Patient: Male, 64-year-old Final Diagnosis: Parvovirus-B19 pure red cell aplasia Symptoms: Lethargy • syncope • weight loss Medication: — Clinical Procedure: Blood transfusion • bone marrow biopsy • immunoglobulin therapy Specialty: Hematology • Infectious Diseases • General and Internal Medicine Objective: Rare disease Background: Pure red cell aplasia (PRCA) is an uncommon syndrome characterized by ineffective erythropoiesis and severe anemia. Among immunodeficient patients, including those with human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS), persistent parvovirus-B19 can cause PRCA. We report a rare case of an Australian man with parvovirus-B19 mediated PRCA secondary to a new diagnosis of HIV-1/AIDS. The case highlights the importance of early treatment initiation with anti-retroviral drugs and pooled immunoglobulins to enable marrow recovery and long-term disease remission. Case Report: A 64-year-old man residing in rural Indonesia presented with severe anemia. Apart from 8 kg of unintentional weight loss, he denied any occult bleeding, diatheses, or constitutional symptoms. His bloodwork revealed a normocytic, normochromic anemia (Hb 81 g/L) with profound reticulocytopenia (9.5×10 9 /L). Parvovirus-B19 serology and polymerase chain reaction testing confirmed active viremia. Lymphopenia and an undetectable CD4 T-lymphocyte count (<1%) were also noted; HIV-1 was subsequently diagnosed. Bone marrow sampling later confirmed features consistent with parvovirus-B19-driven PRCA secondary to HIV-1/AIDS. The patient received 1 g/kg intravenous immunoglobulin for two days and initiated anti-retroviral HIV therapy. Rapid reticulocytosis with slow incrementation of his hemoglobin were observed over one month. At three years following his diagnosis, he remains in remission. Conclusions: Severe, isolated anemia in immunodeficient patients, particularly those with HIV-1/AIDS, should prompt consideration of parvovirus-B19-mediated PRCA. Depletion of CD4-T-lymphocyte populations enables the establishment of parvovirus-B19 reservoirs within erythroid progenitors, thereby hampering physiological erythropoiesis. Long-term remission can be achieved with the rapid institution of intravenous immunoglobulin and anti-retroviral HIV therapies.

Patient: Female, 26 Final Diagnosis: Atraumatic fatigue sacral fracture Symptoms: Lumbar back pain with radiculopathy Medication: — Clinical Procedure: — Specialty: General and Internal Medicine Objective: Rare disease Background: Sacral stress fractures are rare complications of pregnancy and the early postpartum. Of these, few present with lumbosacral radiculopathy. We report the first Australian case of a young multiparous woman who sustained an atraumatic, fatigue sacral fracture with associated radiculopathy. We highlight the diagnostic process and chronic management of this case, particularly in relation to a future pregnancy. Case Report: A 26-year-old multiparous Caucasian female presented with worsening lumbosacral back pain and radicular symptoms following the rapid and spontaneous vaginal delivery of her second infant. Her pregnancy was unremarkable and she had no personal risk factors for osteoporosis. A magnetic resonance imaging (MRI) scan confirmed the diagnosis of a right S1 vertebral fracture. Bone densitometry and fasting bone metabolic testing excluded pregnancy-associated osteoporosis. She was managed conservatively with intermittent bed rest, regular physiotherapy and multimodal analgesia. During a future pregnancy, she experienced a severe exacerbation of her lumbosacral radiculopathy requiring hospital admission, up-titration of her analgesia and a right S1 epidural injection. She subsequently underwent an elective caesarean section and has since benefitted from regular hydrotherapy. Conclusions: Lumbosacral radiculopathy in the absence of trauma during pregnancy or the early postpartum should prompt consideration of an underlying atraumatic, fatigue sacral fracture. Such fractures may result from the abnormal biomechanical loading of the sacrum during rapid vaginal deliveries and are most effectively diagnosed by MRI. Conservative management strategies involving physiotherapy and multimodal analgesia are recommended. Future pregnancies may exacerbate radicular symptoms. Such patients may subsequently benefit from elective caesarean section deliveries and hydrotherapy.

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Patient: Male, 23Final Diagnosis: Primary X-linked dilated cardiomyopathySymptoms: RhabdomyolysisMedication: —Clinical Procedure: —Specialty: General and Intrenal MedicineObjective:Rare co-existance of disease or pathologyBackground:Rhabdomyolysis and primary dilated cardiomyopathies without skeletal muscle weakness are rare features of X-linked dystrophinopathies. We report a rare case of an X-linked dilated cardiomyopathy (XLDCM) presenting with acute rhabdomyolysis and myocarditis. We illustrate the confounding diagnostic influence of a reactivated, persistent EBV myocarditis as the presumed cause for this patient’s XLDCM.Case Report:A 23-year-old Australian man presented with acute rhabdomyolysis and elevated creatine kinase (CK) levels. He was managed conservatively with intravenous hydration and developed acute pulmonary edema. Cardiac MRI and transthoracic echocardiogram revealed a dilated cardiomyopathy and viral myocarditis. Extensive serological investigations identified reactivation of EBV, which was presumed to account for his viral myocarditis. The patient recovered and was discharged with down-trending CK levels. Follow-up transthoracic echocardiograms and cardiac MRI showed a persisting dilated cardiomyopathy. His CK continued to remain elevated and his EBV IgM serology remained positive. An inflammatory polymyositis with either a primary autoimmune pathophysiology or secondary to a chronic EBV infection was considered. Oral corticosteroids were trialed and reduced his CK significantly until therapy was ceased. Massively parallel sequencing eventually identified a two-exon deletion targeting Xp21 consistent with the diagnosis of a rare XLDCM.Conclusions:Rhabdomyolysis and co-existing primary dilated cardiomyopathies are rare diagnostic manifestations in a minority of X-linked dystrophinopathies. Chronic viral infections and their reactivation may complicate the diagnostic process and incorrectly attribute an inherited cardiomyopathy to an acquired infective etiology. EBV reactivation rarely induces myocarditis. Therefore, primary and unresolving dilated cardiomyopathy with persistently elevated CK must prompt consideration of an underlying dystrophinopathy.