Ayşenur Paç Kısaarslan

Development and validation of juvenile autoinflammatory disease multidimensional assessment report (JAIMAR).

There are lots of effects of auto-inflammatory diseases (e.g. pain, fatigue, fear of attack, lifelong drug use, being nervous and angry, problems at school) and those are quite important to patients but have not been measured with the outcome instruments currently included in clinical trials of auto-inflammatory diseases.

The diagnosis of juvenile systemic lupus erythematosus with SLICC

Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease that can involve any organ system, and may lead to significant morbidity and even mortality. Childhood-onset SLE (cSLE) is a rare disease with an incidence of 0.3-0.9 per 100.000 children-years and a prevalence of 3.3-8.8 per 100.000 children.

Macrophage activation syndrome (MAS) in different pediatric rheumatic disease

The primary diagnoses of the patients included in the study, respectively; systemic juvenil idiopathic arthritis (n=5), Systemic Lupus Erythematosus (n=2), juvenile dermatomyositis (n=2), a neonatale onset multisystem inflammatory disease (NOMID) and a microscopic polyartritis nodosa. The mean age of the patients was 9.9 years old (1-14), and male to female ratio was 3:8. The mean duration of underlying disease was 6 months (1-24 months) at the diagnosis of MAS. We found MAS due to infection in four patients ,while used medicine in a patient. MAS were developed spontaneously in 6 patients. The clinical manifestations of MAS included fever 7 (63.6%),mucosal bleading 6 (54.5%), neurologic involvement 4 (36.4%) and hepatomegaly 6 (54.5%). We found thrombocytopenia in 9 (81.8%), leucopenia in 5 (45.5 %), increased AST in 7 (63.6%), hypofibrinogenemia in 6 (54.5%), increased ferritin in 11 (100%), decreased ESH in 4 (36.4%) and increased triglyceride in 10 (90.9%) patients. We investigated bone marrow in all patients, and hemophagocytosis were determinated in 8 (72.7%). The medications were pulse methylprednisolone 6 (54.5%), intravenous immunoglobulin 8 (72.7%), plasma exchange 5 (45.5%), cyclosporine 6 (54.5%), dexamethasone 1 (9.1%), etoposide 1 (9.1%). The prognosis of patients were recovery 8 (72.7%), and exitus 3 (27.3%). Conclusion In conclusion, MAS can be developed in various pediatric rheumatologic disease and fatal. Prompt recognition and timely treatment can result good outcomes.

Clinical response to the canakinumab in crohn’s disease related artrhritis

Results A 4 years old girl was admitted because of right hip pain. When she was 1 year old was diagnosed with Crohn’s disease and taken sulfasalazine and corticosteroid. She had septic arthritis in her right hip one year ago. On admission, we have found pain and limitation in right hip. Also she was growth retardation. In her laboratory findings, acute phase reactants were elevated (white blood cells :20 500 /mm3, Thrombocyte : 596 000/ mm3, ESH:120 mm/h, CRP 50,2 mg/L). She had also anemia (Hemoglobine : 8 gr/dl). We found ANA and HLA B27 were negative. We detected arthritis in right hip joint and bilateral sacroiliac joints in her MRI. Glucocorticoids and methotrexate (MTX) was started effectively; however, the patient did not reach complete remission. Therefore etanercept was added her therapy. We found homozygote MEFV mutation (M694V/M694V) and cholchine was added in her therapy. After one year, a severe arthritis flare occurred, with an aggressive polyarticular course. In consideration of the lack of control obtained through the etanercept administration. We then decided to switch from etanercept to infliximab), which was administered at 7 dose. Despite this therapy, symptoms and laboratory findings did not regress. We started canakinumab (2mg/kg/month) therapy. Her arthritis was recovery on canacinumab in 3 months.

Diagnosis of early-onset sarcoidosis with non–classical symptoms

Results A 15-month-old male patient was referred to pediatric rheumatology for evaluation of non-pruritic skin eruption most prominent on arm and leg, fever and lymphadenopathy. These symptoms began when the patient was four months old. Several antibiotics therapies had been examined. The maximal convelescence period was a month. There were no consanguinity and family history. Physical examination showed generalized, maculopapulary eruption especially on arm and leg, lymph node on left cervical and axillary region, and persistant fever. In laboratory examinations, acute phase reactans were found to be high. The serology of EBV, CMV, toxoplasma, brucella, tularemia, bartonella henselae, and Quantiferron test results were negative. Immunologic evaluations contained hemogram, blood smear, immunoglobulins, fagotest, and CD panel were normal. Urine calcium/creatinin ratio, serum ACE levels were normal. A skin biopsy taken from a papule showed subepidermal nonlangerhas histiocytes and a non-caseating granuloma. A lymph node biopsy showed granulomatous inflammation. Mediastinal lymph node was absent on thorax CT evaluation. His ophtalmological examination was normal. The granulomatous autoinflammatory disease was diagnosed. Prednisolone 2 mg/kg was administered which reduced symptoms and patient’s complaints. Then, the steroid dose was dropped. The fever and rash were absent, but the acute phase reactans were still high. His blood samples were referred for genetic testing NOD2 mutations. Methotrexate was added to the treatment, but the flair was occured two mounths later. NOD2 mutations was detected to be P268S heterozigot and V955I heterozigot. Since the patient’s response to anakinra was poor, TNF bloker was later added to the treatment. Conclusion Granulomatous autoinflammatory diseases include Blau syndrome and early-onset sarcoidosis, both are caused by mutations in the NOD2/CARD15 gene, inherited autosomal dominant and sporodic form of disease, respectively. Clinical triads are uveitis, arthritis and granulomatous dermatitis whereas the symptops we observed were fever, granulomatous dermatitis, and lymphadenopathy.

Systemic vasculitis in a child mimicking mercury poisoning

Results A 12 year-old girl was admitted to our hospital with complaints of weakness, weight loss (10 kg in the last month), excessive sweating, and abdominal and joint pains. Her complaints started 6 weeks prior to admittance when she began to suffer from intermittent fever, acrodynia and back and abdominal pain. Also she was found to have red painful hands, a blood pressure 170/120 mm Hg, and tachycardia. In laboratory examinations, acute phase reactants were very high while viral markers, ANA and ANCA were negative. Renal doppler ultrasound and MR angiography were normal. We found sensorial neuropathy in her legs. Her blood pressure was controlled with 2 different antihypertensive medicines. The patient’s symptoms were not controlled with steroid treatment, we continued our research. A blood mercury concentration of 12.4 Mcg/L (ref value 0,3 mcg/L )and spot urine mercury concentration of 18.8 Mcg/L (ref value 0.15 Mcg/L) were discovered. The girl was treated with metalcaptase 25 mg/kg three times daily for 5 days, then every 12 hours for another 2 weeks (total duration, 19 days).