[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.

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.

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.

[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.

[Adult-onset Still's disease revealed by a pericardial tamponade: report of two cases]. / Tamponnade révélant une maladie de Still de l'adulte: à propos de deux observations.

INTRODUCTION: Adult onset Still's disease is a systemic inflammatory disorder of unknown etiology characterized by the association of a high spiking fever, an evanescent skin rash, arthritis, and hyperleukocytosis. Pericarditis is amongst the most common systemic manifestations of adult onset Still's disease. EXEGESIS: We report on two patients with a pericardial tamponade revealing an adult onset Still's disease in a 52-year-old female and a 31-year-old male. Pericardial fluid was bloody in the two cases, and histopathology only disclosed non specific inflammatory changes. Both patients received corticosteroids and outcome was uneventful with a follow-up of 8 years and 12 months, respectively. CONCLUSION: Pericardial tamponade is an uncommon clinical feature of adult-onset Still's disease and usually occurs at disease onset. It makes the diagnosis of adult-onset Still's disease difficult as the other disease manifestations are commonly neglected. Adult onset Still's disease should be added to the differential of acute pericarditis and tamponade.

Amyloidosis in Behcet's disease.

Behcet's disease (BD) is a multisystem vasculitis with protean manifestations. It is characterized by a heightened state of inflammation, although the factors that initiate and sustain this inflammation are not clear. We report some cases of BD-associated amyloidosis and have similar features. The patients developed nephrotic syndrome due to secondary amyloidosis, which was refractory to the immunosuppressive agents. Two patients expired and the third was lost to follow-up during the course. The BD complicated with amyloidosis is associated with high mortality despite the current aggressive therapy.

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.

Deep vein thrombosis in Behçet's disease.

OBJECTIVE: We aimed to describe the epidemiological and clinical aspects of deep vein thrombosis (DVT) in Behçet's disease (BD) and to determine the patients at high risk for this complication. METHODS: Among 113 patients with BD according to the international criteria for classification of BD, those with DVT were retrospectively studied. The diagnosis of DVT was made in all cases using conventional venous angiography, venous ultrasonography and/or thoracic or abdominal computed tomography. Patients were divided in two subgroups according to the occurrence of DVT other than cerebral thromboses. The medical records of these patients were reviewed in order to investigate their past medical history and evaluate their response to the treatment prescribed. Clinical and genetic factors (HLA B51 and MICA 6) that might contribute to DVT were analysed by comparing patients with and without DVT. Results of our series were compared to those of other series in the literature. Statistical analysis was by Chi square with necessary correction and Fischer tests. RESULTS: Forty-four patients (38.9%) had deep vein thrombosis of various systems with 81 localisations. There were 40 men and four women (mean age 28.1 years; range 17-60). DVT appeared after the onset of disease with a mean delay of 3.8 years. In 6 cases, DVT revealed BD. When we evaluated the risk of DVT coexistence with other clinical findings and genetic factors (HLA B51 and MICA 6), we found a significant positive correlation with sex, and positive pathergy test. CONCLUSION: In our series, occurrence of DVT was significantly associated with male gender and positive pathergy test.

[Intracardiac lipoma revealed by arrhythmia]. / Arythmie cardiaque révélant un lipome intracardiaque.

Cardiac tIssue is a very rare localization for benign lipoma. Interseptal lipoma and lipomatous hypertrophy of the interatrial septum are two distinguished entities. We report the case of a 58-year-old patient who developed lipomatous hypertrophy of the interatrial septum which was revealed by arrhythmia. Diagnosis was suspected at magnetic resonance imaging and was confirmed intraoperatively and histologically.

[Thoracic empyema in very old patients: two types of clinical presentation]. / Empyème pleural chez le sujet âgé: deux types de présentation clinique.

INTRODUCTION: Primitive thoracic empyema or empyema secondary to pneumonia represents a significant medical problem necessitating prolonged hospitalizations and increasing the rates of morbidity and mortality. Average patient age is 55 years and remains rare in very old patients (> 85). We report here two observations in very old patients, pointing out the diversity of the clinical presentation. EXEGESIS: Empyema thoracis is classically associated with underlying diseases. It is often polymicrobial but Gram-positive bacteria and anaerobes are more frequent than Gram-negative bacteria. The clinical presentation may be aspecific without any parameters in favor of infectious disease: the rapidity of pleural drainage and antibiotic therapy are the main prognostic factors. CONCLUSION: Because of the diversity of clinical presentation in the elderly population, and because of the efficiency of rapid treatment, geriatric physicians should perform an examination of pleural fluid when pleural effusion is unknown.

[Neurologic manifestations of Behcet's disease: analysis of a series of 27 patients]. / Les manifestations neurologiques de la maladie de Behçet: analyse d'une série de 27 patients.

