scholarly journals Hydrocephalus as the first presenting symptom of neurosarcoidosis in two patients: a diagnosis more forthcoming in the context of systemic disease

2019 ◽  
Vol 12 (8) ◽  
pp. e229903 ◽  
Author(s):  
Anna McKeever ◽  
Amanda Cox ◽  
Matthew Garnett ◽  
Nicholas G Cunniffe

Sarcoidosis is a multisystem disorder, characterised histologically by the presence of non-caseating epithelioid granulomas with exclusion of other granulomatous diseases. While the lungs and lymph nodes are affected in 90%, approximately 5% of patients have neurological involvement. The clinical manifestations of neurosarcoidosis (NS) are diverse, making diagnosis especially difficult in patients without known systemic disease. Hydrocephalus occurs in only 9% of patients with NS and although uncommon, is an important manifestation because it is associated with high morbidity and mortality. We report two cases of NS presenting with hydrocephalus, one as the first presentation of sarcoidosis and one in a patient with known multisystem sarcoidosis. The patient without systemic sarcoidosis posed the greater diagnostic challenge and followed a protracted course with multiple surgical interventions, progression of central nervous system inflammation and significant physical disability.

2021 ◽  
Vol 10 (16) ◽  
pp. 3518
Author(s):  
Luise Sophie Ammer ◽  
Thorsten Dohrmann ◽  
Nicole Maria Muschol ◽  
Annika Lang ◽  
Sandra Rafaela Breyer ◽  
...  

Patients with mucopolysaccharidoses (MPS) frequently require anaesthesia for diagnostic or surgical interventions and thereby experience high morbidity. This study aimed to develop a multivariable prediction model for anaesthesia-related complications in MPS. This two-centred study was performed by retrospective chart review of children and adults with MPS undergoing anaesthesia from 2002 until 2018. We retrieved the patients’ demographics, medical history, clinical manifestations, and indication by each anaesthesia. Multivariable mixed-effects logistic regression was calculated for a clinical model based on preoperative predictors preselected by lasso regression and another model based on disease subtypes only. Of the 484 anaesthesia cases in 99 patients, 22.7% experienced at least one adverse event. The clinical model resulted in a better forecast performance than the subtype-model (AICc 460.4 vs. 467.7). The most relevant predictors were hepatosplenomegaly (OR 3.10, CI 1.54–6.26), immobility (OR 3.80, CI 0.98–14.73), and planned major surgery (OR 6.64, CI 2.25–19.55), while disease-specific therapies, i.e., haematopoietic stem cell transplantation (OR 0.45, CI 0.20–1.03), produced a protective effect. Anaesthetic complications can best be predicted by surrogates for advanced disease stages and protective therapeutic factors. Further model validation in different cohorts is needed.


2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Pragya Shrestha ◽  
Brian Le ◽  
Brent Wagner ◽  
William Pompella ◽  
Paras Karmacharya

IgG4-related sclerosing cholangitis (IgG4-SC) is one of the most common extra-pancreatic manifestation of IgG4-related disease (IgG4-RD) and is clinically distinct from primary sclerosing cholangitis (PSC). IgG4-RD is an increasingly recognized immune-mediated fibroinflammatory systemic disease, mostly affecting middle-aged and older male populations that can affect multiple organs. The presence of extra-biliary clinical manifestations of IgG4-RD, such as parotid and lacrimal swelling, lymphadenopathy, autoimmune pancreatitis, and retroperitoneal fibrosis, if present could provide important clues to diagnosis. High serum IgG4 levels, characteristic radiological (e.g., sausage-shaped pancreas or periaortitis) or biopsy findings (high percentage of IgG4+ plasma cells, lymphoplasmacytic infiltrate, storiform fibrosis, or obliterative phlebitis) in the setting of these features is diagnostic of this disease process. However, isolated IgG4-SC might be a diagnostic challenge, and the distinction is important as management of this disorder is vastly different from other causes of cholangitis such as PSC. Systemic corticosteroid therapy is the mainstay of therapy.


F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 661
Author(s):  
Abdallah Qasim ◽  
Omar Kousa ◽  
Mohamed Mansour ◽  
Ahmad K. Aly ◽  
Dana Awad ◽  
...  

