[Characteristics of cardiac involvement in eosinophilic granulomatosis with polyangiitis]. / Caractéristiques de l'atteinte cardiaque au cours de la granulomatose éosinophilique avec polyangéite.

AIM OF THE STUDY: Our study aimed to identify the characteristics of cardiac involvement in eosinophilic granulomatosis with polyangiitis (EGPA). METHODS: We conducted a retrospective analytic study including EGPA cases diagnosed between 2000 and 2019 in an internal medicine department. Diagnosis was made according to the 1990 American College of Rheumatology criteria and the 2012 Chapel Hill Concensus. RESULTS: Eleven EGPA cases were included, 64% of patients were female. Median age at diagnosis was 52 years [42-58]. Heart damage revealed EGPA in 55% of cases with a significant predominance of women (p=0.015). The main cardiac manifestations were myocarditis, ischemic cardiomyopathy due to small vessel vasculitis, cardiac tamponade and intracardiac thrombus. Cardiac magnetic resonance imaging (MRI) mainly showed subendocardial hyposignal in early infusion and late enhancement in the same areas, nodular by locations, associated with impaired left ventricle function and micro-infarctions by distal vasculitis. Cardiac damage was associated to ANCA negativity in 83.3% of cases. The median Birmingham Vasculitis Activity Score version3 (BVAS v3) was 16 [10-17]. Under conventional treatment, no relapses had occurred. The median vasculitis damage index (VDI) was 2 [1-2.3] and the mortality rate was zero after a mean follow-up of 43 months. CONCLUSION: Cardiomyopathy is a frequent revealing mode of EGPA. A late onset asthma and hypereosinophilia should guide the diagnosis. As ANCA research often turns out to be negative, histological evidence is recommended in this context. The contribution of cardiac MRI in the diagnosis of EGPA remains to be defined.

[A rare cause of pulmonary arterial hypertension: Thoracic amyloidosis]. / Une cause rare d'hypertension artérielle pulmonaire : l'amylose thoracique.

Isolated thoracic involvement in amyloidosis is a rare and serious condition. Its association with pulmonary arterial hypertension (PAH) usually weakens the prognosis. We report the case of a 40-year-old man with a smoking history, hospitalized for chest pain, abdominal pain and acute respiratory distress. The cardiac ultrasound revealed a circumferential pericardial effusion as well as a pulmonary artery systolic pressure (PAPS) at 80mmHg. Chest imaging (computed tomography scan and magnetic resonance imaging) showed a tissue process developed in the pericardial sheath (60×45mm) sheathing the ascending aorta and infiltrating the trunk of the pulmonary artery and its right branch. Anatomopathological and immunohistochemical study of the process revealed AL amyloidosis. Note that the patient had no signs of extrathoracic amyloidosis. Blood and urine electrophoresis and immunoelectrophoresis as well as bone marrow mylogram and biopsy were normal. The patient was put on oral anticoagulant as he presented with PAH. A therapeutic protocol with thalidomide and dexamethasone has been initiated. The course of the disease was marked by total regression of the clinical signs, a marked decrease in the amyloid process on imaging and a normalization of the PAPS; our follow-up being three years.

Pheochromocytoma presenting as an authentic small vessel vasculitis and complicated with pulmonary embolism: An original presentation.

Diagnosis of pheochromocytoma can be simple when classic manifestations are present. It can also be challenging and complicated in some cases because of its wide array of faces and presentations. We present a case of a 30-year-old female patient who came with acute respiratory distress, chest pain, hemoptysis, asthenia, anorexia, weight loss of 20kg, and paresthesia in her lower limbs. Clinical examination found high blood pressure, accelerated heart and respiratory rates, signs of acute right heart failure with jugular venous distention and ankle edema, reticularis livedo in the four limbs, ulcers in both knees and in the 3rd metacarpo-phalangeal articulations and necrotic lesions in both calcaneal tendons and in the right toes. Further investigations concluded on myocarditis associated with alveolar hemorrhage, pericardic and pleuritic effusions and a segmental pulmonary embolism of the right inferior lobe. Neuro-muscular biopsy was suggestive of myositis. Cutaneous biopsy found nonspecific chronic dermatitis. ANCA antibodies were tested twice and were negative. Cryoglobulinemia was also negative. Thoraco-abdomino-pelvic scan was performed showing a large right adrenal mass suggestive of pheochromocytoma. Diagnosis of right adrenal pheochromocytoma was confirmed by MIBG-I123 hyperfixation findings and urinary normetanephrin levels. The patient was treated surgically. Postoperative outcomes were remarkably favorable with a complete regression of the cutaneous lesions and normalization of the blood pressure. Paresthesia significantly decreased. Control echocardiography at 3 months showed an improved heart function with a persistent apical and septal akinesis.

