N. Khalfallah

Homocystéinurie à révélation tardive : aspect clinique, biologique et évolutif

UNLABELLED Homocysteinuria is a metabolic disorder with defect in genes encoding for methionine metabolism enzymes. The clinical features consist in: ophthalmic, neurological, orthopedic and vascular manifestations. It is generally diagnosed in childhood. Vascular involvements characterize adults forms. We report one case. OBSERVATION A 26-year-old man, who has lentis ectopia and a recent epilepsy, was hospitalized for deep vein thrombosis. Regarding the marfanoid phenotype and the high level homocysteinemia (231 micromol/L), homocysteinuria was suspected. Amino acid chromatography and reduced CBS activity were used to confirm the diagnosis. Vitamin enriched diet with vitamin B6 and folates has reduced slightly the homocysteine level. CONCLUSION Homocysteinuria must be diagnosed early since a simple vitamin supply could ameliorate prognosis and decrease complications.

Hypokalemic rhabdomyolysis: an unusual presentation of Sjogren's syndrome.

Hypokalaemic rhabdomyolysis represents a medical emergency requiring rapid diagnosis and appropriate aetiological treatment. Renal tubular acidosis is a common cause of hypokalemia which can be idiopathic or secondary to systemic disorders such as Sjogrens syndrome. It can remain asymptomatic or manifest with metabolic abnormalities including hypokalemia paralysis, hypocalcaemia and hyperchloremic metabolic acidosis. Rhabdomyolysis presenting with severe hypokalemia as the first manifestation of Sjogrens syndrome is rare. We report a case of a 59-year-old woman who presented to our department with severe weakness of all limbs. Laboratory examination demonstrated hypokalemic rhabdomyolysis caused by distal renal tubular acidosis. Investigations revealed Sjogrens syndrome as the underlying cause of the metabolic disorders.

Sternal tuberculosis in an immunocompetent adult.

Skeletal tuberculosis accounts for 1–3% of patients with mycobacterial infection. Any bone can be a site for tuberculosis, but sternum involvement is quite rare. We report the case of a 37-year-old woman admitted because of chest pain and increased swelling over the anterior chest. She was immunocompetent and had no systemic features. She was diagnosed with tuberculosis of the sternum without active pulmonary disease. Conservative management with oral multidrug antituberculous therapy completely cured the patient.

Osteomalacia as inaugural manifestation of Sjögren syndrome

Osteomalacia is a relatively common condition, which is frequently underdiagnosed due to lack of clinical suspicion and non-specific symptoms. Osteomalacia can complicate tubulo-interstital nephritis. However, it occurs exceptionally as the first manifestation of Sjögren syndrome with renal involvement. It is a consequence of chronic metabolic acidosis and is associated with distal renal tubular acidosis. We report a 31-year-old woman hospitalised for a 1 year history of muscle weakness and joint and chest wall pains. Skeletal imagery showed Looser’s zones in the left femoral neck. Investigations concluded to the diagnosis of primary Sjogrens syndrome.

Orbital metastasis as the inaugural presentation of occult rectal cancer

Orbital metastasis is uncommon and occurs in 2–3% of patients with cancer. It is rarely the initial manifestation of a systemic malignancy. It usually indicates extensive haematogenous dissemination of a primary cancer and is associated with poor prognosis. Breast, lungs and prostate cancers are the most common primary cancers leading to orbital metastasis. However, orbital tumour revealing a rectal adenocarcinoma is exceptional. We describe a case of orbital tumour in a 67-year-old man with no history of systemic cancer while presenting with ophthalmic symptoms. Investigations revealed rectal adenocarcinoma as the primary malignant tumour.

Haemophagocytic syndrome with disseminated intravascular coagulation associated with tuberculosis

Haemophagocytic syndrome (HPS) is a clinical entity that combines non-specific clinical and biological features. The diagnosis is usually confirmed by a bone marrow examination. HPS may be primary or secondary to a malignancy or to an infectious or autoimmune disease. Early aggressive survey of the aetiology and optimal treatment of the underlying disease improve the outcome of life-threatening HPS. Infection-associated HPS occurs predominantly in immunocompromised patients and is usually fatal. Leading trigger agents are viruses, especially the Epstein-Barr virus and cytomegalovirus. Mycobacterial infections associated with HPS are rare but should be considered in those patients where there is associated fever of unknown origin. We present a case of disseminated tuberculosis-associated HPS.

