Introduction Le syndrome néphrotique est une glomérulopathie qui expose à un risque accru de complications thromboemboliques de sévérité variable. Ces dernières représentent une cause importante de morbi-mortalité. Objectif Rapporter les caractéristiques cliniques, biologiques et évolutives des événements thromboemboliques observés chez les enfants suivis pour syndrome néphrotique. Méthodes Étude rétrospective analytique descriptive portant sur 231 cas de syndrome néphrotique suivis au service de néphrologie pédiatrique à l’hôpital mère–enfant Abderrahim Harouchi, Casablanca, Maroc, sur une période de 7 ans (janvier 2018–janvier 2025). Résultats Neuf événements thromboemboliques chez 8 enfants ont été recensés. Tous les patients étaient de sexe masculin, avec un âge médian de 8 ans. Le syndrome néphrotique était primitif chez 5 enfants, corticodépendant dans 3 cas et corticorésistant dans 2 cas. Un enfant avait un syndrome néphrotique congénital et un autre avait un syndrome néphrotique secondaire à une néphropathie de drépanocytose. Sept événements sont survenus lors de la rechute du syndrome néphrotique, et un seul était inaugural. La thrombose veineuse cérébrale était la plus fréquente (4 cas, 50 %), suivie d’une embolie pulmonaire (1 cas) et d’une thrombose veineuse du membre supérieur (1 cas). On note également un cas d’une thrombose des vaisseaux mésentériques. Un traitement par héparine relayée par anticoagulants oraux a permis une guérison chez 62 % des enfants. Un décès a été rapporté. Conclusion Les complications thromboemboliques du syndrome néphrotique de l’enfant sont rares mais sévères. Elles surviennent surtout en cas de rechute avec hypoalbuminémie profonde, justifiant une prévention et une prise en charge précoce.

Kawasaki disease (KD) is a childhood vasculitis with common pediatric ailments features. The KD coronary tropism and delayed diagnosis lead to long-term consequences. A 42-question web-based survey, developed in collaboration with the KD Arab Initiative (Kawarabi), covered pediatricians in charge of KD across major Moroccan cities. Responses from 18/23 (78%) contacts covered 12 universities and 2 public health hospitals, and 4 private practices. Main responders (9 pediatricians, 3 pediatric cardiologists, 2 pediatric and adult cardiologists, and 2 pediatric rheumatologists) follow the European (55.6%), the American (27.8%) guidelines, or local consensus recommendations (16.6%). First-line treatment was intravenous immunoglobulin (88.8%), or corticosteroids (5.5%) or acetyl salicylic acid (5.5%) monotherapy. On a scale from 1 to 10, KD knowledge was rated high (5 to 8) among the medical community, but low (1 to 4) in the general population. There was inequity in access to care and treatment options, varying from almost impossible to excellent. Post-discharge follow-up was carried out by pediatricians (77.7%), with access to pediatric cardiology (61.1%). Anticoagulation was available (88.8%) using anti-vitamin K or low-molecular-weight-heparin. A 10-year expert opinion estimate of KD shock syndrome, giant coronary aneurysms, myocardial ischemia or acute coronary syndrome, and coronary artery bypass grafts, totaled 62, 74, 13, and 9, respectively. KD remains a challenge in Morocco despite dedicated professionals. National seminars and collaborative research initiatives can be optimized with international engagements. Adherence to standardized diagnostic and treatment protocols, making intravenous immunoglobulin availability a national priority requires partnership with government agencies and healthcare officials.

