[Non-fortuitous dynamin II mutation-related association: neutropenia and Charcot-Marie-Tooth disease]. / Association non fortuite d'une neutropénie chronique et d'une maladie de Charcot-Marie-Tooth en rapport avec une mutation de la dynamine 2.

Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy is a genetically and clinically heterogeneous group of disorders of the peripheral nervous system. Mutations in multiple genes are currently known. We report an original case of CMT associated with chronic neutropenia in a patient with a K562del mutation in the dynamin 2 (DNM2) gene in a patient presenting with alterated cognitive function. Associated manifestations may guide molecular study.

[Human immunoglobulins, adverse drug reaction, prevention]. / Effets indésirables liés aux immunoglobulines humaines normales: intérêt des mesures de prévention.

PURPOSE: Adverse drug reactions occur during 10% of immunoglobulin treatment. Risk factor of adverse drug reactions have been identified. STRONG POINT: Simple measures during prescription, administration and supervision of immunoglobulin treatment should prevent most of serious and non-serious adverse drug reactions. Patients with risk factor of adverse drug reactions may be identified. Hydration before and during immunoglobulin treatment is recommended. Low dose of immunoglobulin and slow rate of infusion associated with hydration should prevent many adverse drug reactions. Anyway follow-up of tolerance during infusion is necessary. Changing immunoglobulin preparation does not prevent adverse drug reactions although measures of safe prescription and administration do. CONCLUSION: Careful prescription, administration and supervision of immunoglobulin therapy should prevent most of immunoglobulin-related adverse drug reactions.

[The fate of the abstracts presented to the biannual meetings of the French National Society of Internal Medicine]. / Devenir des travaux publiés sous forme de résumés dans les actes des congrès semestriels de la Société nationale française de médecine interne.

PURPOSE: Medical meetings give the opportunity to present oral communications or posters to the attending participants. However, the peer-reviewed publication of a full article allows to reach a wide readership. KEY POINTS: The survey that was performed on the oral communications and posters presented at the 43rd meeting of the French National Society of Internal Medicine, December 2000, showed that amongst the 303 selected podium presentations and posters, only 82 (27%) were published during the five following years. Podium presentations were more likely to be published than posters (36% versus 22%). CONCLUSION: Many oral communications and posters that are presented in medical meeting are not followed by the publication of a peer-reviewed full article despite the modern means of communication. However, this issue is of paramount importance as beyond the legitimate personal satisfaction of a publication, the scientific and academic recognition are the ground of medical career achievement for many physicians.

Extra-pulmonary paragonimiasis with unusual arthritis and cutaneous features among a tourist returning from Gabon.

Paragonimiasis is a helminthic disease that affect accidentally man after consumption of raw or poorly cooked crustacean dishes. The clinical feature is represented mainly by pulmonary signs. Extra-pulmonary manifestations including arthritic and skin attempt remain less frequent. The case is described of a young white French woman who become infected with Paragonimus while travelling to Gabon for a tourist trip. Clinical presentation accounted for extensive recurrent pruritic urticarian subcutaneous induration, permanent assymetrical pauciarthritis associated with joint swelling, and marked eosinophilia. Diagnosis was reached using serological testing showing seroconversion for specific antibodies. The patient was cured with a single oral dose of praziquantel. Even if the condition is rare among tourists to endemic zones, it must be considered when hypereosinophilia occurs in the returning traveller and migrant.

[Lymphoma with initial renal involvement: four cases]. / Lymphomes à manifestations initiales rénales: à propos de quatre observations.

PURPOSE: To present a comprehensive description of the clinical features of patients with renal manifestations during lymphoma. METHODS: Retrospective review of medical records from all patients diagnosed with lymphoma associated with kidney involvement in our hospital between 1996 to 2004. Four cases were identified and analysed. RESULTS: Four patients presented a non-Hodgkin's lymphoma. One patient showed intravascular large B-cell lymphoma, revealed by proteinuria. Another patient had a nephrotic syndrome, and two had a renal mass. Renal histology allowed diagnosis of lymphoma in 3 cases. CONCLUSION: The diagnosis of lymphoma associated with renal involvement is rather difficult, and more specifically in case of intravascular large B-cell lymphoma, or even primary renal lymphoma. We present here a comprehensive review of the literature and we discuss pathogenesis of these conditions.

[Exophtalmia revealing a mantle cell lymphoma]. / Exophtalmie révélant un lymphome du manteau: à propos d'un cas.

