scholarly journals Clinical Features and Ultrasound Findings of a Rare Musculoskeletal System Disease--neuromuscular Choristomas

Author(s):  
Wen Guo ◽  
Hong Wang ◽  
Tao Chen ◽  
Wei Yang ◽  
Shu-Feng Wang ◽  
...  

Abstract Background: Neuromuscular choristomas (NMCs) as exquisitely rare developmental lesions have previously been established associated with recurrent fibromatosis after surgery, led to multiple operations, or even amputation. Yet, the report about ultrasound imaging features and clinical conditions of NMCs was rare. The purpose of this study was to describe the ultrasound features and clinical analysis of NMCs to provide suggestions to the optimal management strategy.Methods: From 2020 September to 2021 September, 7 patients with a confirmed diagnosis of NMC who underwent ultrasound examination in our department were enrolled into our study. Physical examinations were performed to detect motor deficit, sensory deficit, neuropathic pain, limb undergrowth, muscular atrophy, cavus foot and bone dysplasia. Ultrasound imaging were performed and investigated in both involved nerve and neuromuscular choristomas associated desmoid-type fibromatosis (NMC-DTF). All patients had a definite history and regular follow up. The clinical course, physical examinations, ultrasound features and pathologic results of NMC patients were analyzed.Results: Seven patients with an average age of 7.0±7.2 years (range: 2-22 years) were enrolled into our study. Nerves involved included the sciatic nerve (6 cases) and the brachial plexus (1 case). 6 patients (85.7%) presented with manifestations of limb undergrowth, 6 (85.7%) with muscular atrophy, and 5 (71.4%) with cavus foot deformity. Based upon ultrasound findings, all visible involved nerve segments presented with hypoechoic and fusiform enlargement with intraneural skeletal muscle elements. Five patients (71.4%) had NMC-DTFs at the site of the affected nerve. All NMC-DTFs were shown as hypoechoic solid lesion adjacent to the nerve and well-circumscribed. In the subset of surgery group, all 5 patients presented with progression to NMC-DTFs at the site of the NMCs. No fibromatosis was detected in the other two non-surgery patients. Conclusions: Understanding of the typical ultrasound features and clinical associated conditions would help to early diagnose the rare disease. When a potential diagnosis is made, invasive procedure like biopsy or resection might be not a good choice given frequent complication by aggressive recurrence.

2019 ◽  
pp. 184-190
Author(s):  
E. F. Khamidullina ◽  
L. Yu. Davidyan ◽  
D. R. Kasymova ◽  
A. Yu. Bogdasarov

The purpose and objectives of the study is to identify the hormonal, biochemical and ultrasound features of the gestation course in women with beneficial tumours of the uterus. Results. We conducted a complete clinical examination and prospective observation of 182 pregnant women. Of which, 98 puerperas with a verified diagnosis of uterine fibroids and/or endometriosis, which developed before gestation, but did not prevent the onset of pregnancy, were included into the main group. The comparison group included 84 women with physiological pregnancy. The studies showed that 14 pregnant women in the main group had C677T (Ala222Val) T/T mutation, while only 2 women in the comparison group had a decrease in enzyme activity due to genetic mutation. Accordingly, the homocysteine level was almost 3 times lower in the comparison group than in the main group. The women with hyperhomocisteinemia (HHC) and uterine fibroid in the main group showed the lowest estriol level and hCG level, while women without HHC had higher estriol level and hCG levels. It was found that almost all patients with HHC had subclinical hypothyroidism. Ultrasound imaging and biochemical tests at the beginning of the 2nd trimester: no ultrasound markers of fetal anomalies were identified in women from both groups; however, signs of retrochorial hematoma were detected in 57 women from the main group, which was confirmed by clinical manifestations and previous ultrasound imaging in earlier gestation periods. Conclusion. Thus, placenta formation in women with HHC and uterine fibroids is accompanied by relative hormonal insufficiency, which is clinically manifested as a threat of miscarriage in the early stages, but carrying a child is possible due to appropriate management of a patient as part of the preserving therapy. However, the issue of preventing the development of fetoplacental insufficiency is a valid one for further investigation.


2019 ◽  
Vol 12 (3) ◽  
pp. e228742
Author(s):  
Rebecca Tai ◽  
Julian Maingard ◽  
Mithun Nambiar ◽  
Kelvin Lim

Neurolymphomatosis (NL) is the infiltration of lymphocytes into the peripheral nervous system in a haematological malignancy. We describe the imaging features of NL in a patient with relapsed Burkitt-like non-Hodgkin’s lymphoma on positron emission tomography (PET) and ultrasound. Imaging features on ultrasound are infrequently described and provide useful information in helping to establish an imaging diagnosis of NL. Features of NL in our patient included intense linear fluorodeoxyglucose-18 (18FDG) uptake on PET along the affected median nerve. B-mode ultrasound demonstrated concentric tubular thickening and loss of fascicular architecture. Perineural and intraneural vascularity was present on colour Doppler ultrasound. It is important to be able to correlate ultrasound findings to features observed on 18FDG-PET as this aids in diagnosis and in guiding potential surgical biopsy.