Kawasaki disease (KD) carries a favorable prognosis with timely diagnosis and treatment, yet fatal events still occur. Data on KD-related mortality in Arab countries and how patterns may have shifted since COVID-19 are unreported. We aimed to describe clinician-recalled KD-related deaths in Arab countries before and after the COVID-19 pandemic and to characterize the timing and reasons of death. The survey invited participation from all clinicians within the collaborating centers, allowing inclusion of respondents both with and without experience managing KD-related fatalities. The Kawasaki disease Arab initiative (KAWARABI) conducted a cross-sectional descriptive survey to assess the extent and circumstances of KD-related mortality across Arab countries. The survey was distributed to KAWARABI institutions and covered the period from 1990 to 2024. Seventeen clinicians from eight Arab countries completed the survey. One-third reported KD-related deaths before the pandemic and more than half did afterwards. Across both pre- and post-COVID periods, reported deaths most commonly occurred during acute disease hospitalization or within the first three months following initial KD diagnosis. Reported patterns of death reflected distinct clinical contexts in both periods. Year-by-year responses suggested a peak in (2020–2021) with a regressive trend from 2022. Most respondents indicated that autopsy is performed only when legally mandated. KD related mortality in Arab countries is rare but appeared higher during the COVID-19 pandemic. This increase may reflect diagnostic overlap between KD and MIS-C, as well as limited availability of advanced cardiac life support therapies in some Arab countries. Strengthening regional collaboration, developing prospective registries, and enhancing knowledge-sharing may help improve KD care pathways.

Objective: Kawasaki disease (KD) is one of the most common systemic vasculitides and a cause of acquired heart disease in children. The aim was to provide an epidemiological picture of KD with an emphasis on cardiac involvement in Morocco. Materials and Methods: This is a cross-sectional observational study recruiting patients with KD between January 2019 and December 2023. Diagnosis was based on 2017 American Heart Association criteria under the supervision of an expert. Statistical analysis was carried out using the chi-square, Mann-Whitney U, and Fisher's exact tests. Results: Sixty-nine patients were admitted; the mean age was 36 months, the sex ratio was 1.6 (male:female), and the mean days to the first consultation was 10.1. Thirty-nine cases met the criteria for complete forms and 30 for incomplete forms. Coronary dilatations and aneurysms were found in 20 and 7 patients respectively, including 3 giant aneurysms. All patients were treated with intravenous immunoglobulin (IVIG) except 1 and acetylsalicylic acid (ASA), and 23.1% received corticosteroids. Fourteen patients (20.3%) were resistant and 4.3% could benefit from a rescue treatment including second IVIG, Anakinra, and corticosteroids. Six predictive factors of coronary involvement were analyzed and were significant for age ≤ 12 months and ≥ 60 months and delay in IVIG infusion of more than 10 days (P= .045/P = .017). Conclusion: This study demonstrates the importance of raising awareness of KD among primary care physicians, given that a significant proportion of patients were referred from day 10 of fever onward, and paying more attention to extreme ages where coronary involvement is more common.

Background:Familial Mediterranean fever (FMF) is an autosomal recessive disease caused by mutations in the MEFV gene and is characterized by recurrent febrile episodes of abdominal pain, chest pain, and joint involvement. We aim to study the clinical and genetic features of FMF in Moroccan children and to establish a phenotype-genotype correlation in this group of patients. Methods:A total of 35 patients were included in this study. Genetic analysis of exon 10 of the MEFV gene was performed in 33 patients. To establish a phenotype-genotype correlation, we statistically compared clinical features between patients with and without the M694V mutation. Results:Abdominal pain was observed in 82.9% of our patients, followed by fever (74.3%), arthralgia (85.7%), arthritis (42.8%), chest pain (34.3%), and IgA vasculitis (20%). Genetic analysis showed a predominance of the M694V mutation (62.5%), followed by A744S (11.4%) and K695R (5.7%). The presence of the M694V genotype was found to be significantly associated with a high frequency of arthralgia and arthritis. A significant association was found with an earlier age of onset in the absence of the M694V mutation. Conclusion:Joint involvement is more common in the M694V genotype, and the genetic profile shows different results compared to neighboring countries.

