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Mixed connective tissue disease (MTCD) is a systemic inflammatory disorder individualised by Sharp et al. in 1972. This entity is rare in children.Case report. – We report an exceptional case of MTCD revealed by lymphocytic meningitis in a two-month-and-a-half-old infant. The disease was diagnosed at the age of nine months when clinical symptomatology was completed by common signs of the illness (Raynaud’s phenomenon, swollen hands), systemic lupus erythematosus-like symptoms (lymphadenopathy, squamous erythema of the limbs, hepato-splenomegaly, pleuritis and ascites) and polymyositis-like findings (muscle weakness with increased serum levels of myogenic enzymes). Laboratory investigations showed an important inflammatory syndrome and the presence of speckled anti-nuclear and anti-U1RNP antibodies. Specific antibodies of the other connective tissue diseases were also positive (anti-DNA, anti-Sm, anti-SSA and SSB, anti-Scl 70 and JO1) pleading for the mixed feature of the illness. The follow-up after corticosteroid treatment was marked by clinical and biological improvement. But after five months, the patient died following a severe infectious complication.Conclusion. – Chronic lymphocytic meningitis can be part of Sharp’s syndrome even in infants. However, the diagnosis relies on the evidence of characteristic clinical and biological abnormalities of MTCD. [Copyright &y& Elsevier]

Systemic mastocytosis is rare in children and is characterized by an abnormal proliferation and infiltration of mast cells in different tissues.Case report. – We report a case of systemic mastocytosis presenting cutaneous symptoms during the neonatal period. Later evolution was characterized by systemic manifestations consisting of recurrent respiratory infections with wheezing and a digestive involvement that included abdominal pain, hepatosplenomegaly and a nodular, hemorrhagic infiltrate in a low esophagus. The diagnosis was confirmed by histology and biology, notably increased histamine concentrations in blood and urines. Improvement of the respiratory and digestive symptoms was obtained with treatment by histamine H1 and H2 receptors antagonists.Conclusion. – Respiratory manifestations and nodular infiltration of the digestive tract are rare in systemic mastocytosis. The prognosis is conditioned by complications such as malignancy and the persistence of the disease till the adult age. [Copyright &y& Elsevier]

Abstract: Introduction: Down syndrome is a favourable land to the emergence of auto-immune disease. Case record: Graves'' disease and celiac disease were diagnosed in a 16 years old adolescent with Down syndrome presenting chronic diarrhoea, important delayed development and signs of hyperthyroidism. Discussion: Celiac disease and thyroid dysfunction would be screening in patient with Down syndrome. [Copyright &y& Elsevier]

Observation. – A 10-year-old boy presented cholestatic hepatitis A virus infection confirmed by IGM anti-HAV antibody. Three days after admission, he presented a palpable purpuric rash on the declivous regions, arthralgia and abdominal pain. He met all criteria set by the American College of Rheumatology (ACR) for Henoch Schonlein purpura. The evolution was gradually favorable with no renal involvement (recoil of 3 years and half).Conclusion. – Henoch Schonlein purpura is an exceptional extra-hepatic manifestation of hepatitis A infection. [Copyright &y& Elsevier]

Background: Infective endocarditis is a rare condition in childhood, and there is limited data on this disease in Tunisia., Objective: This study aims to analyze the epidemiological profile, bacteriological data, and prognosis of infective endocarditis in children admitted to the pediatric department of a University Hospital in Tunisia., Methods: We conducted a comparative cross-sectional study in the pediatric department of Sahloul Teaching Hospital in Sousse, a tertiary referral hospital in Tunisia. The study included all children aged ≤ 18 years with infective endocarditis admitted to the tertiary referral center for pediatrics in Sahloul University Hospital from January 1994 to December 2022. The diagnosis of infective endocarditis was based on modified Duke's criteria., Results: Thirty-six patients met the diagnostic criteria for infective endocarditis, resulting in a proportion of 07 cases per 1000 hospital admissions. The mean age was 6 years (range: 40 days to 16 years). Congenital heart disease was identified as the underlying lesion in 23 cases (63.9 %). Blood cultures were positive in 20 patients (55.6 %), predominantly with Staphylococcus species (55 %). The most frequent complications involved the central nervous system (8 cases; 22.2 %). The mortality rate was 25 %, and factors predicting mortality included heart failure on admission or during the hospital stay, increased leukocyte count, and decreased prothrombin time., Conclusion: Our study reveals a shift in the prevalent underlying lesions, with rheumatic heart diseases no longer being the most common. Staphylococcus spp. emerged as the predominant organism in blood cultures. Notably, mortality predictors included heart failure, an elevated leukocyte count, and a decreased prothrombin time rate., Competing Interests: Conflicts of interest: The authors declare that they have no competing interests., (© 2023 Saudi Heart Association.)

