[RACAND syndrome associated with primary biliary cirrhosis]. / Syndrome RACAND associé à une cirrhose biliaire primitive.

The acronym RACAND means the association of Raynaud's phenomenon, anticentromere antibodies and digital necrosis without digital sclerosis. It is a rare syndrome recently individualised. The association with primary biliary cirrhosis has never been previously reported, and leads to discuss its nosology. A 57-year-old woman with a history of Raynaud's phenomenon, presented with recurrent episodes of fingers and toes necrosis. Clinical examination did not evidence digital sclerosis. Anticentromere antibody titer was high. There was no oesophageal or lung involvement. A liver biopsy performed because of moderate increase in liver enzymes showed histological lesions of primary biliary cirrhosis. Treatment with iloprost, platelet aggregation inhibitors and anticalcic drugs could not avoid amputation of several toes. It is possible that anticentromere antibodies are directly toxic to vascular endothelial cells and result in a diffuse or localized vasculopathy. The association with primary biliary cirrhosis is in favour of autoimmune condition of both vascular and ductular endothelial cells.

[Septic pylephlebitis associated with Enterobacter cloacae septicemia]. / Pyléphlébite septique associée à une septicémie à Enterobacter cloacae.

Septic pylephlebitis or purulent thrombosis of the portal venous system generally results from a progressive extension of suppurated thrombophlebitis, secondary to an intrabdominal infection. Germs most often found are Escherichia coli and Streptococcus, isolation of Enterobacter cloacae is unusual. We report a particular observation of septic pylephlebitis associated with E. cloacae bacteremia, without biliary, digestive or pancreatic lesion on the CT-scan. The antibiotic sensitivity pattern of the isolated germ and the negative epidemiologic investigation pled in favour of community acquired infection. The infection resolved with antibiotics and anticoagulation, followed by total repermeation of the portal system.

[McArdle disease revealed by exercise intolerance associated with severe rhabdomyolysis]. / Révélation d'une maladie de Mc Ardle par une intolérance musculaire à l'effort associée à une rhabdomyolyse sévère.

McArdle's disease (MAD) is a rare hereditary myopathy secondary to a deficit in myophosphorylase, an essential enzyme for the use of muscular glycogen reserves. Exercise intolerance to a variable degree is the fundamental manifestation. Muscular enzymes are usually normal or slightly elevated, except during episodes of rhabdomyolysis. Generally, the electromyogram has poor sensitivity for the diagnosis of exercise myopathies. The muscular biopsy can be misleadingly normal. The role of MRI in the diagnosis of MAD is not well clarified in the literature. We report the case of a 16-year-old patient, hospitalized in July 2008 for exercise intolerance. On admission, he was asymptomatic and the physical examination was non contributive. Serum creatine kinase levels and renal function measures were normal. Cycloergometer exercise testing unmasked the disease. EMG and muscular biopsies were normal. During the second hospitalization, this time for rhabdomyolysis, T2 weighted MRI of the thighs showed high intensity signals from the gracilis muscles. The control MRI, made after 2 weeks of rest, was normal. Right gracilis muscle biopsy demonstrated excess glycogen with myophosphorylase deficiency, establishing the diagnosis of MAD. MAD is a rare metabolic myopathy to consider in patients with a history of exercise intolerance. The muscle biopsy can be misleadingly normal and should be, to our opinion, be guided by MRI findings.

[Acute recurrent hemolytic anemia as the first manifestation of Wilson's disease: Report of a case]. / Anémie hémolytique récidivante révélatrice d'une maladie de Wilson (une nouvelle observation et revue de la littérature).

INTRODUCTION: The liver and central nervous system are the usual targets of Wilson's disease, an inherited disorder of copper metabolism. Severe hemolytic anemia is an unusual complication of Wilson's disease. EXEGESIS: We report a case of Wilson's disease revealed by acute intravascular repeating hemolytic anemia associated with liver failure. The initially negative etiologic investigation was directed by occurred of liver failure. The genetic study allowed to discover an other similar case. The evolution was favourable under treatment with zinc sulfate and penicillamine. DISCUSSION: Diagnosis of Wilson's disease must be considered in case of acute hemolytic anemia associated with liver failure in young adults.

[An historical case of malignant hyperparathyroidism with unusual metastatic sites]. / A propos d'une hyperparathyroïdie maligne historique à localisations métastatiques inhabituelles.