Kawasaki disease (KD), the leading cause of acquired heart disease in children in developed countries, merits conducting detailed studies in Arab countries. We introduce Kawarabi, as a multicenter research collaborative effort dedicated to improving diagnosis, care, and outcome of children and adults with KD in the Arab world. During the COVID-19 pandemic, there emerged a new multisystem inflammatory syndrome in children; a disease similar to KD. This highlighted the challenges that Arab physicians face in diagnosing and managing children with KD and KD-like illnesses. Kawarabi brings together experts in North America and Arab nations to study this family of diseases in a not-for-profit, voluntary scientific collaborative setting. Bylaws addressing the vision, objectives, structure, and governance of Kawarabi were established, and vetted by the 45 organizing members in 2021. An initial scientific publication showed evidence of a decreased level of awareness of the disease in the general population, as well as the lack of access to resources available for physicians caring for children with KD in Arab countries. Kawarabi has since held several educational webinars and an inaugural yearly meeting. The groundwork for future initiatives targeted at increasing awareness and understanding of the management and the long-term outcomes of children with KD in the region was established. Data on KD in the Arab world are lacking. Kawarabi is a multicenter research collaborative organization that has the unique resources, diversified ethnic makeup, and energy, to accomplish significant advances in our understanding and management of KD and its variants.

Recurrent erythema scarlatiniforme desquamativum recidivans (ESDR), also known as Féréol-Besnier disease, is a rare condition marked by a recurrent erythematous rash that is followed by extensive desquamation, primarily affecting the palms and soles. It is often preceded by prodromal symptoms such as malaise, headache, myalgias, digestive issues, and fever. The exact pathogenesis remains unknown, and diagnosis can be challenging due to its resemblance to various infectious, auto-inflammatory, or allergic conditions, leading to diagnostic variability. Given that most reported cases are over 50 years old, our objective is to highlight this rare and enigmatic pathology through a typical case of the generalized variant of ESDR in a 13-year-old girl. We aim to increase physician awareness of this condition and provide reassurance to both parents and their child regarding its benign nature.

To evaluate giant aneurysms (GiAn) prevalence in Arab countries and examine contributing factors; and to review Kawasaki disease (KD) publication trends and collaborations among Arab nations. A scoping literature review was conducted to analyze the publications across the Arab world, spanning 16 countries from 1978 to 2023. The collected articles were a combination of database search with a call on Kawasaki Disease Arab Initiative (Kawarabi) members to share non-PubMed publications. Over 45 years, 50 articles originated from the Arab Countries with a 30

Background Systemic juvenile idiopathic arthritis (systemic JIA) is a severe disease with both systemic and joint inflammation. This study aims to identify predictors of disease evolution within the systemic JIA population enrolled in the Juvenile Inflammatory Rheumatism cohort (JIRcohort). Methods Observational patient cohort study with 201 recruited children from 4 countries (3 European, 1 North Africa) from 2005 until 2019, using retrospectively (2005–2015) and prospectively (2015–2019) routine care collected data. Results Sixty-five patients with complete follow-up data for 24 months after first diagnosis were classified as monophasic ( n = 23), polyphasic ( n = 6) or persistent group ( n = 36) corresponding to their evolution (unique flare, recurrent flares, or persistent disease activity respectively). The patients of the persistent group were more likely to have an earlier disease onset, before the age of 6 (OR 2.57, 95%-CI 0.70–9.46), persistence of arthritis at 12-months post-diagnosis (OR 4.45, 95%-CI 0.58–34.20) and higher use of synthetic DMARD (sDMARD, OR 5.28, 95%-CI 1.39–20.01). Other variables like global assessment by physician and by patient and C Reactive Protein levels at 12-months post-diagnosis were assessed but without any predictive value after adjusting for confounding factors. Conclusions Our results suggest that the earlier disease onset, the persistence of arthritis throughout the first year of disease evolution and the need of sDMARD might predict a persistent disease course.