INTRODUCTION: Mantle cell lymphoma reached rarely ophtalmic sphere and salivary glands. CAS REPORT: We reported a dry syndrome seen in a 67 year-old patient. The first patological analysis of accessory salivary glands evoked a primary Gougerot-Sjögren syndrome. Secondary, he presented a mantle cell lymphoma. DISCUSSION: The pathological lack of specifity and the discovery of atypical Gougerot-Sjögren syndrome must encourage complementary immunohistochemical study of salivary glands biopsy.

[Granulomatous hepatitis revealing a Mycobacterium bovis widespread infection following intravesical BCG therapy]. / Hépatite granulomateuse révélant une infection disséminée à Mycobacterium bovis après BCG-thérapie intravésicale.

INTRODUCTION: Intravesical therapy with bacillus Calmette-Guérin (BCG) has proved to be effective in the treatment of superficial bladder tumors. Side-effects include local infections and rarely disseminated BCG infection with multiple end organ complications such as granulomatous hepatitis, pneumonitis, aortitis and bone marrow involvement. CASE REPORT: We report an 83-year-old man who presented with chronic granulomatous hepatitis. This was related to intravesical BCG therapy received two years earlier for superficial bladder cancer. Aortitis, splenic infarction and hematopoietic involvement were also diagnosed. Outcome was favorable following adapted antibiotic course. CONCLUSION: This case report highlights the possibility of widespread BCG infection following intravesical treatment, and the need for vigilance in patients with a history of such a therapy even several years later.

Cardiac complications of halofantrine: a prospective study of 20 patients.

Halofantrine, increasingly used for treatment of Plasmodium falciparum malaria, is a normally well-tolerated amino-alcohol with very few side-effects, but torsades de pointes ventricular tachycardia due to halofantrine has been reported in a few patients with a congenital long QT interval (Romano-Ward syndrome). We performed a prospective study of the cardiac effect of halofantrine in 20 patients with 48 h ambulatory electrocardiographic (ECG) monitoring; the halofantrine levels in their serum were also determined. Minimal ECG changes were noted, with lengthening of the QT interval without clinical symptoms. This effect was dose-dependent and can be very severe in cases of pre-existing cardiopathy; it also occurs in patients without any pre-existing cardiopathy. In order to reduce the likelihood of such incidents, which are admittedly rare, we suggest performing electrocardiography on all patients before initiating treatment with halofantrine.

[Hemorrhagic complications of antivitamin K. Report of 75 hospitalized patients]. / Complications hémorragiques des antivitaminiques K. A propos de 75 patients hospitalisés.

Hemorrhagic complications are the most frequent complications of antivitamin K (AVK) treatments and can be life-threatening. We report 75 patients from a University Hospital. They were 40 males and 35 females (median age 74 years, 20-94), and were classified into 3 grades according to clinical picture: grade 1 (no surgery or transfusion, grade 2: surgery or blood transfusion needed, grade 3: death). 43 patients had grade 1 complications, 27 grade 2, and 5 grade 3 complications. The most frequent complications were muscular hematomas (36 patients), sub-cutaneous hematomas (14 patients), digestive bleeding (13 patients), hematuria (12 subjects). Eight patients had intracerebral bleeding, of whom 3 died. The treatment time was very variable (1 to 988 weeks). Only half patients had a prothrombin rate (PR) below 20% but two thirds had an INR above 5. This study showed that PR was a poor predictor of hemorrhagic complications. INR was a better parameter. For 15 patients, we considered that the indication was unadapted or questionable, among whom 2 died. This work suggests that the promotion of AVK prescription rules should go on.

[Upper extremity deep venous thrombosis. 40 hospitalized patients]. / Thromboses veineuses profondes des membres supérieurs: à propos de 40 patients hospitalisés.

