[Hoffmann syndrome : about two new cases]. / Le syndrome d'Hoffmann : à propos de deux nouvelles observations.

Hypothyroidism is exceptionnally revealed by hypertrophic myopathy, known as Hoffmann syndrome. We report two new cases of severe hypothyroidism presenting as hypertrophic myopathy, occurring in two men of 49 and 57 years-old.

La myopathie hypertrophique associée à l'hypothyroïdie, connue sous le nom de syndrome de Hoffmann, est une manifestation rare de l'hypothyroïdie et peut à titre exceptionnel en constituer la manifestation initiale. Nous rapportons deux nouveaux cas de myopathie hypertrophique sévère révélant une hypothyroïdie profonde, chez deux adultes âgés respectivement de 49 et 57 ans.

Headache in a young woman: do not forget Susac's syndrome.

Susac syndrome is a rare disease characterized by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. This underdiagnosed condition needs to be considered in the differential diagnosis of a broad variety of disorders. An early diagnosis is important as treatment can halt disease progression and prevent permanent disability. Herein, we report a case of Susac syndrome in a 31-year-old woman and we highlight how challenging an early diagnosis was and the importance of an aggressive therapeutic approach, including the combination of steroids and other cytotoxic drugs.

Successful treatment of refractory adult onset Still's disease with rituximab.

Adult-onset Still's disease (AOSD) is an uncommon inflammatory condition of unknown origin. In chronic disease, joint involvement is often predominant and erosions are noted in one third of patients. Therapeutic strategies derive from observational data. Corticosteroids are usually the first-line treatment. With inadequate response to corticosteroids, methotrexate appears the best choice to control disease activity and allow for tapering of steroid use. For refractory disease, biological therapy seems the most promising. We report here the case of a 38-year-old female patient with AOSD refractory to cytotoxic agents, treated by rituximab infusion therapy with favorable outcome.

Polymorphisms of the NOS3 gene in Tunisian patients with Behçet's disease.

Behçet's disease (BD) is a multisystem inflammatory disease characterized by recurrent orogenital ulceration, ocular inflammation and skin lesions. Reduced plasma nitric oxide (NO) levels in patients with BD have been implicated in the development of the endothelial abnormalities and thrombotic complications occurring in these patients. Polymorphisms in the endothelial nitric oxide synthase gene (NOS3) have been inconsistently associated with BD. This inconsistency may derive from population stratification secondary to ethnic diversity, and consideration limited to only one rather than combinations of polymorphisms. We studied three genetic variations in the NOS3 gene: a single nucleotide polymorphism in the promoter region -786T>C, in exon 7 (Glu298Asp), and a variable number of tandem repeats in intron 4 (4a4b) of the NOS3 gene in 100 unrelated Tunisian patients with BD and 148 healthy controls. In addition, we also examined the association of NOS3 gene haplotypes with BD. Analyses of the Glu298Asp, -786T>C and 4a4b polymorphisms were made by the polymerase chain reaction (PCR) restriction fragment length polymorphism technique and PCR genotyping, respectively. The distribution of the Glu298Asp genotype differed significantly between patients with BD and controls (P = 0.01). Allele Asp298 was significantly more frequent in patients with BD than in controls (P = 0.005, OR = 1.70, 95% CI 1.14-2.54). In contrast, distribution of alleles and genotypes of -786T>C and 4a4b polymorphisms was not different between the control and BD group. However, the frequency of Asp-T-4b haplotype was significantly higher in patients with BD than in healthy controls. By gender, the signification remained only for heterozygous men (P = 0.03) and homozygous women (P = 0.02). These results suggest that Glu298Asp polymorphism of the NOS3 gene is associated with BD susceptibility in Tunisian patients.

Inflammatory optic neuropathy in Behçet's disease.

Inflammatory optic neuropathy (ON) is a rare event in Behçet's disease (BD). We report herein a series of ten BD Tunisian patients with ON and describe its clinical features among them. A retrospective review of BD patients (International Study Group for BD criteria) was performed. The patients were divided into two groups: those presenting an inflammatory ON, and those none. The diagnosis of inflammatory ON was based on the clinical examination, visual field and visual evoked potentials. We analyzed the characteristics of the two groups. Ten patients (2.3%) presented an inflammatory ON among our 440 patients. Inflammatory ON was inaugural in 8 cases. Clinical manifestations were as follows: blurred vision (7 cases) and periorbital pain (3 cases). In two cases, the patients did not complain from ophthalmological symptoms. The fundus revealed a papilledema (2 cases), papillary pallor (4 cases), and was normal in 5 cases. Visual field realized in only three patients showed a scotoma in all cases. Visual evoked potentials revealed increased latency in all cases. All patients received corticosteroids associated to an immunosuppressive agent. The comparative study between the two groups revealed that inflammatory ON was significantly more associated to neurological involvement (p<0.0001) and that the disease was more severe in the ON group (p<0.0001). Inflammatory ON in BD is rare and may occur at an early stage of the clinical course of the disease. Its prevalence is certainly underestimated. A systematic visual evoked potential may be interesting as a screening tool.

