Central nervous system metastases: a rare presentation of nasopharyngeal carcinoma

2021 ◽  
Vol 14 (8) ◽  
pp. e243892
Author(s):  
Sehrish Abrar ◽  
Nasir Ali ◽  
Bilal Mazhar Qureshi ◽  
Rabia Tahseen
Keyword(s):  
Nasopharyngeal Carcinoma ◽  
Standard Treatment ◽  
Systemic Disease ◽  
Lumbar Region ◽  
Rare Presentation ◽  
Limb Weakness ◽  
Cervical Lymph Nodes ◽  
Bilateral Lower Limb ◽  
Thoracic Cord ◽  
The Brain

We report a case of a male patient. He presented with nasal obstruction and epistaxis. The MRI of the brain showed a mass in the nasopharynx and enlarged cervical lymph nodes. Besides this, there was an extra-axial, dural-based lesion in brain and subcentimetre nodules in both lungs. He received induction chemotherapy followed by chemoradiation therapy to the primary site and dural-based metastatic deposit. He re-presented with bilateral lower limb weakness. The MRI of the spine showed metastatic deposits within the thoracic cord parenchyma and meningeal deposits at the lumbar region. Palliative radiation was used to treat spinal cord and meningeal metastases. He died a few months later because of systemic disease progression. Considering the rarity of this presentation in nasopharyngeal carcinoma and lack of clear guidelines for standard treatment, we report this case to share our experience of management.

Bilateral thalamic infarction due to artery of Percheron occlusion: a case report

2022 ◽  
Vol 71 (12) ◽  
Author(s):  
Maleeha Shah ◽  
Muhammad Daniyal Nadeem ◽  
Ayesha Saleem ◽  
Muhammad Taimoor Khan ◽  
Neelam Asghar
Keyword(s):  
Cerebral Arteries ◽  
Limb Weakness ◽  
Arterial Trunk ◽  
Artery Of Percheron ◽  
Thalamic Infarction ◽  
Wide Range ◽  
Bilateral Lower Limb ◽  
Initial Imaging ◽  
The Brain ◽  
Posterior Cerebral Circulation

The artery of Percheron is a rare variant of the posterior cerebral circulation. It is characterised by a single arterial trunk that supplies blood to bilateral paramedian thalami and rostral midbrain. Its occlusion can have a very wide range of presentation, and initial imaging including CT of the head maybe normal. Diagnosis and eventual treatment is usually delayed. We describe the case of an elderly man who presented with loss of consciousness, aphasia, and bilateral lower limb weakness. He was diagnosed with bilateral thalamic infarction due to the occlusion of the artery of Percheron only after an MRI of the brain was performed. Despite treatment his symptoms did not resolve completely. Keywords: Thalamus/blood supply, Cerebral arteries, Magnetic Resonance Imaging.

scholarly journals Familial Hemophagocytic Lymphohistiocytosis Secondary to PRF1 Mutation

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Albaraa T. Alfaraidi ◽  
Abdulaziz A. Alqarni ◽  
Mohammed T. Aqeel ◽  
Turki A. Albalawi ◽  
Ahmed S. Hejazi
Keyword(s):  
Lower Limb ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Multiorgan Failure ◽  
Unknown Origin ◽  
High Fever ◽  
Intrathecal Methotrexate ◽  
Limb Weakness ◽  
Lower Limb Weakness ◽  
Bilateral Lower Limb ◽  
The Brain

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome that causes systemic inflammation which can progress to multiorgan failure and death. Symptoms and signs commonly seen in HLH include high fever, hepatosplenomegaly, pancytopenia, and hypertriglyceridemia. This report describes the 8-month clinical course of a 17-year-old male with G6PD deficiency who presented with intermittent high fever of unknown origin for 8 months accompanied by pancytopenia and bilateral lower limb weakness. A pathogenic homozygous missense mutation (c.1081A > T p.(Arg361Trp)) in the PRF1 gene was detected by whole exome sequencing (WES). The brain and the whole spine MRI showed leptomeningeal enhancement at different levels involving both the brain and the spine. Therefore, a diagnosis of familial HLH type 2 with CNS involvement was confirmed. Accordingly, treatment with dexamethasone, cyclosporin, and etoposide in addition to intrathecal methotrexate and hydrocortisone was given. The patient showed a dramatic response with significant neurological improvement of the bilateral lower limb weakness. Genetic analysis has helped the patient’s family with appropriate genetic counselling. This case highlights the importance of immediate treatment with immunosuppressants and the high clinical suspicion of physicians regarding HLH in areas where consanguinity is common.

