1/1800. Serial brain SPECT images in a case of Sydenham chorea. BACKGROUND: The pathophysiological nature of Sydenham chorea (SC) has been presumed to be an autoimmune-mediated inflammatory process. Positron emission tomography in SC has revealed a striatal hypermetabolism that might explain the transient neuronal dysfunction. However, any focal hyperperfusion in the striatum or its related structures has not been demonstrated in previous single photon emission computed tomographic (SPECT) imaging studies, which raised a concern about the pathogenesis of the striatal hypermetabolism. OBJECTIVE: To investigate the cerebral perfusion patterns of the subcortical structures by using serial technetium Tc 99m-ethyl cysteinate dimer SPECT in a case of SC, which may provide a clue for the pathophysiological mechanisms. DESIGN: A case report and serial SPECT studies. CASE PRESENTATION: A girl aged 4 years 3 months showed severe generalized choreic movements with concomitant signs of acute pharyngitis. Results of a laboratory study taken 7 days after the onset of chorea showed elevated antistreptolysin O titer, c-reactive protein levels, and erythrocyte sedimentation rate. Other laboratory data, throat culture, echocardiography, brain magnetic resonance imaging, and electroencephalography did not reveal any abnormalities. Five days after treatment with haloperidol and penicillin, the chorea began to improve slowly, and completely resolved in 2 months. RESULTS: Three serial SPECT images and semiquantitative analysis of cerebral perfusion were obtained. Cerebral perfusion in the striatum and thalamus was markedly increased bilaterally during the stage of active chorea and then returned nearly to its baseline level during the convalescent phase. These cerebral perfusion patterns were concordant with semiquantitative analysis. CONCLUSIONS: Hyperperfusion in both the striatum and thalamus in our patient may reflect the subcortical inflammatory processes in SC. The unequivocal SPECT findings in our patient are difficult to reconcile with the negative findings of previous SPECT studies but may suggest the heterogeneity of the perfusion patterns in SC. ( info) |
2/1800. Pigmented purpura-like eruption as cutaneous sign of mycosis fungoides with autoimmune purpura. We describe the clinical and laboratory findings of a young man with mycosis fungoides. The disease was associated, since the early stages, with autoimmune purpura. Interferon alfa (IFN-alpha) administration improved this patient's condition, both the purpuric eruption and patchy cutaneous lesions, thus suggesting T-cell abnormalities may be responsible for the development of the disease. ( info) |
| diagnosis of phacoanaphylactic endophthalmitis (or lens induced uveitis), a rare autoimmune disease, is difficult due to variable clinical presentation. We sought to diagnose a case based on the cytopathology of the anterior chamber aspirate. This is a case report of spontaneous phacoanaphylactic endophthalmitis in a 79-year-old woman with no history of eye trauma or surgery. After clinical examination, diagnostic anterior chamber paracentesis was performed. Cytologic examination of the aspirate revealed polymorphonuclear leukocytes, histiocytes, and plasma cells surrounding amorphous lens material. A mature cataract was removed subsequently, and the eye has remained free of inflammation postoperatively. As the clinical diagnosis of phacoanaphylactic endophthalmitis is often difficult, cytopathology of an anterior chamber aspiration specimen may be useful in diagnosing this rare, treatable condition. As far as we know, this is the first case report of the diagnosis of phacoanaphylactic endophthalmitis solely by anterior chamber fine needle aspiration biopsy. ( info) |
| Autoimmune cholangitis is a rare chronic cholestatic liver disease. We describe the case of a 65-year-old woman with celiac disease who presented to us with fever, jaundice and weight loss. serum biochemical study showed marked increase in alkaline phosphatase and gammaGT levels. Antinuclear antibodies were positive, while antimitochondrial and anti-smooth-muscle antibodies were negative. Liver biopsy was compatible with primary autoimmune cholangitis. The patient was successfully treated with azathioprine and methylprednisolone. We describe here the uncommon association of autoimmune cholangitis with celiac disease and review the prevalence of liver diseases in patients with celiac disease. ( info) |
5/1800. life-threatening bleeding in a case of autoantibody-induced factor vii deficiency. A male patient presented with life-threatening bleeding induced by autoantibody-induced factor VII (F.VII) deficiency. This patient had macroscopic hematuria, skin ecchymosis, gastrointestinal bleeding, and a neck hematoma that was causing disturbed respiration. He developed acute renal failure and acute hepatic failure, probably due to obstruction of the ureters and the biliary tract, respectively. Although activated partial thromboplastin time was normal, prothrombin time (PT) was remarkably prolonged at 71.8 seconds compared to 14.0 seconds in a normal control. Both the immunoreactive level of F.VII antigen and the F.VII activity of the patient's plasma samples were < 1.0% of normal. Although an equal part of normal plasma was added to the patient's plasma, PT was not corrected. The patient's plasma inhibited F.VII activity. These findings suggested the presence of a plasma inhibitor for F.VII. After administration of large doses of methylprednisolone, PT was gradually shortened and plasma levels of F.VII increased over time. Bleeding, acute renal failure, and acute hepatic failure improved markedly following the steroid treatment. These observations suggest that life-threatening bleeding can be induced by autoantibody-induced F.VII deficiency and that immunosuppressive therapy using large doses of steroid can be successful in inhibiting the production of the autoantibody. ( info) |
