4H Leukodystrophy: Lessons from 3T Imaging

Abstract4H leukodystrophy is characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. With its variability in clinical symptoms, application of pattern recognition to identify specific magnetic resonance imaging (MRI) features proved useful for the diagnosis. We collected 3T MR imaging data of 12 patients with mutations in POLR3A (n = 8), POLR3B (n = 3), and POLR1C (n = 1), all obtained at the same scanner. We assessed these images and compared them with previously obtained 1.5T images in 8 patients. Novel MRI findings were myelin islets, closed eye sign, and a cyst-like lesion in the splenium. Myelin islets were variable numbers of small T1 hyperintense and T2 hypointense dots, mostly in the frontal and parietal white matter, and present in all patients. This interpretation was supported with perivascular staining of myelin protein in the hypomyelinated white matter of a deceased 4H patient. All patients had better myelination of the medial lemniscus with a relatively hypointense signal of this structure on axial T2-weighted (T2W) images (“closed eye sign”). Five patients had a small cyst-like lesion in the splenium. In 10 patients with sagittal T2W images, we also found spinal cord hypomyelination. In conclusion, imaging at 3T identified additional features in 4H leukodystrophy, aiding the MRI diagnosis of this entity.

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Clinical Features and Endolymphatic Hydrops in Patients With MRI Evidence of Hydrops

Annals of Otology Rhinology & Laryngology ◽

10.1177/0003489418819551 ◽

2018 ◽

Vol 128 (4) ◽

pp. 286-292 ◽

Cited By ~ 6

Author(s):

Suming Shi ◽

Ping Guo ◽

Wenquan Li ◽

Wuqing Wang

Keyword(s):

Diagnostic Criteria ◽

Clinical Features ◽

Clinical Characteristics ◽

Clinical Symptoms ◽

Endolymphatic Hydrops ◽

Low Frequency ◽

Clinical Severity ◽

Mri Findings ◽

Vestibular Symptoms ◽

Magnetic Resonance Imaging Mri

Objectives: The purpose of this study was to investigate the correlation between grades of endolymphatic hydrops (ELH) and clinical characteristics and determine the detailed clinical characteristics of Ménière’s disease (MD) patients with evidence of hydrops based on magnetic resonance imaging (MRI). Methods: One hundred ninety-eight MD patients (396 ears) with MRI evidence of hydrops were included. ELH grades were evaluated using the Nakashima grading standard. Correlations between the extent of ELH and clinical features were evaluated. Detailed clinical characteristics were analyzed to assess the clinical diagnostic criteria. Results: Of 198 patients, ELH was observed in 100% of cases on the clinically affected side and 8.6% of cases on the asymptomatic side. In addition, 98.5% of ELH was classified as moderate or significant grade. Low-frequency hearing loss was significantly correlated with the extent of both vestibular and cochlear hydrops, whereas the vertigo attack frequency showed no significant correlation with ELH grades. The disease duration of MD with bilateral ELH was longer than that with unilateral ELH. The clinical characteristics were variant and did not completely fit the proposed diagnostic criteria. Conclusions: MRI findings have relevance to the clinical severity, to a certain extent, but not vestibular symptoms. The proposed diagnostic criteria based on clinical characteristics may be partially effective; analysis of the detailed clinical characteristics of MD was meaningful. Diagnosis of MD based on both MRI and clinical symptoms could facilitate an early diagnosis.

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Comparison of the clinical and MRI features of patients with hepatic hemangioma, epithelioid hemangioendothelioma, or angiosarcoma

10.21203/rs.2.16278/v1 ◽

2019 ◽

Author(s):

Zhuangsheng Liu ◽

Lilei Yi ◽

Junhao Chen ◽

Ruqiong Li ◽

Keming Liang ◽

...

