Hepatolenticular degeneration combined with primary antiphospholipid syndrome: a case report.
نویسندگان
چکیده
biochemical parameters were within the normal reference ranges. Thrombocytes were 77 ! 10 9 /l; neither thrombocyte aggregation nor schistocytes were found on peripheral blood smear examination. The autoantibodies against ds-DNA, Sm, Ro/ SS-A, La/SS-B and RNP antigens (ELISA) and ANA titer (1: 40 HEP-2) were negative. The antiphospholipid antibodies – IgG isotype (48 GPL) and IgM isotype (56 GPL) anticardiolipin antibodies – were elevated (ELISA) as well as those of 2 -glycoprotein (IgG 11.5, IgM 2.0). The lupus anticoagulant (LAC) test was positive while the Wassermann and antithrombotic antibody tests were negative. A repeat antiphospholipid antibody test after 3 months was again positive. The samples tested for the WaalerRose rheumatoid factor were negative. The neuroborreliosis examination was negative both in serum and cerebrospinal fl uid. A bone marrow puncture was performed because of current thrombocytopenia: the cytologic examination evidenced bone marrow hyperplasia of hypercellular megakaryocytic type. Liver and spleen ultrasonography demonstrated hepatosplenomegaly (liver at the right medioclavicular line – 152 mm, homogeneous normoechogenic structure; cross-section size of spleen – 50 mm). Brain magnetic resonance imaging (MRI) at Dear Sir, Hepatolenticular degeneration (HLD), also known as Wilson’s disease, is an autosomal recessive defect in the metabolism of copper accompanied by a clinical constellation of symptoms of brain and liver damage [1, 2] . Clinical progression can vary from favorable to untreatable depending on an early and accurate diagnosis [3] . Primary antiphospholipid syndrome (PAS) is an autoimmune disorder in which the antiphospholipid antibody production causes recurrent arterial and venous thrombosis, thrombocytopenia and symptoms of connective tissue disease [4, 5] . We report and discuss the unusual combination of HLD and PAS.
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عنوان ژورنال:
- European neurology
دوره 55 1 شماره
صفحات -
تاریخ انتشار 2006