A new family with transportinopathy: increased clinical heterogeneity

We describe a family with a novel TNPO3 mutation of limb–girdle muscular dystrophy D2 (or LGMD 1F), a rare muscle disorder with autosomal dominant inheritance, first identified in an Italo-Spanish family where the causative defect has been found to be due to TNPO3 gene mutation, encoding transportin-3 protein (TNPO3). We present the clinical, histopathological and muscle magnetic resonance imaging (MRI) features in two patients, mother and son Hungarian origin, affected by LGMD D2 and correlate their clinical, MRI and histopathological data found in this condition. The affected son presented early pelvic girdle muscle weakness and thin muscles similar to a congenital myopathy; the mother was less compromised and had an LGMD phenotype. Muscle MRI showed a very pronounced lower limb muscle atrophy in both patients. The most relevant change obtained in the child muscle biopsy was a generalized type 1 fibre atrophy. The two patients presented the same mutation, but a different phenotype has been observed in mother and son.

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Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features

Genes ◽

10.3390/genes11070716 ◽

2020 ◽

Vol 11 (7) ◽

pp. 716

Author(s):

Magdalena Mroczek ◽

Hacer Durmus ◽

Ana Töpf ◽

Yesim Parman ◽

Volker Straub

Keyword(s):

Homozygous Mutation ◽

Resonance Imaging ◽

Facial Weakness ◽

Repetitive Nerve Stimulation ◽

Turkish Origin ◽

Mri Features ◽

Muscle Magnetic Resonance Imaging ◽

Magnetic Resonance Imaging Mri ◽

Muscle Biopsies

We identified the known c.1_9del mutation in the PLEC gene in four unrelated females from consanguineous families of Turkish origin. All individuals presented with slowly progressive limb-girdle weakness without any dermatological findings, and dystrophic changes observed in their muscle biopsies. Additionally, the neurological examination revealed ptosis, facial weakness, fatigability, and muscle cramps in all four cases. In two patients, repetitive nerve stimulation showed a borderline decrement and a high jitter was detected in all patients by single-fiber electromyography. Clinical improvement was observed after treatment with pyridostigmine and salbutamol was started. We further characterize the phenotype of patients with limb-girdle muscular dystrophy R17 clinically, by muscle magnetic resonance imaging (MRI) features and by describing a common 3.8 Mb haplotype in three individuals from the same geographical region. In addition, we review the neuromuscular symptoms associated with PLEC mutations and the role of plectin in the neuromuscular junction.

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Neurofibromatosis Type 1 Presenting with Plexiform Neurofibromas in Two Patients: MRI Features

Case Reports in Medicine ◽

10.1155/2012/498518 ◽

2012 ◽

Vol 2012 ◽

pp. 1-3 ◽

Cited By ~ 2

Author(s):

Ahmet Mesrur Halefoglu

Keyword(s):

Neurofibromatosis Type 1 ◽

Autosomal Dominant ◽

Genetic Disorders ◽

Neurofibromatosis Type ◽

Plexiform Neurofibromas ◽

Mri Features ◽

History Of ◽

Magnetic Resonance Imaging Mri ◽

Distinguishing Features

Neurofibromatosis type 1 (NF1), also known as peripheral neurofibromatosis or von Recklinghausen’s disease, is one of the most common genetic disorders. It is inherited in an autosomal dominant pattern. Multiple cutaneous neurofibromas are hallmark lesions of NF1. Localized and plexiform neurofibromas of the paraspinal and sacral region are the most common abdominal neoplasms in NF1. Herein, we report two patients with a known history of NF1 presenting with multiple, extensive localized and plexiform neurofibromas. We describe the important distinguishing features of these tumors as seen on magnetic resonance imaging (MRI), including very bright signal intensity and target sign on T2 weighted images.

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MRI features of responsible contacts in vascular compressive trigeminal neuralgia and prediction modeling

Acta Radiologica ◽

10.1177/0284185120983971 ◽

2021 ◽

pp. 028418512098397

Author(s):

Yufei Zhao ◽

Jianhua Chen ◽

Rifeng Jiang ◽

Xue Xu ◽

Lin Lin ◽

...

