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 Superficial siderosis: Case report and literature review

2013 ◽  
Vol 141 (3-4) ◽  
pp. 219-222
Author(s):  
Nikola Kresojevic ◽  
Igor Petrovic ◽  
Natasa Dragasevic­Miskovic ◽  
Vladimir Kostic
Keyword(s):  
Spinal Cord ◽  
Hearing Loss ◽  
Mr Imaging ◽  
Brain Mri ◽  
Therapeutic Interventions ◽  
Superficial Siderosis ◽  
Mri Findings ◽  
Hand Tremor ◽  
Hemosiderin Deposition ◽  
Clinical Triad

Introduction. Superficial siderosis (SS) is caused by chronic subarachnoid bleeding and is characterized by free iron and hemosiderin deposition along the pial and subpial structures of central nervous system. SS leads to progressive and irreversible CNS damage. The most common causes of chronic subarachnoidal bleeding are tumors, head and spinal cord trauma, arteriovenous malformations and aneurysms. SS is characterized by clinical triad: sensorineural hearing loss, cerebellar ataxia and piramydal signs. Brain MR imaging is the investigation of choice for the diagnosis of SS. Typical findings include hypointensities seen on T2?weighted MR imaging around the brain, cerebellum, brain stem, spinal cord, VIII cranial nerve and atrophy of cerebellum and medulla. Case Outline. A 71-year?old female patient noticed hand tremor in the middle of the third decade of life, and later slowly progressive bilateral hearing loss. At the age of 64 she developed un? steady gate, hand clumsiness and dysarthria, to became incapable of independent walking and standing five years later. Clinical course and brain MRI findings were typical for SS, but additional investigation did not reveal the couse of subarahnoidal bleeding. Conclusion. SS represents a rare and under?recognized condition that must be considered in all patients with cerebellar syndrome of unknown cause. Early diagnosis of SS in some cases with identified cause of chronic bleeding allowes therapeutic interventions that may prevent further progression of the disease.

scholarly journals MR Imaging Features of Orbital Langerhans Cell Histiocytosis

2019 ◽  
Author(s):  
chunnan wu ◽  
xuetao Mu ◽  
yan Hei ◽  
pengyu lan ◽  
kuncheng li
Keyword(s):  
Mr Imaging ◽  
Diagnostic Accuracy ◽  
Langerhans Cell Histiocytosis ◽  
Clinical Manifestations ◽  
Langerhans Cell ◽  
Imaging Features ◽  
Mri Findings ◽  
Palpable Mass ◽  
Orbital Roof ◽  
Mri Features

Abstract Background: To investigate the magnetic resonance imaging (MRI) features of orbital Langerhans cell histiocytosis (LCH) to improve diagnostic accuracy. Methods: We retrospectively reviewed clinical manifestations and MRI findings of 23 patients with histology-confirmed LCH of the orbit. The findings were evaluated for the following: (a) symptoms, (b) disease duration，(c) location, (d) configuration, (e) margin, (f) MR imaging signal intensity and enhanced performance. Results: Eighteen patients (78%) in our series were male, only five (22%) patients were female, and the mean age at presentation was 6.3 years. The common symptoms include swollen eyelids, exophthalmos, and a palpable mass. Fourteen patients presented with swollen eyelids and/or exophthalmos. Twenty-two cases involved unilateral orbits, and one case involved bilateral orbits. In our study, there was one patient with cough and expectoration, and one patient with polydipsia and polyuria. Lesions were located in the superior or superlateral orbital roof of seventeen patients (74%). Lesions formed masses or irregular shapes. The majority of lesions appeared heterogeneous isointense and iso-hypointense on T1-weighted imaging and hyper-hypointense mixed signals on T2-weighted imaging. The appearance of hemorrhage and cystic change were usually seen in lesions. After enhancement, majority lesions presented marked enhancement at the edges and the surrounding tissues, and with heterogeneous obvious enhancement of the lesion center. Besides, several lesions were surrounded by a low circular signal. Conclusion: There were several characteristics MRI features that can provide crucial information for clinicians and improve our understanding and the diagnostic accuracy of the orbital LCH