We report a historical case of hyperparathyroidism in a young patient hospitalized for an array of osteolytic foci and incomplete fracture associated with a swollen neck, revealing a very special form of a metastatic parathyroid carcinoma with unusual multiple locations and exceptional medullary flooding. Carcinoma of the parathyroid gland produces a malignant hypersecreting tumor particularly difficult to diagnose. Treatment of this rare tumor is primarily surgical. The preoperative syndrome is unusually severe primary hyperparathyroidism. Intraoperatively, the size of the tumor and its local extension to surrounding tissue are highly suggestive. Confirmation requires pathological analysis of the operative specimens and can be further supported by the clinical course of local recurrence or metastasic spread. Specific immunohistochemical techniques have recently been shown to be contributive. The diagnosis is strengthened in the presence of associated Schantz and Castelman criteria. Foci of local extension can be identified preoperatively with ultrasound, (99m)Tc-sestamibi scintigraphy and MRI of the neck and mediastinum. The prognosis depends mainly on the possibility of achieving complete resection at the initial surgery. In some cases, very aggressive complementary postoperative radiotherapy is likely to improve locoregional control of the tumor. Chemotherapy alone or in combination with radiation has not demonstrated its effectiveness. The disease course and control can be monitored by regular assay of serum calcium and the parathormone.

[Severe rhabdomyolysis revealing a myopathy linked to autoimmune hypothyroidism]. / Rhabdomyolyse sévère révélant une myopathie hypothyroïdienne d'origine auto-immune A propos de deux cas.

While muscular manifestations are common of hypothyroidism, hypothyroid myopathy is most often limited to myalgia, muscular stiffness and cramps with, in some patients, elevated levels of muscle enzymes. We report two cases of rhabdomyolysis related to hypothyroid myopathy. One of the patients developed acute renal failure. Thyroid hormone replacement therapy improved thyroid and renal function with involution of rhabdomyolysis. Hypothyroidism appears to be an authentic cause of rhabdomyolysis and should be carefully ruled out in all patients with elevated serum levels of muscle enzymes.

[Pseudo-tumoral and ischemic encephalic Erdheim-Chester disease]. / Maladie d'Erdheim-Chester cérébrale avec double lésion pseudotumorale et ischémique.

INTRODUCTION: Erdheim-Chester disease (ECD) is a rare non-langerhans cell histiocytosis of unknown etiology. It is a multi-systematic xanthogranulomatous infiltration with almost constant bone involvement; the neurological manifestations are not specific and occur in 15-20% of cases. METHODS: We report the case of a 59-year-old woman hospitalized for a frontal syndrome and right hemiparesis. RESULTS: Imaging revealed a left caudate nucleus process with recent infarct. Cardiovascular involvement and bilateral osteosclerosis of long bones strongly suggested ECD, confirmed after biopsies of the pericardium and bone. CONCLUSION: Pseudo-tumor encephalic ECD is very rare; the caudate nuclei is an unusual localization; ischemic stroke has been exceptionally described. Prognosis depends largely on the involvement of the central nervous and cardiovascular systems.

[Non-Hodgkin's malignant lymhoma of mental soft tissue: a case report]. / Lymphome malin non hodgkinien (LMNH) des parties molles du menton. A propos d'un cas.

Non-Hodgkin's malignant lymphoma is rarely located in the soft tissue of the chin making diagnosis difficult. Clinical signs are non-specific: progressive weight loss, asthenia, fever, an inflammatory tumefaction unresponsive to medical treatment. Imaging shows a homogeneous tumefaction of the soft tissues. Pathology and immunohistochemistry establish the diagnosis.

[Sneddon's syndrome: 4 cases and a review of the literature]. / Le syndrome de Sneddon: 4 cas et revue de la littérature.

Sneddon syndrome is an association of livedo racemosa and cerebrovascular ischemic events generally occurring in young adults. This is an uncommon chronic progressive arterio-occlusive disorder of unknown cause involving small and medium sized vessels. We report four cases. One case was disclosed by cerebral hemorrhage. One pathogenic hypothesis suggests the involvement of an idiopathic progressive inflammatory arteriopathy or secondary thrombotic disorder comparable with antiphospholipid syndrome.

Idiopathic retroperitoneal fibrosis and ankylosing spondylitis. A new case report.

The case of a 52-year-old man with retroperitoneal fibrosis and ankylosing spondylitis is described. Inflammatory low back pain and acute renal insufficiency prompted a computed tomography scan of the abdomen with contrast agent injection. A fibrous sheath surrounding the aorta and attracting the ureters toward the midline was seen, strongly suggesting retroperitoneal fibrosis. The diagnosis of ankylosing spondylitis was based on the presence of inflammatory low back pain responsive to nonsteroidal anti-inflammatory drugs, syndesmophytes at the lumbar and cervical spine, bilateral sacroiliitis, and presence of the HLA-B27 antigen. Prednisone therapy in a daily dosage of 1 mg/kg induced a marked improvement. Only nine cases of concomitant retroperitoneal fibrosis and ankylosing spondylitis have been reported. These two conditions share similarities in some of the etiologic factors and anatomic localizations, suggesting that both may stem from a predisposition to fibrotic diseases.

