Melkersson-Rosenthal syndrome: About a Tunisian family and review of the literature.

Melkersson-Rosenthal (MRS) syndrome is a rare disorder defined as a triad of recurrent peripheral facial palsy, orofacial edema, and fissured tongue. The etiology of this disease is still unclear. Genetic origin has been postulated. Several theories have been advanced to provide further evidence for a hereditary basis of MRS. We describe a case of 14-year-old girl presented with the classic triad symptoms of MRS. The diagnosis of MRS was made on the basis of history, clinical, histopathological examinations and exclusion of differential diagnosis. The family history showed that some members presented similar symptoms. A chromosome analysis was performed. This observation with familial occurrence of MRS may support the genetic origin theory of MRS. However; present available studies do not provide sufficient evidence to confirm a genetic origin.

[Adult-onset opsoclonus-myoclonus-ataxia syndrome revealing rubella meningoencephalitis]. / Syndrome opsoclonus-myoclonus-ataxie révélant une méningo-encéphalite rubéolique chez un adulte.

INTRODUCTION: Opsoclonus-myoclonus-ataxia (OMS) is a rare clinical syndrome, of paraneoplastic infectious, post-infectious, post-vaccinal or idiopathic origin. CASE REPORT: We report a 24-year-old young man who presented with gait disorder preceded by a febrile rash and retroauricular lymph nodes. Three days before admission, he had headache, vertigo, nausea and vomiting followed by gait unsteadiness and movement disorders of limbs and eyes. On examination, he had OMS syndrome. Brain MRI, total body scan, MIBG scintigraphy, tumor markers and onconeural antibodies were normal. Cerebro-spinal fluid (CSF) analysis showed lymphocytic meningitis. Positive serum and CSF immunoglobulin M antibody against rubella virus was demonstrated. He received acyclovir with full recovery within two weeks. We discuss the peculiarities of this association with a literature review. CONCLUSION: This observation enlarges the spectrum of neurological manifestations of rubella as well as that of OMS etiologies.

[Neurologic manifestations of sarcoidosis: A study of 18 cases]. / Les manifestations neurologiques de la sarcoïdose: étude de 18 cas.

INTRODUCTION: Sarcoidosis is a multisystemic granulomatous disease of unknown aetiology. Neurologic manifestations are found in 5 to 10% of cases. PATIENTS AND METHODS: We conducted a retrospective study over 6-year period including 18 patients diagnosed with neurosarcoidosis in the Neurologic department of the Military Hospital of Instruction of Tunis. Clinical, radiological, therapeutic features and outcome were studied. RESULTS: The mean age was 43.44 years. Neurologic signs were the first symptom in 10 cases. Peripheral nervous system impairment was often found. Meningitis was noted in 8 cases. Biological tests are not contributive for the diagnosis. The brain magnetic resonance imaging was pathologic in 10 cases. Corticosteroids were administrated in the majority of cases. Eight patients did not show any sign of improvement. Ten cases improved with treatment. DISCUSSION AND CONCLUSION: Diagnosis of neurosarcoidosis is difficult because of its clinical and radiological polymorphism. It is based on a clinical history suggestive of neurosarcoidosis, laboratory, imaging and histological studies.

[Implication of platelet-activating factor receptor A224D mutation in susceptibility to relapsing-remitting multiple sclerosis: A Tunisian population study]. / Implication de la mutation A224D du récepteur de facteur activateur des plaquettes dans la susceptibilité à la forme rémittente de la sclérose en plaques : étude d'une population tunisienne.

AIM OF THE STUDY: Platelet-activating factor interacts with its specific receptor and mediates leucocytes transmigration into central nervous system and expression of HLA molecules on antigens-presenting cells. These features are the major characteristics of multiple sclerosis pathology. In the present study, we investigated the role of platelet-activating factor receptor A224 mutation in the susceptibility to relapsing-remitting form of MS in a Tunisian population. PATIENTS AND METHODS: Forty-seven multiple sclerosis patients and 72 healthy controls were genotyped for platelet-activating factor receptor A224D mutation using polymerase chain reaction-restriction fragment length polymorphism technique. RESULTS: We used three models of inheritance: the codominant, dominant and recessive models. Our results showed a predisposing effect of platelet-activating factor receptor 224D variant on susceptibility to relapsing-remitting multiple sclerosis (30% vs 48.1%, OR [IC 95%]=2.04 [1.04-3.99], P=0.023). Our results were also consistent with a dominant model of inheritance when comparing mild genotype (AA) with carriers of one or two copies of mutant allele (AD+DD) (55.7% vs 31.9%, OR [IC 95%]=2.92 [1.34-6.81], P=0.006). No effect of this mutation was shown when considering the age at disease onset, disease severity or gender. CONCLUSION: This first study reports an implication of platelet-activating factor receptor A224D mutation in the susceptibility to relapsing-remitting multiple sclerosis in Tunisian population. Further studies will be necessary to confirm the dominant role of PAFR A224D mutation and to elucidate the effect of this mutation on platelet-activating factor/platelet-activating factor receptor pathways.

[Cerebral venous thrombosis: Prospective etiological study of 26 Tunisian patients]. / La thrombose veineuse cérébrale : étude étiologique prospective de 26 patients tunisiens.

