Clinical, genetic & imaging characteristics of mediastinal paraganglioma – a case series

Author(s):  
Mark Quinn ◽  
Carroll Paul ◽  
Barbara McGowan ◽  
Mamta Joshi ◽  
Louise Izatt ◽  
...  
BMC Neurology ◽  
2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Ying Liu ◽  
Bing-Yun Wu ◽  
Zhen-Shen Ma ◽  
Juan-Juan Xu ◽  
Bing Yang ◽  
...  

2016 ◽  
Vol 3 (4) ◽  
Author(s):  
Evangelos Dimakakos ◽  
Dimitra Grapsa ◽  
Ioannis Vathiotis ◽  
Aggeliki Papaspiliou ◽  
Meropi Panagiotarakou ◽  
...  

Abstract We describe the clinical and imaging characteristics of 7 cases with polymerase chain reaction-confirmed novel influenza A H1N1 virus (pH1N1) infection who developed venous thromboembolic events (VTEs) while being hospitalized for influenza pneumonia. Pulmonary embolism (PE) without deep vein thrombosis (DVT) was observed in 6 of 7 cases (85.7%); PE with underlying DVT was found in 1 patient (14.3%).


2020 ◽  
Author(s):  
Neda Pak ◽  
Anseh Selehnia ◽  
Maayke A. W. Hunfeld ◽  
Maarten H. Lequin ◽  
Rinze F. Neuteboom ◽  
...  

Abstract Hemophagocytic lymphohistiocytosis (HLH) is a rare multisystem condition associated with uncontrolled overproduction and infiltration of lymphocytes and histiocytes predominantly in liver, lymph nodes, spleen, and central nervous system. Neuroimaging findings on MRI are fairly nonspecific and classically include periventricular white matter signal abnormalities and diffuse atrophy. Focal parenchymal lesions may demonstrate post contrast ring or nodular enhancement and calcification. However, the MR imaging characteristics can be highly variable. Here, we present two cases of HLH in infants with multiple hemorrhagic lesions mostly depicted in both thalami and basal ganglia regions. Thalamic, basal ganglia, and brain stem involvement with hemorrhagic changes in HLH are rarely described in literature. Early diagnosis of HLH may be lifesaving. Awareness of the disease is necessary to investigate its characteristic findings and avoiding a delay in diagnosis.


Pituitary ◽  
2019 ◽  
Vol 22 (5) ◽  
pp. 514-519 ◽  
Author(s):  
Joao Paulo Almeida ◽  
Corbin C. Stephens ◽  
Jennifer M. Eschbacher ◽  
Michelle M. Felicella ◽  
Kevin C. J. Yuen ◽  
...  

2017 ◽  
Vol 78 (01) ◽  
pp. e15-e19 ◽  
Author(s):  
Richard Cannon ◽  
Richard Wiggins ◽  
Benjamin Witt ◽  
Yusuf Dundar ◽  
Tawni Johnston ◽  
...  

Objectives Low-grade sinonasal sarcoma with neural and myogenic features (LGSSNMF) is a new, rare tumor. Our goal is to describe the imaging characteristics and surgical outcomes of this unique skull base malignancy. Design Retrospective case series. Setting Academic medical center. Participants There were three patients who met inclusion criteria with a confirmed LGSSNMF. Main Outcome Measures Imaging and histopathological characteristics, treatments, survival and recurrence outcomes, complications, morbidity, and mortality. Results Patients presented with diplopia, facial discomfort, a supraorbital mass, and nasal obstruction. Magnetic resonance imaging and computed tomography imaging in all cases showed an enhancing sinonasal mass with associated hyperostotic bone formation that involved the frontal sinus, invaded the lamina papyracea and anterior skull base, and had intracranial extension. One patient underwent a purely endoscopic surgical resection and the second underwent a craniofacial resection, while the last is pending treatment. All patients recovered well, without morbidity or long-term complications, and are currently without evidence of disease (mean follow-up of 2.1 years). One patient recurred after 17 months and underwent a repeat endoscopic skull base and dural resection. Conclusions The surgical outcomes and imaging of this unique, locally aggressive skull base tumor are characterized.


2022 ◽  
Vol 20 (1) ◽  
Author(s):  
Le Ma ◽  
Haimei Liu ◽  
Hanyun Tang ◽  
Zhiyong Zhang ◽  
Lixia Zou ◽  
...  

