Plasma Exchange for Lyme Neuroborreliosis delayed diagnosis: A case report.

Lyme neuroborreliosis (LNB) is a rare infectious disease, caused by Borrelia burgdorferi spirochetes and responsible for a variety of neurological manifestations. The most common manifestations of LNB in children are cranial nerve involvement, especially facial nerve palsy often accompanied by lymphocytic meningitis. In this article, we present a case of a 4-year-old boy presented to our emergency department with abdominal pain evolving for a week and symmetrical ascending progression of weakness responsible for severe respiratory failure. Diagnosis of Guillain-Barré syndrome (GBS) was initially suspected. Although our patient had received 2 courses (each of 5 days) of Intravenous immunoglobulin (IVG) treatment, no clinical improvement was observed. The diagnosis of LNB was confirmed by detection of both IgG and IgM specific antibodies in serum. The patient's muscle weakness got better after a 2- week course of Ceftriaxone but respiratory muscle failure didn't improve with two extubation failures. Consequently, we decided to conduct plasmapheresis procedures. We managed to extubate the child and discharge him after a good recovery of his symptoms. Pediatricians must consider LNB disease in the differential diagnosis of GBS, especially when the patient didn't recover after IVG treatment. This case shows that plasmapheresis could be effective for pediatric neuroborreliosis cases with severe neurological disorders.

Clinical, laboratory and evolutionary features of abdominal tuberculosis in comparison with other forms of extrapulmonary tuberculosis.

BACKGROUND/OBJECTIVES: Tuberculosis is a multisystem disease that might affect any organ. Abdominal tuberculosis (ABT) represents 5-17% from all extrapulmonary tuberculosis (EPT) sites. We aimed to study the clinical, laboratory and evolutionary features of ABT cases and to identify predictive factors associated with ABT. METHODS: We conducted a retrospective study including all patients hospitalized in the infectious diseases department for EPT between 1991 and 2019. We studied the characteristics of ABT cases, and we compared them with other EPT cases. RESULTS: We identified 519 patients with EPT, among whom 86 (16.6%) patients had ABT. There were 58 females (67.4%). Peritoneal tuberculosis was the most common clinical form of ABT (68.6%), followed by intestinal tuberculosis (18.6%). Patients aged 60 years and above were significantly less affected with ABT (odds ratio (OR) = 0.2; p = 0.001). The revealing systemic symptoms including fever (OR = 2.04; p = 0.006), weight loss (OR = 2.5; p < 0.001) and anorexia (OR = 1.7; p = 0.021) were significantly more frequent among ABT patients. Inflammatory markers including C-reactive protein levels (37 [10-89] mg/l vs 10 [4-57] mg/l; p < 0.001) and erythrocyte sedimentation rates (43 [15-95] mm/h vs 27 [15-60] mm/h; p = 0.044) were significantly higher among ABT cases. Multivariate logistic regression analysis showed that anorexia (adjusted OR (AOR) = 1.9; p = 0.015) and pulmonary involvement (AOR = 3.3; p = 0.002) were independent predictors of higher rate of ABT. Concomitant involvement of neuro-meningeal (AOR = 0.18; p = 0.001) and osteo-articular (AOR = 0.2; p = 0.01) sites, 40-59 (AOR = 0.2; p < 0.001) and ≥60 (AOR = 0.2; p < 0.001) age groups as well as hemoglobin rate (AOR = 0.7; p < 0.001) were independently associated with lower rate of ABT. CONCLUSIONS: Anorexia and pulmonary involvement were independent predictors of higher rate of ABT. Concomitant involvement of neuro-meningeal and osteo-articular sites, 40-59 and ≥60 age groups and hemoglobin rate were independently associated with lower rate of ABT.

Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome.

BACKGROUND AND AIMS: The Dubin Johnson Syndrome (DJS) occurs mostly in young adults but an early-onset of the disease has been reported in less common forms (Neonatal DJS and Infantile DJS). In this case, the clinical findings are of limit for the DJS diagnosis. Hence, the genetic testing remains the method of choice to provide an accurate diagnosis. In our study, we aimed to perform a genetic analysis for two siblings presented with an intrahepatic cholestasis before the age of 1 year to provide a molecular explanation for the developed phenotype. PATIENTS & METHODS: A Tunisian family, having two siblings, manifesting signs of a hepatopathy, was enrolled in our study. A molecular analysis was performed, using a panel-based next generation sequencing, supplying results that were the subject of computational analysis. Then, a clinical follow-up was carried out to assess the evolution of the disease. RESULTS: The genetic analysis revealed the presence of a novel missense c.4179G > T, (p.M1393I) mutation in ABCC2 gene associated with a substitution c.2789G > A (R930Q) in ATP8B1 gene. Predictive results consolidated the pathogenic effect of both variants. These results confirmed the DJS diagnosis in the studied patients. The clinical course of both patients fit well with the benign nature of DJS. CONCLUSION: We described here a novel ABCC2 mutation associated with a putative ATP8B1 modifier variant. This finding constituted the first report of a complex genotype in DJS. Hence, genetic analysis by a panel-based next generation sequencing permits an accurate diagnosis and the identification of putative variants that could influence the developed phenotype.