Gene expression analysis in modeling Parkinson’s disease

2020 ◽  
pp. 103-104
Author(s):  
М.М. Руденок ◽  
А.Х. Алиева ◽  
А.А. Колачева ◽  
М.В. Угрюмов ◽  
П.А. Сломинский ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Stage ◽  
Systemic Disease ◽  
Molecular Genetic ◽  
Presymptomatic Stage ◽  
Whole Transcriptome Analysis ◽  
Whole Transcriptome ◽  
The Brain ◽  
Transcriptome Level

Несмотря на очевидный прогресс, достигнутый в изучении молекулярно-генетических факторов и механизмов патогенеза болезни Паркинсона (БП), в настоящее время стало ясно, что нарушения в структуре ДНК не описывают весь спектр патологических изменений, наблюдаемых при развитии заболевания. В настоящее время показано, что существенное влияние на патогенез БП могут оказывать изменения на уровне транскриптома. В работе были использованы мышиные модели досимптомной стадии БП, поздней досимптомной и ранней симптомной (РСС) стадиями БП. Для полнотранскриптомного анализа пулов РНК тканей черной субстанции и стриатума мозга мышей использовались микрочипы MouseRef-8 v2.0 Expression BeadChip Kit («Illumina», США). Полученные данные указывают на последовательное вовлечение транскриптома в патогенез БП, а также на то, что изменения на транскриптомном уровне процессов транспорта и митохондриального биогенеза могут играть важную роль в нейродегенерации при БП уже на самых ранних этапах. Parkinson’s disease (PD) is a complex systemic disease, mainly associated with the death of dopaminergic neurons. Despite the obvious progress made in the study of molecular genetic factors and mechanisms of PD pathogenesis, it has now become clear that violations in the DNA structure do not describe the entire spectrum of pathological changes observed during the development of the disease. It has now been shown that changes at the transcriptome level can have a significant effect on the pathogenesis of PD. The authors used models of the presymptomatic stage of PD with mice decapitation after 6 hours (6 h-PSS), presymptomatic stage with decapitation after 24 hours (24 h-PSS), advanced presymptomatic (Adv-PSS) and early symptomatic (ESS) stages of PD. For whole transcriptome analysis of RNA pools of the substantia nigra and mouse striatum, the MouseRef-8 v2.0 Expression BeadChip Kit microchips (Illumina, USA) were used. As a result of the analysis of whole transcriptome data, it was shown that, there are a greater number of statistically significant changes in the tissues of the brain and peripheral blood of mice with Adv-PSS and ESS models of PD compared to 6 h-PSS and 24 h-PSS models. In general, the obtained data indicate the sequential involvement of the transcriptome in the pathogenesis of PD, as well as the fact that changes at the transcriptome level of the processes of transport and mitochondrial biogenesis can play an important role in neurodegeneration in PD at an early stage.

scholarly journals Role of MRI evaluation in acute secondary inability to walk in children

2021 ◽  
Vol 52 (1) ◽  
Author(s):  
K. H. Sedeek ◽  
K. Aboualfotouh ◽  
S. M. Hassanein ◽  
N. M. Osman ◽  
M. H. Shalaby
Keyword(s):  
Transverse Myelitis ◽  
High Sensitivity ◽  
Acute Disseminated Encephalomyelitis ◽  
Limb Weakness ◽  
Non Invasive ◽  
Highly Sensitive ◽  
Common Causes ◽  
Bilateral Lower Limb ◽  
Severity Of The Disease

Abstract Background Acute bilateral lower limb weakness is a common problem in children which necessitates a rapid method for diagnosis. MRI is a non-invasive imaging technique that produces high-quality images of the internal structure of the brain and spinal cord. Results MRI was very helpful in reaching rapid and prompt diagnosis in children with acute inability to walk. Acute disseminated encephalomyelitis (ADEM), Guillain–Barré syndrome (GBS), and acute transverse myelitis (ATM) were the most common causes in our study. MRI proved to be of high sensitivity in detecting the lesions and reaching the diagnosis in ADEM and GBS; however, there was no significant relation between the lesions’ size, enhancement pattern, and severity of the disease or prognosis, yet in ATM the site of the lesion and number of cord segment affection were significantly related to the severity of the disease and prognosis. Conclusion MRI is a quick tool to reach the diagnosis of children with acute secondary inability to walk, and to eliminate other differential diagnosis which is essential for proper treatment and rapid full recovery. It is highly sensitive in detecting the lesions, their site and size.

scholarly journals Surgical management outcome of cerebral schistosomiasis: a case report and review of the literature

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Moayad Moawia ZainElabdin Ahmed ◽  
Haytham Hussein Mohammed Osman ◽  
Alaa Hatim Ameer Mohamed ◽  
Alaaeldin Ginawi
Keyword(s):  
Surgical Resection ◽  
Clinical Laboratory ◽  
Parasitic Infection ◽  
Differential Diagnoses ◽  
Limb Weakness ◽  
General Test ◽  
Bilateral Lower Limb ◽  
Laboratory Investigations ◽  
The Right ◽  
Antiparasitic Agents

