Reactive hemophagocytic lymphohistiocytosis: Epidemiological, clinico-biological and etiological profile.

Hemophagocytic lymphohistiocytosis (HLH) is an hyperinflammatory state resulting from increased secretion of proinflammatory cytokines, which are responsible for clinical, biological and cytological manifestations. OBJECTIVE: The aim of our study is to describe the epidemiological, clinical, biological, etiological and evolutionary profile of HLH in Tunisia. METHODS: A retrospective study that involved patients, with images of hemophagocytosis in myelograms analyzed at the laboratory of biological hematology of the University Hospital "Hédi-Chaker" of Sfax-Tunisia, followed at these departments: hematology, internal medicine, department of infectious-diseases and department of gastroenterology, (June2017- May2021). First, we identified all patients with hemophagocytosis images. Secondly, we selected the patients who fulfilled the diagnostic criteria of the HLH-2004-score. RESULTS: Nineteen patients were included in this study. Nine men and 10 women with a mean age of 37.95 years. Fever was present in all patients. Organomegaly was described in 74% of cases. The most frequent cytopenia was anemia (100%). Hypertriglyceridemia was noted in 79% of cases and hyperferritinemia (> 500 ng/mL) was ubiquitous. In myelogram, 68% of patients had slides showing numerous or very numerous images of hemophagocytosis. The infectious pathology was the most common cause of HLH (42%). No cause was found in 10% of cases. The corticosteroid therapy at a dose of 1 mg/kg/day was prescribed in 89% of our patients. The overall evolution was favorable in 58% of cases. The mortality was not associated with the causal pathology (p=0.218). CONCLUSION: Secondary HLH is likely to be under-recognized, which contributes to its high morbidity and mortality. Early recognition is crucial for any reasonable attempt at curative therapy.

[Aspirin and prevention of the recurrence of venous thromboembolism]. / Aspirine et prévention de la récidive de la maladie veineuse thromboembolique.

After a first episode of unprovoked vein thrombosis, the risk of recurrence persists for many years. Long term of anticoagulant therapy prevents the recurrence of vein thrombosis but is associated with a major risk of bleeding. As platelets play a role in the initiation and propagation of venous thromboembolism as well, antiplatelet agents, may play a role in the treatment and prevention of this disease. This review summarizes available evidence on effect of aspirin in the prevention of recurrent deep vein thrombosis.

Orbital inflammatory pseudotumor revealing multi-organ immunoglobulin G4-related disease.

Relatively recently, the concept that immunoglobulin G4 (IgG4)-related disease is a distinct chronic inflammatory disorder rather than a subset of Sjögren's syndrome has been accepted. IgG4-related disease (IgG4-RD) is a fibro-inflammatory systemic immune-mediated condition that can affect the pancreas, salivary glands, and lymph nodes. Almost every organ may be impacted synchronously or metachronously by this illness, which causes the development of sclerotic masses of varying sizes. Numerous other rheumatic diseases can present with characteristics of IgG4-RD, making it difficult to distinguish between them. However, cases of IgG4-RD involving the bilateral orbits, and pancreas with biological abnormalities are rare. We present a case of an 18-year-old female with vitiligo since the age of 3 years who presented with acute pancreatitis and acalculous cholecystitis, bilateral orbital masses, palpebral edema, and eosinophilia. The patient was diagnosed with IgG4-RD in keeping with clinical presentation and the elevated serum IgG4 level and after elimination of other differential diagnoses. The patient's symptoms gradually relieved after glucocorticoid therapy. This case presents an uncommon combination of clinical features infrequently reported in the literature. Multi-organ IgG4-RD is a multisystemic mass, commonly creating diagnostic challenges for clinicians. Furthermore, and more importantly, it highlights the need to keep a differential of IgG4-RD in mind, to aid in the early and correct treatment of the disease.

Agranulocytosis in systemic lupus erythematosus: A case report.

Agranulocytosis is a rare acute condition characterized by severe a < gft (neutropenia in which the neutrophils count is less than 100/mm3. It can be classified into two categories, inherited, and acquired. Acquired agranulocytosis is not commonly caused by auto-immune diseases such as systemic lupus erythematosus (SLE). We report a case of a patient suffering from agranulocytosis related to SLE at disease onset, associated with other rare disease involvements.

About a rare association: Guillain-Barré Syndrome and polymyositis.

Guillain-Barré syndrome (GBS) and polymyositis (PM) are two rare autoimmune diseases, one of which affects the peripheral nervous system and other the muscle. We report the case of a young woman with no previous medical history who was hospitalized with an ascending paralysis associated with acute respiratory failure due to a GBS. The patient was treated with plasmapheresis with unfavorable outcome and permanent proximal muscular disability. The diagnosis of an associated PM was retained based on biological myolysis and the results of electromyography and muscular biopsy. To our knowledge, this association of GBS and PM has been reported only once in the literature. The search for syndromic associations in the presence of an autoimmune helps to avoid diagnostic errors.