Deep venous thrombosis is 50 times less frequent in upper than in lower limbs. Data remain poor in the literature. Forty consecutive patients (24 males, 16 females, mean age: 54.5 years) were retrospectively analysed from 161 subjects who underwent venous explorations of the upper extremity for a 3.5 year period in the same center. Diagnosis of thrombosis was made by duplex ultrasonography (n =37) or phlebography (n =3). Main clinical manifestations were edema (n =36) and pain (n =29). Location of thrombosis was humeral (n =1), axillary (n =2), or sub-clavian (n =37, 2 bilateral). The majority of thrombosis (n =29) were secondary to cancer and venous catheter (n =19, 15 implanted ports), to central catheter alone (n =3) or cancer alone (n =7). The 11 others were associated with thoracic outlet syndrome (n =6) or apparent primary thrombosis (n =5). Thrombophilia was identified in 6 out of these 11. During follow up [mean of 9 months (0,5-36)], two patients developed pulmonary embolism, 14 a post-thrombotic syndrome and 16 patients died. Initial therapy included heparin (n =36) or fibrinolysis (n =4). Upper extremity deep venous thrombosis are mostly associated with cancers and venous catheters. Thrombophilia is frequent in the other cases. Heparin followed by oral anticoagulation is the optimal therapy whose duration depends upon underlying condition. Fibrinolysis has not been useful for preventing post-thrombotic syndrome in our study.

[Ventricular arrhythmia and halofantrine intake. Probable deleterious effect. Apropos of 3 cases]. / Arythmies ventriculaires et prise d'halofantrine. Effet délétère probable. A propos de 3 observations.

Incidence and malignant forms of imported Plasmodium falciparum malaria are increasing, and chemoprevention is more and more replaced by stand-by treatment and radical cure in preventing access on return from malaria areas. Halofantrine is recommended for this radical cure: it's an habitually well-tolerated amino-alcohol with very few side-effects. We report three cases of long QT-interval due to halofantine: three different young women coming back from Africa took halofantrine (500 mg (2 tablets) six hourly for three doses on the first and the seventh day) and all presented with syncopal episodes. Serum electrolyte concentrations and echocardiograms were normal. In one case only, a diagnosis of Plasmodium falciparum malaria was made, without severe manifestations, and in the two other cases, treatment was a radical cure. In two cases, several bursts of torsades de pointes ventricular tachycardia due to halofantrine were proven and electrophysiological cardiac tests concluded that they had a congenital long QT-interval/Romano-Ward syndrome). So far halofantrine cardiac toxicity was unknown with single dose of 24 mg/kg/d. This phenomenon can be very severe in case of preexisting cardiopathy. In spite of the rarity on the congenital Romano-Ward syndrome, systematic electrocardiogram is necessary before giving halofantrine.

[Oxidative stress and malaria. Apropos of 24 cases of Plasmodium falciparum malaria]. / Stress oxydatif et paludisme. A propos de 24 observations de paludisme à Plasmodium falciparum.

Oxidative stress has been suggested to be implicated in malaria. But it is not clear whether its major role is to kill intraerythrocytic parasites or to cause damage to host tissues. We have studied it in 24 European subjects hospitalized in Saint-André hospital, Bordeaux, France for Plasmodium falciparum access returning from a tropical trip, and in a group control of 16 subjects. Malondialdehyde, one of the oxidative stress markers is significantly increased in patients compared to the control group (m = 5.24 vs 2.14 mol/l). At the same time, it is observed a significative decrease in antioxidant factors, vitamin A and vitamin E. We found no relationship of the severity of malaria to the importance of the oxidative stress, and the question whether the oxidative stress attack host tissues or kill parasites remains entire. These observations should be completed by larger studies, particularly to improve malaria treatments available nowadays.

[Nephrocalcinosis: initial manifestation of primary Sjögren's syndrome]. / La néphrocalcinose : manifestation inaugurale d'un syndrome de Gougerot-Sjögren primitif.

INTRODUCTION: Nephrocalcinosis is a rare complication of chronic tubulointerstitial nephritis observed in primary Sjögren's syndrome. It can precede subjective sicca symptoms. OBSERVATION: We report the case of a 50-year-old woman who presented with a primary Sjögren's syndrome. The first symptoms appeared 10-years-ago while she was affected with a nephrocalcinosis. CONCLUSION: Autoimmune investigations for Sjögren's syndrome should be initiated in any patient presenting with nephrocalcinosis and distal renal tubular acidosis.

[Amoebic liver abscess. Study of 20 cases with literature review]. / Abcès amibien du foie. Analyse de 20 observations et proposition d'un algorithme thérapeutique.