Keyword(s):

Vascular Endothelial Cell ◽

Measurement Data ◽

Epithelioid Hemangioendothelioma ◽

Vascular Tumors ◽

Hepatic Hemangioma ◽

Mri Findings ◽

Mri Features ◽

Rim Enhancement ◽

The Difference ◽

Magnetic Resonance Imaging Mri

Abstract Background Comparisons of hepatic epithelioid hemangioendothelioma (HEHE), hepatic hemangioma, and hepatic angiosarcoma (HAS) have rarely been reported. The purpose of our study was to analyze the clinical and magnetic resonance imaging (MRI) findings of these conditions.Methods A total of 57 patients (25 with hemangioma, 13 with HEHE, and 19 with HAS) provided hepatic vascular endothelial cell data between June 2006 and May 2017. The measurement data were represented as means±SDs. Between-group comparisons were performed using independent-samples t-tests. Count data were represented as frequencies or rates, and χ2- or Fisher’s exact tests were performed.Results The proportions of cases with circumscribed margins were 88% (22/25), 84.6% (11/3), and 31.6% (6/19) for hemangioma, HEHE, and HAS, respectively (P<0.001). HAS lesions were less likely to have circumscribed margins. The proportions of lesions with hemorrhaging were 4% (1/25), 44.4% (4/13), and 36.8% (7/13) for hemangioma, HEHE, and HAS, respectively (P=0.014). HEHE and HAS cases were more likely to show heterogeneous signals on T1-weighted (T1WI) MRI. HEHE and HAS cases were more likely to show heterogeneous signals on T2-weighted (T2WI) MRI. Centripetal enhancement was the most common pattern in vascular tumors, with proportions of 100%, 46.2% (6/13), and 68.4% (13/19) for hemangioma, HEHE, and HAS, respectively. The difference in enhancement pattern between HEHE and HAS was not significant, but rim enhancement was more common for HEHE (46.2%, 6/13).Conclusions Our study revealed clinical and imaging differences between HEHE and HAS. The platelet count (PLT) and coagulation function of the HAS group decreased, whereas the alpha-fetoprotein (AFP) level increased. The 5-year survival rate for HAS was significantly lower than that of HEHE. A higher malignancy degree indicated a more blurred lesion margin, easier occurrence of hemorrhaging, and more heterogeneous plain T1WI and T2WI signals.

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Discrepancies in the interpretation of clinical symptoms and signs in the diagnosis of multiple sclerosis. A proposal for standardization

Multiple Sclerosis Journal ◽

10.1191/1352458505ms1149oa ◽

2005 ◽

Vol 11 (2) ◽

pp. 227-231 ◽

Cited By ~ 23

Author(s):

Bernard MJ Uitdehaag ◽

Ludwig Kappos ◽

Lars Bauer ◽

Mark S Freedman ◽

David Miller ◽

...

Keyword(s):

Multiple Sclerosis ◽

Demyelinating Disease ◽

Clinical Symptoms ◽

Clinical Findings ◽

Large Trial ◽

Mri Findings ◽

Mcdonald Criteria ◽

Magnetic Resonance Imaging Mri ◽

Eligibility Assessment

The new McDonald diagnostic criteria for multiple sclerosis (MS) incorporate detailed criteria for the interpretation and classification of magnetic resonance imaging (MRI) findings, but, in contrast, provide no instructions for the interpretation of clinical findings. Because MS according to the McDonald criteria is one of the primary endpoints in a large trial enrolling patients after the first manifestation suggestive for a demyelinating disease (BENEFIT study), it was decided to organize a centralized eligibility assessment for this trial. During this eligibility assessment it was observed that there were marked inconsistencies in the decisions of participating neurologists with respect to the classification of clinical symptoms as being caused by one or more lesions provoking discussions in about one in every five patients. This paper describes these inconsistencies and their sources, and recommends a systematic approach that attempts to reduce the variability in interpreting clinical findings.