PURPOSE: The aim of the present study is to provide a clinical and etiological analysis of cerebral venous thrombosis (CVT) in the Tunisian population. METHODS: This is a prospective monocentric study including 26 patients referred to the Neurology Department of the Military Hospital of Tunis between January 2005 and January 2008. The diagnosis of CVT was confirmed in all patients by magnetic resonance imaging (MRI) and angiography. The clinical and biological risk factors of cerebral venous thrombosis were analyzed. The average follow-up was 18 months (range six to 30). The outcome was assessed clinically with the modified Rankin scale and with MRI. RESULTS: Mean age was 38.26 years, predominantly females (sex-ratio 4.2). The clinical onset was acute in 88.46% of the cases. Headache was the most common inaugural sign (84.6%). Lateral and superior longitudinal sinuses were the most commonly involved with equal frequency (61.53%). Parenchymal lesions were frequently noted (77%), especially hemorrhagic infarcts (46.15%). The causes of CVT were variable and usually combined (85%). Specifically, thrombophilia and obstetric-gynecological causes were predominant with a prevalence of 61.5 and 42.3%, respectively. Septic causes (38.46%) are also frequent, mainly oral infections (27%). Outcome was favorable in 77% of patients given heparin therapy, followed by oral anticoagulants and antibiotics as needed. CONCLUSION: Our Tunisian population presented distinct clinical features compared with previous studies, including a high frequency of thrombophilia and gyneco-obstetrical disorders as well as infectious causes.

[Cerebral aspergillosis in immunocompetent patients: three case reports]. / Aspergillose cérébrale chez le sujet immunocompétent. A propos de trois cas.

INTRODUCTION: Cerebral aspergillosis is a severe disease most commonly suspected in immunocompromised patients. CASE REPORT: We report herein three cases of cerebral aspergillosis in immunocompetent adults. Sinus involvement was noted in two cases, but there was no extracerebral involvement in the third case. Mycology samples provided the diagnosis in two cases. In the third case, cerebral imaging visualized a tumor; the patient underwent surgery and the pathology exam of the surgical specimen established the diagnosis. All patients were given antifungal treatment and achieved a good outcome. CONCLUSION: Cerebral aspergillosis is highly uncommon in immunocompetent patients. In addition to immunodepression, the notion of pulmonary or ENT involvement may be suggestive. In the brain, aspergillosis mainly involves the basal nuclei and the thalamus.

[Brain tuberculomas: six cases]. / Tuberculomes cérébraux : à propos de six cas.

INTRODUCTION: Despite the resurgence of tuberculosis, partly due to HIV infection, central nervous system involvement remains rare, accounting for only 2 to 5% of all tuberculosis forms. PATIENTS ET METHOD: We report six cases of brain tuberculomas occurring in patients free of HIV infection and hospitalized between 2001 and 2006 in the internal medicine department of a Tunisian military hospital (Tunis). RESULTS: Four patients had an underlying defect. Headache, fever, consciousness disorders, deficit disorder or cerebellar syndrome are the main symptoms. Tuberculomas were multiple and disseminated in four cases and localized in the brain stem in two cases. Positive diagnosis could be established in two cases on the basis of the pathology results of a brain biopsy or detection of Mycobacterium tuberculosis in the cerebrospinal fluid; the diagnosis was presumptive in the other cases. Five patients recovered under antituberculosis treatment maintained on average 13 months (11 to 16 months). Steroid treatment was associated in five patients and tapered off for four to six weeks. One 78-year-old diabetic patient died in a context of cachexia with multiple organ failure.

[Bacterial pollution of the littoral waters of the north of Tunisia (Tabarka and Bizerte regions) and of Lake Bizerte]. / La pollution bactérienne des eaux littorales du nord de la Tunisie (régions de Tabarka et de Bizerte) et du lac de Bizerte.

The inshore areas of Tabarka and Bizerte are not submitted to the bacterian pollution. The "Old Port" of Bizerte is mainly contaminated all the year round and sometimes polluted the neighbouring urban beach. The lagoon of Bizerte presents any bacterian pollution and could be adapted to the conchyliculture and to the stabulation of Bivalves, with before some important precautions.

[Sexual cycle of Cerastoderma glaucum Poiret, 1798 (Bivalvia, Eulamellibranchia, Cardiidae) in Lake Tunis and in the Bou Grara sea (Tunisia)]. / Etude du cycle sexuel de Cercstoderma glaucum Poirêt, 1789 (Bivalvia, Elamellibranchia, cardiidae) dans le lac de Tunis et de la mer de Bou Grara (Tunisie).

The study of the sexual cycle of Cerastoderma glaucum points out the presence of a very short sexual rest period (from january to march) and of three spawning periods (from may to june, august to september, december to january). If autumn is warm (15 degree C), 80 to 90% of the winter stock is formed by mature individuals.

[Mollusks in the Bou Grara Sea (southern, Tunisia): initial biometric data on Cerastoderma glaucum Poirêt, 1789 (Bivalvia, Eulamellibranchia, Cardiae)]. / Contribution à l'étude malacologique de la mer de Bou Grara (Tunisie méridionale): premières données biométriques sur Cerastoderma glaucum Poirêt, 1789 (Bivalvia, Eulamellibranchia, Cardidae).

The statistical study of Cerastoderma glaucum in the little harbour of Bou Grara points out the presence of 21 ribs on the valves, a mean growth of 19,3 mm for the first year of life and a mean longevity of two years; the formation of rest rings is made at summer period. The dynamical study of the population shows its large homeostasy.

[Diet of two selachians common to the Gulf of Gabes (Tunisia): Rhinobatos rhinobatos (Linnè, 1758) and Rhinobatos cemiculus (Geoffroy Sainte-Hilarie, 1817)]. / Etude du régime alimentaire de deux sélaciens communs dans le golfe de Gabès (Tunisie): Rhinobatos rhinobatos (Linné, 1758) et Rhinobatos cemiculus (Geoffroy Saint-Hilaire, 1817).

Rhinobatos rhinobatos and Rh. cemiculus are two digging species with a malacophagic and, accessorly ichthyophagic diet. Rh. rhinobatos' main prey is Hermione hystrix. Rh. cemiculus' one is Citharus macrolepidotus. This study points out that it exists few seasonal changes about the diet of these Selacians.