Abstract Background Since the 90’s, biologics, as a novel class of drugs, have revolutionized the therapeutic field of autoimmune and inflammatory diseases in children by providing effective treatment options. Biologics aim to modify targeted pathways to interfere with the immunologic aberration creating the clinical disease, However, alteration of the pathways increase the risk of infection. We report a series of severe infectious adverse events (SIAE) in children treated with biologics. Objectives and Methods This is a retrospective study over a period of 10 years (January 2012-October 2022) conducted in the Department of Pediatric Rheumatology and internal Medicine, A. Harouchi Mother and Child Hospital CHU Ibn Rochd, Casablanca, Morocco. The aim of our study is to assess SIAE in children treated with Results The study included 76 patients on biologics with different diseases dominated by systemic juvenile idiopathic arthritis. Six patients developed SIAE, sex-ratio was 1, four patients received TNF-alpha inhibitors (Infliximab, Adalimumab, Etanercept), 1 on Tocilizumab and 1 on Rituximab. Our 6 patients were on other immunosuppressive agents simultaneously (Corticosteroids, MMF, Azathioprine, Methotrexate). The delay of occurrence of SIAE after the initiation of biologics ranged from 10 days to 7 years. We report 3 cases of Tuberculosis, 2 of which were treated with anti-TNF agents, 1 case of CMV hepatitis, 1 case of Herpes zoster and 1 case of orbital cellulites. Treatment consisted of temporary discontinuation of biologic with specific management of the SIAE by an appropriate anti-infectious agent. The evolution was favorable except one case of death. Discussion and Conclusion Biologics have become an important component of effective management of patients with autoimmune and inflammatory diseases. However, there is an increased risk of SIAE for those patients, especially the risks of Tuberculosis and viral infections, even though systematic screening is performed prior to the start of biotherapy, requiring physician vigilance.

Mevalonate kinase deficiency (MKD) is a rare hereditary autoinflammatory disease, with a widely variable clinical spectrum. It is characterized by febrile recurrent episodes and systemic inflammation. Data on therapeutic options for MKD are still limited and remain unknown in our country. We report Moroccan cases with MKD referred in our unit and treated with Anakinra, an interleukin-1 receptor antagonist. Through this study, we evaluate the efficacy of this bioagent, in our 2 MKD patients, in whom Anakinra has shown a complete clinical remission, with a remaining mild inflammation for one case, and normalization of growth with rare episodes of cervical adenopathies for the second case. Our experience provides an additional argument supporting the efficacy of Anakinra treatment, demonstrated previously but still lacks of objective data.