Chest pain in patients with undiagnosed Behçet's disease.

Behçet's disease (BD) is a systemic inflammatory disease having a chronic and prolonged course with 4 major symptoms: oral and genital ulcerations, eye disease and cutaneous manifestations, as well as other multisystem involvements. Arterial involvement is a comparatively rare complication in BD and coronary lesions are extremely rare. We report here two cases of BD presenting as myocardial infarction (MI) with coronary artery aneurysm (CAA), with good improvement after immunosuppressive therapy.

[Ulcerations of the extremities: An unusual manifestation of Behçet's disease]. / Ulcérations des extrémités : une manifestation inhabituelle de la maladie de Behçet.

BACKGROUND: Although cutaneous and mucosal involvement is a major manifestation in Behçet's disease, ulcerated lesions of the extremities are exceptional and poorly known. CASE REPORT: A 57-year-old male patient was diagnosed 7 years ago with Behçet's disease. This diagnosis was made in the presence of recurrent bipolar aphtous ulcers, pseudofolliculitis lesions and retinal vasculitis. After having been lost to follow up for two years, during which his treatment was discontinued, he presented centimetric necrotic ulcerations of the fingers of the hand and of the right big toe. The biopsy revealed leucocytoclastic and necrotizing vasculitis. The patient improved with antibiotic, oral corticosteroids, colchicine and local care. CONCLUSION: Linking extremity ulcers with Behçet's disease, though sometimes difficult, is essential for proper management.

Budd-Chiari syndrome associated with Behçet's disease.

OBJECTIVES: Budd-Chiari syndrome is a rare and serious complication of Behçet's disease, and is the result of occlusion of the major hepatic veins, the adjacent inferior vena cava, or both. The aim of this study was to determine the prevalence, clinical and laboratory findings, and treatment and clinical course of Budd-Chiari syndrome associated with Behçet's disease. METHODS: We analyzed retrospectively the charts of 220 patients fulfilling the international diagnostic criteria of Behçet's disease. From them, we selected those with Budd-Chiari syndrome, and analyzed their epidemiological and clinical imaging features and outcomes. RESULTS: Seven male patients, mean age 29 years and already diagnosed with Behçet's disease, had Budd-Chiari syndrome. The clinical course was from subacute to chronic in all cases. Thrombosis of hepatic veins was associated with inferior vena cava thrombosis in six cases. Four patients had other venous thromboses (superior vena cava and lower limbs) and one also had pulmonary emboli. One patient was positive for anticardiolipin antibodies. All patients had anticoagulation therapy, and six had high-dose corticotherapy associated, in two cases, with monthly cyclophosphamid intravenous pulses. Clinical outcome was favourable in six cases, and one patient died of hepatic failure. CONCLUSION: The prevalence of Budd-Chiari syndrome in patients with Behçet's disease is 3.2%, confirming that this syndrome is not uncommon in Behçet's patients. The inferior vena cava is frequently involved in combination with hepatic veins and often associated with other venous thrombosis. The prognosis may be favorable with medical interventions, including anticoagulation, treatment of the vasculitis and the use of diuretics when required.

[Langerhans' cell histiocytosis of the dorsal spine. A rare etiology of spinal cord compression]. / Localisation dorsale d'une histiocytose langerhansienne responsable d'une compression médullaire.

INTRODUCTION: Langerhans cell histiocytosis of the thoracic spine is a rare condition in adults. It is a serious condition with an increased risk of spinal cord compression. EXEGESIS: A 55-year-old man complained of lumbar and back pain. He developed a spastic paraparesis. Magnetic resonance imaging of the spine showed a spinal cord compression due to bone and epidural tumoral lesions of the eleventh and twelfth thoracic vertebrae, located in the posterior elements of the spine. A surgical biopsy showed an infiltrate of eosinophilic cells, positive for CD1a in immunohistochemistry studies. Final diagnosis was therefore langerhans cell histiocytosis of the thoracic spine complicated by spinal cord compression. The patient received glucocorticoid therapy combined with vinblastine followed by local radiotherapy and etoposide. However, the neurological deficit persisted and the patient finally died. CONCLUSION: Langerhans cell histiocytosis is a rare cause of spinal cord compression.