Coexistence of thrombotic thrombocytopenic purpura and adult-onset Still's disease.

The association of Thrombotic thrombocytopenic purpura (TTP) and adult-onset Still's disease (AOSD) is very uncommon. Hereby, we present a case of TTP occurring in patient with a known AOSD and the successful outcome after plasma exchanges.

Multifocal bone tuberculosis simulating metastasis.

Multiple skeletal tuberculosis can be the first sign of tuberculosis. In such cases, physicians should consider tuberculosis diagnosis and take biopsies for anatomopathological evidence to make the correct diagnosis.

Pure extra-thoracic sarcoidosis: about 24 cases.

Introduction. Pure extra-thoracic sarcoidosis is rare and poorly characterized in the literature. Herein we present features of pure extra-thoracic sarcoidosis, in comparison with sarcoidosis with intra-thoracic involvement, in a population from the south of Tunisia. Methods. Retrospective, descriptive and comparative study of the patients presenting systemic sarcoidosis and attending the Department of Internal Medicine at the Hedi Chaker University Hospital, Sfax, Tunisia, for 21 years, from January 1996 to December 2016. Results. Twenty-four patients presented pure extra-thoracic sarcoidosis (30% of the cases of systemic sarcoidosis). There was a female predominance (79%). The mean age was 50 years. The main features were polyadenopathies (10 patients: 41.7%), cutaneous involvement (10 patients: 41.6%), inflammatory polyarthralgia (8 cases: 33.3%), general symptoms (6 patients: 25%), uveitis (6 cases: 25%), cholestasis (3 cases) and kidney involvement (2 cases). Lymphopenia, hypercalcemia, and hypercalciuria were observed each one in 12.5% of the cases, and high angiotensin converting enzyme (ACE) level in 38.5% of the cases. The histological proof was required in all the patients. Statistically significant associations identified were mainly hepatic involvement with general symptoms (p=0.035), peripheral lymphadenopathies (p=0.035) and kidney damage (p=0.022), and cutaneous involvement with articular manifestations (p=0.032). Systemic corticosteroids were used in half of the cases, with a good outcome in 21 cases, and recurrence in two cases. One patient was lost to follow up. The comparison to the form with mediastino-pulmonary involvement showed less lymphadenopathies (p=0.001), less lymphopenia (p=0.006), and less frequent use of corticosteroids (p=0.044). Conclusion. Our series was characterized by the frequency of the pure extra-thoracic form and the diversity of the systemic manifestations.

Disseminated lymphoblastic lymphoma revealed by an isolated third cranial nerve palsy.

Dysfunction of the third cranial nerve can be provoked by a number of different conditions. An isolated cranial neuropathy as a first clinical sign of a non-Hodgkin lymphoma is very infrequent. We represent here an atypical case of lymphoblastic lymphoma revealed by an isolated third cranial nerve palsy. The patient was managed by alternating cycles of cyclophosphamide, vincristine, and prednisone. She made a full recovery with a complete resolution of the symptomatology.

Clinical and serological profile of systemic sclerosis in Tunisia: A retrospective observational study.

OBJECTIVE: The Prevalence of systemic sclerosis (SSc) and different clinical subsets varies across the world. Few data have been published on SSc patients in North Africa. Our objective was to describe a SSc cohort in south of Tunisia and to compare clinical findings, disease subsets and antibodies with other international SSc populations. METHODS: In this retrospective observational study, Folders of patients with SSc seen in the internal medicine section of the Hedi Chaker Hospital between 2000 and 2013 were retrospectively analyzed. The diagnosis of SSc was retained according to ACR/EULAR 2013 criteria. Patients were classified into diffuse cutaneous SSc and limited cutaneous SSc subsets. Comparison with other cohorts was made based on published information. RESULTS: A higher female: male ratio (8:1) and a higher diffuse subset prevalence (82%) was found in this Tunisian cohort comparing with others. We also found a lower prevalence of calcinosis and anticentromere antibodies. Within each subset, diffuse cutaneous and limited cutaneous scleroderma clinical findings were similar with other systemic sclerosis populations except for a very low prevalence in renal crisis and pulmonary hypertension. Our results indicate overlap syndrome defined as scleroderma associated with others connective tissue disorder's is a relatively common condition. CONCLUSION: With slight variations, perhaps due to genetic, environmental or referral factors, SSc in this cohort appears to be similar to that described in other part of the world.

Limited form of Wegener's granulomatosis in a patient with Crohn's disease. A case report.