Abstract Introduction Macrophage activation syndrome (MAS) is a serious clinical condition due to inappropriate stimulation of macrophages. It can be primary or secondary to underlying neoplastic, infectious or autoimmune diseases. Some pediatric inflammatory diseases are highly complicated by MAS with a higher incidence in systemic juvenile idiopathic arthritis (SJIA) or systemic lupus erythematosus (SLE). Objective We aim to highlight the features of MAS occurring in the context of pediatric inflammatory diseases according to our epidemiology and local conditions. Materials and methods This is a retrospective, descriptive and analytical study seen over a period of 4 years (from January 2019 to December 2022). The diagnosis of MAS was confirmed according to Ravelli criteria published in 2016 in the presence of mandatory persistent fever and at least four of the following abnormalities: hyperferritinemia> 684 ng/ml, platelet count < 181x103/mm3, liver cytolysis aspartate amino transferase (AST) > 48UI/l, triglyceridemia > 1.56 g/l, fibrinogenemia < 3.6 g/l, after having ruling out infections. The presence of hemophagocytes in the bone marrow aspiration was considered sufficient for the diagnosis in presence of long lasting fever. Results Among 70 patients followed for inflammatory disease, 12 presented with MAS. The age of the patients ranged from 8 months to 17 years during the MAS episode, with a mean age of 8 years 9 months and male: female ratio was 1.4 (7 boys/5 girls). All patients had fever and altered general condition, two had associated hemorrhagic syndrome. On clinical examination, 3 patients had splenomegaly, 3 had hepatomegaly, 2 of which combined splenomegaly and hepatomegaly. Adenopathies were reported in 3 patients. No patient had jaundice or neurological signs. Biological parameters revealed a platelet count< 181 000/mm3 in 58.3% (7 cases), an AST level > 48IU/l in 91,6% (11 cases), hypertriglyceridemia > 156mg/l in 69.2% (9 cases), hypofibrinogenemia < 360 mg/dl in 66.6% (8 cases), and hyperferritinemia >684 ng/ml in 91,6% (11 cases). Eight had bone marrow aspiration, which was inflammatory in 37.5%, normal in 37.5% and hemophagocytosis in 25%. In our series, MAS preceeded the diagnosis of paediatric inflammatory disease in 9 patients, and complicating the evolution of an inflammatory disease in 3 patients. The main aetiology was SLE in 58.3% (7 cases). Other causes were reported such as SJIA in 1, NLRC 4 deficiency without genetic confirmation in 1, PIMS in 1, primary immune deficiency with hypogammaglobulinemia and sarcoidosis like picture in 1 and one case of primary MAS. Recurrence was noted in 3 patients, including 1 SLE, 1 primary MAS and the NLRC 4 deficiency. All patients received bolus intravenous corticosteroids, followed by oral corticosteroids which was weaned off over a period of four months if no disease progression. Ciclosporin A was added to corticosteroids in 4 (33,3%). Biotherapy was administered to 2 patients, the first with NLRC4 deficiency, who received Tocilizumab and infliximab before responding favorably to anakinra 10 mg/kg/d. The second for a PIMS complicated by severe MAS, who received Tocilizumab once without any improvement before switching to anakinra 2 mg/kg/day for 4 months with complete remission. Conclusion and Discussion MAS is a severe syndrome, characterized by non-specific clinical and biological signs, making the diagnosis very difficult. Recently, clinical and biological criteria have been proposed according to the disease, however, the most discriminating biological parameter is hyperferritinemia. This condition must be detected and treated without delay to avoid death. Our series is characterized by the predominance of SLE as the major aetiology of MAS, by its inaugural presentation worsening the prognosis of the underlying inflammatory disease probably related to a delay in consultation, by the low percentage of hemophagocytes in bone marrow aspiration, which could be explained by a lack of knowledge on the part of our cytologists and by a low use of biotherapies.

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 and molecular features (when available) and outcomes of Moroccan patients with AIDs. Methods:Patient data were collected retrospectively and analysed over a 13-year period. Results:Among 30 patients, 60% had FMF, 16% 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. IgA vasculitis was associated with 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 was M694V (66%). All FMF patients were treated with colchicine. Most MKD patients were confirmed by elevated urinary mevalonic acid levels, and four of five MKD patients received targeted therapy. Chronic recurrent osteomyelitis patients were confirmed by radiological and histological analysis. Two cases of Marshall syndrome were diagnosed according to validated criteria. A case of familial pustular psoriasis was diagnosed based on histological analysis and a patient with Muckle-Wells syndrome by clinical features. The outcome was favourable in 76%, partial in 13%, and three deaths were reported. Conclusion:FMF and MKD are the most reported diseases. AIDs are probably underestimated because they are unknown to clinicians. The aim of this work is to raise awareness among paediatricians about AIDs and create a network for best practice.

Kawasaki Disease (KD) is still the most common acquired heart disease in children below the age of five years; it has been well described in the developed world; however, data from the Arab world are limited to case reports or single-center case series. In an effort of optimizing KD research in the Arab world, a group of physicians and researchers established the KD Arab Initiative (Kawarabi) in 2021, and published the first survey, which showed disparities in the availability of intravenous immunoglobulin (IVIG); this had prompted Kawarabi to assess the access to care and therapy of KD patients in Arab countries. A 32 structured questions survey was conducted in thirteen Arab countries and addressed KD patients’ access to healthcare in urban and rural settings. The survey results showed that access to care was uniform across large, mid-size cities and rural areas in 7/13 (54%) countries, while in 6/13 (46%) countries, it was in favor of large and mid-size cities over rural areas. The quality of medical services received by children with KD in large cities was rated as excellent in 6/13 or good in 7/13 countries compared to fair in 4/13 or poor in 4/13 countries in rural areas. Availability of IVIG was limited (23%) in mid-size cities and almost impossible (23%) in rural areas. The KD patients in mid-size cities and rural areas have limited access to standard healthcare in the Arab world. This survey laid the foundation for future Kawarabi endeavors to improve the care of children with KD.

