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Background. Antiphospholipid syndrome (APS), particularly the catastrophic antiphospholipid syndrome (CAPS), is one of the rare causes of thrombotic microangiopathy (TMA). CAPS is the most severe form of APS, especially when accompanied by complement dysregulation, causes progressive microvascular thrombosis and failure in multiple organs. In this report, a case of CAPS with TMA accompanied by a genetic defect in the complement system is presented.Case. A 13-year-old girl was admitted to the hospital with oliguric acute kidney injury, nephrotic range proteinuria, Coombs positive hemolysis, refractory thrombocytopenia, a low serum complement C3 level and anti-nuclear antibody (ANA) positivity. The kidney biopsy was consistent with TMA. She was first diagnosed with primary APS with clinical and pathological findings and double antibody positivity. As initial treatments, plasmapheresis (PE) was performed and eculizumab was also administered following pulse -steroid and intravenous immunoglobulin treatments. Her renal functions recovered and she was followed up with mycophenolate mofetil, hydroxychloroquine, low dose prednisolone and low molecular weight heparin treatments. The patient presented with severe chest pain, vomiting and acute deterioration of renal functions a few months after the diagnosis of TMA. A CAPS attack was considered due to radiological findings consistent with multiple organ thrombosis and intravenous cyclophosphamide (CYC) was given subsequent to PE. After pulse CYC and PE treatments, her renal functions recovered, she is still being followed for stage-3 chronic kidney disease. Complement factor H-related protein I gene deletion was detected in the genetic study.Conclusions. The clinical course of complement mediated CAPS tends to be worse. Complement system dysregulation should be investigated in all CAPS patients, and eculizumab treatment should be kept in mind if detected.

Background Enthesitis is an extra-intestinal manifestation of inflammatory bowel disease (IBD) which often remains underdiagnosed in children. We aimed to evaluate the frequency of enthesitis in pediatric IBD patients using physical examination and ultrasound (US) assessment as the reference standard. Methods 31 children, 7 -18 years of age, diagnosed with IBD were recruited for a cross-sectional study. All subjects completed a study questionnaire and underwent both physical and US examination for the presence of the enthesitis. Results Of 31 subjects (17girls; median age 14(6) years) enrolled, 17 (55%) had ulcerative colitis, 11 (35%) had Crohn`s disease, and 3 (10%) had indeterminate colitis. The median time from IBD diagnosis was 1.2 years. At least one enthesitis (range 1-4) was identified in 14 (45%) patients of whom nine had more than one enthesitis with symmetric involvement in eight. The quadriceps femoris insertion at the superior portion of the patella was the frequently involved site (32%, 9 of 28 sites), followed by patellar ligament insertion at tibial tuberositas. The presence of enthesitis was associated with a higher intensity of the musculoskeletal pain (p=0.018), but physical activity remained unaffected (p=0.056). Conclusions Enthesitis is a common underestimated extra-intestinal manifestation of IBD that may impact the musculoskeletal health of children. Future studies with more extensive cohorts are needed to evaluate enthesial involvement both with physical examination and US in order to predict the long-term outcomes of the enthesitis on children with IBD.

Paç Kısaarslan A, Sözeri B, Baştuğ F, Gündüz Z, Yel S, Nalçacıoğlu H, Şahin N, Özdemir Çiçek S, Poyrazoğlu H, Düşünsel R. Elemental mercury intoxication in 7 patients admitted to a pediatric rheumatology clinic. Turk J Pediatr 2019; 61: 786-790. Mercury (Hg) is a toxic heavy metal that can be classified into three groups; organic (methyl), inorganic (mercuric), and elemental (metallic) mercury(Hg0). Mercury intoxication occurs mostly with the elemental form which can potentially damage the function of any organ, or any subcellular structure. The target organ of mercury is the brain, but peripheral nerve function, renal function, immune function, endocrine and muscle function, and several types of dermatitis have been described. We present 7 patients admitted to a pediatric rheumatology clinic with severe extremity pain. One of the patients had acrodynia, two of them had hypertension, two of them had tubulopathy, and three of them had neuropathy. The treatments were Dimercaptosuccinic acid and metalcaptase. In this report, we emphasize that mercury intoxication should be kept in mind with unexplained extremity pain. Timely diagnosis and treatment may prevent severe morbidity and mortality.

WOS: 000463332100020, PubMed ID: 30968643, Autoinflammatory diseases can cause severe inflammation in bone and skin such as neonatal-onset multisystem inflammatory disease (NOMID), Majeed syndrome, interleukin-36 receptor antagonist deficiency (DITRA) and deficiency of interleukin-1 (IL-1) receptor antagonist (DIRA) syndrome. Here we report a five-year old boy who was admitted to the hospital with pustular skin lesions and fever in the first month of his life. Molecular analysis of IL1RN gene revealed a single homozygous C nucleotide deletion at nucleotide position 396 (p.Thr133Profs*118). The novel p.Thr133Profs*118 mutation found in our study caused frameshift mutation and as a result, the respective protein is most likely non-functional. The patient, who received a variety of treatments for various preliminary diagnoses until the final diagnosis (DIRA), was treated with recombinant IL-1Ra, anakinra, and experienced significant clinical improvement.

Gökay S, Kardaş F, Kendirci M, Sözeri B. Arthropathy-like findings and a carpal tunnel syndrome as the presenting features of Scheie syndrome: Three cases from the same family. Turk J Pediatr 2018; 60: 344-347. Mucopolysaccharidosis (MPS) type I is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α-L-iduronidase. MPS I is divided into three subtypes based on the severity of symptoms: Hurler, Hurler-Scheie, and Scheie syndrome (severe, intermediate, and mild forms, respectively). Musculoskeletal involvement may be the only presenting sign in the patients with Scheie syndrome. We have reviewed three cases with prominent features of carpal tunnel syndrome (CTS) at the onset of their disease. Diagnosis was delayed in almost all cases (range 16-19 years). During one year of follow-up period, alleviations of the pain in the hands of patients were observed after enzyme replacement therapy. MPS type I should be considered in the differential diagnosis of the patients with CTS in the first and second decades of life, particularly with stiffness of the fingers and difficulty using the hands without an inflammatory component. An increased awareness of the disease may contribute to more accurate diagnosis, and patients may benefit from early intervention.

Burkholderia cepacia belongs to a family of Burkholderia species previously described as Pseudomonas cepacia, especially in patients suffering from cystic fibrosis. There are also many studies about this agent in the last decade due to their life-threatening infections and ability to invade mucosal and cellular surfaces. Here, we report a case of soft tissue infection caused by B. cepacia in a child with an underlying condition of polyarteritis nodosa. Her complaints started at two months of age and she was on cyclosporine therapy. She was treated several times because of soft tissue infections especially in her extremities. The most common causative agents were Pseudomonas spp. and Escherichia coli, but recently, another soft tissue infection accompanied by fever and signs of sepsis had developed. All blood, urine and tissue (debrided from the necrotic area) specimens were incubated. Empirical antibiotherapy with clindamycin was started and cyclosporine therapy was discontinued. B. cepacia was grown in the tissue specimen culture and was only susceptible to carbapenems. Meropenem therapy was administered throughout 14 days with a daily dosage of 60 mg/kg, and she was treated successfully at least in this attack of soft tissue infection, which caused more severe sepsis and tissue damage than the previous infections with other agents.