scholarly journals Charcot osteoarthropathy of the knee secondary to neurosyphilis: a rare condition managed by a challenging arthrodesis

2018 ◽  
pp. bcr-2018-225337 ◽  
Author(s):  
Alfredo Figueiredo ◽  
Rui Ferreira ◽  
Carlos Alegre ◽  
Fernando Fonseca
1976 ◽  
Vol 36 (03) ◽  
pp. 495-502 ◽  
Author(s):  
Geoffrey Mendelsohn ◽  
Edward D. Gomperts ◽  
Dennis Gurwitz

SummaryInherited antithrombin III (AT-II, heparin cofactor) deficiency is a rare condition, presenting with thrombotic disease in adult life. This paper reports an 8 months old South African Black male infant with multiple large vessel venous and arterial thromboses, and E. coli septicaemia. This was associated with an extremely low plasma AT-II level. Micronodular cirrhosis and intracytoplasmic hyaline globules in the liver cells were present. These globules were eosinophilic, and PAS-positive after diastase. They measured approximately 5 μ to 30 μ in diameter, occurred singly in the liver cells and were located mainly in the periportal areas. The histological findings in the liver are similar to those observed in α1-antitrypsin (AAT) deficiency in which the intracytoplasmic globules represent accumulation of altered AAT. Immunochemical studies carried out on formalin fixed tissue failed to detect cross reaction material with anti-α1 antitrypsin or anti-AT III antiserum. This is the first case report of AT-III deficiency presenting in infancy. It is also the first case associated with distinctive liver pathology.The available data presented are insufficient to distinguish between an inborn defect and acquired causes of the severely depressed AT-III plasma level and the distinctive liver pathology.


Author(s):  
Spyros Papadoulas ◽  
Konstantinos Moulakakis ◽  
Natasa Kouri ◽  
Petros Zampakis ◽  
Stavros K. Kakkos

AbstractWe present a patient suffering from a stroke with a free-floating thrombus extending up to the distal internal carotid artery. The thrombus was totally resolved after a 2-week anticoagulation regimen without leaving behind any severe residual stenosis in the carotid bulb. The optimal treatment of this rare condition remains uncertain. We report some important treatment strategies that have been used in the literature, emphasizing the anticoagulation as the mainstay of therapy. Immediate surgical and interventional manipulations carry the risk of thrombus dislodgement and embolization and should be considered if there are recurrent symptoms despite medical management.


2019 ◽  
Vol 98 (7) ◽  
pp. 291-296

Introduction: Fournier’s gangrene is a rare but fast deteriorating and serious condition with high mortality. In most cases, it is characterized as necrotizing fasciitis of the perineum and external genitals. Amyand’s hernia is a rare condition where the appendix is contained in the sac of an inguinal hernia. Inflammatory alterations in the appendix account only for 0.1 % of the cases when Amyand’s hernia is verified. Fournier’s gangrene as a complication of a late diagnosis of appendicitis located in the inguinal canal is described in the literature as rare case reports. Case report: The case report of a 70-year-old patient with Fournier’s gangrene resulting from gangrenous appendicitis of Amyand’s hernia. Conclusion: Fournier’s gangrene as a complication of Amyand’s hernia is a rare condition. Only sporadic case reports thereof can be found in the literature. Because of the rarity of this pathology and the lack of randomized controlled studies, it is difficult to determine the optimal treatment according to the principles of evidence-based medicine. An appropriate approach for this condition appears to be the combination of guidelines developed in Amyand’s therapy according to Losanoff and Basson, along with the recommended “gold standard” therapy for Fournier’s gangrene. This means early and highly radical surgical debridement, adequate antibiotic therapy and intensive care.