Background: Patients with Down syndrome are at a higher risk of developing autoimmune disorders such as thyroiditis, diabetes, and celiac disease compared with the general population. Although some diseases are well known to be associated with Down syndrome, others such as idiopathic pulmonary hemosiderosis and ischemic stroke due to protein C deficiency remain rare., Case Presentation: We report a case of a 2.5-year-old Tunisian girl with Down syndrome and hypothyroiditis admitted with dyspnea, anemia, and hemiplegia. Chest X-ray showed diffuse alveolar infiltrates. Laboratory tests showed severe anemia with hemoglobin of 4.2 g/dl without hemolysis. A diagnosis of idiopathic pulmonary hemosiderosis was confirmed by bronchoalveolar lavage showing numerous hemosiderin-laden macrophages, with a Golde score of 285 confirming the diagnosis of pulmonary hemosiderosis. Concerning hemiplegia, computed tomography showed multiple cerebral hypodensities suggestive of cerebral stroke. The etiology of these lesions was related to protein C deficiency., Conclusion: Idiopathic pulmonary hemosiderosis remains a severe disease, which is rarely associated with Down syndrome. The management of this disease in Down syndrome patients is difficult, especially when associated with an ischemic stroke secondary to protein C deficiency., (© 2023. The Author(s).)

Background: Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological entity most frequently described in young- or middle-aged adults with a rare occurrence among children., Aim: To determine the clinical, radiological features and outcome of PRES in children admitted to a Tunisian tertiary care pediatric department., Methods: we retrospectively reviewed records of all children under 18 years old diagnosed with PRES and admitted to the PICU of the Pediatric department of Sahloul University Hospital from January 2000 to August 2021., Results: Sixteen patients were enrolled in this study. The mean age of the study population at PRES onset was 10 years (range: 4-14 years) and the male female ratio was 3. The most frequent neurological signs were seizures (n = 16 cases), headache (n = 8 cases), and impaired level of consciousness (7 cases). Visual disturbances were found in one patient. Arterial hypertension was the most underlying cause (16 cases). Brain MRI showed vasogenic edema, mostly localized in the parietal (13 cases) and occipital (11 cases) lobes. Moreover, cytotoxic edema (2 cases), pathologic contrast enhancement (1 case), and hemorrhage (3 cases) were isolated on MRI. The outcome after specific management was favorable after the first onset in 13 cases and death occurred in 3 patients. Relapses were observed in 4 patients., Conclusion: Clinical features presented by children with PRES are variable and non-specific. MRI typically shows reversible posterior cerebral edema. However, in some cases, atypical neuro-imaging findings, such as cytotoxic edema infarction, hemorrhage and contrast enhancement can be observed., Competing Interests: Declaration of competing interest None., (© 2023 Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.)

Introduction: Kawasaki syndrome (KS) is a systemic vasculitis of unknown etiology that affects medium and small blood vessels. The aim of our study is to analyze coronary artery lesions in children with KS and their risk factors., Material and Methods: All children under the age of 15 years-old presenting KS and admitted in the pediatric department of three university hospital (Sahloul hospital, and Farhat Hached hospital of Sousse, Ibn El Jazzar hospital of Kairoun) from January 2000 to December 2018 were included., Results: Sixty-five patients were included in our study. The mean age at diagnosis was of 29.9 months [2-120 months] and the sex ratio was of 1.7. Echocardiography was performed in all patients. It showed coronary dilation in 37% of patients with coronary artery diameter of 4.2 mm on average [3.2-7mm]. The coronary aneurysm was small in 19 cases and medium in 5 cases. No giant aneurysm has been identified. In univariate analysis, the predictors of coronary artery lesions were male sex, atypical form, fever duration more than 10 days, hepatic cytolysis, thrombocytosis and anemia. In multivariate analysis, only the last four parameters were the predictive factors of the coronary artery involvement., Conclusion: Several risk factors can be used to determine which children are predisposed to develop coronary dilations. In case of patient with risk factors, intravenous immunoglobulins should be initiated early to avoid these serious complications., (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)