Abstract Objective The aim of this study was to evaluate demographic, clinical, laboratory, imaging, histopathology characteristics, and treatment responses of children with Chronic nonbacterial osteomyelitis (CNO). Methods Retrospective multi-center case series study of pediatric patients diagnosed with CNO treated at five tertiary centers in south China. Results Totally there were 18 patients diagnosed as CNO between 2014 and 2020. The median age of onset was 9.2 years (range 3.7–13.1) and 55.6% were female. Median delay in diagnosis was 10.9 months (range 1.0–72.0). The most frequent presenting symptoms were bone pain (100%) and fever (44.4%). Most patients had more than one lesion (median of 5, range 1–7). Most frequently affected bones were tibiofibula (88.9%) and femur (77.8%). The MRI characteristics mainly presented as bone edema and hyperintensity in bone marrow. Bone biopsy was conducted in 11 patients (61.1%) with inflammatory cells infiltration manifested as chronic osteomyelitis, and none showed bacterial infection or tumor. In treatment, non-steroid anti-inflamatory drugs (NSAIDs) is used as the first-line drug followed by steriods, methotexate (MTX), salazosulfadimidine (SASP), Bisphosphonates and TNF-α inhibitor. Two refractory cases received combination therapy with Bisphosphonates and TNF-α inhibitor, and achieved good therapeutic effect. Conclusions The present study described a multicenter series of CNO from south China and highlighted the clinical features, laboratory tests, imaging characteristics and treatment outcomes. Increasing awareness of this disease is important to decrease time to diagnosis, improve access to treatment, and reduce complications.


2020 ◽  
Author(s):  
Zhehao Lyu ◽  
Lili Liu ◽  
Huimin Li ◽  
Haibo Wang ◽  
Qi Liu ◽  
...  

Abstract Background: Collective duct carcinoma (CDC) is a highly malignant kidney tumor which is rare in clinical. We report our 12-year experience of Collecting (Bellini) duct carcinoma (CDC) and retrospectively analyzed patients and tumour characteristics, clinical manifestations, different imaging characteristics including CT, MRI and PET/CT. Methods: From January 2007 to December 2019, we retrospectively examined all renal tumors and identifed 13 cases of CDC from 3 medical centers in the northern China. All 13 patients underwent CT scan, 8 of whom underwent dynamic enhanced CT scan, 2 underwent PET/CT scan and 1 underwent MRCP examination. The lesions were divided into nephritis type and mass type according to the morphology of the tumors.Results: The study group included 10 men and 3 women, with an average age of 64.23±10.74 years old. Of these 13 patients, the main clinical manifestations include gross hematuria, flank pain or waist discomfort. The mean tumour size was 8.48 ± 2.48 cm. In this group of cases, 6 (46.2%) cases are cortical-medullary involved type, 7 (53.8%) cases are cortex-medullary-pelvis involved type. 11 (84.6%) cases were nephritis type and 2 (15.4%) cases were mass type. The lesions appeared solid or complex solid and cystic on CT and MRI. The parenchymal part of 13 CDC tumors showed isodensity or slightly higher density on unenhanced CT scan. Two patients with PET/CT showed increased radioactivity intake. Evidence of intra-abdominal metastatic disease was present on CT in 9 ( 69.2% ) cases.Conclusions: The Collecting (Bellini) duct carcinoma has its certain imaging characteristics which were different from the other renal cell carcinoma. A renal tumor should be considered as CDC when it locates in the junction zone of the renal cortex and medulla, with unclear border, slight enhancement and metastases in early stage. PET/CT can greatly enrich the key information of diagnosis, surgery and treatment options, which provide significant help to the clinic.