2015 ◽  
Vol 18 (5) ◽  
pp. 194
Author(s):  
Yoshihito Suenaga ◽  
Tomonobu Abe ◽  
Masato Mutsuga ◽  
Yoshimori Araki ◽  
Akihiko Usu

An epicardial mesothelial cyst, which can be defined as a mesothelial cyst attached to the epicardium surrounding the heart and the great vessels inside the pericardial sac, is a rare condition. We herein report a case of epicardial cyst, which was attached to the ascending aorta. The patient was a 76-year-old male who underwent coronary artery bypass surgery, and the cyst was found incidentally. It was approximately 5 cm in diameter, and histological examination confirmed mesothelial cell origin. The ascending aorta has not previously been reported as the origin of an epicardial mesothelial cyst. This case gives new insight into the embryology of these cysts


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.


Author(s):  
Deepashri H Kambalimath

Congenital missing permanent second molar is an extremely rare condition. Non syndromic mandibular second molar agenesis associated with other anomalies has occasionally been reported in literature, but isolated sporadic cases are rarely observed. Number of interactions between genetic and environmental factors during the process of tooth development might be the causative etiology for agenesis. This report presents an isolated case of hypodontia with absence of bilateral mandibular second molar agenesis in a healthy 18 year old female patient is presented and literature review on prevalence of most missing teeth with incidence of missing second molar in various regions of the world and in various regions of Indian continent is presented. No such case has been reported in Indian literature so far.


2019 ◽  
Vol 65 (5) ◽  
pp. 756-759
Author(s):  
Mikhail Postolov ◽  
Nadezhda Kovalenko ◽  
K. Babina ◽  
Stanislav Panin ◽  
Yelena Levchenko ◽  
...  

Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm characterized by expression of both mela-nocytic and smooth muscle markers. Only 10 primary malignant lung PEComas have been reported up to date. We report a 59-year-old male who presented with a lung neoplasm, found during the routine X-ray examination. Preoperative CT-scan revealed the 3,5-cm-sized mass, located at the border of the upper, middle and lower lobes of the right lung. Patient underwent a thoracotomy, resection of the upper, middle and lower lobes of the right lung accompanied with mediastinal lymphadenectomy. After surgery, chylothorax was revealed. Conservative treatment was unsuccessful, so we performed laparoscopic clipping of the thoracic lymph duct. Patient was dismissed from hospital on the 10-th day after the second operation in good condition. In this report, we intend to increase the limited knowledge relating to natural history and optimal treatment of such a rare condition as a primary malignant lung PEComa.


2019 ◽  
pp. 199-206
Author(s):  
О. З. Скакун ◽  
С. В. Федоров ◽  
О. С. Вербовська ◽  
І. З. Твердохліб

Distinctive atrioventricular type I heart block is diagnosed when the PQ interval is 0.30 s. or more. Prolongation of the PQ interval more than 0.50 s. is a very rare condition. Usually it is associated with a pseudo-pacemaker syndrome. The last one manifests itself with dizziness, syncope, general weakness, shortness of breath upon physical exertion, cough, seizures, cold sweat, a feeling of pulsation in the head, neck and abdomen, a headache, paroxysmal nocturnal dyspnea, swelling of the lower extremities, tachypnea and jugular venous pulsation. The P wave appears immediately after the previous QRS complex. Atrial contraction occurs at the moment when the ventricles don’t relax after the previous contraction; due to the fact that pressure in the ventricles at this moment is higher than in the atria, the tricuspid and mitral valves remains closed. During the atrial contraction, most of the blood is ejected not into the ventricles, but backward into the pulmonary veins from the left atrium and into the venae cavae from the right atrium. Also, an atrial kick is absent which results in a less ventricular filling. There is increased pressure in the atria leading to their distension and excessive secretion of the atrial natriuretic peptide. A case report of the distinctive atrioventricular type I heart block associated with the pseudo-pacemaker syndrome is described. The patient suffered from a pre-syncope, short-term dizziness during the previous two days, tinnitus, general weakness, feeling of pulsation in the abdomen, neck, head, which interfered with his sleep. He developed these complaints after an infectious disease, which manifested as a runny nose and sore throat. In this patient, an extremely prolonged PQ interval up to 0.70 s. was observed. Also, episodes of Mobitz I and Mobitz type II atrioventricular block were detected. During the monitoring of patient state, the interval PQ was gradually shortening, and in 1 month it reached the normаl duration. It can be assumed that in the case of distinctive atrioventricular type I heart block, a significant prolongation of the refractory period in the rapid pathways of the AV-node plays a key role in the pathogenesis of this condition. According to the recommendations of the ACC/AHA (1998), for patients with distinctive atrioventricular type I heart block accompanied by the pseudo-pacemaker syndrome and documented alleviation of symptoms with temporary AV pacing, the pacemaker implantation should be considered (IIaB). The implantation of dual chamber pacemaker may reduce symptoms and lead to an improvement in the functional state of patients, in whom shortening of the interval between atrial and ventricular contractions improves hemodynamics. For asymptomatic patients with the PQ interval of ≥ 0.30 s, pacemaker is not recommended. The distinctive atrioventricular type I heart block in patients with pseudo-pacemaker syndrome is a rare condition and often remains undiagnosed. But it may have a benign course with a gradual normalization of the PQ interval. Indications for permanent pacemaker implantation should be reviewed as this block may be completely reversible. A permanent pacemaker may be used in the case of absence of positive dynamics in a shortening of the PQ interval.    