scholarly journals MR imaging features of orbital Langerhans cell Histiocytosis

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Chunnan Wu ◽  
Kuncheng Li ◽  
Yan Hei ◽  
Pengyu Lan ◽  
Xuetao Mu
Keyword(s):  
Mr Imaging ◽  
Diagnostic Accuracy ◽  
Langerhans Cell Histiocytosis ◽  
Clinical Manifestations ◽  
Langerhans Cell ◽  
Imaging Features ◽  
Mri Findings ◽  
Palpable Mass ◽  
Hyperintense Signal ◽  
Mri Features

Abstract Background To investigate the magnetic resonance imaging (MRI) features of orbital Langerhans cell histiocytosis (LCH) to improve diagnostic accuracy. Methods We retrospectively reviewed clinical manifestations and MRI findings of 23 patients with histopathology-confirmed LCH of the orbit. The findings were evaluated for the following: (a) symptoms, (b) disease duration, (c) location, (d) configuration, (e) margin, (f) MR imaging signal intensity and enhanced performance. Results Eighteen patients (78%) in our series were male, only five (22%) patients were female, and the mean age at presentation was 6.3 years. The common symptoms include swollen eyelids, exophthalmos, and a palpable mass. Fourteen patients presented with swollen eyelids and/or exophthalmos. Twenty-two cases involved unilateral orbits, and one case involved bilateral orbits. In our study, there was one patient with cough and expectoration, and one patient with polydipsia and polyuria. Lesions were located in the superior or superlateral orbital roof of seventeen patients (74%). Lesions formed masses or irregular shapes. The 12 out of 23 (52.2%) cases appeared heterogeneous isointense and 10 out of 23 (43.5%) cases showed iso-hypointense on T1-weighted imaging, there were 15 out of 23 (65.2%) cases showed hyper-hypointense mixed signals on T2-weighted imaging. 7 cases found patchy hyperintense signal on T1WI, and 11 cases showed markedly hyperintense signal near the edge of lesions on T2WI. After enhancement, 21 out of 23 (91.3%) cases lesions presented marked enhancement at the edges and the surrounding tissues, and with heterogeneous obvious enhancement of the lesion center. Besides, four cases lesions were surrounded by a low circular signal. Conclusion There were several characteristics MRI features that can provide crucial information for clinicians and improve our understanding and the diagnostic accuracy of the orbital LCH.

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 MR Imaging Features of Orbital Langerhans Cell Histiocytosis

2019 ◽  
Author(s):  
chunnan wu ◽  
xuetao Mu ◽  
yan Hei ◽  
pengyu lan ◽  
kuncheng li
Keyword(s):  
Mr Imaging ◽  
Diagnostic Accuracy ◽  
Langerhans Cell Histiocytosis ◽  
Clinical Manifestations ◽  
Langerhans Cell ◽  
Imaging Features ◽  
Mri Findings ◽  
Palpable Mass ◽  
Hyperintense Signal ◽  
Mri Features