Keyword(s):

Trigeminal Neuralgia ◽

Predictive Model ◽

Trigeminal Nerve ◽

Roc Curve ◽

Neurovascular Compression ◽

Diagnostic Efficiency ◽

Mri Features ◽

Vascular Origin ◽

Magnetic Resonance Imaging Mri ◽

Mri Characteristics

Background Multiple neurovascular contacts in patients with vascular compressive trigeminal neuralgia often challenge the diagnosis of responsible contacts. Purpose To analyze the magnetic resonance imaging (MRI) features of responsible contacts and establish a predictive model to accurately pinpoint the responsible contacts. Material and Methods Sixty-seven patients with unilateral trigeminal neuralgia were enrolled. A total of 153 definite contacts (45 responsible, 108 non-responsible) were analyzed for their MRI characteristics, including neurovascular compression (NVC) grading, distance from pons to contact (Dpons-contact), vascular origin of compressing vessels, diameter of vessel (Dvessel) and trigeminal nerve (Dtrigeminal nerve) at contact. The MRI characteristics of the responsible and non-responsible contacts were compared, and their diagnostic efficiencies were further evaluated using a receiver operating characteristic (ROC) curve. The significant MRI features were incorporated into the logistics regression analysis to build a predictive model for responsible contacts. Results Compared with non-responsible contacts, NVC grading and arterial compression ratio (84.44%) were significantly higher, Dpons-contact was significantly lower at responsible contacts ( P < 0.001, 0.002, and 0.033, respectively). NVC grading had a highest diagnostic area under the ROC curve (AUC) of 0.742, with a sensitivity of 64.44% and specificity of 75.00%. The logistic regression model showed a higher diagnostic efficiency, with an AUC of 0.808, sensitivity of 88.89%, and specificity of 62.04%. Conclusion Contact degree and position are important MRI features in identifying the responsible contacts of the trigeminal neuralgia. The logistic predictive model based on Dpons-contact, NVC grading, and vascular origin can qualitatively improve the prediction of responsible contacts for radiologists.

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Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1

Diagnostics ◽

10.3390/diagnostics11020218 ◽

2021 ◽

Vol 11 (2) ◽

pp. 218

Author(s):

Antonella Cacchione ◽

Alessia Carboni ◽

Mariachiara Lodi ◽

Rita De Vito ◽

Andrea Carai ◽

...

Keyword(s):

Neurofibromatosis Type 1 ◽

Correct Diagnosis ◽

Plexiform Neurofibroma ◽

Neurofibromatosis Type ◽

Detection Techniques ◽

Life Threatening ◽

Magnetic Resonance Imaging Mri ◽

Diagnostic Work ◽

Radiological Methods

We present a case demonstrating the performance of different radiographical imaging modalities in the diagnostic work-up of a patient with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN). The newborn boy showed an expansive-infiltrative cervical and facial mass presented with macrocrania, craniofacial disfigurement, exophthalmos and glaucoma. A computer tomography (CT) and a magnetic resonance imaging (MRI) were performed. The CT was fundamental to evaluate the bone dysmorphisms and the MRI was crucial to estimate the mass extension. The biopsy of the lesion confirmed the suspicion of PN, thus allowing the diagnosis of NF1. PN is a variant of neurofibromas, a peripheral nerves sheath tumor typically associated with NF1. Even through currently available improved detection techniques, NF1 diagnosis at birth remains a challenge due to a lack of pathognomonic signs; therefore congenital PN are recognized in 20% of cases. This case highlights the importance of using different radiological methods both for the correct diagnosis and the follow-up of the patient with PN. Thanks to MRI evaluation, it was possible to identify earlier the progressive increasing size of the PN and the possible life threatening evolution in order to perform a tracheostomy to avoid airways compression.

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SAT0332 ANTIBODIES AGAINST CYTOSOLIC 5’-NUCLEOTIDASE 1A IN SPORADIC INCLUSION BODY MYOSITIS: ASSOCIATION WITH CLINICAL AND MRI FEATURES

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2020-eular.3399 ◽

2020 ◽

Vol 79 (Suppl 1) ◽

pp. 1112.1-1112

Author(s):

R. Dejthevaporn ◽

S. Shah ◽

S. Wastling ◽

J. Thornton ◽

T. Yousry ◽

...