Sarcoidosis is a systemic disease with heterogeneous clinical manifestations that is characterized histologically by the presence of noncaseating granulomas in the affected organs. It can be a diagnostic challenge, especially when mimicking malignancy or fungal infections. Previous case reports of sarcoidosis presenting with multiple masses are highly suggestive of infectious or malignant etiology.  In this case, our patient presented with enlarged lymph node and was found to have innumerable nodules in the mediastinum, lungs, and liver. Azygos vein enlargement was also seen on radiological imaging, and malignancy was highly suspected; hence, an extensive workup was conducted, including laboratory, radiology and biopsy evaluation, which were diagnostic of sarcoidosis. Our case showed the importance of correlation of the history, physical examination, radiological and histopathologic studies in confirming the diagnosis and the need to rule out other serious infections and malignancies, especially with azygous vein enlargement, which can sometimes be missed in chest radiograph.


2014 ◽  
Vol 23 (2) ◽  
pp. 179-185 ◽  
Author(s):  
Suvadip Chatterjee ◽  
Kofi W. Oppong ◽  
John S. Scott ◽  
Dave E. Jones ◽  
Richard M. Charnley ◽  
...  

Background & Aims: Autoimmune pancreatitis (AIP) is a fibroinflammatory condition affecting the pancreas and could present as a multisystem disorder. Diagnosis and management can pose a diagnostic challenge in certain groups of patients. We report our experience of managing this condition in a tertiary pancreaticobiliary centre in the North East of England.Methods: Patients were identified from a prospectively maintained database of patients diagnosed with AIP between 2005 and 2013. Diagnosis of definite/probable AIP was based on the revised HISORt criteria. When indicated, patients were treated with steroids and relapses were treated with azathioprine. All patients have been followed up to date.Results: Twenty-two patients were diagnosed with AIP during this period. All patients had pancreatic protocol CT performed while some patients had either MR or EUS as part of the work up. Fourteen out of 22 (64%) had an elevated IgG4 level (mean: 10.9 g/L; range 3.4 - 31 g/L). Four (18%) patients underwent surgery. Extrapancreatic involvement was seen in 15 (68%) patients, with biliary involvement being the commonest. Nineteen (86%) were treated with steroids and five (23%) required further immunosuppression for treatment of relapses. The mean follow up period was 36.94 months (range 7 - 94).Conclusion: Autoimmune pancreatitis is being increasingly recognized in the British population. Extrapancreatic involvement, particularly extrahepatic biliary involvement seems to be a frequent feature.Diagnosis should be based on accepted criteria as this significantly reduces the chances of overlooking malignancy. Awareness of this relatively rare condition and a multi-disciplinary team approach will help us to diagnose and treat this condition more efiectively thereby reducing unnecessary interventions.


2020 ◽  
pp. 51-56
Author(s):  
V.М. Аntonyuk-Kysil ◽  
◽  
І.Y. Dziubanovskyi ◽  
V.М. Yenikeeva ◽  
S.І. Lichner ◽  
...  

