[Autoimmune and inflammatory pathologies associated with systemic scleroderma: Clinical, serological and prognostic profiles. Bi-centric retrospective series in the PACA region]. / Pathologies auto-immunes et inflammatoires associées à la sclérodermie systémique : profils cliniques, sérologiques et pronostiques. Série rétrospective bi-centrique en région PACA.

INTRODUCTION: Systemic sclerosis (SSc) is a rare auto-immune disease, affecting principally women between 40 and 60 years old. It is caracterised by a cutaneous and visceral fibrosis, an alteration of the microvascular network and the presence of autoantibodies. SSc can be associated with another connectivite tissue disease or to other autoimmune diseases, thus defining the overlap syndrome. The goal of our study is to describe these overlap syndromes. METHODS: We have analysed the data of a retrospective and bicentrique cohort, from the internal medicine unit of Hôpital Nord in Marseille and from the internal medicine unit of the Hôpital Sainte-Anne in Toulon, of patients followed for a SSc between January 1st, 2019 and December 1st, 2021. We have collected clinical, imunological features, associated auto-immune and inflammatory diseases with its morbidity and mortality. RESULTS: The cohort included 151 patients including 134 limited cutaneous SSc. Fifty-two (34.4%) patients presented at least one associated auto-immune or inflammatory disease. The association of two connectivite tissue diseases including SSc was found in 24 patients (15.9%), a third with Sjögren's syndrome and a third with autoimmune myositis. The principal associated disease to SSc was the autoimmune thyroiditis found in 17 patients (11.3%). The occurrence of complications (hospitalization, long-term oxygene therapy, death) was not significantly different depending on the existence or not of an overlap syndrom. CONCLUSION: SSc is often associated with other autoimmune diseases. This interrelation between associated pathologies and SSc, modifying sometimes the evolution of SSc, enhances the need of a personalized follow-up.

[Alcohol and epilepsy: a case report between alcohol withdrawal seizures and neuroborreliosis]. / Alcool et épilepsie : une illustration clinique entre convulsions de sevrage et neuroborréliose.

OBJECTIVES: This work consists in a study of the links between alcohol, a psychoactive substance and different related epileptic manifestations in order to clarify predominant factors both on conceptual, clinical and therapeutic levels. BACKGROUND: If alcohol is a frequent risk factor for seizures, its scientific evidence is less clear and ad hoc literature is rich in controversies and not firmly supported by systematic surveys. Alcohol has variable roles in the physiopathological determinism of seizures, the nosographical status of which needs to be clarified: alcohol withdrawal seizures, alcoholic epilepsy, and sometimes symptomatic epilepsy caused by coincidental disorders. METHODS: A synthesis of relevant literature describing the links between alcohol and epilepsy is illustrated by a clinical case: a patient admitted in our psychiatric ward for chronic alcoholism had had two seizures questioning their nosographical status. An infectious process with protean neurological manifestations, neuroborreliosis, was diagnosed. DISCUSSION: Three distinct clinical pictures illustrate the links between alcohol and epilepsy: the first, convulsive inebriation corresponds to a seizure during severe acute alcohol intoxication. The second deals with alcohol withdrawal seizures following a partial or complete sudden withdrawal of alcohol; these are the clinical features the most documented in the literature representing, with delirium tremens, the main complication of alcohol withdrawal. The third clinical picture, alcoholic epilepsy, is characterized by repetitive seizures in patients presenting alcohol abuse without former history of epilepsy or other potentially epileptic disorder, and without relationship to alcohol withdrawal or acute alcohol intoxication. Acute and chronic effects of alcohol on central nervous system have been depicted, while a unified classification of alcohol related seizures has been recently established by Bartolomei. This classification based on the Ballenger hypothesis of kindling (1978) could explain withdrawal and hazardous seizures as clinical expressions of the same epileptogenic process over different stages. Although theoretically criticized, such a model offers a conceptual interest while able to unify the varied understanding of convulsive crises related to alcohol, and a practical one, whilst being a basis for a therapeutic approach. Our clinical case illustrates the delay in the diagnosis established after two iterative generalized seizures, 72 hours after the beginning of a programmed weaning of a patient presenting alcohol dependency. If the withdrawal seizure hypothesis was underlined, some data led to symptomatic epilepsy. Firstly atypia, the well-supervised preventive treatment of convulsion did not avoid seizures. Secondly, the EEG showed focal anomalies strongly linked in the literature with a cerebral disorder, which was confirmed by MRI; thirdly, cognitive alterations, which are not usual in alcohol dependency, were observed clinically and confirmed by neuropsychological tests. Finally a neuroborreliosis was diagnosed, while the main neuropsychiatric complications of Lyme disease were described. In accordance with the recommendations made by some authors, it appeared legitimate to consider neuroborreliosis as a potential differential diagnosis of every atypical psychiatric disorder, the interest of such an identification laying in the existence of a specific treatment.