Abstract Introduction Neurolupus is one of the two key prognostic parameters of lupus. Its manifestation can be central or peripheral, revealing the disease or occurring during the course of evolution. It’s important to not consider all neurological manifestations during SLE as related to lupus, ruling out Central nervous system (CNS) infection and anti-phospholipid syndrome (APS) is primordial. Objectives To share 3 rare observations of neurolupus with intracranial hypertension syndrome and discuss their therapeutic modalities. To highlight the lack of evidence in the treatment of such cases. Method A retrospective analysis of data from medical records. Results We report three observations of Intracranial hypertension syndrome involving three girls, ranging from 9 to 14 years. Clinical symptomatology was dominated by headache, vomiting and visual disturbances. Examination found papillary oedema stage 3 in all the three patients, convergent strabismus in two patients and elevated intracranial pressure measurement in all the three girls ranged from 95 mm to 57 mm of H2O. Brain MRI performed in all three-patients was normal. Data from laboratory tests showed, thrombocytopenia in one patient, pancytopenia in one patient, positive antinuclear antibodies in all patients, positive anti-DNA antibody in one patient, C3, C4 consumption in two patients, positive proteinuria in two patients and positive anti phospholipid antibodies in one patient. All patients had active SLE at the time of admission with a Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) at least at 17. Symptomatic treatment with carbonic anhydrase inhibitor was initiated, followed by methylprednisolone pulse therapy then oral corticosteroids and hydroxychloroquine in all the three patients. Immunosuppressive therapy with Rituximab 1 g at two-week intervals was administrated in two patients, the third one did not receive any suppressive treatment in addition to corticosteroids due to the favorable outcome. The course was favorable in all patients with regression of clinical symptoms of intracranial hypertension and papillary oedema immediately after cerebro spinal fluid (CSF) subtraction. Discussion and Conclusion Neurolupus presents with heterogeneous symptoms that make its diagnosis difficult. Intracranial hypertension syndrome is a rare manifestation resulting from a disorder of CSF resorption, its pathogenesis is poorly understood with an inflammatory hypothesis based on immune deposits. There are no therapeutic recommendations to date. This isolated syndrome without other neurological signs of severity responds very well to symptomatic treatment with carbonic anhydrase inhibitors and to CSF withdrawal, as was the case in our patients. The use of immunosuppressive therapy (rituximab in our patients) was indicated due to the severity of the clinical picture with severe renal involvement. In addition, other immunosuppressive drugs can be an alternative option therapy. Ethics The study was performed according to the principles of the Declaration of Helsinki.

OBJECTIVES:Hip involvement remains a predictor of severe juvenile idiopathic arthritis (JIA) course and carries a high risk of disability. This study aims to determine the factors of poor prognosis of hip involvement in patients with JIA and to assess the treatment response.METHODS:This is a multicenter observational cohort study. Patients were selected from the JIR Cohort database. Hip involvement was defined as clinically suspected and confirmed by an imaging tool. Follow-up data were collected during 5 years.RESULTS:Among the 2223 patients with JIA, 341(15%) patients had hip arthritis. Male gender, enthesitis-related arthritis, and North African origin were factors associated with hip arthritis. Hip inflammation was associated with disease activity parameters during the first year, particularly Physician Global Assessment, joint count, and inflammatory marks. Structural hip progression was associated with early onset of the disease, a longer time to diagnosis, geographic origin, and JIA subtypes. Anti-TNF therapy was found to be the only treatment able to effectively reduce structural damage progression.CONCLUSION:The early onset diagnostic delay, origin, and systemic subtype of JIA predict a poor prognosis of hip arthritis in children with JIA. The use of anti-TNF was associated with a better structural prognosis.