[Pulmonary hyalinizing granuloma revealed by a pituitary gland diffusion]. / Granulome pulmonaire hyalinisant révélé par une localisation à la base du crâne.

INTRODUCTION: Pulmonary hyalinizing granuloma is a rare fibrosing lesion of the lung, characterized by its histological appearance which includes central whorled deposits of lamellar collagen. The extrapulmonary diffusion of the disease is extremely rare, and in our knowledge any case of pituitary diffusion has ever been reported in the literature. EXEGESIS: We reported an unpublished case of a 31-year-old woman presenting with amenorrhea, galactorrhea, diplopia, headache, polyuria and polydipsia. The diagnosis of pulmonary hyalinizing granuloma revealed by an intracranial localization was based on radiologic and pathologic findings. Clinical course was favourable with corticotherapy. CONCLUSION: Our report is particular because cerebral localization was the initial manifestation of primary hyalinizing granuloma and because of the favourable outcome with corticotherapy.

[Thrombophilia in systemic lupus erythematosus: A case-control study]. / Les marqueurs de thrombophilie au cours du lupus érythémateux systémique : une étude cas-témoin.

INTRODUCTION: To investigate the thrombotic tendency in patients with systemic lupus erythematosus (SLE) by evaluating congenital and acquired abnormalities with an increased risk of thrombosis. PATIENTS AND METHODS: A total of 53 patients with SLE were included in the study. Fifty-three healthy controls paired by age and sex were assessed. Anticardiolipin antibodies (aCL), anti ß2 glycoprotein (aß2GP), lupus anticoagulant (LAC), protein C (PC), protein S (PS), antithrombin (AT), acquired activated protein C, and homocysteinemia were evaluated. Comparisons for categorical variables were analyzed by Chi2 and student tests. RESULTS: The patients were all female and had a mean age of 30.6 years (16/58). The healthy controls were all female and their mean age was 30.8 years (17/56). Five patients (9.4%) developed venous thrombosis during the 24 months of follow-up. The antiphospholipid antibodies were positive in 17 patients (32.1%) and negative in all healthy controls (P=0.01). PS deficiency was noted in 17 patients (32.1%) and in 5 controls (P=0.004). Hyperhomocysteinemia was noted in 16 patients (30.2%) versus 3 controls (5.6%) (P=0.002). Test for PC deficiency and acquired activated protein C showed no significant difference between the two groups. No AT deficiency was found in the patients. The study of clinical and biological correlations based on the presence and absence of thrombophilic parameters concluded to a significant association between Protein C deficit and thrombosis (P=0.02) and acquired activated protein C resistance and thrombosis (P=0.04). There was no significant association between the APL and thrombosis. CONCLUSION: Thrombophilic abnormalities were significantly more frequent in lupus patients than in healthy controls. Thrombotic events were significantly associated with PC deficit and acquired protein C resistance. There was no correlation between antiphospholipid antibodies and thrombosis.

[Etiological profile of secondary Raynaud's phenomenon in an internal medicine department. About 121 patients]. / Profil étiologique d'un phénomène de Raynaud secondaire dans un service de médecine interne. À propos de 121 patients.

INTRODUCTION: Raynaud's phenomenon is a reversible episodic vasospastic disorder triggered by cold or emotion. Two types of Raynaud's phenomenon were distinguished: Raynaud's disease and secondary Raynaud's phenomenon. The purpose of this study was to determine the etiologic profile of secondary Raynaud's phenomenon in an internal medicine department. METHODS: A descriptive retrospective study including patients with secondary Raynaud's phenomenon followed in a tertiary internal medicine department between 2000 and 2013. RESULTS: We included 121 patients. The sex ratio M/F was 0.16. The mean age at the onset of Raynaud's phenomenon was 41.7 years. The average age of patients at the time of the etiologic diagnosis was 47.3 years. The mean delay between Raynaud's phenomenon onset and the first consultation was 41.33 months. Raynaud's phenomenon involved hands in all cases and feet in 16.10% of cases with a typical form in most cases (41.4%). Complications (digital ulcers and scars) were noted in 32.23% of cases. Nail fold capillaroscopy showed scleroderma pattern in 49.52% of patients. Antinuclear antibodies were positive in 88.49% of patients. Interstitial lung disease was reported in 54.04% of cases. Connective tissue diseases were diagnosed in 86.77% of patients. Other secondary Raynaud's phenomenon causes were vasculitis (6.61%), atherosclerosis (1.65%) and medical or professional causes (1.65%). The most frequent one cause systemic sclerosis (n=61, 98%) followed by systemic lupus erythematosus (11.57%) and primary Sjögren syndrome (6.61%). CONCLUSION: In our study, the Raynaud's phenomenon was most frequently secondary to connective tissue diseases. This may be a selection bias because our department is a third-line unit where patients are often referred for systemic disease suspicion.