[Diagnostic issues of Whipple's disease during chronic inflammatory rheumatism: About three cases]. / Difficultés diagnostiques de la maladie de Whipple au cours des rhumatismes inflammatoires chroniques : trois observations.

INTRODUCTION: Whipple's disease (WD) can mimic chronic inflammatory rheumatism leading to incorrect prescription of tumor necrosis factor inhibitors (TNFI). Several complicated cases of WD have been reported during TNFI treatment which is strongly suspected to modify the host-pathogen relationship. Tropheryma whipplei asymptomatic carriage is high in the general population, making the diagnosis of WD more difficult face to unexplained arthritis. OBSERVATIONS: We report three observations that illustrate situations for which the detection of T. whipplei might be valuable to investigate the differential diagnosis of inflammatory rheumatism. CONCLUSION: The decision to check for T. whipplei infection should rely on individual clinical assessment. It should be considered in the absence of clinical response or in case of worsening of an inflammatory rheumatism under TNFI treatment, especially in front of atypical features. A systematic screening for T. whipplei before anti-TNF treatment seems unjustified since asymptomatic carriers are frequent.

[Exertional heat stroke: biological survey interest]. / Intérêt de la surveillance biologique d'un patient présentant un coup de chaleur d'exercice.

We present a 27-year-old soldier exertional heat stroke case report. Clinical examination has been reassuring during hospitalization. However biological disorders, especially liver and haemostasis disturbances, show off exertional heat stroke is a serious pathology on which clinician and biologist attention must be focalized, even if evolution is the more often favourable when an adapted and rapid treatment is used.

[Listeria monocytogenes abscess of the brain]. / Abcès du tronc cérébral à Listeria monocytogenes.

INTRODUCTION: Listeriosis commonly involves the central nervous system. Meningoencephalitis and rhomboencephalitis are the most frequent manifestations. Brain abscesses are rare. CASE REPORT: We report the case of a 63-year-old man treated with steroids for a long period; he was hospitalized for hemiparesis, confusion and fever. Clinical examination revealed meningeal signs, right hemiparesis and Parinaud syndrome. Initial CT scan was normal. The CSF contained 520 white cells/mm3 with predominance of polymorphonuclear neutrophils. An acute meningo- rhombencephalitis in an immunodepressed patient was suggested. The diagnosis of listeriosis was confirmed by blood cultures. Amoxicillin and gentamycin were started. The outcome on day 4 was severe with coma and tetraparesis. Brain MRI revealed a left peduncle abscess which descended deep into the brain reaching the internal capsule. The final clinical outcome involved residual right hemiparesis and left oculomotor nerve (III) palsy. CONCLUSION: Brain stem abscess is an uncommon form of listerial central nervous system infection. Listeria monocytogenes infection should be considered in patients with altered cell-mediated immunity that develop local neurologic deficits, a diagnosis which pursued rapidly with repeated blood cultures. Successful treatment requires early antibiotic therapy with ampicillin and gentamycin.

[Thrombotic thrombocytopenic purpura: a case report]. / Le purpura thrombotique thrombocytopénique: à propos d'un cas.

We report a case of thrombotic thrombocytopenic purpura (TTP) in a 60 years-old woman with Sjogren's syndrome. Symptomatology on admission leads to evoke the diagnosis of TTP. Biological results allow to set the diagnosis. Actually, association of haemolytic anaemia, schizocytes and thrombocytopenia are in favour of TTP. Undetectable ADAMTS 13 activity (below 5%) confirms the diagnosis. In congenital TTP, plasma ADAMTS 13 is absent or severely reduced as a consequence of mutations in the two ADAMTS 13 gene. In acquired TTP, circulating antibodies inhibit plasma ADAMTS 13 activity. In those cases, further biological studies are needed to find a cause of TTP. Follow-up implies standard laboratory tests. Plasma exchanges are progressively tapered after normalization of platelets count.

[Primary pleural lymphoma: a late complication of pleural decortication for tuberculosis: two cases in western countries]. / Lymphome pleural primitif: une complication tardive de la collapsothérapie chez des anciens tuberculeux. A propos de deux nouveaux cas.

