Dramatic improvement with anakinra in a case of chronic infantile neurological cutaneous and articular (CINCA) syndrome.
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Biomedical subjects
Publications and source records attributed to J Serratrice.
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We report a case of hypocomplementemic urticarial vasculitis heralding a relapsing polychondritis in a 63-year-old woman. The patient, who had suffered in the past from polymyalgia rheumatica, suddenly experienced a generalized urticarial eruption with a dramatic decrease in C4 complement fraction and the presence of anti-C1q antibodies. Two months later, an ear chondritis occurred and the patient rapidly responded to steroids and dapsone. To our knowledge, this association has never been reported.
SUBJECT: Hypothermia (defined as a core temperature lower than 35 degrees C) may result from accidental causes (exposure to cold, drug intoxications), from endocrine disorders (hypothyroidism), or from central or peripheral neurological disease. Among the causes of spontaneous hypothermia, the place of spontaneous periodic hypothermia or Shapiro's syndrome, of which less than 50 cases in children or adults have been reported, remains unclear. METHODS: Case series of spontaneous hypothermia in adults, from a register of the French Society of Internal Medicine (SNFMI). RESULTS: The ten collected cases of spontaneous hypothermia are heterogeneous. In half of the cases, an often ill-labeled psychiatric illness and/or epilepsy and/or anti-psychotic medication were found contributive. Only 5 cases at best seem to conform to the pattern of spontaneous periodic hypothermia or Shapiro's syndrome (in which agenesis of corpus callosum is typically found). In such cases, the episodes of hypothermia start with profuse hyperhidrosis suggesting a paroxystic reset of the hypothalamic thermostat with a lower temperature set point. In none of the cases was found a significant encephalic lesion. None of the treatment trials with anti-epileptics or cyproheptadine were found useful. Spontaneous hypothermia, whether periodic or not, seems to have an unpredictable course, with long periods of remission, and a benign long-term outcome. CONCLUSIONS: Spontaneous hypothermia is a symptom of likely multifactorial etiology. Even in cases conforming to the definition of Shapiro's syndrome, central nervous system anomalies are not unequivocal. No specific treatment for spontaneous hypothermia, whether periodic or not, can be recommended in the current state of knowledge.
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UNLABELLED: This observation recalls that gastric phytobezoar should lead to a search for an underlying disease and that a iron deficiency can be associated and hide macrocytosis related to a vitamin B12 deficiency. CASE REPORT: A 19 year-old woman consulted for asthenia. Microcyte anaemia associated with iron deficiency was diagnosed. Upper digestive endoscopy revealed severe, totally asymptomatic phytobezoar. Biological investigations revealed a vitamin B12 deficiency, high serum gastrin level and strong positivity for gastric antiparietal anti-cell antibodies, suggestive of an autoimmune gastritis. Total immunoglobulin A deficiency was also noted. DISCUSSION: Autoimmune gastritis is responsible for megaloblastic anaemia (vitamin B12 deficiency) but can also provoke microcytic (iron-deficiency) anaemia due to insufficient absorption of the latter and related to gastric achlorhydria. Phytobezoar might also be related to achlorhydria and/or gastroparesia associated with autoimmune gastritis. Hence, autoimmune gastritis should be searched for when confronted with unexplained gastric bezoar or iron-deficiency anaemia.
INTRODUCTION: Ictero-hemorrhagic leptospirosis is an endemic disease in France. Weil's disease, a form of leptospirosis, is well known. Fort Bragg fever is characterized by a constant pretibial papular lesion. First described in the USA, this non icteric form of leptospirosis is usually benign. We report the first French case of a mixed form of leptospirosis. EXEGESIS: A 52-year-old man living in South East France suffered from fever and myalgias associated with a pretibial papular lesion. A severe icterus appeared and permitted a diagnosis of leptospirosis. CONCLUSION: Our case recalls the clinical presentation of Fort Bragg fever, which is recognized through its inflammatory pretibial lesion associated or not with icterus.
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INTRODUCTION: Acute schistosomiasis, called safari's fever in Africa and Katayama fever in Japan, is an immunoallergic reaction due to transcutaneous penetration of infective cercaria. We report the collective case of seven young adults spending holidays in Mali. EXEGESIS: An eighteen years-old girl presents fever, headache, diarrhoea and abdominal pains at return from Dogon country (south of Mali). After turned down malaria and with the notion of bathing in fresh water followed by pruritus, we think to safari's fever. So we alarm all other members of the group. All can be treated to avoid chronic schistosomiasis. CONCLUSION: These observations recall that acute schistosomiasis is a real danger for tourists when bathing in fresh water in endemic areas of Africa. Education of travellers is necessary. Occurrence of safari's fever should alert physicians to prevent chronic schistosomiasis.