Prevalence and risk factor of renal dysfunction induced by bacterial infection other than spontaneous bacterial peritonitis in patients with cirrhosis.

BACKGROUND: Deterioration of renal function in cirrhotic patients with spontaneous bacterial peritonitis (SBP) is a predictor for inhospital mortality. However, the clinical significance of renal dysfunction during bacterial infection other than SBP is unknown. AIM: To investigate the prevalence and clinical significance of renal dysfunction due to bacterial infections other than SBP in patients with liver cirrhosis. METHODS: Retrospective data from in-patients with bacterial infections other than SBP were analyzed. RESULTS: Eighty-two patients were recruited for the analysis. Infection was located in urinary tract (41.5%), pneumonia (34.1%), biliary tract (3.7%), cellulitis (6.1%), gastrointestinal tract (4.9%) and bacteremia of unknown origin (9.7%). Renal dysfunction developed in 40 patients (48.8%), of which 13 patients had irreversible renal dysfunction. In the univariate and multivariate analysis, the initial MELD score, neutrophil count, bilirubin, and blood pressure were significant risk factors for renal dysfunction. CONCLUSION: The prevalence of renal dysfunction during bacterial infection other than SBP in patients with liver cirrhosis was 48.8%, and its development was related to the severity of the liver disease. Occurrence of irreversible renal dysfunction seemed to affect the prognosis of these patients.

[Recurrence of hydatid cyst of liver: predictive factors: Tunisian experience]. / Les facteurs prédictifs de récidive du kyste hydatique du foie : l'expérience tunisienne.

Cystic echinococcosis is a public health problem. Surgery represents the basic treatment and the surgeon is regularly faced with the choice of the appropriate surgical procedure (radical versus conservative surgical approach). The conservative procedure is safe and easy but can lead to a recurrence in the site of residual cavity. The aim of this study was to evaluate the predictive factors of the recurrence of hepatic hydatid cysts, to optimize surgical management and to implement preventive measures. The current retrospective study included 391 patients with hepatic hydatid cysts operated at our institution from 1996 to 2006. The diagnosis of recurrence was suspected by radiological survey and confirmed at laparotomy. The univariate study of predictive factors of recurrence was based on the Fisher test and the multivariate one on the logistic regression model. The recurrence rate reached 12% in our study with an average period of 50 months. Univariate analysis showed that the predictive factors of recurrence were: the rural origin of patients, the voluminous cysts larger than 7 cm, and unilocular hydatid cyst. Multivariate analysis showed that only voluminous cysts and unilocular ones were the predictive factors of recurrence. The unilocular and voluminous hydatid cysts represent the cysts that relapse frequently because of their immunogenic character and the presence of exocysts in the pericysts. This is very important for the therapeutic strategy the main aim of which is to prevent the recurrence.

[Abdominal tuberculosis: a retrospective series of 90 cases]. / Tuberculose abdominale : étude rétrospective de 90 cas.

