Primary spinal atypical teratoid/rhabdoid tumor is extremely rare. The authors present a case of atypical teratoid/rhabdoid tumor occurring in a 4-year-old girl. Magnetic resonance imaging The authors showed an intramedullary mass extending from the bulbomedullary junction to T1 with leptomeningeal dissemination. The patient died 2 weeks after diagnosis.
This is the first genetic study in Tunisian and Maghrebin atypical haemolytic and uremic syndrome patients. The high occurrence of Ile357Met mutation may reflect a founding effect. Functional impact of the 2 new mutations c.-132G>C and c.71+181A>T have to be studied. Association of simultaneous genetic abnormalities may explain the variability of atypical haemolytic and uremic syndrome, penetrance and disease phenotype.
Cardiac involvement is very common in Systemic Lupus Erythematosus (SLE), and some 30%-50% of patients suffer from some form of heart disease. Conduction defects represent a rare manifestation of SLE cardiac involvement in adults. We reported a rare case of first-degree atrioventricular block associated with SLE in a 15-year-old female. The patient was diagnosed with SLE, fulfilling the 1982 American College of Rheumatology (ACR) criteria, with malar rash, pericarditis, lymphopenia, thrombocytopenia and the presence of anti-DNA antibodies with positive ANA. The first-degree atrioventricular block was attributed to SLE and completely resolved within 3 days of corticosteroid therapy.
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