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Volume of white matter hyperintensities increases with blood pressure in patients with hypertension

Journal of International Medical Research ◽

10.1177/0300060519858023 ◽

2019 ◽

Vol 47 (8) ◽

pp. 3681-3689 ◽

Cited By ~ 2

Author(s):

Yu Zhao ◽

Zunyu Ke ◽

Wenbo He ◽

Zhiyou Cai

Keyword(s):

Blood Pressure ◽

White Matter ◽

White Matter Hyperintensities ◽

Clinical Analysis ◽

Primary Diagnosis ◽

Mri Findings ◽

Scale Scores ◽

History Of ◽

Magnetic Resonance Imaging Mri ◽

Fazekas Scale

Objective Hypertension is a risk factor for development of white matter hyperintensities (WMHs). However, the relationship between hypertension and WMHs remains obscure. We sought to clarify this relationship using clinical data from different regions of China. Methods We analyzed the data of 333 patients with WMHs in this study. All included patients underwent conventional magnetic resonance imaging (MRI) examination. A primary diagnosis of WMHs was made according to MRI findings. The volume burden of WMHs was investigated using the Fazekas scale, which is widely used to rate the degree of WMHs. We conducted retrospective clinical analysis of the data in this study. Results Our findings showed that WMHs in patients with hypertension were associated with diabetes, cardiovascular diseases, history of cerebral infarct, and plasma glucose and triglyceride levels. Fazekas scale scores for WMHs increased with increased blood pressure values in patients with hypertension. Conclusion This analysis indicates that hypertension is an independent contributor to the prevalence and severity of WMHs.

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Cerebral schistosomiasis: MRI features with pathological correlation

Acta Radiologica ◽

10.1177/0284185120934475 ◽

2020 ◽

pp. 028418512093447

Author(s):

Chun-yan Lu ◽

Sha Zhao ◽

Yi Wei

Keyword(s):

Magnetic Resonance Imaging ◽

Brain Area ◽

Pathological Findings ◽

Resonance Imaging ◽

Mri Findings ◽

Mri Features ◽

Cerebral Involvement ◽

Magnetic Resonance Imaging Mri ◽

The Brain ◽

Radiology And Pathology

Background Neuroschistosomiasis is not commonly encountered and is probably underrecognized. We hope these findings can help clinicians and radiologists to raise awareness of this disabling disorder. Purpose To demonstrate the magnetic resonance imaging (MRI) findings of cerebral schistosomiasis and correlate it with pathological findings. Material and Methods We identified seven patients with cerebral schistosomiasis from radiology and pathology archives of our hospital. Of the seven patients, six were pathologically confirmed. The remaining patient had pathologically confirmed spinal schistosomiasis with MRI findings of cerebral involvement. MRI and pathological findings of these patients were analyzed and correlated. Results Multiple enhancing nodules at varying size were found in all patients. Prominent leptomeningeal or choroidal veins were found in six patients, four at the center of the foci and two at the periphery. Hemorrhage was identified in two patients. Histology revealed granulomas around ova in six patients. A prominent vein with ova in the lumen and wall of a vein was found in one patient and perivascular ova deposition was found in one patient. Conclusion Multiple enhancing nodules with central or peripheral veins in a circumscribed brain area are important signs to the diagnosis of cerebral schistosomiasis. The inflamed veins involved may be the route taken by the ova to spread to the brain tissue.

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Diverse MRI findings and clinical outcomes of acute Marchiafava-Bignami disease

Acta Radiologica ◽

10.1177/0284185120943040 ◽

2020 ◽

pp. 028418512094304

Author(s):

Wei Li ◽

Chao Ran ◽

Jun Ma

Keyword(s):