Wegener's granulomatosis (WG) is a multisystemic disease of unknown etiology characterized by necrotizing vasculitis and granulomatous inflammation. Although, the gastrointestinal tract can be involved in this vasculitis, the association between WG and Crohn's disease (CD) exists and was previously described. We report the case of a 29 year-old Tunisian white patient previously diagnosed with CD, presenting 3 years later with a perforated nasal septum, mucosal ulcers and sinusitis. He had also a skin ulcerative eruption of the trunk. There was no evidence of a flare of his CD. A computed tomography scan of the head showed nasal septal perforation, and maxillary pansinusitis. A biopsy from the nasal septum demonstrated nasal mucosa with extensive necrotizing granulomatous reaction associated with vasculitis. The patient was diagnosed as having limited form of Wegener's granulomatosis. He was treated with prednisone 60 mg/day and methotrexate 15 mg weekly. After Two months of treatment, he had no complaints, skin eruption and orofacial lesions were improved. Although, the gastrointestinal tract can be involved in patients with WG, the association with a CD exists and was previously described. The distinction between the two conditions and their possible coexistence is very important and requires histological examination of involved tissue.

An unusual cause of optic neuritis: Rickettsiosis disease

Optic neuritis (ON) may be associated to a range of autoimmune or infectious diseases. We report herein a case of ON induced by Rickettsia conorii. A 53-year-old woman presented with a recent decrease in visual acuity and headache. ON was diagnosed on the basis of ophthalmologic examination and flash visual evoked potentials. Etiological investigation made in our department eliminated first autoimmune disorders (vasculitis and connective tissue diseases). Rickettsial optic neuritis was confirmed by detection of specific antibodies in serum and the negativity of other serologic tests. An association between corticosteroids and cyclines was prescribed with improvement of visual acuity.

Recurrent anterior uveitis with hypopyon revealing relapsing polychondritis.

Relapsing polychondritis (RP) is a rare disease involving cartilaginous structures, predominantly the ears, nose and laryngotracheobronchial tree. The eyes, cardiovascular system, peripheral joints, skin, and central nervous system may also be affected. Involvement of all ocular structures has been described. Non-granulomatous uveitis is a common feature; however hypopyon is uncommon. We herein present the case of a 42-year-old man who had been diagnosed with bronchial asthma for a long period; and who presented with recurrent hypopyon uveitis as a revealing manifestation of relapsing polychondritis. We emphasize that RP should therefore be considered in the differential diagnosis of sterile hypopyon uveitis.

Clinical and laboratory findings in 8 patients with Bloom's syndrome.

UNLABELLED: Bloom's syndrome is a rare autosomal recessive disorder caused by germline mutation of the BLM gene. The objective of this study was to illustrate the clinical, biological and genetic characteristics of this syndrome through Tunisian series. We report in a retrospective study 8 case of bloom's syndrome observed during 20 years. RESULTS: Our patients were 4 males and 4 females issued from 5 families. For all patients, the parents were consanguineous. The age was 13 to 39 years. The telangiectatic erythema was developed in all the patients between 6 months and 2 years old on the cheeks, on the nose, on the lips and the lower eyebrows. The photosensitivity was constant and was complicated by vesicules and bullae for 5 patients who had extensive lesions, three patients noted accentuation of their telangiectasic erythema. An improvement with the age was noticed for the first four patients. The growth deficiency was observed for all patients. It was marked, between -2 and -4 DS (standard deviation). The number of sister chromatid exchange was increased to twelve fold comparatively to normal subjects. Two patients developed a breast cancer; the evolution was fatal in one. Another patient developed a leukaemia, the evolution was also fatal. CONCLUSION: Bloom's syndrome is a rare genodermatitis. All the patients presented three symptoms: telangiectatic erythema, growth delay and photosensitivity associated with immunodeficiency. There is significant risk of cancer, so that follow up of patients is mandatory.

Tonsil amyloidosis revealing a Waldenström macroglobulinemia.

Localized amyloidosis of the tonsil is rare and its management depends on the etiology. We report a case of tonsil amyloidosis and review the characteristics of this exceptional pathology. A 74-year-old man consulted for odynophagia, upper dysphagia and deteriorated general health status, which have been evolving for 1 year. Clinical examination found a smooth swelling of the right palatine tonsil. No further abnormalities were noted. The biopsy findings were consistent with amyloidosis. Etiological assessment pointed to Waldenstrom macroglobulinemia. Tonsillectomy was performed. The patient was managed by chemotherapy associating chlorambucil, vincristine and prednisone. The progress after chemotherapy was good. Localized amyloidosis is a rare lesion of the superior aerodigestive tract, predominating in the larynx and tonsil involvement is exceptional. Its diagnosis is histological and its management depends on the etiology. Continued regular follow-up is necessary to look for recurrence.