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Objective Auto-inflammatory diseases (AIDs) result from mutations in genes of the innate immune system leading to periodic multisystemic inflammation. We aimed to describe the clinical, biological, molecular features when available and outcomes of Moroccan patients with AIDs. Methods Patient data were retrospectively collected and analyzed over a 13-year period. Results Among 30 Patients, 60% had familial Mediterranean fever (FMF), 16% had mevalonate kinase deficiency (MKD) and 24% other AIDs. The mean age at first consultation was 6.9 years and the mean diagnostic delay was 3 years. Consanguinity was reported in 16 cases. Immunoglobulin A vasculitis was associated in 33% of FMF patients in whom the main clinical features were fever 88.8%, abdominal pain 100%, arthralgias 88.8% and arthritis 50%, and the most frequent mutation M694V 66%. All FMF patients were treated with colchicine. Most MKD patients were confirmed by elevated urinary mevalonic acid levels and 4/5 MKD received targeted therapy. Chronic recurrent osteomyelitis (CRMO) patients were confirmed by radiological and histological analysis. Two cases of Marshall syndrome were diagnosed according to validated criteria. The Familial pustular psoriasis (FPP) case was diagnosed based on histological analysis and the Muckle Wells Syndrome patient by clinical features. The outcome was favorable in 76%, partial in 13% and 3 deaths were reported. Conclusion FMF and MKD are the most reported diseases. AIDs are probably underestimated as they are unknown to clinicians. The aim of this work is to raise awareness among pediatricians about AIDs and create a network for best practices. Lay summary What does this mean for patients ? Autoinflammatory diseases (AIDs) are rare disorders caused by mutations in the genes of the immune system. We retrospectively analyzed data from Moroccan patients with AIDs in a pediatric rheumatology unit. We found a high rate of the M694V genetic mutation in these patients due to marriage between blood relatives, which is common in Moroccan culture. Patients from such marriages are likely to have inherited genetic diseases like Familial Mediterranean Fever (FMF), followed by mevalonate kinase deficiency (MKD) in our cohort. This study represents the first experience of AIDs in Morocco. Diagnosis of AIDs is based primarily on clinical and biological signs as genetic tests are not widely available. This study aims to raise awareness of AIDs among pediatricians and help promote better disease management. This will enable an earlier diagnosis and help to improve the prognosis of the patient.

Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental disorder. The ADI-R and ADOS can be used to confirm ASD. These tools have not been tested in a non-sighted population. Through our clinical case, we highlight the clinical and therapeutic complexity of visually impaired children with ASD. Case report: A., 4 years and 7 months old, was admitted to the department for a diagnostic evaluation of a communication and language disorder concomitant with congenital blindness. At birth, bilateral anophthalmia was diagnosed. The complete pediatric evaluation was normal. After profound clinical observation, the diagnosis of ASD in comorbidity with congenital blindness was retained. The management was multidisciplinary. Discussion: ASD is the most clinically noted and scientifically studied disorder in visually impaired children. Specialists find difficulties in differentiating between the original developmental symptoms of visually impaired children and the symptoms relevant to ASD. Diagnostic investigation has been based on clinical observation. Several authors have demonstrated that careful observation can differentiate social interaction disorders caused by blindness from those of ASD. The treatment of children with ASD is essentially based on visual access to information, not adapted to ASD children with blindness. Conclusion: Blindness associated with ASD is a dual handicap. Validation of diagnostic instruments for ASD, developing appropriate therapeutic interventions for these patients are crucial.

Background: Large synovial cysts are rare in juvenile idiopathic arthritis ( JIA). They are usually located in popliteal area. Bicipital cyst is uncommon and has been described in systemic onset of JIA during an inflammatory attack. We describe the presentation and clinical course of bicipital synovial cyst occurring in patient with polyarticular subtype of JIA. In our knowledge, it's the first case reported.Case presentation: Our patient had an active disease with high level of biological inflammation. After ruling out the infectious origin of the cyst, the diagnosis was confirmed by ultrasonography revealing a liquid nature of the formation and magnetic resonance imaging showing the continuity between the shoulder's joint effusion and the cyst. A complete resolution was obtained 4 weeks after control inflammation using high dose of anti inflammatory drugs (prednisone 1mg/kg/d, indomethacin 3 mg/kg/d). Conclusion:Bicipital cyst is an unusual condition of JIA, extremely rare in polyarticular form. His etiology remains poorly understood. Our Patient had a high level of biological inflammation as in systemic subtype. The diagnosis is confirmed by ultrasonography. Magnetic resonance imaging may be helpful in case of doubt. The treatment is no specific and based on the control of the disease activity. Even though bicipital cyst is rare manifestation of JIA, it should be considered as a complication of active disease related to inflammatory phenomena.