Clinical Outcomes ◽

Clinical Manifestations ◽

Acute Onset ◽

Restricted Diffusion ◽

Type I ◽

Type Ii ◽

Mri Findings ◽

Type Iii ◽

Mri Features ◽

Magnetic Resonance Imaging Mri

Background The acute onset of Marchiafava-Bignami disease (MBD) is difficult to capture, and its clinical manifestations are overlapped. Magnetic resonance imaging (MRI) is very useful in the diagnosis of acute MBD. Purpose To investigate the MRI features and clinical outcomes of acute MBD. Materials and Methods Sagittal T2-weighted (T2W) or T1-weighted (T1W) imaging, axial T1W and T2W imaging, and axial FLAIR and diffusion-weighted imaging (DWI) sequences were performed in 17 patients with acute MBD on 1.5-T MR. According to the different ranges of callosal restricted diffusion, MBD was divided into Type I (n = 7, the completely involved), Type II (n = 5, the mostly involved), and Type III (n = 5, the partly involved). The MRI findings and outcomes of each type were retrospectively analyzed. Results With the reduced range of the callosal restricted diffusion, the callosal atrophy or cavitation was more common: no case of Type I; 1 (20%) case of Type II; and 3 (60%) cases of Type III. With the increased range of callosal restricted diffusion, the extracallosal involvement was more common: 6 (86%) cases of Type I; 3 (60%) cases of Type II; and 1 (20%) case of Type III. During the follow-up, five cases had neuropsychiatric sequelae: 1 (14%) case of type I; 1 (20%) case of Type II; 3 (60%) cases of Type III. Conclusion The MRI findings and clinical outcomes of acute MBD are regular. The extensive restricted diffusion of acute MBD may present the curable condition. Callosal heterogeneity may affect the outcome of acute MBD.

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Comparison of the Usefulness of CBCT and MRI in TMD Patients According to Clinical Symptoms and Age

Applied Sciences ◽

10.3390/app10103599 ◽

2020 ◽

Vol 10 (10) ◽

pp. 3599

Author(s):

Kug Jin Jeon ◽

Chena Lee ◽

Yoon Joo Choi ◽

Sang-Sun Han

Keyword(s):

Clinical Symptoms ◽

Mouth Opening ◽

Temporomandibular Joint Disorders ◽

Joint Effusion ◽

Type I ◽

Mri Findings ◽

Type Iv ◽

Temporomandibular Joints ◽

Number Of Patients ◽

Magnetic Resonance Imaging Mri

Recently, the number of patients who visit the hospital with symptoms of temporomandibular joint disorders (TMD) has been gradually increasing, and the need for special imaging such as cone-beam computed tomography (CBCT) and magnetic resonance imaging (MRI) is increasing for accurate diagnosis and treatment. The purpose of this study was to help the image guideline by comparing the usefulness of CBCT and MRI according to the clinical symptoms of TMD patients and further examining whether the usefulness varies with age. A total of 473 temporomandibular joints (TMJs) with clinical symptoms of TMD who underwent both CBCT and MRI examinations were retrospectively reviewed. Clinical symptoms included pain, sound and limited mouth opening. The CBCT findings included sclerosis, flattening, erosion and osteophyte, while the MRI findings were defined as disc deformity, disc derangement or joint effusion. Joints were divided according to the presence of CBCT and MRI findings as follows: type I (neither CBCT nor MRI findings), type II (only CBCT findings), type III (only MRI findings) and type IV (both CBCT and MRI findings). We assessed the usefulness of the two imaging modalities by comparing the frequency of those four groups according to clinical symptoms and age. In TMD patients with the clinical symptoms, MRI and CBCT are complementary, but if it is difficult to choose the first of these two modalities, MRI is more recommended, and the younger the patient, the more the MRI is recommended.

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The utility of dynamic MRI in differentiating the hormone-producing ability of pituitary adenomas

Japanese Journal of Radiology ◽

10.1007/s11604-021-01121-9 ◽

2021 ◽

Author(s):

Taishi Amano ◽

Tomohiko Masumoto ◽

Hiroyoshi Akutsu ◽

Noriaki Sakamoto ◽

Sodai Hoshiai ◽

...

Keyword(s):

Pituitary Adenomas ◽

Dynamic Mri ◽

Thyroid Stimulating Hormone ◽

Washout Rate ◽

Mri Findings ◽

Mean Values ◽

Mri Features ◽

Magnetic Resonance Imaging Mri ◽

The Relationship ◽

Tissue Enhancement

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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A case of chronic progressive Lyme encephalitis as a manifestation of late Lyme neuroborreliosis

Infectious Disease Reports ◽

10.4081/idr.2014.5496 ◽

2014 ◽

Vol 6 (4) ◽

Cited By ~ 2

Author(s):

Vivek Verma ◽

Matthew Roman ◽

Disha Shah ◽

Marina Zaretskaya ◽

Mohamed H. Yassin

Keyword(s):