Behçet's disease in Tunisia. Demographic, clinical and genetic aspects in 260 patients.

OBJECTIVES: To analyze demographic, clinical and genetic features of Behçet's disease (BD) in Tunisia and to compare them with other ethnic and geographic groups. METHODS: Two hundred and sixty patients with BD (International Study Group criteria) received in the Department of Internal Medicine of the University Hospital La Rabta in Tunisia, from 1987 to 2006, were retrospectively studied. Demographic, clinical, and genetic data were recorded and analyzed using SPSS 11.0. RESULTS: The cohort consisted of 188 males and 72 females (M/F = 2.61). The mean age at the onset of the disease was 29 years. Oral and genital ulcers (GU) were seen in 100% and 83% respectively. The most other common clinical features of BD were ocular involvement (51%), arthritis (38.8%), venous thrombosis (33%) and neuropsychiatric symptoms (24.2%). Only 1.5% had gastrointestinal lesions. HLA-B51 frequency was significantly higher in patients with BD (54% vs. 25.5% in healthy controls, p < 0.05). DVT and pseudofolliculitis were significantly more frequent in men whereas arthritis and erythema nodosum were significantly more frequent in women. DVT was also significantly more frequent in patients with GU and those with neurological involvement. GU, positive pathergy test and DVT were significantly less frequent in patients with ocular involvement. Neurological involvement consisted of 47 cases with CNS parenchymal lesions and 22 with cerebral vascular lesions (13 had both lesions); HLA B51 was significantly less frequent in patients with neurological involvement. CONCLUSION: Our series was characterized by particular aspects such as high frequency of DVT and neuropsychiatric involvement, and rare occurrence of gastrointestinal lesions. The results confirm the ethnic and geographic variation of BD expression.

[Unusual presentation of visceral leishmaniasis in an immunocompetent patient]. / Mode de révélation inhabituel d'une leishmaniose viscérale chez un sujet immunocompetent.

Visceral leishmaniasis due to Leishmania infantum is endemic in Tunisia. The incidence in adult patients has increased in recent years; but most of these patients are not HIV positive as in other Mediterranean countries where all the cases are associated with HIV. We present the case of a woman with symptoms suggestive of leishmaniasis but whose bone marrow was sterile and whose serological tests for Leishmania spp. were negative. For this patient, the parasite was only detected in a routine duodenal biopsy. There are few reports of visceral leishmaniasis cases diagnosed by duodenal biopsy and almost all patients were HIV positive in that case. Thus it seems interesting to perform a duodenal biopsy in case of a difficult diagnostic even in the absence of gastrointestinal symptoms and/or HIV infection.

[Behçet's disease associated with peripheral neuropathy]. / Neuropathie périphérique au cours de la maladie de Behçet.

INTRODUCTION: The involvement of the peripheral nervous system in Behçet's disease is very rare. CASE REPORT: We report a case of a 47-year-old man with a six-year history of Behçet's disease and a two-year history of peripheral nervous system involvement. This patient presented with paraesthesia and weakness of the upper and lower limbs, diarrhea and erectile dysfunction. The electromyogram showed evidence of an axonal sensorimotor neuropathy and the nerve biopsy showed an axonal neuropathy. Routine blood tests were normal, there was no increase of serum creatine kinase, aspartate aminotransfease or lactate dehydrogenase and no signs of hyperthyroidism. Fibroscopy and colonoscopy showed no signs of entero-Behçet. The patient was treated with prednisone, cyclophosphamide and carbamazepine with an improvement of paraesthesia. CONCLUSION: The mechanism of the peripheral neuropathy in Behçet's disease is still unknown, it might be due to vasculitis of the vasa nervorum or to the side effects of colchicine. Our report is particular by the association of sensorimotor and autonomic involvement of peripheral neuropathy in a patient with Behçet's disease.