PURPOSE: The aim of this study was to analyze the clinical, bacteriological, radiological and therapeutic features of abdominal tuberculosis in a series of 90 patients. METHODS: This was a retrospective and descriptive multicentre study of 90 cases of abdominal tuberculosis conducted from June 1997 to June 2008. Diagnosis of tuberculosis was based on bacteriologic evidence in 12 cases, histological evidence in 55 cases and on clinical and radiologic features with favorable outcomes under specific treatment in the 23 remaining cases. RESULTS: Thirty-one patients were male and 59 were female. The mean age of the patients was 41.5 years. Family history of tuberculosis was reported in three cases. Associated risk factors were: diabetes mellitus (five cases), ethylism (one case), post-hepatitis C cirrhosis (one case), systemic lupus erythematosus treated by corticosteroids (one case). Sites of involvement were: peritoneum (78 cases), liver (14 cases), gut (nine cases) and spleen (eight cases). Forty-eight patients (53,3%) had only an abdominal involvement, nine others patients (10%) had an abdominal involvement associated with intra-abdominal lymph nodes, 16 patients (17,8%) had a respiratory involvement (pulmonary, pleural and mediastinal lymph nodes), eight patients (8,8%) presented with an extra-abdominal and extra-respiratory involvement and 10 patients (11,1%) had respiratory and extra-respiratory disease associated with abdominal involvement. Among the 54 patients who underwent laparoscopy or laparotomy, diagnosis was evoked on macroscopic examination in 51. CONCLUSION: Laparoscopy and laparotomy are still helpful for the diagnosis of abdominal tuberculosis, especially in the presence of peritoneal involvement.

[Eosinophilic fasciitis (Shulman's disease): a case series of 11 patients]. / Fasciite avec éosinophilie (syndrome de Shulman): à propos de 11 patients.

PURPOSE: Eosinophilic fasciitis or Shulman's disease is a rare condition of unknown etiology. METHODS: We report a retrospective case series of 11 patients with eosinophilic fasciitis (seven men and four women, including a single pediatric case) and perform a systematic literature review to determine the main features of this disease. RESULTS: Mean age of the patients was 46 years. Subcutaneous induration of limbs observed in all the patients was the major presenting symptom. The induration was atypically located in the chest area in two patients. Blood eosinophilia was absent in five cases. Histological fasciitis was demonstrated in all patients and eosinophilic infiltration was present in seven patients. Relapse of subcutaneous induration was observed in only one patient who gradually developed systemic sclerosis. CONCLUSION: Diagnosis of eosinophilic fasciitis should be considered in the presence myalgia and subcutaneous induration of limbs, blood eosinophilia and hypergammaglobulinemia. Treatment is based on systemic corticosteroids.

[McDuffie hypocomplementemic urticarial vasculitis associated with Sjögren's syndrome]. / Vascularite urticarienne hypocomplémentémique de McDuffie associée à un syndrome de Gougerot Sjögren.

We report a patient with Sjögren's syndrome who presented with urticarial hypocomplementemic vasculitis. A 46-year-old female was admitted for assessment of ascitis. Clinical examination and computed tomographic scan disclosed evidence of multiple peripheral and intra abdominal lymph nodes. During her admission, she developed several bouts of acute angioedema and urticarial skin lesions. Minor salivary gland biopsy showed focal sialadenitis, stage IV of Chisholm. Schirmer's test was positive. Laboratory examination found low levels of C1q and high levels of C1q antibodies. Therapy with prednisone and hydroxychloroquine was initiated. Six months later, the patient presented with lower limb oedema. Urinalysis showed proteinuria (1g/day) and renal biopsy revealed membranous nephropathy with favorable outcome with corticosteroids.

[Etiological profile of digital necrosis of the upper limbs: analysis of 25 cases]. / Profil étiologique des nécroses digitales des membres supérieurs : analyse de 25 observations.

AIM: To investigate the etiologies of the upper limb digital necrosis based on a retrospective analysis of 25 cases. PATIENTS AND METHODS: We retrospectively reviewed the medical records of patients treated for digital necrosis of the upper limb in four departments of internal medicine from January 1997 to December 2003. RESULTS: There were 16 women and nine men, mean age 55 years. Eleven patients were smokers. Raynaud's phenomenon was noted in 12 cases. Connective tissue diseases were the most common cause (nine cases), all of them were women. The second cause was atherosclerosis (five cases) and Buerger's disease (five cases). In the other cases, the following diagnoses were found: vasculitis (three cases) and neoplasm (two cases). No cause could be identified in one female smoker. CONCLUSION: Digital necrosis is a common symptom, revealing a vascular pathology. Its causes are diverse. In women, it first suggests a connective tissue disease whereas in men, a diffuse arteriopathy. The etiological diagnosis strategy should consider drug intake, anamnesis and Raynaud's phenomenon history. However, in all cases the etiology investigations should not delay the treatment in order to preserve functional prognosis.

[Imaging features of xanthogranulomatous pyelonephritis]. / Imagerie de la pyélonéphrite xantogranulomateuse.