We report a case of branch retinal vein occlusion in a 28-year-old woman that revealed Takayasu's arteritis. Somatic examination showed humeral blood pressure asymmetry and an abdominal murmur; a biological inflammatory syndrome was noted. Abdominal aortography showed marked stenosis of the superior mesenteric artery. Three of the six diagnostic criteria of Takayasu's arteritis were present in our patient, sufficing to make the diagnosis. This is the first case reported of branch retinal vein occlusion revealing Takayasu's arteritis. It is to be added to the List of atypical initial manifestations of Takayasu's arteritis such as anterior ischemic optic neuropathy. Branch retinal vein occlusion is a rare enough occurrence in a 28-year-old patient to warrant further clinical investigation.
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Many neurological syndromes associated with antigliadin antibodies have been published. The most frequent are cerebellar ataxia and peripheral neuropathy. Such cases are reported under the title of gluten ataxia or of coeliac neuropathy. However, associations do not prove cause. Herein, a short review is made of the literature and the author's personal experience. Many unsolved questions remain. Gluten sensitivity is probably an immunological response in genetically susceptible individuals with or without enteropathy. Antigliadin antibodies are present in healthy adults, in some idiopathic ataxias and neuropathies. A gluten-free diet is effective on gastrointestinal but not on neurological symptoms. Whether antigliadin antibodies are elevated is more of a waiting classification than a definite diagnosis. Finally, the relationship between antigliadin antibodies and neurological diseases is very weak.
INTRODUCTION: Palpation of soft tissues constitutes part of the physical examination when faced with a patient with fever of unknown origin. Our case highlights the difficulty of diagnosis when the tumor still remains impalpable ten months after onset of fever and severe biological inflammatory process. EXEGESIS: A 49-year-old woman was admitted for fever of unknown origin associated with important biological inflammatory process. In view of her past medical history of breast carcinoma, a search for a relapse was performed and remained negative. Despite multiple investigations and repeated physical examinations, no diagnosis was obtained. Finally, [18F] fluorodoexyglucose positron emission tomography led to a diagnosis showing a high fixation located in the right thigh, related to a myxoid liposarcoma after surgical resection. CONCLUSION: Dramatic regression of fever and biological inflammatory process after surgical treatment illustrates the concept of "small tumor and fever of unknown origin", an exceptional entity but which physicians should be aware of. The role of new technical imaging with [18F] fluorodoexyglucose positron emission tomography has however to be clarified in the evaluation of fever of unknown origin.
PURPOSE: Prothrombin gene mutation G20210A (factor II) is, in frequency, the second genetic polymorphism involved in venous thrombosis. We report a retrospective studies on 38 patients issued from our medical department, all heterozygous for the factor II mutation and a literature review. METHODS: We have studied 38 patients, all heterozygous for the factor II mutation, selected through a population of 516 tested patients issued from our medical department from 1997 to 2002. The research was performed face with history of thrombotic or obstetrical events, angiopathy or familial screening. RESULTS: Twenty out of thirty-eight patients have at least one episode of venous thrombosis: superficial thromboses, deep thromboses and/or pulmonary embolism. One case of cerebral thrombophlebitis is observed. Venous thrombotic risk factors are associated in 12 cases (60%). Four out of thirty-eight patients have one episode of arterial thrombosis: cardiovascular, peripheral or cerebral. Arterial thrombotic risk factors are associated in all cases. Median age of the first venous thrombosis is earlier than the one of arterial thrombosis (39.11 versus 49.25 years). CONCLUSION: Our studies confirms the interest to search the prothrombin gene mutation when faced with a venous thrombotic event (deep vein thrombosis and/or pulmonary embolism) with or without acquired risk factors. Its involvement in thrombotic arterial disease is still a matter of debate. Data concerning its involvement in systemic diseases and angiopathies (thromboangeitis obliterans, Raynaud's phenomenon and migraine) are still needed. Mechanisms of thromboses could be an increase of prothrombin plasma level with high thrombin synthesis.
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