Abstract Introduction Farber disease is a rare autosomal recessive lysosomal storage disorder. It is caused by a mutation in the ASAH1 gene, which results in a deficiency of acid ceramidase and subsequently an accumulation of ceramide in various tissues. The manifestations are diverse and the cardinal symptoms of the Farber disease triad include subcutaneous nodules, joint pain and hoarseness. Aims To recall the clinical features of this rare disease in order to avoid a late diagnosis and to inform about the identification of a novel mutation in a Moroccan patient known until now as a mutation of uncertain significance in the acid ceramidase gene. Method About a clinical case reported retrospectively with a prospective follow-up. Results We report the case of a fourteen-year-old boy born from healthy, consanguineous Moroccan parents after an uneventful pregnancy and delivery. He had normal development until the age of 9 months. The first symptoms appeared at the end of the first year of life with joint stiffness, hoarseness, subcutaneous nodules, blepharitis resulting in amblyopia, dental enamel defect, gingival hyperplasia, and severe failure to thrive, without any visceral manifestations. Routine laboratory investigations revealed normal hydroelectolytic, glycemic, hepatic, renal, and thyroid status. Standard radiography revealed diffuse bone demineralization, laryngoscopy showed laryngeal dyskinesia, echocardiography and abdominal ultrasound were normal. Biopsy of a nodule revealed hyalinosis deposition leading initially to the hypothesis of systemic hyalinosis. The diagnosis of Farber disease was suspected at the age of eight and definitively confirmed at the age of fourteen after a genetic study of ASAH1 revealing a novel compound homozygous mutation in exon 3 c.194T>G (p.Leu65Trp) whose significance was considered uncertain to date with an acid ceramidase enzyme assay that showed a markedly reduced leucocyte acid ceramidase activity, consistent with a homozygous status for acid ceramidase deficiency. Treatment with analgesics based on paracetamol and nonsteroidal anti-inflammatory drugs, with iron, calcium and vitamin D supplements was prescribed. Physiotherapy was recommended but was very difficult as the child is so painful. Discussion and Conclusion Farber disease is a rare condition with only about 200 cases identified worldwide. It is caused by mutations in the ASAH1 gene. The disease has a wide range of clinical presentations, and this case report highlights the challenge of diagnosis, with a long delay due to lack of awareness of the disease among clinicians. Furthermore, this case describes a novel homozygous mutation in the ASAH1 gene: c.194T>G (p.Leu65Trp) of the ASAH1 gene in a Moroccan patient, expanding the phenotypic spectrum of the disease. Genetic testing should be considered in patients with a clinical presentation consistent with the disease, supplemented by an acid ceramidase enzyme assay in case of doubt as was done in our patient. To date, there is no cure for Farber disease, and treatment is symptomatic and supportive. However, early diagnosis and appropriate management can help improve the quality of life for patients and their families. This case highlights the importance of further research in order to develop more effective treatments for this rare condition. Clinical trials are planned in the close future. Ethics The patient and his family members provided informed consent for publication of indirectly identifiable data.