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Andrew Reed Reikes ◽  
Ruchi Desai

Abstract Background: The appropriate treatment of pheochromocytoma during pregnancy is crucial because, while its incidence is rare (0.007%), it is associated with increased maternal and fetal mortality1. Clinical Case: A 32 year old Caucasian primigravida female presented with intrauterine pregnancy at 25 weeks for evaluation and management of a 9 mm left adrenal mass. The patient was previously diagnosed at age 10 with Von-Hippel Lindau (VHL) syndrome and genetic testing was positive for a VHL gene mutation (Type 2C VHL). At age 14, she underwent laparoscopic adrenalectomy to excise a right sided pheochromocytoma. At age 20, imaging revealed an enhancing left adrenal mass with imaging characteristics consistent with pheochromocytoma and with catecholaminergic labs that were normal or only mildy increased to 1.5 times upper normal range. Pre-partum the patient had been experiencing periodic episodes of headaches and palpitations. She reported experiencing baseline levels of palpitations and sweating with new onset of pre-syncope and hypotension during her pregnancy. Labs revealed normal serum levels of fractionated free metanephrines. Alpha adrenergic blockade, beta adrenergic blockade, and surgery were considered but deemed unnecessary as the patient was asymptomatic, imaging indicated the left adrenal mass was stable in size, and the patient wished to avoid lifelong adrenal replacement therapy. The patient’s blood pressure and heart rate were monitored closely throughout pregnancy and the use of alpha blockade or beta blockade was not needed. The patient had an uncomplicated induced delivery at 39 weeks. MRI with contrast of abdomen performed 10 months postpartum confirmed the presence of an enhancing 8 mm lesion on the inferior pole of the left adrenal gland with imaging characteristics again consistent with pheochromocytoma. Conclusion: This case demonstrates that a conservative approach of monitoring blood pressure and heart rate can be sufficient and appropriate for management of some patients with pheochromocytoma and VHL during pregnancy. Citation: 1. ENDOCRINOLOGY IN PREGNANCY: Pheochromocytoma in pregnancy: case series and review of literature in: European Journal of Endocrinology Volume 177 Issue 2 (2017).


2021 ◽  
pp. 000313482110505
Author(s):  
Meaghan Flatley ◽  
Kyle K. Sokol ◽  
Eric M. Balent ◽  
Sara B. Placek ◽  
Joshua S. Ritenour ◽  
...  

Background: Appendicitis is a common condition affecting 7-8% of the general population. With the improvement of noninvasive imaging, the diagnostic approach and treatment algorithm for patients with clear signs and symptoms suggestive of acute appendicitis are well agreed-upon. However, patients without pathognomonic signs and symptoms, but with equivocal imaging pose a diagnostic dilemma. These patients may still have acute appendicitis and could potentially benefit from laparoscopic appendectomy. This may be especially true in the subset of patients with appendicoliths. Methods: Our case series exams a group of patients with atypical symptoms who eventually underwent appendectomy and were followed after surgery for at least a month. This case series consists of eight patients with abdominal pain accompanied by a variety of other signs and symptoms in addition to laboratory results and imagining characteristics which were nondiagnostic. These patients had initial Alvarado scores ranging from 0-6. Results: All of these patients were subsequently taken to the operating room for diagnostic laparoscopy and laparoscopic appendectomy. Of these patients, six were known to have appendicoliths based on computed tomography obtained during initial diagnostic workup. Conclusions: All patients underwent a diagnostic laparoscopy and appendectomy. Four had appendicitis and four also had resolution of their symptoms. There exist atypical presentations of appendiceal disease. Patients with abdominal pain/tenderness, even without diagnostic laboratory results or imaging characteristics, may benefit from laparoscopic appendectomy.


2017 ◽  
Vol 89 (1) ◽  
pp. 38-46 ◽  
Author(s):  
Amit Tirosh ◽  
Adi Auerbach ◽  
Belen Bonella ◽  
Phaedon D. Zavras ◽  
Elena Belyavskaya ◽  
...  

Background/Aims: Carney complex (CNC) is a rare syndrome associated with multiple tumors and several other unique manifestations. We describe the clinical, genetic, and laboratory findings in a cohort of patients with CNC and failure to thrive (FTT). Methods: A retrospective case series of pediatric patients with CNC presenting with FTT. Results: We describe a patient with infantile Cushing syndrome (CS) who presented with severe FTT and liver disease; the patient was subsequently diagnosed with CNC. This led to the realization that at least 10 other patients with CNC and FTT have been investigated in the last 22 years at the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Four of those had primary pigmented nodular adrenocortical disease (PPNAD), 2 had cardiac myxomas, and 3 had liver disease. Conclusion: Pediatric patients with CNC may present with FTT whose primary cause is variable and includes CS due to PPNAD, hepatic involvement, and other manifestations of CNC. FTT due to liver disease and/or other causes is a unique new presentation of this rare syndrome with which clinicians need to be familiar.


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