PURPOSE: The management of amoebic liver abscess includes antiamoebic drugs combined or not with percutaneous puncture or surgical drainage. This study was to suggest a decision tree for the therapeutic approach of such feature. METHODS: We report a retrospective analysis of 20 imported cases with amoebic liver abscesses admitted at the Department of Tropical Diseases during 1995-1999 at the Bordeaux University Hospital Centre, France, and a review of the literature. RESULTS: The twenty patients were 14 males and 6 females, mainly 20 to 40 years old. The clinical presentation was mainly accounting a painful liver enlargement with hyperthermia. The echographic picture was mostly represented by a unique liver element located at the liver right lobe. They were numerous in an HIV infected patient. Thirteen patients have been treated using a medical therapeutic approach. A percutaneous puncture has been necessary for 4 cases. A percutaneous drainage has been realised for two patients as regard to the persistence of the hepatalgia occurrence. A surgical drainage has been experienced by two patients after a lack of efficacy of a percutaneous drainage, after rupture of an abscess treated medically, respectively. A review of the literature and the analysis of the 20 cases history have been used to determine a therapeutic algorithm. CONCLUSION: The occurrence of immediate complications at onset must indicate a first line surgical drainage procedure. Beside this situation, risk factors for rupture must be assessed (high size abscess, pejorative localization), as well as poor prognosis feature (liver failure, bacteraemia). If no pejorative condition occurs, a first-line exclusive medical approach can be undertaken with a clinical efficacy evaluation at H72. Otherwise, the indication of the percutaneous drainage must be discussed.

[Schnitzler syndrome: a rare cause of systemic urticaria]. / Syndrome de Schnitzler: une cause rare d'urticaire systémique.

INTRODUCTION: The Schnitzler's syndrome first described in 1972, associates urticaria, bone pain, and monoclonal IgM gammapathy. EXEGESIS: A 50-year-old man presented symptoms of urticaria restricted to the trunk and lower members, with episodes of fever accompanied by inflammatory pain in the knees and legs. Slight deterioration of his general condition was also observed. Biological findings showed the existence of an inflammatory syndrome. Electrophoresis and immunoelectrophoresis provided evidence for the existence of underlying IgM gammapathy. Bone X-ray demonstrated the presence of tibial and peroneal metaphysis thickening, with hyperfixation on bone scintigraphy. The patient's condition improved after cortisone and colchicine treatment, allowing decrease in coricosteroid doses. Two years later, except for urticaria, clinical features have disappeared and no hematological disorder has been observed.

[Sweet syndrome and Yersinia enterocolitica infection. 2 cases]. / Syndrome de Sweet et infection à Yersinia enterocolitica. Deux observations.

Sweet's syndrome is an acute febrile neutrophilic dermatosis. Although it frequently appears as an idiopathic disorder, it may occur in association, often as presenting sign, with malignancy or more rarely with infections. We report two cases of Sweet's syndrome preceded by digestive infection due to Yersinia enterocolitica, affirmed by significant rises in serum antibody titers. Other nongastrointestinal manifestations of such infections are known, predominantly arthritis and erythema nodosum. Sweet's syndrome is a rare complication of these infections. Treatment with systemic steroids, usually effective, can be replaced by antibiotics with apparently favorable results. The search of an infectious origin should be systematic in cases of Sweet's syndrome that appear to be idiopathic.

[Epidemiology and clinical aspects of imported tropical diseases]. / Epidémiologie et clinique des maladies tropicales d'importation.

The number of people travelling of the tropical countries is in constant progression and today represents about 5% of the population of the developed countries. Mortality is mainly accidental. Morbidity essentially concerns transmissible diseases. Diarrhoeal symptoms occur in 20-55% of travellers, are bacterial in 2 cases out of 3, and can be prevented. Cholera should soon have an efficient oral vaccine. Hepatitis A is frequent in some travellers (2-3%) and can be prevented by vaccination. Hepatitis E is beginning to be observed. Strongyloidiasis can in some cases evolve to serious complications; it may be latent, so should be sought systematically after any visit to the tropics. Most affections on returning to the industrialised world concern paludism of the Plasmodium falciparum type, leading to a still high mortality rate of 400 per year in Europe, while the preventive and curative means available are sufficient. Any fever should therefore be suspected and suitable treatment given. Other causes of fever are acute viral hepatitis, typhoid fever, the arboviroses, and numerous other conditions. Dermatoses represent the third reason for consultation on returning. These mainly concern pruriginous symptoms with filariases and abnormal hosts being evidenced. Furunculous lesions indicate a diagnosis of cutaneous leishmaniosis or myases. Any form of pruritus should suggest a diagnosis of HIV infection, or pruritus should suggest a diagnosis of HIV infection, or particularly trypanosomiasis. The risk of sexually transmissible disease is overall 6-fold higher in tropical travellers; advice before travelling is therefore of paramount importance. Should a seropositive subject travel to the tropics?(ABSTRACT TRUNCATED AT 250 WORDS)

[Multiple pseudo-cellulitis plaques and Koplick's sign: a particular form of parvovirus B19 primo-infection in adults]. / Placards pseudocellulitiques multiples et signe de Koplick: une forme originale de primo-infection à parvovirus B19 de l'adulte.

