acyclovir and Bone-Marrow-Diseases

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome, usually presented with abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. The main cause of mortality in DC is immunodeficiency and vital infection. DC involves multisystem, but retinal involvements are rare.Herein, we report an unusual case of pediatric DC suffering from frosted branch angiitis (FBA) after recovery of mycoplasma pneumonia. Cytomegalovirus infection and cytokine changes were found relevant to the onset of FBA. Despite corticosteroids, antiviral medication, and hematopoietic stem cell transplantation, the patient ended in poor vision with optic atrophy.This case implies that pediatricians should be aware of FBA as a rare retinal manifestation in children with DC and bone marrow failure. Cytomegalovirus may be one of the common causes and cytokines could be triggering factors.

Topics: Acyclovir; Anemia, Aplastic; Bone Marrow Diseases; Bone Marrow Failure Disorders; Child; Combined Modality Therapy; Cord Blood Stem Cell Transplantation; Dyskeratosis Congenita; Fluorescein Angiography; Follow-Up Studies; Hematopoietic Stem Cell Transplantation; Hemoglobinuria, Paroxysmal; Humans; Male; Methylprednisolone; Opportunistic Infections; Optic Atrophy; Pneumonia, Mycoplasma; Retinal Vasculitis; Retinal Vessels; Tomography, Optical Coherence

A 43-year-old Japanese woman underwent unrelated cord blood transplantation (CBT) during remission for acute lymphoblastic leukemia with t(4; 11)(q21;q23). Tacrolimus was given for prophylaxis of graft-versus-host disease. The posttransplantation clinical course was mostly uneventful, and the leukemia remained in remission. Fourteen months after CBT, the patient developed pancytopenia and hepatic dysfunction with persistent high-grade fever. The bone marrow was hypocellular with increased numbers of macrophages and hemophagocytes. The numbers of Epstein-Barr virus (EBV) copies in peripheral blood samples were remarkably high. Although the patient showed complete donor-type hematopoiesis, the titer of viral capsid antigen immunoglobulin G was low, and the results of a test for EBV nuclear antigen were negative. There was no clinical response to the reduction of immunosuppressive therapy or to the administration of high-dose methylprednisolone, human immunoglobulin, or acyclovir. The patient died 466 days after CBT of massive gastrointestinal hemorrhage due to bone marrow and hepatic failures. This case demonstrates that fatal EBV-associated hemophagocytic syndrome (HPS) can occur more than 1 year after CBT. This report is the first of a case of late-onset EBV-associated HPS following CBT.

Topics: Acyclovir; Adult; Anti-Inflammatory Agents; Antibodies, Viral; Antiviral Agents; Bone Marrow Diseases; Epstein-Barr Virus Infections; Epstein-Barr Virus Nuclear Antigens; Female; Hematopoiesis; Hemorrhage; Herpesvirus 4, Human; Humans; Immunoglobulin G; Liver Failure; Lymphohistiocytosis, Hemophagocytic; Methylprednisolone; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Time Factors; Transplantation Chimera