[Heart and sports: modifications of electrocardiogram, late potentials and echocardiography. Study of 75 sportsmen and 46 witnesses]. / Coeur du sportif: modifications électriques et échocardiographiques au repos. Etude de 75 sportifs et de 45 témoins.

The authors report the results of prospective study, which compared 75 sports subjects and 45 witnesses. All subjects were male, the differentiating parameter being the type of sport practiced. This work analysed surface Electrocardiogramme, thransthoracic echocardiography and high amplification ECG. The statistical study used the student test t compare means and the Chi2 test for the percentages, the signification limit was fixed to 5%. Clinically, our two series didn't show a significant statistical difference, concerning: age, weight, height or arterial pressure. On the electrocardiographical level, the sport's men have a lower cardiac frequency (p = 0.005), a larger PR space (p = 0.05), an important Sokolow parameter (p < 0.005), and repolarisation disorders represented, essentially by negative T waves (p = 0.02) and an upper movement of ST segment in V2-V3 (p < 0.005). Echocardiography showed a dilatation of the right cavities: right auricular (p = 0.0125) and right ventricular (p = 0.025). Move over, it has been showed that the sport's men left ventricular walls were tabor (septal wall, p = 0.0125), (posterior wall, p = 0.025), despite a difference in the values of the left ventricular telediastolic diameter (4 mm average in the two series). The signification limit was not reached and it was also showed that the left auricular was also dilated (p = 0.025). The study of the delayed Potentials, tried to bring an explication to certain sudden deaths of sport's men which are to date unexplained and which could have a rhythmical origin? It is also to be noted that sport's men present more delayed ventricular Potentials. However, the statistical signification was not reached (p = 0.07).

[Biermer's disease and venous thrombosis. Report of two cases]. / Maladie de Biermer et thrombose veineuse. A propos de deux observations.

INTRODUCTION: The main issue in venous thrombotic events is their etiology. Several clinical and/or biological data can be helpful in that research. In the two cases we report here, a macrocytic anemia led to the diagnosis of probably acquired hyperhomocysteinemia. FIRST CASE: a 24-year-old man was admitted for severe anemia and a superior vena cava syndrome. Biological data showed megaloblastic anemia and mild features of blood destruction that were explained by a pernicious anemia. Second case: a 35-year-old man had two deep venous thrombotic events in one year (involving the right leg, then the left leg); biological findings showed a macrocytic mild anemia that was diagnosed as a pernicious anemia. In both of the patients, deep venous thrombosis was mainly explained by a hyperhomocysteinemia that was a consequence of vitamin B12 deficiency. The two patients improved under anticoagulant treatment combined with subcutaneous vitamin B12. CONCLUSION: Pernicious anemia can cause acquired hyperhomocysteinemia, which is considered a risk factor for deep venous thrombosis. Thus, the connectivity of these conditions should remain in the practitioner's mind, especially when thrombosis occurs along with a macrocytic anemia.

A controlled study of sacroiliitis in Behçet's disease.

The aim of the study was to evaluate the prevalence of sacroiliitis in a group of patients with Behçet's disease (BD). Pelvic X-rays of 27 patients with BD responding to the International Study Group of BD and 30 controls (15 AS and 15 sciatica) were read blind and sacroiliac involvement was graded according to the New York criteria. In a second step, patients or controls with equivocal sacroiliitis had a sacroiliac CT scan. Two patients with BD (7.4%) and all patients with AS had evident bilateral sacroiliitis (at least grade 2). One patient with BD and two patients with sciatica had equivocal sacroiliitis (grade 1). CT confirmed sacroiliitis in the two patients with BD and eliminated inflammatory sacroiliitis in the three other patients with equivocal sacroiliitis showing mild degenerative lesions. A review of the literature showed that sacroiliitis and AS are rarely associated with BD. There remains insufficient evidence to suggest that sacroiliitis is an intrinsic feature of BD and that BD belongs to the group of SpA.

[Endomyocardial fibrosis in Behcet's disease: a case report of a pseudo-tumoral form]. / Fibrose endomyocardique au cours de la maladie de Behçet: un cas à forme pseudo-tumorale.

Endomyocardial fibrosis is very rare in Behcet's disease. The authors report the case of a 28 year old patient with Behcet's disease complicated by a pseudo-tumoral right ventricular formation on echocardiography. This misleading appearance suggested the diagnosis of cardiac thrombus or tumour and led to a surgical approach which revealed a fibrous moderator band suggesting endomyocardial fibrosis, confirmed by antomopathological analysis. Besides the originality of this case and the unusual pseudo-tumoral presentation, the authors underline the difficulties of establishing the diagnosis, despite the advances of medical imaging. The pseudo-tumoral intra-cardiac lesion in a suggestive clinical context (Behcet's disease) should raise suspicion of the diagnosis of endomyocardial fibrosis.