White Matter ◽

Short Term Memory ◽

Treatment Options ◽

Chronic Fatigue ◽

Short Term ◽

Mri Findings ◽

White Matter Changes ◽

Neurological Improvement ◽

Magnetic Resonance Imaging Mri

A 54-year-old female living in Europe presented with gait ataxia, dizziness, and bilateral hearing loss. Magnetic resonance imaging (MRI) revealed non-specific white matter changes. The patient’s condition gradually deteriorated over two years without diagnosis. The patient continued to decline cognitively and neurologically with worsening ataxia and upper motor neuron signs. Repeat MRI showed worsening white matter changes. Lumbar puncture, not previously done, showed positive Lyme testing. Treatment with intravenous ceftriaxone resulted in marked neurological improvement. Four years after symptom, the patient has short-term memory deficits and chronic fatigue, but is otherwise neurologically, cognitively, and functionally intact. Follow up MRI findings remain largely unchanged. Because cases of intraparenchymal or encephalopathic neuroborreliosis in America are lacking, so are treatment options. We present a rare case and discuss our experience with antibiotic treatment. This case lends evidence to define optimal treatment of this disease, imperative for hastening neurological recovery.

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Joint ex vivo MRI and histology detect iron-rich cortical gliosis in Tau and TDP-43 proteinopathies

10.1101/2021.04.14.439064 ◽

2021 ◽

Author(s):

M. Dylan Tisdall ◽

Daniel T Ohm ◽

Rebecca Lobrovich ◽

Sandhitsu R Das ◽

Gabor Mizsei ◽

...

Keyword(s):

Clinical Symptoms ◽

Ex Vivo ◽

Cortical Layer ◽

Heme Iron ◽

Therapeutic Trials ◽

Hyperintense Signal ◽

Mri Features ◽

Healthy Control ◽

Hypointense Signal

Frontotemporal lobar degeneration (FTLD) is a heterogeneous spectrum of age-associated neurodegenerative diseases that include two main pathologic categories of tau (FTLD-Tau) and TDP-43 (FTLD-TDP) proteinopathies. These distinct proteinopathies are often clinically indistinguishable during life, posing a major obstacle for diagnosis and emerging therapeutic trials tailored to disease-specific mechanisms. Moreover, MRI-derived measures have had limited success to date discriminating between FTLD-Tau or FTLD-TDP. T2*-weighted (T2*w) ex vivo MRI has previously been shown to be sensitive to non-heme iron in healthy intracortical lamination and myelin, and to pathological iron deposits in amyloid-beta plaques and activated microglia in Alzheimer's disease (AD). However, an integrated, ex vivo MRI and histopathology approach is understudied in FTLD. We apply joint, whole-hemisphere ex vivo MRI at 7T and histopathology to the study autopsy-confirmed FTLD-Tau (n=3) and FTLD-TDP (n=2), relative to an AD disease-control brain with antemortem clinical symptoms of frontotemporal dementia and an age-matched healthy control. We detect distinct laminar patterns of novel iron-laden glial pathology in both FTLD-Tau and FTLD-TDP brains. We find iron-positive ameboid and hypertrophic microglia and astrocytes largely in deeper GM and adjacent WM in FTLD-Tau. In contrast, FTLD-TDP presents prominent superficial cortical layer iron reactivity in astrocytic processes enveloping small blood vessels with limited involvement of adjacent WM, as well as more diffuse distribution of punctate iron-rich dystrophic microglial processes across all GM lamina. This integrated MRI/histopathology approach reveals ex vivo MRI features that are consistent with these pathological observations distinguishing FTLD-Tau and FTLD-TDP, including prominent irregular hypointense signal in deeper cortex in FTLD-Tau whereas FTLD-TDP showed upper cortical layer hypointense bands and diffuse cortical speckling. Moreover, differences in adjacent WM degeneration and iron-rich gliosis on histology between FTLD-Tau and FTLD-TDP were also readily apparent on MRI as hyperintense signal and irregular areas of hypointensity, respectively that were more prominent in FTLD-Tau compared to FTLD-TDP. These unique histopathological and radiographic features were distinct from HC and AD brains, suggesting that iron-sensitive T2*w MRI, adapted to in vivo application at sufficient resolution, may offer an opportunity to improve antemortem diagnosis of FTLD proteinopathies using tissue-validated methods.

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