PURPOSE: To describe epidemiological and clinical characteristics of neurological involvement in Behçet's disease (BD) and to determine a subgroup of patients at high risk for this complication. PATIENTS AND METHODS: The medical notes of 105 patients with BD fulfilling the criteria of the international Study Group for Behçet's disease were retrospectively reviewed. Patients were divided into two groups according to the presence (group 1) or not (group 2) of neurological and/or psychiatric involvement attributable to BD. The epidemiological, clinical and genetic (HLA B51 and MICA 6 frequency) features in the two groups were analysed and compared using the Kruskall-Wallis and the chi-square tests. RESULTS: Twenty-seven patients (25.7%) had clinical evidence of neurological involvement. They were 20 men and 7 women. The mean age at neurological onset was 34.26 +/- 8.79 years. Nineteen patients (70.3%) had meningoparenchymal "MP" central nervous system involvement (brainstem: 9, hemispheric involvement: 6, spinal cord: 4, psychiatric involvement: 2, isolated pyramidal signs: 1, aseptic meningitis: 1). Seven patients (25.9%) had cerebral large vessels involvement that is cerebral angio-Behçet "CAB" (intracranial hypertension: 5 cases due to cerebral venous thrombosis: 3 and pseudotumor cerebri: 2, cerebral haemorrhage: 1, cerebral arterial thrombosis: 1). One patient (3.7%) had both "MP" and "CAB" involvement. Headache was significantly more frequent in non-parenchymal patients. In group 1, complete recovery or improvement with mild neurological impairment was seen in 13 cases, improvement with severe disability in 3 cases, worsening in 1 case, the course was stationary in 1 case and 3 patients died (11.2%). Arterial aneurysms were significantly more frequent in "CAB" subgroups than in subgroup 2. CONCLUSION: Frequency of neurological involvements in BD was high in our study. Arterial aneurysms seem to be a risk factor to these complications. Cerebral angio-Behçet appears to be a protector factor against uveitis.

[Association of a pulmonary, breast and cerebral tuberculosis]. / Association d'une tuberculose pulmonaire, mammaire et cérébrale.

INTRODUCTION: The concomitant unexpected arrival of a breast tuberculosis and cerebral tuberculomas to a same immunocompetent patient has not been ever described in the literature. EXEGESIS: We report the case of an non-HIV-infected woman who presented a pulmonary, breast tuberculosis and intracranial tuberculomas. Investigation for acid-fast bacilli in sputum and cerebrospinal fluid was negative. The patient received an antituberculous therapy for 15 months, which led to the disappearance of the cerebral lesions. CONCLUSION: Our case was particular by the affected organs, the absence of immunodeficiency and the favorable outcome.

[Pseudotumoral adenopathies, an unusual means of detecting systemic amyloidosis]. / Adénopathies pseudotumorales, mode exceptionnel de révélation de l'amylose systémique.

INTRODUCTION: It is uncommon that lymph node enlargement is diagnostic of systemic amyloidosis as found in the case reported in this study. EXEGESIS: This study examined the case of a 49-year old male with chronic bronchitis in whom in 1990 the presence had been detected of an isolated cervical lymphadenopathy, 2 cm in diameter, and which had previously remained unnoticed. In 1993, a significant number of other peripheral adenopathies also appeared in various locations, i.e., cervical, axillary, inguinal. Chest and abdominal CT-scans revealed several mediastinal and abdominal lymphadenopathies. The histological study with Congo red stain of a cervical lymph node biopsy determined the diagnosis of amyloidosis. The patient was at that time asymptomatic. In September 1997, upon physical examination the following were found: lower limb edema, superior vena cava syndrome, and several cervical lymphadenopathies. Abdominal ultrasonography showed enlarged kidneys, and homogeneous splenomegaly. Biological examination determined the existence of a nephrotic syndrome with renal failure and creatinemia of 350 mumol/L. Due to superior vena cava syndrome worsening, cervical lymph node removal was performed. However, the patient died after rapid renal failure. CONCLUSION: Although it is a rare occurrence, amyloidosis should be taken into consideration in the differential diagnosis of isolated lymphadenopathy. Congo red stain amongst others, and an immunohistochemical study should be performed in cases of uncertain diagnosis.

[Bilateral optic neuropathy in a case of primary Gougerot Sjögren's syndrome]. / Une neuropathie optique bilatérale au cours du syndrome de Gougerot Sjögren primitif.

INTRODUCTION: Primary Sjögren's syndrome is frequently characterized by a sicca syndrome without associated connective tissue disease. Association with an optic neuropathy is uncommon. CASE REPORT: We report a case of optic neuropathy in a 59-year-old woman known to have primary Sjögren's syndrome confirmed clinically and histologically 2 years ago. She suddenly presented an initial bilateral visual loss. The ophthalmological exam noted a visual acuity of 1/10 in the right eye and limited to light perception in the left eye, with bilateral optic ischemic neuropathy more developed in the left eye. Fluorescein angiography showed, signs of ischemic neuropathy. The diagnosis of Horton disease was suspected, but subnormal blood velocity and a negative biopsy of the temporal artery confirmed the diagnosis of optic neuropathy associated with primary Sjögren's syndrome. General steroid therapy improved optic neuropathy in the right eye but was ineffective in the left eye. CONCLUSION: Optic neuropathy associated with Sjögren's syndrome is rare but must be considered the most common ophthalmological manifestation of the disease. Visual prognosis depends on the rapidity of diagnosis and therapy.