[Disseminated form of Rosai-Dorfman disease. A case report]. / Forme multifocale d'une maladie de Rosai-Dorfman. A propos d'une observation.

INTRODUCTION: Extranodal involvement in sinus histiocytosis with massive lymphadenpathy (SHML) or Rosai-Dorfman disease is common, seen in 43% of cases. We present a case of disseminated form of SHML with thyroid, renal, bone and lung involvement. EXEGESIS: A 53-year-old woman presented with cervical lymphadenopathy and a large palpable mass in the submandibular area. A thyroid nodule was palpable. Laboratory data showed an increase of the erythrosedimentation rate and a polyclonal hypergammaglobulinemia. Histopathological examination of a cervical lymph node biopsy showed typical features of SHML. CT scan showed enlargement mediastinal lymph node, mass of the right lung and infiltrative mass in the right renal hilium. Radiographs revealed lytic lesions in the right proximal tibia and left patella. Histopathology of a biopsy from the kidney mass and thyroidectomy displayed typical characteristics of SMHL. The patient was treated by steroids with a markedly regression of the kidney and renal masses. CONCLUSION: Multiple extranodal involvement in SMHL is rare, the prognosis may be poor when lesions are massive and involve vital organs.

Microscopic polyangiitis associated with primary biliary cirrhosis, Sjogren's syndrome and Hashimoto's thyroiditis.

The association between microscopic polyangiitis (MPA) and primary biliary cirrhosis (PBC) has seldom been reported. We describe here a patient who presented with sensorimotor neuropathy along with hypothyroidism, renal failure and liver dysfunction. Detection of antinuclear antibodies at a titer of 1/800, anti-SSA, anti-SSB, anti-GP210, anti-microsomial and p-ANCA anti-myeloperoxydase antibodies along with renal, salivary and liver biopsy led to a diagnosis of MPA associated with PBC, Sjogren's syndrome and Hashimoto's thyroiditis.

[Pulmonary arterial aneurysms in Behçet's syndrome. Report of 4 cases]. / Anévrismes des artères pulmonaires au cours de la maladie de Behçet. A propos de 4 cas.

Pulmonary involvement in Behcet's disease is uncommon and pulmonary arterial aneurysms are present in about 1 to 7% of patients. But despite their scarcity, they represent a life-threatening complication and are usually regarded as of a poor prognosis. Our study aims to describe the epidemiological and therapeutic aspects of this condition. Among 180 patients with Behcet's disease according to the criteria of the international study group for Behcet's disease, four were diagnosed as having pulmonary artery aneurysms (2.22%). All were male, the mean age at the time of the diagnosis of pulmonary artery aneurysms was 29.8 years and the mean disease duration was 6.6 years. Hemoptysis was the presenting symptom in all cases. The patients were treated by corticosteroid, colchicine and cyclophosphamide pulses. The outcome was good with disappearance of hemoptysis in all cases and disappearance of pulmonary aneurysms in three. One patient had recurrence of aneurysms 40 months after the first episode and died 18 months later. So, we can hope, thanks to medical treatment, a better outcome than previously reported in this complication.

[Intracardiac thrombus in Behçet's disease. A report of three cases]. / Thrombus intracardiaque au cours de la maladie de Behçet. A propos de trois cas.

Intracardiac thrombus formation is exceptional in Behçet's disease (less than 50 cases had been reported). Among 180 patients with Behçet's disease (according to the criteria of the international study group for Behçet's disease), three were diagnosed as having intracardiac thrombus. All were male, the mean age at the time of the diagnosis of the intracardiac thrombus was 27 years and the mean disease duration was 4.8 years. The presenting symptom was hemoptysis in two patients and heart failure in the third. Surgery was the first attempted treatment in two patients but thrombus recurred and resolved after medical treatment. The third patient was given corticosteroids and anticoagulants as the first line treatment. The thrombus did not resolve and the patient declined surgery. Intracardiac thrombus formation should be considered when a young Behçet's disease patient presents with an intracardiac mass. Medical treatment including corticosteroids, immunosuppressive drugs and anticoagulants should be considered as the first line treatment and surgery should be considered when there is no resolution of the thrombus or when it becomes massive and extensive. In certain cases, thrombolytic treatment becomes an interesting alternative to surgery.