The objective: to evaluate the results of planned open surgical interventions (POSI) in pregnant women with primary symptomatic chronic vein disease (PSCVD). Materials and methods. The study included 457 pregnant women operated on a routine basis with PSCVD. The patients underwent ultrasound duplex angioscanning (USDA) of the veins of the lower extremities, inguinal canals, and iliac veins. The severity of the clinical manifestations of PSCVD was evaluated on a VCSS scale. With the help of the circadian visual-analog scale, the dynamics after the operative pain were studied. The effect of POSI on uterine tone and cardiac function of the fetus was investigated using cardiotocography. When forming the results for POSI, data from USDA, the severity of clinical and cosmetic manifestations of PCVD, the need for active prevention of thrombophlebetic, thromboembolic and hemorrhagic complications, minimization of surgical childbirth were taken into account. The results of treatment were studied in 2 groups of patients. Patients of the first group were treated with conservative therapy, the second group – POSI. Parametric indicators, which were presented as mean and standard error M(SD), were used for statistical data processing of the study, and their reliability was estimated using Student’s t-test. The species was determined to be significant at p<0.05. Results. 495 POSI were performed at 28-38 weeks gestation in an obstetric hospital (perinatal center), by a vascular surgeon from the staff of the center, who was familiarized with the peculiarities of working with this contingent of patients. Surgery was performed under local anesthesia in 346 (75.49%) pregnant women at one extremity, in 111 (24.51%) – at two in one session. According to the results of the study, it was noted that in the first group 33.7% of patients had a positive clinical result due to the reduction of pain syndrome, while 67.5% of patients had an increase and spread of varicose transformation in the area of saphenous and/or non-saphenous veins with spread of pathological venous reflux in the distal direction. 78% of patients had the need to administer prophylactic doses of low molecular weight heparins, both during pregnancy and in postpartum period. Out of 126 pregnant women with pronounced varicose veins of the external genital organs and perineum in 36 (28.6%) deliveries were performed by caesarean section. In 9 (3%) patients there was an acute thrombophlebitis of the subcutaneous veins of the lower extremities, which required 5 pregnant women to undergo urgent surgery when the inflammatory process had spread to the middle and above along the femoral vein of the large subcutaneous vein. Pregnant women of the second group with PSCVD on the basis of obstetric hospital (perinatal center) POSI were performed in the organization, which laid the ideology of the FTS program, strictly individual indications for intervention in the optimal terms of pregnancy, multidisciplinary management of patients, due to this in 93% of operated patients regression of clinical manifestations of the disease was noted, whch contributed to the correct and safe delivery of pregnancy with 100% absence of preterm birth, abnormalities in fetal development, pregnancy course, negative impact on obstetric and somatic condition of the pregnant woman. No hemorrhagic, thrombophlebic, thromboembolic complications were noted. Patients in the postoperative period did not require medical support, as during the period of pregnancy, during delivery and in the postpartum period. There were no indications for surgical delivery. 2.4% of patients experienced complications of post-operative wounds in the form of cheese, which had no effect on pregnancy and was eliminated before delivery. In the postoperative period, if necessary, it was recommended to use elastic compression class garments 1–2. Conclusion. POSI made at PSCVD in optimal terms of pregnancy in a specialized obstetric hospital by a vascular surgeon in strictly individual indications is safe, both for the fetus and the pregnant woman. It is promising to further study the results of POSI in pregnant women with PSCVD to introduce it into the arsenal of treatment of this pathology. Key words: FTS ideology, planned open surgical interventions in pregnant women.


2020 ◽  
pp. 1-3
Author(s):  
Jinping Xu ◽  
Jinping Xu ◽  
Ruth Wei ◽  
Salieha Zaheer

Obturator hernias are rare but pose a diagnostic challenge with relatively high morbidity and mortality. Our patient is an elderly, thin female with an initial evaluation concerning for gastroenteritis, and further evaluation revealed bilateral incarcerated obturator hernias, which confirmed postoperatively as well as a right femoral hernia. An 83-year-old female presented to the outpatient office initially with one-day history of diarrhea and one-week history of episodic colicky abdominal pain. She returned 4 weeks later with diarrhea resolved but worsening abdominal pain and left inner thigh pain while ambulating, without changes in appetite or nausea and vomiting. Abdominal CT scan then revealed bilateral obturator hernias. Patient then presented to the emergency department (ED) due to worsening pain, and subsequently underwent hernia repair. Intraoperatively, it was revealed that the patient had bilateral incarcerated obturator hernias and a right femoral hernia. All three hernias were repaired, and patient was discharged two days later. Patient remained well postoperatively, and 15-month CT of abdomen showed no hernia recurrence.


2019 ◽  
Vol 72 (8) ◽  
pp. 1437-1441
Author(s):  
Pavel Dyachenko ◽  
Igor Filchakov ◽  
Anatoly Dyachenko ◽  
Victoria Kurhanskaya