Background: Acute disseminated encephalomyelitis (ADEM) is an inflammatory demyelinating disorder of the central nervous system. Little information is available about the clinical and neuroradiological profile or the follow-up of this disease in Tunisian children., Aim: To determine the clinical, laboratory, and radiological features and the outcome of ADEM in children admitted to the pediatrics department of a university hospital in Tunisia., Methods: All children ≤ 18 years old presenting with ADEM and admitted to the tertiary referral center for pediatrics at Sahloul University Hospital from January 2000 to December 2020 were included in the study. The diagnosis of ADEM was confirmed according to the international pediatric multiple sclerosis study group criteria., Results: A total of 20 patients (13 girls and 7 boys) fulfilled the diagnostic criteria for ADEM. The mean age at diagnosis was 5.6 years. The clinical presentation included polyfocal neurological signs such as cranial hypertension (45%), seizures (35%), and motor weaknesses (55%). Pyramidal tract signs and cranial nerve palsies were noted in 55% of cases. Brain magnetic resonance imaging showed particular features, namely, a relapsing tumor-like form in one case, and optic neuritis and demyelinating lesions of the white matter in the brain and the spinal cord with gadolinium cerebral ring-like enhancement in another case. The treatment consisted of intravenous immunoglobulin in 16 cases (80%) and corticosteroid in 19 cases (95%). Plasmapheresis was used for one patient. Complete recovery was observed in 12 patients (60%); 19 patients (95%) had a monophasic course of the disease while only one patient developed multiphasic ADEM., Conclusions: ADEM remains a difficult diagnosis in children. Nevertheless, after prompt diagnosis and adequate treatment, most children with ADEM have a favorable outcome with restitutio ad integrum., Competing Interests: Declaration of Competing Interest The authors declare that they have no competing interests., (Copyright © 2021 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.)

Objective: To develop a value set for EQ-5D-3L based on the societal preferences of the Tunisian population., Methods: A representative sample of the Tunisian general population was obtained through multistage quota sampling involving age, gender and region. Participants (n = 327), aged above 20 years, were interviewed using the EuroQol Portable Valuation Technology in face-to-face computer-assisted interviews. Participants completed 10 composite time trade-off (cTTO) and 10 discrete choice experiments (DCE) tasks. Utility values for the EQ-5D-3L health states were estimated using regression modeling. The cTTO and DCE data were analyzed using linear and conditional logistic regression modeling, respectively. Multiple hybrid models were computed to analyze the combined data and were compared on goodness of fit measured by the Akaike information criterion (AIC)., Results: A total of 300 participants with complete data that met quality criteria were included. All regression models showed both logical consistency and significance with respect to the parameter estimates. A hybrid model accounting for heteroscedasticity presented the lowest value for the AIC among the hybrid models. Hence, it was used to construct the Tunisian EQ-5D-3L valuation set with a range of predicted values from - 0.796 to 1.0., Conclusion: This study provides utility values for EQ-5D-3L health states for the Tunisian population. This value set will be used in economic evaluations of health technologies and for Tunisian health policy decision-making.

Tfifha M, Gaha M, Gamaoun W, Chemli J, Mabrouk S, Hassayoun S, Zouari N, Jemni H, Abroug S. Clinical and imaging features of malignant infantile osteopetrosis. Turk J Pediatr 2017; 59: 452-457. Human osteopetrosis is a rare genetic disorder caused by osteoclast failure. It encompasses a group of highly heterogeneous forms, ranged widely in severity. Patients with autosomal recessive osteopetrosis are the most severely affected osteopetrotic patients. Here we describe Tunisian children with severe phenotype. They are native from the same geographic region, born to consanguineous parents. Clinical features were cranio-facial dysmorphy, macrocephaly, hepatosplenomegaly, severe anemia and thrombocytopenia with precocious onset of neuronopathic complications, blindness and deafness. Retinal atrophy, reported in a minority of forms is highlighted. Skeletal radiographs revealed generalized increase in bone density and abnormal metaphyseal remodeling, and superimposed rickets resulting from the defect in osteoclasts to provide a normal Ca/P balance. We report an exceptional association with congenital hypothyroidism. Multi-organ failure due to sepsis is one the most severe complications observed. The issue was fatal without hematopoietic stem cell transplantation.

Background: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding liver peroxisomal alanine:glyoxylate aminotransferase (AGT). PH1 is a clinically and genetically heterogeneous disorder. The aim of our study was to analyze and characterize the mutational spectrum of PH1 in Tunisian patients., Materials and Methods: Molecular studies of 146 Tunisian patients suspected with PH were performed by PCR/Restriction fragment length polymorphism (RFLP) to detect seven mutations described as the most common. Direct sequencing for the 11 exons was performed in patients in whom any mutation was not identified., Results: The genetic diagnosis of PH1 was confirmed in 62.3% of patients. The first molecular approach based on PCR/restriction enzyme test was positive in 37.6% of patients, whereas the second molecular approach based on whole gene sequencing was successful in 24% of cases. Twelve pathogenic mutations were detected in our cohort. Two mutations were novel, and five were detected for the first time in Tunisians. The three most frequent mutations were p.Ile244Thr, p.Gly190Arg, and c.33dupC, with a frequency of 43.4%, 21.4%, and 13.1%, respectively., Conclusion: The two novel mutations detected in our study extend the spectrum of known AGXT gene mutations. The screen for the mutations identified in this study can provide a useful, cost-effective, and first-line investigation in Tunisian PH1 patients., (© 2016 John Wiley & Sons Ltd/University College London.)