Subject(s)
Anti-N-Methyl-D-Aspartate Receptor Encephalitis , Encephalitis, Herpes Simplex , Humans , Encephalitis, Herpes Simplex/complications , Encephalitis, Herpes Simplex/diagnosis , Encephalitis, Herpes Simplex/therapy , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/complications , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/diagnosis , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/therapy , Receptors, N-Methyl-D-Aspartate , AutoantibodiesABSTRACT
PURPOSE: To describe a case series of patients investigated in internal medicine for orbital inflammation (OI) since the individualization of the clinical entity of the IgG4-related orbital disease (IgG4 ROD). PATIENTS AND METHODS: Thirty four patients were consecutively referred by a specialized center where orbital biopsy was performed when the lesion was surgically accessible. Fourteen patients were excluded in case of missing data or lymphoma, periocular xanthogranuloma or Graves' orbitopathy. Patients with systemic or auto-immune disease according to the international criteria, or presenting with idiopathic orbital inflammation syndrome (IOIS), were included. Knowing the histological similarities between IOIS and IgG4 ROD, immunohistochemical assessment of plasma cells for IgG4 positivity was performed for every patient with available biopsy. Clinical and biological characteristics, treatment and response to treatment of included patients are reported. RESULTS: Among 22 included patients, 10 presented with orbital manifestation of a systemic or autoimmune disease including 2 sarcoidosis (9%) and 8 (36%) cases of non specific OI which were reclassified in IgG4 ROD. Finally, IOIS of various clinicopathological presentation was diagnosed for 12 patients including 10 with histological documentation. Whereas relapse and resistance were not found to be related to IgG4 positivity (50% in both IOIS and IgG4 ROD groups), another treatment in addition to corticosteroids was more often necessary in IgG4 ROD patients (50%) than in IOIS patients (25%). CONCLUSION: After ruling out auto-immune orbital diseases, especially IgG4 ROD, IOIS should be discussed. Factors conditioning the corticosteroid response are yet to be determined.
Subject(s)
Inflammation/therapy , Orbital Diseases/therapy , Adult , Autoimmune Diseases/diagnosis , Autoimmune Diseases/pathology , Autoimmune Diseases/therapy , Female , Humans , Inflammation/diagnosis , Inflammation/pathology , Internal Medicine , Male , Middle Aged , Orbital Diseases/diagnosis , Orbital Diseases/pathology , Orbital Pseudotumor/diagnosis , Orbital Pseudotumor/pathology , Orbital Pseudotumor/therapy , Retrospective Studies , Syndrome , Young AdultABSTRACT
INTRODUCTION: Fabry disease is a lysosomal storage disorder linked to an alpha-galactosidase A deficiency that can lead to heart and kidney failure. There is little data about the prognosis of patients who undergo a combined heart and kidney transplantation. CASE REPORTS: Two brothers who were diagnosed with Fabry disease after the age of 30 years underwent a combined heart and kidney transplantation at respectively 49 and 42 years of age because of a severe hypertrophic cardiomyopathy with end stage renal failure. They are alive respectively 4 and 9 years after the transplantation. No recurrence of the disease in the transplanted organs has been found. CONCLUSION: Combined heart and kidney transplantation in Fabry disease is an efficient therapy for the cardiomyopathy and kidney failure. Its prognosis can be good when the patients are carefully selected. However, an early diagnosis is critical in order to avoid a procedure associated with a high perioperative mortality.