2021 ◽  
Vol 14 (1) ◽  
pp. e238317
Author(s):  
Nibash Budhathoki ◽  
Sunita Timilsina ◽  
Bebu Ram ◽  
Douglas Marks

Prevalence of haemoglobin sickle-β+ thalassaemia (Hb S/β+thal) is variable with geography ranging from 0.2% to 10% among sickle cell patients. Clinical presentation of Hb S/β+thal patients depends on HbA level, with milder disease often going undiagnosed. However, rarely these patients can present with a fulminant vaso-occlusive crisis (VOC). Given VOC can present with non-specific symptoms, the diagnosis and treatment is often delayed. Here, we present a patient who initially developed altered mental status, pancytopenia and multiorgan failure due a critical VOC resulting in bone marrow necrosis and fat embolism. Subsequent workup confirmed that our patient had Sickle-β+ thalassaemia, which had gone undiagnosed, despite subclinical evidence of haemolysis on routine lab work for years. Following diagnosis and initiation of RBC exchange, he improved significantly and was discharged home. High index of suspicion and bone marrow biopsy is vital for early diagnosis and management of this rare condition.


Author(s):  
Salwa A. Musa ◽  
Areej A. Ibrahim ◽  
Samar S. Hassan ◽  
Matthew B Johnson ◽  
Asmahan T. Basheer ◽  
...  

Abstract Background Fanconi-Bickel syndrome (FBS) is a rare condition of carbohydrate metabolism, caused by a recessive defect in the facilitative glucose transporter GLUT2 encoded by the SLC2A2 gene and characterized by a wide spectrum of phenotypical features. There is a paucity of reported data on FBS from Sub-Saharan Africa. Here, we describe the clinical, biochemical and genetic characteristics of our patients with FBS from Sudan, a country with a high consanguinity rate. Patients & methods Eleven patients from ten unrelated Sudanese families were included. Clinical & biochemical data were documented and imaging studies done including bone survey and abdominal ultrasound. Liver biopsy was done to confirm the pathological diagnosis in 45% of cases and molecular genetics was performed through contribution with the Exeter genomics laboratory for ten patients. Results Reported consanguinity was 70% among our patients. Growth was significantly impaired at presentation with mean weights of (-5.3 ± 1.8) SD and heights (-5.4 ± 2.5) SD. Severe chest deformity was present in (27%) and all patients showed features of rickets at presentation. Three patients had neonatal diabetes requiring insulin therapy of which one has been reported before. Six families lost undiagnosed siblings with similar clinical presentations. We identified a total of four homozygous pathogenic SLC2A2 variants in our patients, one of whom had a novel mutation. Conclusions FBS is not uncommon in Sudan where there is a high rate of consanguinity. Many cases are likely missed because of variable presentation and lack of public and professionals’ awareness. This is the first series to describe this condition from Sub-Saharan Africa.


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