Introduction: Viral encephalitis accounts for 40-70% of all cases worldwide, central nervous system infections pose a diagnostic challenge because clinical manifestations are not typically pathognomonic for specific pathogens, and a wide range of agents can be causative. The aim: To assess the diagnostic value of intrathecal synthesis of specific antibodies in patients with inflammatory lesions of the central nervous system. Materials and methods: Within the framework of the study, two groups of 90 people in each were formed from the patients with neuroinfections admitted to our Center. Intrathecal synthesis (ITS) of total (unspecific) IgG in members of one of group (group of compare) was determined. Brain synthesis of specific antibodies (Ab) to some neurotropic pathogens (herpes simplex virus 1/2, cytomegalovirus, Epstein-Barr virus, varicella zoster virus, rubella virus, Borrelies) was studied in the second group of patients (group of interest). There were no statistically significant differences between groups by gender and age. Encephalitis and encephalomyelitis prevailed among patients of both groups Results: ITS of total IgG was established in 30 (33.3 ± 6.1 %) patients of the first group with IgG index more than 0.6 indicating on inflammatory process in CNS and no marked changes of CSF. ITS of specific Ab was determined in 23 of 90 (25.6 ± 4.6 %) patients included into group of interest. In more than half of cases Ab to several infectious agents were detected simultaneously. ITS of various specificity, in particular, to measles and rubella viruses, and VZV, known as MRZ-reaction, is characteristic of some autoimmune lesions of CNS, multiple sclerosis first of all. In fact, further research of 5 patients with MRZ-reaction confirmed their autoimmune failure of CNS. Detection of ITS in the CSF samples didn’t depend on concentration of specific Ab in serum and CSF and wasn’t followed by HEB dysfunctions which were observed with the same frequency in patients with or without ITS (13.0 % and 13.6 % respectively). Conclusion: Specific Ab synthesis to several neurotropic pathogens in the CSF of significant part of examined patients was established. Thus, diagnostic value of ITS of specific immunoglobulins seems to be limited to cases in which autoimmune damage of the CNS is suspected.


Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 271
Author(s):  
Saverio Capodiferro ◽  
Luisa Limongelli ◽  
Gianfranco Favia

Many systemic (infective, genetic, autoimmune, neoplastic) diseases may involve the oral cavity and, more generally, the soft and hard tissues of the head and neck as primary or secondary localization. Primary onset in the oral cavity of both pediatric and adult diseases usually represents a true challenge for clinicians; their precocious detection is often difficult and requires a wide knowledge but surely results in the early diagnosis and therapy onset with an overall better prognosis and clinical outcomes. In the current paper, as for the topic of the current Special Issue, the authors present an overview on the most frequent clinical manifestations at the oral and maxillo-facial district of systemic disease.


2021 ◽  
Vol 49 (5) ◽  
pp. 030006052110122
Author(s):  
Yimin Ma ◽  
Duanming Zhuang ◽  
Zhenguo Qiao

Celiac disease (CD) is a chronic immune-mediated intestinal disease that is characterized by production of autoantibodies directed against the small intestine. The main clinical manifestations of CD are typically defined as those related to indigestion and malabsorption. These manifestations include unexplained diarrhea or constipation, abdominal pain, bloating, weight loss, anemia, failure-to-thrive in children, and decreased bone density. Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by heterogeneous clinical manifestations, which may also involve the gastrointestinal tract. Comorbidity of CD and SLE is rare, and the overlapping symptoms and nonspecific clinical presentation may pose a diagnostic challenge to clinicians. We report here a case of SLE with CD, which mainly manifested as recurrent diarrhea, uncorrectable electrolyte disorders, and severe malnutrition. Through review, we hope to further improve our understanding and diagnostic level of this combination of diseases.


2021 ◽  
Vol 10 (2) ◽  
pp. 243
Author(s):  
Matteo Piga ◽  
Laurent Arnaud

Systemic lupus erythematosus (SLE) is an immune-mediated multi-systemic disease characterized by a wide variability of clinical manifestations and a course frequently subject to unpredictable flares. Despite significant advances in the understanding of the pathophysiology and optimization of medical care, patients with SLE still have significant mortality and carry a risk of progressive organ damage accrual and reduced health-related quality of life. New tools allow earlier classification of SLE, whereas tailored early intervention and treatment strategies targeted to clinical remission or low disease activity could offer the opportunity to reduce damage, thus improving long-term outcomes. Nevertheless, the early diagnosis of SLE is still an unmet need for many patients. Further disentangling the SLE susceptibility and complex pathogenesis will allow to identify more accurate biomarkers and implement new ways to measure disease activity. This could represent a major step forward to find new trials modalities for developing new drugs, optimizing the use of currently available therapeutics and minimizing glucocorticoids. Preventing and treating comorbidities in SLE, improving the management of hard-to-treat manifestations including management of SLE during pregnancy are among the remaining major unmet needs. This review provides insights and a research agenda for the main challenges in SLE.


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