexes were sluggish, and oculocephalic movements were normally present. Ophthalmic examination revealed bilateral optic neuritis. Hematology revealed leukocytosis and neutrophilia. Cerebrospinal fluid analysis showed neutrophilic pleocytosis with intracellular bacteria. On brain MRI, there were multifocal cortical areas of mild hyperintensity on T2-weighted images (T2WI) affecting both hemispheres. The lesions had ill-delineated margins, and there was loss of differentiation between gray and white matter. Diffuse hyperintensity was also identified in the left cerebellar cortex on T2WI. Neither mass effect nor cerebral midline shift were identified. On FLAIR images, the lesions were also hyperintense and, in some areas, they seemed to coalescence to form diffuse cortical areas of hyperintensity. The MRI findings described were similar to the MRI features described in cases of humans and small animals with ME. Brain MRI can be a useful diagnostic tool in foals and small-sized equidae with intracranial disease.

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

10.21203/rs.2.21221/v1 ◽

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.

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

Stroke ◽

10.1161/str.48.suppl_1.tmp92 ◽

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 .

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Brain MRI-findings in Ph - negative myeloproliferative disorders

Terapevticheskii arkhiv ◽

10.26442/00403660.2019.07.000329 ◽

2019 ◽

Vol 91 (7) ◽

pp. 29-34 ◽

Cited By ~ 2

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.

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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 ◽

10.1186/s12883-021-02279-5 ◽

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.

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

International Journal of Molecular Sciences ◽

10.3390/ijms22084202 ◽

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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