Pseudotumoral xanthogranulomatous pyelonephritis is a rare chronic renal infection. Preoperative diagnosis is difficult because of its non-specific presentation. The purpose of this retrospective review of 8 cases is to assess the value of different imaging techniques in the evaluation of this pathology. Six males and 2 females, aged 29 to 75 years were included. The right kidney was involved in 5 cases and the left kidney was involved in 3 cases. Involvement was upper polar in 2 cases and lower polar in 6 cases. A kidney stone was present in 3 cases. US showed a heterogeneous hypoechoic lesion in 3 cases, a homogeneous hypoechoic lesion in 3 cases, and isoechoic lesion in 1 case and a cystic lesion in 1 case. CT showed a focal solid lesion with peripheral enhancement in 4 cases and a cystic mass with peripheral enhancement in 3 cases. US features are non-specific. CT shows a non-specific renal mass, the presence of obstruction and demonstrates perirenal involvement. Preoperative MRI, not performed in our patient population, demonstrates specific changes in the perirenal fat that suggests the diagnosis. The diagnosis of pseudotumoral xanthogranulomatous pyelonephritis can be suspected on a constellation of clinical and laboratory findings combined with non-specific features on CT and US and specific MRI features of perirenal fat changes. Percutaneous biopsy may be needed in selected cases to confirm diagnosis.

[Myalgia in familial Mediterranean fever]. / Myalgies au cours d'une fièvre méditerranéenne familiale.

INTRODUCTION: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever and painful episodes of sterile peritonitis, pleuritis and arthritis. Among rare symptoms of the disease, muscular manifestations, first described in 1945, sometimes as one of the main clinical manifestations or as its sole feature should be recognized. We present a patient with FMF in whom severe myalgia were predominant. CASE REPORT: An 18 year-old Tunisian boy treated with corticosteroids for an "inflammatory myopathy" in another institution was admitted for abdominal pain. FMF was suspected because of a history of paroxysmal abdominal pain with fever from the age of 5 leading two times to laparotomy and one attack of left knee arthritis at the age of 14. FMF diagnosis was confirmed genetically, corticosteroids were tapered and a treatment with colchicine was started. Two years and a half later, he was admitted for severe and incapacitating myalgia of the upper and lower limbs without fever nor abdominal pain that responded well to rest and colchicine. Myalgia was then definitively attached to FMF. CONCLUSION: Three clinical patterns of myalgia are now well identified in FMF: the spontaneous pattern as observed in our patient, the exercise-induced pattern and the protracted febrile myalgia syndrome. The three patterns differ in the severity of pain, grade of fever and duration of the episode.

[A case of papillitis revealing primary syphilis]. / Papillite révélant une syphilis primaire.

OBJECTIVE: Syphilitic ocular manifestations are polymorphous and usually occur during the secondary or tertiary stage of syphilis. We report a case of primary syphilis revealed by papillitis. DESIGN: A 22 year old man presented with blurred vision in the left eye and decreased visual acuity. Fundus examination and fluorescein angiography revealed a papilledema in the left eye and chorioretinitis in the right one. Clinical examination revealed a painless ulceration of the chin. Blood tests were positive for syphilis (positive reaction to the VDRL test and TPHA titer at 1/640) but negative for HIV. After penicillin therapy, the ocular manifestations resolved. RESULTS: Papillitis is a relatively rare ocular manifestation of syphilis. Our case is original because papillitis was the presenting manifestation of the disease and that it was concomitant with the primary chancre. CONCLUSION: Systematic screening for syphilis should be performed in unexplained ocular inflammation.

[Behçet's disease in Tunisia. Clinical study of 519 cases]. / La maladie de Behçet en Tunisie. Etude clinique de 519 cas.