Pleural lymphomas after a long standing pyothorax due to pleuropulmonary tuberculosis are now well identified, but rarely observed in Europe. We report two new cases in a non-immunocompromised patients. The two cases occurred 5455 years following artificial pneumothorax for pulmonary tuberculosis. The patients presented with a localized pleural tumor mass. Histology revealed high-grade lymphomas, diffuse large B-cell lymphoma and anaplastic lymphoma. Serology for Epstein-Barr virus was positive. Pleural lymphomas are an established complication of artificial pneumothorax. Epstein-Barr virus is known to play a crucial role in the pathogenesis, but despite the large number of artificial pneumothorax operations, these lymphomas remain rare, suggesting additional oncogenic factors.

[Hemolytic uremic syndrome as a complication of gemcitabine treatment: report of six cases and review of the literature]. / Syndrome hémolytique et urémique secondaire à la gemcitabine: à propos de six observations et revue de la littérature.

UNLABELLED: Hemolytic uremic syndrome is a rare condition during gemcitabine therapy. METHODS: We report six new cases of hemolytic uremic syndrome related to gemcitabine, three issued from a retrospective study of 136 consecutive patients treated with gemcitabine for which a systematic screening of this side effect has been performed and 29 cases with clinical data available identified in the literature in order to better characterised frequency and clinical presentation of this side effect. RESULTS: In our series, frequency of HUS is 2.2% and is higher than this previously reported (0.015%) or estimated with the data of clinical trials analysed (0.072 %). For 35 cases with clinical data available, the patients were always treated for a local advanced and/or metastatic disease. For our cases and for literature cases, at the time of diagnosis of hemolytic uremic syndrome, mean number of doses received (mean+/-standard deviation. Minimum/maximum)) (personal cases: 26.5+/-6.6. 16/36, literature cases: 21+/-11. 8/54), cumulative dose received (g/m2) (personal cases : 24.5+/-6.3. 16/31.6, literature cases: 21.7+/-12.4. 2.4/54) and duration of treatment (months) (personal cases: 8.2+/-1.9. 5.6/11, literature cases: 8.5+/-4.0. 3/18) are very closed and high individual variations observed for these factors are not consistent with a time and/or dose dependant toxicity. New-onset hypertension or exacerbation of underlying hypertension is the most common clinical manifestation, with mild anemia; thrombocytopenia is inconstant. The degree of severity of renal failure is highly variable. The existence of subacute clinical form with progressive worsening of the symptoms and biological form at the time of diagnosis suggest the interest of a systematic clinical and biological screening of this side effect, before each injection of gemcitabine. Early prognosis is linked to the evolution of hemolytic uremic syndrome and after hemolytic uremic syndrome healing, cancer progression. Treatment include gemcitabine discontinuation, antihypertensive drugs and if necessary fresh frozen plasma. CONCLUSIONS: Systematic clinical and biological screening of hemolytic uremic syndrome during gemcitabine therapy should allow to better know this complication, to recognize and treat it earlier with a potential positive impact for patients.

[Incidence and clinical profile of familial forms of Parkinson's disease. A study of 428 index-cases from a department of neurology]. / Fréquence et profil clinique des formes familiales de maladie de Parkinson. Enquête portant sur 428 cas-index recrutés dans un service de neurologie.

Although the cause of Parkinson's disease remains to be determined, several lines of evidence favor the role of a genetic factor. We therefore studied a series of 428 index-cases of Parkinson's disease that were referred to our Department of Neurology between 1986 and 1993, with the aim to identify secondary family cases. Index-cases were divided into 2 groups. In groups A (279 cases), a retrospective analysis of patients records was performed. In group B (149 cases), a prospective study was carried out by 1992, which allowed a more complete investigation of family history. In group A, 31/279 index-cases (11.1 p. 100) had secondary familial cases of Parkinson's disease. This percentage increased up to 22.8 p. 100 among index-cases in group B (34/149 cases). In most instances, only one secondary case was detected, and very few proponents had 2, or 3 other family cases. No large family with numerous Parkinson's disease cases was disclosed. Age at onset of disease was similar in group A between sporadic and familial index-cases, whereas in group B age at onset was earlier index-cases with positive family history as compared to those without (53.9 +/- 10.4 years versus 59.7 +/- 12.1 years respectively). This may be due to the different sizes of groups A and B, whereas clinical profile analysis did not differentiate index-cases with positive family history from those without family history (sporadic cases). An anticipation of age at onset of illness of 13.9 +/- 12.2 years was found in 9 of the 15 index-cases from group B with first degree parental vertical inheritance, where clinical data were available for the second family case. These findings about age at onset may be at least partly explained by a more accurate estimation of age at onset in index-cases than that in secondary family cases. Further analysis on the possible mode of transmission of the disease among familial cases was consistent with the implication of a genetic factor in the ethiopathogenesis of the disease, with a mendelian autosomal dominant inheritence with reduced penetrance.