6/1800. Complete remission of refractory anemia following a single high dose of cyclophosphamide. We describe a case of stable complete remission in a patient with refractory anemia complicated by severe autoimmune hemolytic anemia, achieved with a single high dose (4 g/m2) of cyclophosphamide (cyclo). Concomitantly, an effective mobilization of CD34-positive cells was induced. Other immunosuppressive approaches including high-dose methylprednisolone, high-dose immunoglobulin, and cyclosporine had been ineffective. This finding suggests that, in selected cases, an immunologic mechanism may mediate cytopenia in myelodysplastic syndromes (MDS). In addition, it demonstrates that successful mobilization of peripheral blood stem cells can be induced with high-dose cyclo in MDS. ( info) |
7/1800. Immune-mediated retinopathy in a patient with stiff-man syndrome. BACKGROUND: Stiff-man syndrome is a rare neurological disorder characterised by rigidity and violent spasms of the body musculature. In the majority of patients, presence of antibodies against glutamic acid decarboxylase (GAD), the enzyme synthesizing gamma-aminobutyric acid (GABA), suggests an autoimmune attack against GABA-ergic inhibitory neurons. We report a 32-year-old patient with stiff-man syndrome and anti-GAD antibodies who developed subacute progressive loss of vision in the right eye, and in the left eye 18 months thereafter. methods: Ophthalmological work-up included electro-retinogram (ERG), visual evoked potentials (VEP) and fluorescein angiography. Antiretinal antibodies were investigated using an indirect immunofluorescence technique on frozen sections of macaque retina with patients serum and FITC-conjugated goat antihuman immunoglobulin. Staining with monoclonal anti-GAD65 antibodies and with serum from three healthy normals served as controls. RESULTS: visual acuity of both eyes decreased to 0.16 within a span of 6 weeks. Perimetry revealed a central scotoma in the visual field of both eyes. VEP and flash ERG were progressively disturbed on the right eye. On the left eye, initially only pattern ERG and photopic responses were abnormal. Follow-up recordings revealed widespread pathology of photopic single and flicker responses. Immunofluorescence revealed strong reactivity of the inner plexiform layer and to a lesser extent staining of the outer plexiform layer at dilutions of 1:1000 with patients serum. The same retinal staining pattern was obtained with monoclonal anti-GAD65 antibodies. CONCLUSIONS: These findings suggest autoimmune retinopathy, mediated by anti-GAD65 autoantibodies as the underlying cause of visual loss. ( info) |
8/1800. Factor V Leiden and antibodies against phospholipids and protein S in a young woman with recurrent thromboses and abortion. We describe the case of a 39-year-old woman who suffered two iliofemoral venous thromboses, a cerebral ischemic infarct and recurrent fetal loss. Initial studies showed high levels of antiphospholipid antibodies (APAs) and a moderate thrombocytopenia. After her second miscarriage, laboratory diagnosis revealed that the woman was heterozygous for the factor V Leiden mutation and had a functional protein s deficiency as well as anti-protein S and anti-beta 2-glycoprotein i antibodies. The impairment of the protein c pathway at various points could well explain the recurrent thromboses in the patient and supports the role of a disturbed protein c system in the pathophysiology of thrombosis in patients with APAs. ( info) |
9/1800. Hepatocellular carcinoma with fibrolamellar pattern in a patient with autoimmune cholangitis. A 75-year-old woman with a 15-year history of autoimmune cholangitis underwent orthotopic liver transplantation because of progressive liver decompensation. A clinically unsuspected hepatocellular carcinoma was found. A portion of the tumor showed fibrolamellar differentiation. Hepatocellular carcinoma, either with the usual pattern or with a fibrolamellar pattern, is rare in the setting of primary biliary cirrhosis, but has been seen in the setting of autoimmune hepatitis. Autoimmune cholangitis is a relatively recently recognized form of autoimmune liver disease whose association with hepatocellular carcinoma has yet to be determined. ( info) |
10/1800. Paraproteinemic variety of pure red cell aplasia: immunological studies in 1 patient. A case of adult pure red cell aplasia (PRCA) with a serum IgG inhibitor to erythropoiesis and an IgG lambda M component is presented. The study of lymphocyte populations revealed a slight but definite decrease of E and EA rosettes, with dissociation between E rosettes and PHA blastic transformation of blood lymphocytes and increase of membrane IgM-bearing lymphocytes. The relationship between PRCA and paraproteinemia is discussed: it is suggested that the serum M component may derive from an immunological unbalance between T and B lymphocytes. Since a survey of the literature reveals 5 similar cases, it is suggested that paraproteinemia may be the hallmark of a particular variety of chronic PRCA 'type 1'. ( info) |