Granulomatosis with polyangiitis in Tunisia.

Granulomatosis with polyangiitis (GPA) is more frequent in Northern rather than Southern countries. Very few studies have been conducted in Africa. We have performed a retrospective descriptive study including clinical and laboratory profiles of 30 Tunisian GPA patients seen at the department of Internal Medicine of the University Hospital of la Rabta from 2000 to 2014. Mean age at initial GPA diagnosis was 46±12 years, and the average number of months between the onset of symptoms and diagnosis was 25. Seventeen (56%) were male, and 13 (44%) were female. Ear/nose/throat involvement occurred in 83%. Lung and renal involvement were observed in respectively 70% and 56% followed by mucocutaneous (50%), neurological (50%), ocular (33%), vascular (20%), ureteral (16%), and cardiac involvement in 10%. Cytoplasmic pattern-antineutrophil cytoplasmic antibodies (ANCA) was detected in 27 (90%) patients. Induction therapy consisted of intravenous cyclophosphamide pulses in 27 patients (90%) and oral methotrexate in 3 patients (10%). Trimethoprime-sulfamethoxazole was used in 26 patients (86%). Maintenance therapy consisted of azathioprine in 17 cases and methotrexate in 13 cases. Relapses occurred in 36%. Eighteen patients had favorable outcome and 12 died. Our patients had a distinct phenotype with high prevalence of pleural involvement, lymph node enlargement, sensorimotor neuropathy and ureter stenosis. ENT symptoms were less frequent as inaugural presentation. Overall 2-year survival was 60%.

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.

[Paraparesis and fever in a Tunisian woman: cryptococcal spondylitis with spinal involvement]. / Paraparésie fébrile chez une Tunisienne: spondylite à cryptocoque avec atteinte médullaire.

Cryptococcus neoformans is a ubiquitous yeast that causes opportunistic infections mainly involving the central nervous system. Cryptococcoma is a rare entity characterized by a solid, tumor-like mass that is usually located in the cerebral hemispheres or cerebellum. Spinal involvement is rare with only 6 cases reported in literature. Bony involvement is also a rare occurrence that has been observed in only 5 to 10% of reported cases of infection by Cryptococcus neofomans. The purpose of this report is to describe a case of paraplegia due to cryptococcal spondylitis with spinal cord involvement in an HIV-seronegative patient with a history of systemic sarcoidosis. Diagnosis was achieved by histological examination of the surgical specimen.

[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.

[Chorea revealing a polycytemia vera]. / Chorée révélant une polyglobulie primitive.

Neurological manifestations in polycytemia vera are common. However, chorea is an exceptionally revealing feature of this disease. We report a 78-year-old man who presented with headache and an abnormal movement disorder corresponding to chorea. Laboratory findings showed increased levels of hemoglobin at 20 g/dl and hematocrit at 62.3%. An elevated erythrocyte mass to twice the normal value demonstrated the absolute erythrocytosis. A JAK2 V617F gene mutation was identified. A diagnosis of polycytemia vera-associated chorea was obtained. Clinical and biological outcomes were favorable after therapeutic phlebotomy and treatment with hydroxyurea. We recommend a complete blood cell count in elderly patient presenting with chorea to eliminate a diagnosis of polycytemia vera.

[Barraquer-Simons syndrome in a patient with systemic lupus erythematosus]. / Syndrome de Barraquer-Simons au cours d'un lupus érythémateux systémique.

Barraquer-Simons syndrome is a rare disorder characterized by a partial lipodystrophy. It is often associated with positive C3 nephritic factor and various glomerular nephropathy. Its association with some autoimmune diseases has also been reported. We report a 30-year-old woman with partial lipodystrophy, lupus erythematosus, hypothyroidism and vitiligo.