[Means syndrome. 8 cases]. / Syndrome de Means. Huit cas.

BACKGROUND: Euthyroid Graves' disease is defined as an ophthalmopathy without dysthyroidism. We report 8 cases in 6 women and 2 men with an average follow-up of 16 months after diagnosis. CASE REPORTS: Unilateral ex-opythalmos was the first and most frequent sign. Ultrasonographic and immunological thyroid abnormalities were frequent but of questionable significance. Thyroid hormone levels continued to remain normal. The orbital CT-scan, used to screen for infra-clinical exophthalmos, evidenced focal or diffuse hypertrophy of the extraocular muscles and normal tendon insertions. More than 3 years after diagnosis, only one patient developed overt Graves' disease and clinical signs resolved spontaneously in one other. DISCUSSION: In mild to moderate forms of euthyroid Grave's disease, therapeutic abstention is advisable. Corticosteroids and orbital radiotherapy are interesting options in functionally disabling forms. Decompressive surgery is rarely needed.

[Polymyalgia rheumatica revealing a lung cancer]. / Une pseudopolyarthrite rhizomélique paranéoplasique révélant un cancer bronchique.

Polymyalgia rheumatica is an inflammatory condition belonging to the connective tissue diseases, which occurs quite frequently in the elderly. Previously, cases have been reported in association with malignant tumours, in a synchronous fashion or prior to the appearance of the cancer. In these cases, the polymyalgia rheumatica is considered to be a paraneoplastic syndrome. We report the cases of a 63-year-old woman and a 58-year-old man with severe proximal girdle pain associated to a high-level of systemic inflammatory markers and a diagnosis of polymyalgia rheumatica was made. In the face of a lack of ineffectiveness of analgesic and anti-inflammatory treatments, an intensive investigation was undertaken which in both cases revealed an adenocarcinoma of the lung. The rheumatic manifestations responded well to chemotherapy targeting the lung tumour. We present here a review of the literature to give prominence to the diagnostic pitfalls that can occur around paraneoplastic polymyalgia rheumatica. The presence of therapeutic resistance at the onset of treatment and other atypical features may suggest the presence of an occult malignancy.

A rare case of paraplegia complicating a lumbar epidural infiltration.

OBJECTIVE: We report the case of a patient who developed paraplegia following a low lumbar epidural steroid injection. Alternative approaches to (or alternative means of) performing transforaminal injections should be considered, in order to avoid devastating neurological complications. CASE REPORT: A 54-year-old man (who had undergone surgery 14 years earlier to cure an L5-S1 slipped disc with right S1 radiculopathy) presented with low back pain (which had begun 6 weeks previously) and left S1 radiculopathy. During a second infiltration of prednisolone acetate, the patient reported feeling a heat sensation in his legs and concomitantly developed facial flushing. Immediately after the injection, the patient developed complete, flaccid T7 ASIA A motor and sensory paraplegia. Three days later, T2 magnetic resonance imaging (MRI) of the spine revealed a spontaneous hypersignal in the conus medullaris and from T6 to T9, suggesting medullary ischemia. Recovery has been slow; after 4 months of treatment in a physical and rehabilitation medicine department, urinary and sensory disorders are still present (T7 ASIA D paraplegia). The patient can walk 200 m unaided. Three months later, the MRI data had not changed. DISCUSSION: This is a rare case report of paraplegia following low lumbar epidural infiltration via an interlaminar route. The mechanism is not clear. Most of authors suggest that the pathophysiological basis of this type of complication is ischemia caused by accidental interruption of the medullary blood supply. Direct damage to a medullary artery, arterial spasm or corticosteroid-induced occlusion due to undetected intra-arterial injection could result in medullary infarction. This serious incident should prompt us to consider how to avoid further problems in the future. It also raises the issue of providing patients with information on the risks inherent in this type of procedure. CONCLUSION: Despite the rarity of this complication, patients should be made aware of its potential occurrence. In the case reported here, the functional prognosis is uncertain.

[Pleuropulmonary manifestations of necrotising vasculitis]. / Manifestations pleuropulmonaires des vascularites nécrosantes.

The pleuropulmonary manifestations of necrotising vasculitis are frequent and polymorphic. If the existence of extrapulmonary signs and the presence of neutrophil polynuclear anticytoplasmic antibodies are helpful for the diagnosis of a bout of vasculitis, the existence of pleuropulmonary symptoms can also make for discussion of infections or iatrogenic effects induced by immunosuppressive treatments.