PURPOSE: To describe clinical characteristics of Behçet's disease in Tunisia. METHODS: It's a retrospective and multicentric study conducted by the Tunisian society of internal medicine. Inclusion criteria were those of the international study group. Were also included patients without international study group criteria but with at least one manifestation among arthritis, venous thrombosis or neurological manifestation with oral and genital ulceration or oral ulceration and skin lesions. RESULTS: Five hundred and nineteen patients were included. 87.5% of them fulfilled the international criteria. The male to female ratio was 2,7. The mean age was 28.7+/-9.3 years at onset and 32.7+/-9.2 years at diagnosis. The incidence of each manifestations was as follows: oral ulcers: 100%, genital ulcers: 87.5%, pseudo-folliculitis: 67.6%, erythema nodosum: 17.5%, positive pathergy test: 51%, joint involvement: 55%, uveitis: 32.2%, vein thrombosis: 24.9%, arterial aneurysms: 3.9%, neurological involvement: 11.6%. The frequency of HLA B51 antigen was 35% among the 187 patients tested. There was no difference in the manifestations of the disease between patients having B51 and those lacking it. Venous thrombosis (29.8 vs 11.4%), arterial involvement (4.4 vs 1.4%) and uveitis (37.5 vs 17,9%) were significantly more frequent in men whereas erythema nodosum (22.9% vs 15.6%) and joint involvement (70,7 vs 49.9%) more frequent in women. The mean follow up was 6,1+/-5.7 years. Mortality rate was 2.3% in our series. CONCLUSION: Our study confirms the androtropism of the disease in Mediterranean and Middle east countries. Positive pathergy test and venous thrombosis were more frequent in our study, like those from Mediterranean region. Whereas, ocular and neurological involvement were quite less frequent in our series.

Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia.

NADPH oxidase, a multi-subunit protein consisting of cytosolic components and the membrane-bound heterodimer, plays an instrumental role in host defence mechanisms of phagocytes. Genetic deficiency of the enzymatic complex results in an inherited disorder, chronic granulomatous disease (CGD), which is characterized by an impaired phagocyte microbicidal activity. X-Linked (XL) CGD results from a mutation in the CYBB gene encoding the gp91phox subunit, while autosomal recessive (AR) CGD is associated with mutations in one of the NCF1, NCF2 and CYBA genes that encode the p47phox, p67phox and p22phox subunits, respectively. In the study reported here, we investigated genetic defects underlying CGD in 15 Tunisian patients from 14 unrelated families. Haplotype analyses and homozygosity mapping with microsatellite markers around known CGD genes assigned the genetic defect to NCF1 in four patients, to NCF2 in four patients and to CYBA in two patients. However, one family with two CGD patients seemed not to link the genetic defect to any known AR-CGD genes. Mutation screening identified two novel mutations in NCF2 and CYBA in addition to the recurrent mutation, DeltaGT, in NCF1 and a splice site mutation previously reported in a North African patient. Our results revealed the genetic and mutational heterogeneity of the AR recessive form of CGD in Tunisia.

[Vertebral and spinal cord hydatidosis: contribution of imaging]. / Hydatidose vertébromédullaire: intérêt de l'imagerie.

The authors report the case of a vertebromedullary hydatidosis revealed by medullar compression in a 40-year-old male patient. Magnetic resonance imaging showed lesions of the seventh and eighth dorsal vertebras, cystic lesions in the epidural space and in the perivertebral soft tissues. Surgical excision lead to clinical cure. Vertebromedullary hydatidosis is rare and severe. Modern techniques of imaging are very helpful for the diagnosis and the follow-up of patients after treatment.

[Takayasu's arteritis associated with acute myeloblastic leukemia]. / Association artérite de Takayasu et leucémie aiguë myéloblastique.

INTRODUCTION: We present one patient with acute myeloblastic leukemia diagnosed two months after the onset of Takayasu's arteritis. EXEGESIS: A 21-year old woman with a previous history of erythema nodosum and episcleritis was admitted for a left cervical mass. Diagnostic imaging showed an aneurism of the left extracranial internal carotid and a stenosis of the left subclavian artery. Histological findings of the carotid aneurism revealed a granulomatous giant cell arteritis consistent with Takayasu's arteritis. Two weeks after, she was discharged, elevated white cell count (440.000/mm3 ) was disclosed. A bone marrow aspirate documented an acute myeloid leukemia. The patient died of intracerebral hemorrhage. CONCLUSION: Leucocytoclastic vasculitis and polyarteritis nodosa occur in acute myeloid leukemia, but the association with Takayasu's arteritis is new. In our knowledge, only two documented cases of Takayasu's arteritis in association with acute myeloblastic leukemia have been published.