Abstract Background Behçet's disease is a multisystem vasculitis whose pathogenesis remains unclear. Although usually described in young adults, it may begin in childhood. The diagnosis is clinical, based on international criteria. The limitations of early diagnosis are related to the progressive onset of symptoms and the variety of differential diagnoses at this age in the absence of a pathognomonic diagnostic test. Objectives To report the epidemiological features of our series and to compare the 2015 pediatric criteria with the 2014 and 1990 international criteria. Materials and Methods This is a monocentric, retrospective study of 31 children over an 11-year period from January 2011 to December 2021. All patients suspected with Behcet's disease by a pediatric rheumatologist were included in the study, the 2014 international criteria “ISG 2014” being the gold standard classification criteria used in our center. Results 31 cases of Behcet's were collected. The mean age was 10 years (5.5–16) ± 2.87 years. A female predominance is noted with a sex ratio F/M of 1.21. A quarter of the patients were from a consanguineous marriage and 38.7% had a family history of Behcet disease. Mucocutaneous manifestations were represented by recurrent oral aphthosis 87.1%, genital aphthosis 29%, pseudofolliculitis 48.4%, erythema nodosum 6.5% and acne lesions 3.2%. The pathergy test was positive in 1 case. Ocular involvement was reported in 29% and joint involvement in 45.2%. Thromboembolic complication was seen in 9.6% and neurobehcet in one patient. The HLA B51 antigen was present in 45.2% of cases. In our series 38.7% respond the pediatric criteria, while 61.3% met the 2014 international criteria and 35.5% met the 1990 international criteria. The 2015 pediatric criteria have respectively a sensitivity and specificity of 63.2% and 100% (p = 0.002) compared with the 2014 international criteria taken as gold standard, as well as the 1990 international criteria with a respective sensitivity and specificity of 52.6% and 91.7% (p = 0.034). Conclusion Our study highlights a female predominance, a high rate of consanguinity and familial Behcet. The sensitivity and specificity of the 1990 pediatric and international criteria appear to be better than those of 2014, with a more significant trend for the 2015 pediatric criteria (p = 0.002).

Abstract Background Kawasaki disease (kDa) is a multisystemic vasculitis affecting medium and small vessels with a predilection for the coronary arteries. It appears to be very similar to the pediatric multisystemic inflammatory syndrome (PIMS), which is a post-infectious inflammatory condition occurring after SARS-COV2 infection. Although these two entities have clinical and biological similarities, marked differences are identified. The aim of this study is to compare the two conditions in order to highlight the specific criteria of each of these related entities and to describe their demographic, clinical, biological and therapeutic characteristics in our context. Method Single center prospective observational study from January 2021 to March 2022 was conducted, comparing children admitted for PIMS on the basis of persistent fever, inflammatory syndrome, and positive COVID-19 IgG serology to patients hospitalized for kDa according to American Heart Association criteria. Results 42 cases were recruited, among them 24 PIMS and 18 kDa, with a male predominance. The average age was 5 years for PIMS and 2 years and 7 months for kDa. All had a persistant fever with an average duration of 8 days as reason for consultation. Conjunctivitis was found in 88% of kDa vs 75% of PIMS and cheilitis in 94% of kDa vs 75% of PIMS. Skin rash, extremity involvement, cervical adenopathy were reported in both pathologies with respective percentages of 62.5%, 17.4% and 25% for PIMS vs 61.1%, 33.3% and 33.3% for kDa. Abdominal pain was reported in 54.2% of PIMS patients vs 5.6% of kDa. All patients had an inflammatory syndrome. The mean sedimentation rate was 67 mm at the first h in PIMS and 99 mm at the first h in kDa. The mean CRP was 147 mg/l in PIMS vs 132 mg/l in kDa. Lymphopenia was predominant in PIMS with 33% vs 11% in kDa. Cardiac enzymes were higher in PIMS with 29% of myocarditis and 15% of coronary dilatation vs 16.7% of coronary involvement in kDa. All PIMS patients received immunoglobulin infusion IV-IG, corticosteroid therapy, and an antiplatelet agent, whereas patients with kDa received IV-IG and acetyl salicylic acid in anti-inflammatory doses. Apyrexia was obtained at day 1 of treatment in the majority of patients, whereas 5.6% of kDa had persistent aneurysm. Conclusion PIMS cases predominated over kDa cases during this pandemic period. The distinction between the two entities could be difficult given the clinico-biological similarities. Abdominal pain was significantly more frequent in PIMS patients, whereas lymphopenia and myocarditis were not. The prognosis was better in PIMS.