2020 ◽  
Vol 93 (1114) ◽  
pp. 20200413
Author(s):  
Ian Pressney ◽  
Michael Khoo ◽  
Rikin Hargunani ◽  
Asif Saifuddin

Objectives: Guidelines suggest that lesions over 5 cm in dimension should be referred to a specialist sarcoma centre due to the possibility of malignancy. Few epidermal cysts (ECs) reach or exceed this size and are termed giant ECs (GECs). The purpose of this study is to report on a large series of GECs. Methods: Retrospective review of histologically proven GECs over an 8-year period. Patient demographics with MRI and ultrasound (US) appearances were evaluated. Results: A total of 14 cases were included with eight males and six females. Mean age was 51 years. 11 lesions were oval and three bi-lobed in shape, while 12 demonstrated dermal apposition. All were hyperintense on water-sensitive sequences and isointense to slightly hypointense on T1W imaging. Internal clefts were seen in 13 cases and 11 demonstrated chemical shift artefact (CSA) on MRI. On US, 12 showed well-defined linear hypoechoic clefts, with 66.6% having dis-organised compared with 33.3% peripherally located clefts. One ‘pseudo testis’ pattern and one showing irregular striped echogenicity termed novel ‘pseudo muscle’ appearance. No cases demonstrated internal vascularity on Doppler US. Conclusions: MRI signal findings of GECs are often characteristic with hyperintensity on water-sensitive sequences, dermal apposition, CSA and internal clefts while US features of disorganised or clumped hypoechoic clefts and absence of neovascularity were commonly seen. Recognition of combinations of both US and MRI features of GECs should reduce the requirement for pre-excisional needle biopsy to confirm the diagnosis. Advances in knowledge: 1. Identification of common imaging features of GECs should avoid unnecessary pre-excisional biopsy despite their large size in the appropriate MDT setting. 2. A novel ‘pseudo-muscle’ appearance is described on MRI and US.


2018 ◽  
Vol 8 (5) ◽  
pp. 809 ◽  
Author(s):  
Carlos Romero-Morales ◽  
Jaime Almazán-Polo ◽  
David Rodríguez-Sanz ◽  
Patricia Palomo-López ◽  
Daniel López-López ◽  
...  

2021 ◽  
Author(s):  
xiaofeng lu ◽  
daishun liu ◽  
xiaoyan cai ◽  
qingshong zeng ◽  
li zou ◽  
...  

Abstract Purpose To determine the ultrasound imaging characteristics of participants with bronchial anthracofibrosis (BAF) and identify clinical markers for prevention and treatment. Methods We randomly selected 1,243 participants (including 113 with BAF) who underwent bronchoscopy and treatment at our institution from April 2018 to October 2019. BAF was classified as flat, deep seated retracted, or mucosal protrusion type, based on microscopy. Ultrasound probes were used to determine the maximum thickness of the tube wall and submucosa. The average values of the submucosal and bony tissue areas of the BAF subtypes were compared. Results The BAF group included 13 participants with a history of tuberculosis (11.5%) and 57 with biofuel exposure (50.4%). The average exposure time was 17.4 ± 6.2 years; BAF accounted for 10% of bronchoscopies performed. The maximum tube-wall thicknesses of the deep-seated retracted (17.3 ± 5.7) and black protruding (19.3 ± 5.4) groups were significantly greater than that of the flat group (12.5 ± 5.0; P < 0.05). The maximum thicknesses of the submucosa in the deep-retracted (9.8 ± 3.0) and black protruding (14.5 ± 5.0) groups were significantly greater than that of the flat group (6.6 ± 3.5; P < 0.05). The ratios of bone tissue in the flat and black protruding groups were 33.3 ± 9.3% and 34.9 ± 12.1%, respectively; the ratio in the deep-seated retracted group (65.2 ± 8.7%) was significantly reduced (P < 0.05). The flat type showed no significant change (P > 0.05). Conclusion Differences in BAF airway remodeling among the different subtypes may lead to varying clinical symptoms. Analyzing the characteristics of BAF airway remodeling and the regulatory pathway may provide new clues for treatment.


2021 ◽  
Vol 8 (Supplement_1) ◽  
pp. S229-S230
Author(s):  
Fatma Hammami ◽  
Makram Koubaa ◽  
Amal Chakroun ◽  
Khaoula Rekik ◽  
Chakib Marrakchi ◽  
...  

Abstract Background Pyogenic spondylodiscitis is an infection of the intervertebral disc(s) and/or adjacent vertebrae. It might be associated with epidural involvement. We aimed to study clinical, laboratory and evolutionary features of epidural involvement complicating pyogenic spondylodiscitis. Methods We conducted a retrospective study including patients hospitalized for spondylodiscitis with epidural involvement in the infectious diseases department between 2007 and 2019. Results We included 22 patients among whom 16 were males (72.7%). The mean age was 64±11 years. Eleven patients had diabetes mellitus (50%). The onset of the disease was acute in 18 cases (81.8%) and sub-acute in 4 cases (18.2%). The median delay to diagnosis was 4 [2-13] weeks. The revealing symptoms were back pain (95.5%), fever (68.2%) and asthenia (54.5%). Motor deficit was noted in 9 cases (40.9%), sensory deficit in 4 cases (18.2%) and sphincter dysfunction in one case (4.5%). Physical examination revealed spinal tenderness (77.3%), paravertebral tenderness (22.7%) and spinal stiffness (18.2%). Blood cultures were positive in 13 cases (59.1%) represented by Staphylococcus aureus (31.8%). Elevated C-reactive protein levels (81.8%) and accelerated erythrocyte sedimentation rate (63.6%) were noted. Imaging features showed vertebral body osteolysis (81.8%), inflammation of adjacent soft tissue (81.8%), spinal cord compression (40.9%) and psoas abscess (13.6%). Along with medical treatment, immobilisation (72.7%), abscess drainage (13.6%) and surgery (9.1%) were indicated. The disease evolution was favourable in 20 cases (90.9%). Two patients were dead (9.1%). Sequelae were noted in 9 cases (40.9%) represented by back pain (31.8%) and spinal deformity (9.1%). Conclusion Spondylodiscitis complicated with epidural involvement might lead to complications and sequelae if not promptly diagnosed and treated. Disclosures All Authors: No reported disclosures


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