Abstract Background Schistosomiasis is a parasitic infection that commonly affects the gastrointestinal and genitourinary tracts. Cerebral schistosomiasis is rare, and few operative cases have been reported in the literature. Diagnosis is usually challenging due to the similarity of the lesion to many other brain conditions. Treatment usually requires surgical resection combined with the use of antiparasitic agents, which often results in good outcomes and excellent prognosis. Case presentation A 24-year-old, previously healthy Afro-asiatic man presented to our neurosurgical outpatient clinic complaining of headache and an attack of convulsions. On examination, he had bilateral lower limb weakness more on the right side. Laboratory investigations including stool and urine general test results were unremarkable. Magnetic resonance imaging of the brain was performed and showed an intra-axial left parietal mass; a granulomatous lesion was suggested in the differential diagnoses. The patient underwent craniotomy and total resection of the lesion. Histopathology confirmed the presence of active cerebral Schistosoma mansoni infection. Orally administered praziquantel was initiated at a dose of 20 mg/kg twice a day for a total of 3 days along with oral administration of corticosteroids for 2 weeks. The patient improved postoperatively without residual weakness and with no further convulsions. Conclusion Cerebral schistosomiasis is a rare but important consideration in the list of differential diagnoses of cerebral space-occupying lesions. This is of particular importance in in endemic areas like Sudan. In order to reach a diagnosis, careful social and occupational history need to be obtained and correlated with the clinical, laboratory, and radiological findings. Surgical resection along with the use of proper antiparasitic agents usually provides the best clinical outcomes.

scholarly journals BSCI-20. THERAPEUTIC TARGETING OF HLA-G IN BRAIN METASTASES

2019 ◽  
Vol 1 (Supplement_1) ◽  
pp. i5-i5
Author(s):  
Sheila Singh ◽  
Blessing Bassey-Archibong ◽  
Nikoo Aghaei ◽  
Agata Kieliszek ◽  
Chitra Venugopal ◽  
...  
Keyword(s):  
Brain Metastases ◽  
Systemic Disease ◽  
Human Leukocyte ◽  
Genetic Profile ◽  
Whole Brain Radiation ◽  
Metastatic Cells ◽  
Metastatic Process ◽  
Xenograft Models ◽  
Sphere Formation ◽  
The Brain

Abstract Brain metastases (BM) are the most common brain tumor in adults, with an incidence ten times greater than that of primary brain tumors. The most common sources of BM in adult cancer patients include cancers of the lung, breast and melanoma, which together account for almost 80% of all BM. Current clinical modalities for BM include surgery, whole brain radiation therapy and stereotactic radiosurgery but these therapies still offer limited efficacy and reduced survival of only months in treated patients, emphasizing the need for novel BM research approaches and better therapeutic strategies. Our laboratory recently discovered that stem-like cells exist in patient-derived BM from lung, breast and melanoma cancers, which we termed “brain metastasis-initiating cells” or BMICs. Through clinically relevant human-mouse xenograft models established with these patient-derived BMICs, we captured lung, breast and melanoma BMICs at pre-metastasis – a key stage where circulating metastatic cells extravasate and initially seed the brain, prior to organization into micro-metastatic foci. Transcriptome analysis of pre-metastatic BMICs revealed a unique genetic profile and several genes commonly up-regulated among lung, breast and melanoma BM, including the non-classical human leukocyte class I antigen-G (HLA-G). Loss of HLA-G in lung, breast and melanoma BMICs using two HLA-G specific shRNAs attenuated sphere formation, migratory and tumor initiating abilities of lung, breast and melanoma BMICs compared to control BMICs. HLA-G knockdown also resulted in reduced phospho(p)-STAT3 expression in patient-derived BMICs suggesting a potential cooperative role between HLA-G and pSTAT3 in BM. Since HLA-G is highly expressed at the cell surface in control tumors, ongoing experiments are focused on developing HLA-G specific chimeric antigen receptor -T cells (CAR-Ts) and determining their efficacy in targeting lung-, breast- and melanoma-BM as blocking the brain metastatic process will markedly extend patient survival and ultimately transform a fatal systemic disease into a more treatable one.