Keyword(s):

Inclusion Body ◽

Inclusion Body Myositis ◽

Rating Scale ◽

Fatty Infiltration ◽

Connective Tissue Diseases ◽

Diagnostic Process ◽

Antibody Testing ◽

Muscle Mri ◽

Mri Features ◽

Sporadic Inclusion Body Myositis

Background:Autoantibodies directed against cytosolic 5´-nucleotidase 1A (cN1A) have been identified in sporadic inclusion body myositis (sIBM) and other connective tissue diseases. Anti-cN1A antibodies may support the diagnostic process for sIBM as well as potentially provide clues for disease pathogenesis. Nevertheless, the utility of anti-cN1A autoantibody testing in clinical practice remains unclear and requires validation.Objectives:To investigate the association between anti-cN1A antibody status and clinical and MRI features in patients with sIBM.Methods:Data for patients fulfilling European Neuromuscular Centre (ENMC) 2011 criteria for sIBM were obtained from a natural history study database. Demographic, clinical, functional assessment, and muscle MRI data in patients with sIBM who had anti-cN1A autoantibody testing were collected and analysed. Comparisons between subgroups with anti-cN1A antibody status were performed with the Mann-Whitney or Fisher’s exact tests, as appropriate.Results:Forty-nine patients with sIBM had anti-cN1A autoantibody testing, of whom 17 (34.7%) were positive. Twelve patients had muscle MRI performed (seropositivity=5). Demographics, disease duration at antibody testing and overall disease pattern were closely matched in antibody positive and negative cohorts. Dysphagia was more common in the seropositive subgroup (77% vs 47%, p=0.070). Antibody positive patients were more severely affected with a trend to lower IBM functional rating scale (IBMFRS) scores (22.4±8.4 vs 26.7±6.4, p=0.09) with significantly worse ability to climb stairs (0.9±0.9, 1.7±1.1, p=0.02). On T1-weighted MRI more fatty infiltration was found in seropositive patients (Mercuri score: 3.0±0.8 vs 1.7±0.7, p=0.03). Short tau inversion recovery (STIR) hyperintensity was more conspicuous in seropositive patients (STIR extent score: 2.4±0.6 vs 1.4±0.7, p=0.04).Conclusion:There was a trend for more dysphagia and severity of dysphagia in seropositive patients. Differences in upper limb involvement were not seen according to IBMFRS and Medical Research Council (MRC) strength grades. Seropositive patients were more severely affected at the lower limb level, in terms of muscle weakness, physical function, MRI fatty infiltration and muscle inflammation. These results suggest positive antibody status is associated with a worse phenotype. These results have potential implications in clinical trials: whether antibody status influences treatment response should be assessed.Disclosure of Interests:Revadee Dejthevaporn: None declared, Sachit Shah: None declared, Stephen Wastling: None declared, John Thornton: None declared, Tarek Yousry: None declared, Jasper M Morrow: None declared, Pedro M Machado Consultant of: PMM: Abbvie, Celgene, Janssen, Lilly, MSD, Novartis, Pfizer, Roche and UCB, Speakers bureau: PMM: Abbvie, BMS, Lilly, MSD, Novartis, Pfizer, Roche and UCB

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Severe acute myopathy following SARS-CoV-2 infection: a case report and review of recent literature

Skeletal Muscle ◽

10.1186/s13395-021-00266-5 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Badrul Islam ◽

Mohiuddin Ahmed ◽

Zhahirul Islam ◽

S. M. Begum

Keyword(s):

