Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease derived from biliary dysgenesis secondary to ductal plate malformation; it often coexists with Caroli’s disease, von Meyenburg complexes, autosomal dominant polycystic kidney disease (ADPKD), and autosomal recessive polycystic kidney disease (ARPKD). Although CHF was first named and described in detail by Kerr et al. in 1961. Its pathogenesis still remains unclear. The exact incidence and prevalence are not known, and only a few hundred patients with CHF have been reported in the literature to date. However, with the development of noninvasive diagnostic techniques such as ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI), CHF may now be more frequently detected. Anatomopathological examination of liver biopsy is the gold standard in diagnosis of CHF. Patients with CHF exhibit variable clinical presentations, ranging from no symptoms to severe symptoms such as acute hepatic decompensation and even cirrhosis. The most common presentations in these patients are splenomegaly, esophageal varices, and gastrointestinal bleeding due to portal hypertension. In addition, in younger children, CHF often is accompanied by renal cysts or increased renal echogenicity. Great variability exists among the signs and symptoms of the disease from early childhood to the 5 th or 6 th decade of life, and in most patients the disorder is diagnosed during adolescence or young adulthood. Here, we present two cases of congenital hepatic fibrosis in 2-years-old girl and 12-year-old male who had been referred for evaluation of an abdominal distension with persistent hyper-transaminasemia and cholestasis, the diagnostic was made according to the results of medical imaging (CT or MRI), a liver biopsy, and genetic testing.

No abstract

No abstract

Fahr syndrome is a rare anatomo-clinical entity in pediatrics. Associating calcifications of the basal ganglia with phospho-calcium metabolism disorders, most often resulting in neuropsychiatric symptoms. In our study, the discovery of this syndrome in our two patients was fortuitous thanks to the typical radiological appearance, associated with the clinical picture they initially presented, hence the interest of brain imaging in the diagnosis of this syndrome.

Background:Methotrexate (MTX) is the gold standard treatment for rheumatoid arthritis (RA). The international guidelines recommend optimizing its dose before the introduction of a biologic treatment in cases where it is well tolerated1.Objectives:The objective of this study is to evaluate the dose of MTX before the initiation of biological treatment in RA patients with MTX ineffectiveness.Methods:This is a multicenter, cross-sectional, prospective study including adults RA, over a period of 6 months (January-June 2019). We collected the following data: sex, age, comorbidities (diabetes, hypertension), rate of RF and ACPA, dose of MTX, rate of patients on corticosteroids, Disease Activity Score (DAS 28-vs), Health Assessment Questionnaire (HAQ) and SHARP Score.Results:Number of patients: 239 (187 women / 52 men); average age: 48.3 years (19 - 81); average duration of the disease: 13.6 ± 8.2 years. Comorbidities: arterial hypertension (14,6 %) - diabetes (13 %),The RF were positive in 59.8%. The average value of ACPA is 228.76 ± 287.08 IU / L, positive in 73% case. The average DAS28vs is 4.77 ± 1.46 (0.77 - 12.26). The average modified SHARP 111.67 ± 98.16 (0-448), the average HAQ is 1.13 ± 0.82 (0 - 2.87). 86.7% of patients are under corticosteroids.Only 18.5% of patients had a dose of MTX between 20 and 25 mg / week. the remaining 82% of patients the average dose of MTX was 14 mg / week (10-18.5).Conclusion:These results suggest that the dose of MTX was not optimized before the initiation of biotherapy in the majority of patients with RA.References:[1]Smolen JS, Landewé R, Bijlsma J, et al.EULAR recommendations for the management of rheumatoid arthritis with synthetic and biological disease-modifying antirheumatic drugs: 2016 updateAnnals of the Rheumatic Diseases2017;76:960-977.[3]Claire Daiena, Charlotte Huac, Cécile Gaujoux-Viala, et al. Update of French society for rheumatology recommendations for managing rheumatoid arthritis. Joint Bone Spine 86 (2019) 135–150[2]Singh JA, Saag KG, Bridges SL Jr, et al. 2015 American College of Rheumatology Guideline for the Treatment of Rheumatoid Arthritis. Arthritis Care Res. 2016 Jan;68(1):1-25.Disclosure of Interests:None declared