Retropharyngeal abscess. A rare presentation of nasopharyngeal carcinoma

1999 ◽  
Vol 113 (1) ◽  
pp. 70-72 ◽  
Author(s):  
Martin Wai Pak ◽  
Ka Lai Chan ◽  
Charles Andrew van Hasselt
Keyword(s):  
Nasopharyngeal Carcinoma ◽  
Underlying Disease ◽  
Retropharyngeal Abscess ◽  
Advanced Stage ◽  
Rare Presentation ◽  
Adequate Treatment ◽  
Neck Abscess ◽  
Early Symptoms ◽  
Deep Neck Abscess ◽  
The Relationship

AbstractEarly symptoms of nasopharyngeal carcinoma (NPC) can often be deceptive and confusing. Most patients with nasopharyngeal carcinoma present at an advanced stage with metastatic cervical nodes present at the time of diagnosis. A deep neck abscess as the presenting feature has not been reported. We report two cases of nasopharyngeal carcinoma which presented with retropharyngeal abscesses and persistent lymphadenopathy. These two patients illustrate that refractory lymphadenopathy, despite adequate treatment of the associated infection, should prompt a search for underlying disease. The relationship between nasopharyngeal carcinoma and retropharyngeal abscess is discussed.

Factor XIII Deficiency and Intracranial Bleed: Surgical Management and Prophylaxis with Cryoprecipitate

2021 ◽  
Author(s):  
Sunil V. Furtado ◽  
Pranoy Hegde ◽  
Rasmi Palassery ◽  
B. P. Karunakara
Keyword(s):  
Factor Xiii ◽  
Perioperative Management ◽  
Severe Headache ◽  
Resonance Imaging ◽  
Factor Xiii Deficiency ◽  
Limb Weakness ◽  
High Propensity ◽  
Intracranial Bleed ◽  
The Brain ◽  
Fxiii Deficiency

AbstractFactor XIII (FXIII) deficiency is a rare bleeding disorder with affected patients having high propensity for intracranial hemorrhage. A 12-year-old girl presented with severe headache, limb weakness, and rapidly worsening sensorium over 4 days. Magnetic resonance imaging of the brain and computed tomography (CT) of the head showed intraparenchymal bleed. Patient had normal coagulation profile and abnormal FXIII level. The perioperative management included cryoprecipitate transfusion to bring the FXIII value to 74%. She underwent craniotomy and evacuation of the hematoma. Postoperatively, she received prophylaxis against rebleed with cryoprecipitate. In the absence of FXIII concentrate, correction of FXIII deficiency is possible with cryoprecipitate in emergent situations.

Possibility of osteopathic correction inclusion in the complex treatment of anal incontinence in teenagers

2021 ◽  
pp. 31-40
Author(s):  
T. S. Kovalchuk ◽  
R. R. Enaleev ◽  
Yu. O. Kuzmina
Keyword(s):  
Anal Sphincter ◽  
Anal Incontinence ◽  
Standard Treatment ◽  
Control Group ◽  
Lumbar Region ◽  
Complex Treatment ◽  
Group 16 ◽  
Sphincter Insufficiency ◽  
Severity Of The Disease ◽  
Socially Maladjusted

Introduction. Anal incontinence (insufficiency of the anal sphincter) is a disease in which there is an uncontrolled discharge of intestinal contents through the anal canal when it is impossible to keep the episode of defecation to an acceptable place, which is a socially significant problem. Patients suffering from anal incontinence experience a feeling of psychoemotional inferiority and are often socially maladjusted. Insufficiency of the anal sphincter is a widespread pathology. The course of therapy is, as a rule, complex, and usually includes the use of medications, cleansing enemas, as well as non-drug methods of treatment (exercise therapy, massage, physiotherapy). At the same time, information on the possibility of including such a method of non-drug treatment as osteopathic correction in the complex therapy of anal incontinence in the available literature has not been found.The aim of the research was to study the possibility of including osteopathic correction in the complex treatment of anal sphincter insufficiency in teenagers.Materials and methods. The study involved 32 teenagers with functional anal sphincter incontinence, aged 14–17 years, undergoing treatment in the department of surgery. The patients were divided into 2 groups by the method of simple randomization — the main group (16 people, they received osteopathic correction in addition to the standard treatment) and the control group (16 people, they received only the standard treatment). At the beginning and at the end of the study there were assessed the osteopathic status and the disease severity using the Wexner scale and the Browning–Parks scale. The obtained results were analyzed by methods of nonparametric statistics. Results. It was found that the inclusion of osteopathic correction in the complex treatment of teenagers with anal sphincter insufficiency is accompanied by a statistically significant (p<0,05) decrease in the severity of the disease. It was revealed that children suffering from anal sphincter insufficiency are characterized by a high frequency of detection of regional (pelvic region, lumbar region) and local (some skull sutures, rectum, ascending and descending colon) somatic dysfunctions. After osteopathic correction, the frequency of detecting regional and local dysfunctions in teenagers is statistically significantly lower (p<0,05) compared with children who did not receive osteopathic correction.Conclusion. The obtained results demonstrated the ability to include the osteopathic correction in the complex treatment of teenagers with anal sphincter insufficiency.

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