High Serum ◽

High Dose ◽

Limb Weakness ◽

Case Presentation ◽

Skeletal Myopathy ◽

Potential Marker ◽

Ventilatory Failure ◽

Muscle Magnetic Resonance Imaging ◽

Magnetic Resonance Imaging Mri ◽

Dose Corticosteroid

Abstract Background SARS-CoV2 virus could be potentially myopathic. Serum creatinine phosphokinase (CPK) is frequently found elevated in severe SARS-CoV2 infection, which indicates skeletal muscle damage precipitating limb weakness or even ventilatory failure. Case presentation We addressed such a patient in his forties presented with features of severe SARS-CoV2 pneumonia and high serum CPK. He developed severe sepsis and acute respiratory distress syndrome (ARDS) and received intravenous high dose corticosteroid and tocilizumab to counter SARS-CoV2 associated cytokine surge. After 10 days of mechanical ventilation (MV), weaning was unsuccessful albeit apparently clear lung fields, having additionally severe and symmetric limb muscle weakness. Ancillary investigations in addition with serum CPK, including electromyogram, muscle biopsy, and muscle magnetic resonance imaging (MRI) suggested acute myopathy possibly due to skeletal myositis. Conclusion We wish to stress that myopathogenic medication in SARS-CoV2 pneumonia should be used with caution. Additionally, serum CPK could be a potential marker to predict respiratory failure in SARS-CoV2 pneumonia as skeletal myopathy affecting chest muscles may contribute ventilatory failure on top of oxygenation failure due to SARS-CoV2 pneumonia.

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MRI features of different types of sinonasan rhabdomyosarcomas: a series of eleven cases

Dentomaxillofacial Radiology ◽

10.1259/dmfr.20210030 ◽

2021 ◽

pp. 20210030

Author(s):

Junjie Zeng ◽

Lan Liu ◽

Jiayong Li ◽

Qiling Huang ◽

Leiming Pi ◽

...

Keyword(s):

Bone Destruction ◽

Imaging Features ◽

Resonance Imaging ◽

Bone Invasion ◽

Mri Features ◽

Different Types ◽

Magnetic Resonance Imaging Mri ◽

Haematogenous Metastasis ◽

Ethmoid Sinuses ◽

Pathological Subtypes

Objective: To retrospectively analyze magnetic resonance imaging (MRI) features of various pathological subtypes of sinonasal rhabdomyosarcoma (RMS) and explore correlations between imaging features and pathological subtypes. Methods: In total, 11 cases with embryonal, alveolar or pleomorphic sinonasal RMSs, confirmed by surgical pathology, were selected. Their characteristics and distinctive imaging features were analysed, and the correlation between pathology and imaging features was explored. Results: Bone destruction was observed in all 11 cases with RMS. Expansive growth was predominant in three alveolar and three embryonal RMS cases, and creeping growth was predominant in two alveolar, two embryonal and one pleomorphic RMS cases. Signs of residual mucosa were observed in all 11 cases, and 10 cases showed involvement of multiple sinus cavities and orbital cavities. All cases exhibited mild-to-intermediate enhancement. Conclusion: Sinonasal RMSs have the following characteristic MRI features: ethmoid sinuses and middle nasal conchae are the prevalent sites; lesions are mainly of mild enhancement; tumours exhibit signs of residual mucosa, mild-to-intermediate enhancement and frequent orbital involvement; bone invasion and bone destruction are frequently observed; and haematogenous metastasis is not as common as lymphatic metastasis. RMSs of various pathological subtypes were not significantly distinct by imaging.

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MRI features in a malignant glomus jugulare tumour

The Journal of Laryngology & Otology ◽

10.1017/s0022215100125319 ◽

1993 ◽

Vol 107 (11) ◽

pp. 1066-1069 ◽

Cited By ~ 4

Author(s):

Alexandra C. Athanassopoulou ◽

Labros L. Vlahos ◽

Athanassios D. Gouliamos ◽

Eliana D. Kailidou ◽

John G. Papailiou ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Pulmonary Metastases ◽

Distant Metastases ◽

Resonance Imaging ◽

Malignant Tumours ◽

Regional Lymph Nodes ◽

Glomus Jugulare ◽

Mri Features ◽

Magnetic Resonance Imaging Mri ◽

Glomus Jugulare Tumour

AbstractMagnetic resonance imaging (MRI) features in a case of malignant glomus jugulare tumour are reported. Chemodectomas are benign in 95 per cent of cases and malignant in five per cent. Only one case report of CT findings in this unusual CP angle tumour with pulmonary metastases has been cited in the literature.It is concluded that MRI can provide useful information about the nature of chemodectomas although it cannot dislinguish between benign and malignant tumours, except when regional lymph nodes are involved or when distant metastases exist.