Abstract Background: To investigate the magnetic resonance imaging (MRI) features of orbital Langerhans cell histiocytosis (LCH) to improve diagnostic accuracy. Methods: We retrospectively reviewed clinical manifestations and MRI findings of 23 patients with histopathology-confirmed LCH of the orbit. The findings were evaluated for the following: (a) symptoms, (b) disease duration，(c) location, (d) configuration, (e) margin, (f) MR imaging signal intensity and enhanced performance. Results: Eighteen patients (78%) in our series were male, only five (22%) patients were female, and the mean age at presentation was 6.3 years. The common symptoms include swollen eyelids, exophthalmos, and a palpable mass. Fourteen patients presented with swollen eyelids and/or exophthalmos. Twenty-two cases involved unilateral orbits, and one case involved bilateral orbits. In our study, there was one patient with cough and expectoration, and one patient with polydipsia and polyuria. Lesions were located in the superior or superlateral orbital roof of seventeen patients (74%). Lesions formed masses or irregular shapes. The 12 out of 23 (52.2%)cases appeared heterogeneous isointense and 10 out of 23 (43.5%) cases showed iso-hypointense on T1-weighted imaging, there were 15 out of 23 (65.2%) cases showed hyper-hypointense mixed signals on T2-weighted imaging. 7 cases found patchy hyperintense signal on T1WI, and 11 cases showed markedly hyperintense signal near the edge of lesions on T2WI. After enhancement, 21 out of 23 (91.3%) cases lesions presented marked enhancement at the edges and the surrounding tissues, and with heterogeneous obvious enhancement of the lesion center. Besides, four cases lesions were surrounded by a low circular signal. Conclusion: There were several characteristics MRI features that can provide crucial information for clinicians and improve our understanding and the diagnostic accuracy of the orbital LCH.

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

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Linfeng Yang ◽  
Bin Guo ◽  
Xue Li ◽  
Xiangyu Liu ◽  
Xinhong Wei ◽  
...  
Keyword(s):  
Brain Mri ◽  
Methylmalonic Acidemia ◽  
Mri Findings ◽  
Mri Features ◽  
The Relationship

scholarly journals MR Imaging Features of Orbital Langerhans Cell Histiocytosis

2019 ◽  
Author(s):  
chunnan wu ◽  
xuetao Mu ◽  
yan Hei ◽  
pengyu lan ◽  
kuncheng li
Keyword(s):  
Mr Imaging ◽  
Diagnostic Accuracy ◽  
Langerhans Cell Histiocytosis ◽  
Clinical Manifestations ◽  
Langerhans Cell ◽  
Imaging Features ◽  
Mri Findings ◽  
Palpable Mass ◽  
Hyperintense Signal ◽  
Mri Features

Abstract Background: To investigate the magnetic resonance imaging (MRI) features of orbital Langerhans cell histiocytosis (LCH) to improve diagnostic accuracy. Methods: We retrospectively reviewed clinical manifestations and MRI findings of 23 patients with histopathology-confirmed LCH of the orbit. The findings were evaluated for the following: (a) symptoms, (b) disease duration，(c) location, (d) configuration, (e) margin, (f) MR imaging signal intensity and enhanced performance. Results: Eighteen patients (78%) in our series were male, only five (22%) patients were female, and the mean age at presentation was 6.3 years. The common symptoms include swollen eyelids, exophthalmos, and a palpable mass. Fourteen patients presented with swollen eyelids and/or exophthalmos. Twenty-two cases involved unilateral orbits, and one case involved bilateral orbits. In our study, there was one patient with cough and expectoration, and one patient with polydipsia and polyuria. Lesions were located in the superior or superlateral orbital roof of seventeen patients (74%). Lesions formed masses or irregular shapes. The 12 out of 23 (52.2%)cases appeared heterogeneous isointense and 10 out of 23 (43.5%) cases showed iso-hypointense on T1-weighted imaging, there were 15 out of 23 (65.2%) cases showed hyper-hypointense mixed signals on T2-weighted imaging. 7 cases found patchy hyperintense signal on T1WI, and 11 cases showed markedly hyperintense signal near the edge of lesions on T2WI. After enhancement, 21 out of 23 (91.3%) cases lesions presented marked enhancement at the edges and the surrounding tissues, and with heterogeneous obvious enhancement of the lesion center. Besides, four cases lesions were surrounded by a low circular signal. Conclusion: There were several characteristics MRI features that can provide crucial information for clinicians and improve our understanding and the diagnostic accuracy of the orbital LCH.

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

1994 ◽  
Vol 31 (11) ◽  
pp. 879-888 ◽  
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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