INTRODUCTION: clinical presentation which seems to be more specific of this infection. EXEGESIS: A 35-year-old woman, 12 weeks pregnant, presented with a primary infection of parvovirus B19. The clinical presentation was characterized by pseudo-cellulitis plaques of the buttocks and the vulva, buccal enanthema with ulcerations and Koplick spot. CONCLUSION: This is the second observation which describes such cutaneous and mucosal manifestations associated with parvovirus B19 infection. This kind of clinical presentation should be systematically reported to become well known by the physicians as erythema infectiosum of fifth disease or "gloves and socks" syndrome.

[Common variable immunodeficiency: 17 observations in the adult]. / Le déficit immunitaire commun variable de l'adulte: étude clinique, biologique et immunologique chez 17 patients.

PURPOSE: Common variable immunodeficiency (CVID) is an immune defect characterized by primary hypogammaglobulinemia. Most of the time, clinical manifestations that reveal CVID are recurrent bacterial infections, but auto-immune or granulomatous events may occur. METHODS: This retrospective study was conducted on 17 patients fulfilling the classical CVID definition. Lymphocyte activation level was evaluated in 12 patients through HLA-DR expression on lymphocytes subsets. RESULTS: This study includes 17 patients, 7 men and 10 women. The mean age at the first clinical manifestation is 23 years and the mean age at diagnosis is 39 years. Recurrent upper and lower bacterial respiratory tract infections are common to all patients. Abdominal infection due to Mycobacterium avium-intracellulare complex is found in one patient. Digestive events are dominated by chronic diarrhea caused by giardiasis, nodular lymphoid hyperplasia or villous atrophy. Seven patients developed auto-immune conditions (insulin dependent diabetes, idiopathic thrombocytopenic purpura (ITP), rheumatoid arthritis) and 7 patients have a splenomegaly. Non caseating granulomas in the spleen or in lymph node biopsies are found in 3 patients. Ten patients have a T lymphopenia, 2 have a B lymphopenia, 5 have a CD4/CD8 ratio <1, and 6 have T CD4(+) lymphocytes <400/mm(3). The study of HLA-DR expression on lymphocytes subsets shows that 7/12 patients have activated T CD4(+) and/or CD8(+) cells and these patients have auto-immune or tumoral manifestations. The other 5 patients do not have activated T lymphocytes but present with infectious events only. CONCLUSIONS: Our study allows the separation of patients with CVID according to their T lymphocytes activation level. A patient's classification is necessary to define homogeneous groups of patients to perform genetic and functional studies which will probably reveal heterogeneous molecular abnormalities.

[Epidemiological, clinical, biological and developmental aspects of leptospirosis: apropos of 30 cases in Aquitaine]. / Aspects épidémiologiques, cliniques, biologiques et évolutifs de la leptospirose: à propos de 30 observations recueillies en Aquitaine.

We have studied retrospectively 30 cases of leptospirosis observed in Aquitaine (South West France) from 1980 till 1992. This review was made in three internal and a nephrology department in Bordeaux hospital. Most cases occurred by indirect contact with infected animals or by occupational exposures. Onset was brutal with fever often associated with painful syndrome and sometimes conjunctival suffusion. Jaundice (70%), acute renal failure (67%), meningitis (50%) and hemorrhagic signs (50%) were among the major visceral manifestations. Diagnosis was always confirmed by micro-agglutination test. Leptospira ictero-hemorrhage was the predominant serogroup found. The outcome was favorable in 22 patients; reversible complications were seen in six cases (five acute renal failure with hemodialysis myocarditis and pulmonary edema in two hemodialysed patients, polyradiculoneuritis). Two patients died (acute respiratory failure and meningo-encephalitis with diffuse hemorrhagic syndrome). The characteristic of our series is the high frequency of hepatorenal syndrome due to the importance of our nephrologist recruitment. Furthermore our study confirm the vital prognostic characters of the pulmonary, renal, hemorrhagic and neurologic complications. No absolute relationship was found between the clinical and laboratory findings and the serotype of leptospira. Penicillin remains the treatment of choice and should be started as soon as possible the avoid the life threatening visceral complications.