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COMPARISON OF VARIOUS MRI FAT SUPPRESSION TECHNIQUES ON A WATER-FAT PHANTOM AT 1.5 T

Biomedical Engineering Applications Basis and Communications ◽

10.4015/s1016237217500156 ◽

2017 ◽

Vol 29 (02) ◽

pp. 1750015

Author(s):

Hui-Chun Wang ◽

Po-Chou Chen ◽

Chun-Hsiung Chou ◽

Cherng-Gueih Shy ◽

Jo-Chi Jao

Keyword(s):

Spin Echo ◽

Fat Suppression ◽

Time Inversion ◽

Oil In Water ◽

Iterative Decomposition ◽

The Difference ◽

Soft Tissue Diseases ◽

Magnetic Resonance Imaging Mri ◽

Fat Suppression Techniques ◽

Clinical Mri

Nowadays, magnetic resonance imaging (MRI) has been widely applied for diagnosis of soft-tissue diseases. Most clinical MRI protocols use fat suppression (FS) methods to suppress fat signal, reduce chemical shift artifacts, and increase conspicuity of lesions. To understand the advantages, disadvantages, and clinical applications of the most commonly used FS methods is an important issue. The aim of this study was to evaluate FS performance of six FS methods on a fat-water phantom at 1.5[Formula: see text]T. The six MRI methods included iterative decomposition of water and fat with echo asymmetry and least squares estimation (IDEAL), short inversion time inversion recovery (STIR), and four chemical presaturation (Chem Presat) methods. The phantom was composed of homogeneous oil-in-water emulsions with various fat contents ranging from 0 to 100% in increments of 10%. The difference between the suppressed fat fractions (FS fractions) and the true fat fractions of the phantom was used as an index of FS performance. The correlations and levels of agreement (LOAs) between the FS fractions determined using each FS method and the true fat fractions of the phantom were analyzed. From the phantom study, it was found that FSE T2 FS, STIR and IDEAL could achieve more accurate FS fractions than the other three methods. The FS fractions determined using FSE T2 FS, STIR and IDEAL were in a good agreement. On the contrary, T2-weighted spin echo Chem Presat had the most inaccurate quantification of FS fractions among these six FS methods. Both the ranks of signal-to-noise ratios (SNRs) and contrast-to-noise ratios (CNRs) of the phantom were IDEAL [Formula: see text] FSE T2 FS [Formula: see text] STIR. The FS performance of these six FS methods in clinical use needs further study.

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Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies

Frontiers in Neurology ◽

10.3389/fneur.2021.664618 ◽

2021 ◽

Vol 12 ◽

Author(s):

Eleonora Mauri ◽

Daniela Piga ◽

Alessandra Govoni ◽

Roberta Brusa ◽

Serena Pagliarani ◽

...

Keyword(s):

Ryanodine Receptor ◽

Brain Mri ◽

Fetal Brain ◽

Congenital Myopathy ◽

Receptor Type ◽

Congenital Myopathies ◽

Muscle Mri ◽

Next Generation Sequencing Ngs ◽

Generation Sequencing

Ryanodine receptor type 1-related congenital myopathies are the most represented subgroup among congenital myopathies (CMs), typically presenting a central core or multiminicore muscle histopathology and high clinical heterogeneity. We evaluated a cohort of patients affected with Ryanodine receptor type 1-related congenital myopathy (RYR1-RCM), focusing on four patients who showed a severe congenital phenotype and underwent a comprehensive characterization at few months of life. To date there are few reports on precocious instrumental assessment. In two out of the four patients, a muscle biopsy was performed in the first days of life (day 5 and 37, respectively) and electron microscopy was carried out in two patients detecting typical features of congenital myopathy. Two patients underwent brain MRI in the first months of life (15 days and 2 months, respectively), one also a fetal brain MRI. In three children electromyography was performed in the first week of life and neurogenic signs were excluded. Muscle MRI obtained within the first years of life showed a typical pattern of RYR1-CM. The diagnosis was confirmed through genetic analysis in three out of four cases using Next Generation Sequencing (NGS) panels. The development of a correct and rapid diagnosis is a priority and may lead to prompt medical management and helps optimize inclusion in future clinical trials.

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