BAFF Promoter Polymorphisms and Serum levels in Tunisian Patients with Systemic Lupus Erythematosus

Objectives: To investigate any associations between regulatory genetic polymorphisms of the B-lymphocyte activating factor (BAFF) gene, disease susceptibility and serum soluble BAFF (s-BAFF) levels in Tunisian systemic lupus (SLE) patients. Patients and methods: This case-control study included 124 SLE patients and 152 healthy controls. Three single nucleotide polymorphisms (SNPs) (-2841 T>C, -2701 A>T and -871 C>T) in the 5’ regulatory region of the BAFF gene were explored by PCR-RFLP. Serum BAFF levels were measured by ELISA (R&D Systems®). Results: s-BAFF levels were elevated in SLE patients (1717.08 pg/ml) and in anti-dsDNA positive antibodies patients (1948.28 pg/ml) compared to both controls (665.82 pg/ml, p<10-8) and patients without anti-dsDNA antibodies (1281.51 pg/ml, p=0.007). In contrast, no correlation was found between global disease activity registered in SLEDAI and s-BAFF levels (p=0.7). The -2841*C mutated allele was associated to SLE predisposition and anti-dsDNA antibody occurrence, p=0.03 and p=0.021 respectively. Single allele, genotype and haplotype association analyses showed no significant association with s-BAFF values, clinical features or SLEDAI score. Conclusion: In Tunisian, the rs9514827 (T>C -2841) SNP in the BAFF gene promoter seems to be related to SLE susceptibility and anti-dsDNA antibodies occurrence. Even if serum s-BAFF levels were significantly higher in SLE patients and in anti-dsDNA antibody positive sera, it did not seem to be correlated with disease activity or the occurrence of lupus nephritis. Again, studied genetic markers failed to predict the serum s-BAFF levels as there was no correlation between the two parameters.

Liver involvement in tuberous sclerosis

Tuberous sclerosis complex (TSC) is a rare inherited disease that affects many organs and tissues, which explains the diversity of its clinical manifestations. This disease is often diagnosed at an early age when cutaneous angiofibromas, epilepsy and mental retardation are associated. The hepatic involvement in this phakomatosis is an uncommon location. In this context, we report the case of a tuberous sclerosis revealed in adulthood by abdominal pain and distension related to renal and hepatic angiomyolipomas associated with typical skin lesions.

Deep vein thrombosis and tuberculosis: a causative link?

Pulmonary tuberculosis is very devastating in developing countries and its thrombogenic potential is a disturbing new entity. We report an 18-year-old woman who presented with a first episode of deep vein thrombosis. Pulmonary, hepatic and splenic tuberculosis was diagnosed while looking for secondary causes. The patient was treated with rifampicin, isoniazid, pyrazinamide and ethambutol along with low-molecular-weight heparin and antivitamin K. Tuberculosis has several mechanisms that induce a hypercoagulable state and can lead to thromboembolic complications.

Une douleur dentaire inhabituelle

INTRODUCTION Dental pain is a frequent reason for consulting. It may have non-odontogenic causes such as lesions of vascular, neurologic, muscular, or bone structures. The diagnosis and management of this acute or chronic pain syndrome may be difficult. We report a case of atypical dental pain leading to the diagnosis of a plasmocytic mandibular tumor revealing a multiple myeloma. CASE REPORT A 50-year-old female patient consulted for dental pain during the 3 previous months. Bilateral mandibular swelling was noted during the clinical examination. Radiological examinations revealed a tumoral process associated with osteolytic lesions. The pathological examinations of biopsy samples revealed plasmocytic proliferation. A myelogram and immunoglobulin electrophoresis supported a diagnosis of multiple myeloma with kappa light chains. DISCUSSION Discovering a mandibular tumor with lytic lesions is an indication for an etiological assessment and screening for a blood disease. A mandibular plasmacytoma may be isolated or present as a multiple myeloma, justifying a complete initial assessment. The bone localization of a plasmacytoma is a bad prognostic factor for survival for patients presenting with multiple myeloma.