BACKGROUND: To date there have been four instances of infection transmitted through blood transfusions derived from individuals who later developed variant Creutzfeldt‐Jakob disease (vCJD). The identification of further transmission of vCJD through this route would have important implications for risk assessment and public health. STUDY DESIGN AND METHODS: Through the UK Transfusion Medicine Epidemiology Review (TMER) the fate of blood donations from individuals who develop vCJD is traced and recipients of labile components are identified. The details of recipients are cross‐checked with the register of vCJD cases held at the National CJD Surveillance Unit (NCJDSU) to identify any linkage between donors and recipients. In the reverse study, when individuals with vCJD are found to have a history of blood transfusion the donors of the transfused blood components are traced and their details cross‐checked with the vCJD register to identify any missed or unrecognized linkage between donors and recipients. CASE REPORT: A case of vCJD has been identified with a history of blood transfusion in infancy. The donors who provided the components transfused cannot be identified, but a blood donor known to have donated blood to another individual who subsequently developed vCJD could have been a donor to the index case. RESULTS: The at‐risk donor is alive 20 years after the relevant donation and continued to donate for some years, until identified as at risk, with 27 other blood components issued for use in patients, none of whom are known to have developed vCJD. CONCLUSION: Circumstantial evidence has raised the possibility that the case in this report represents a further instance of transfusion transmission of vCJD. However, detailed investigation indicates that the pattern of events may have occurred by chance and disease in this individual may have been caused by transmission of bovine spongiform encephalopathy infection, as is the presumed cause in other primary cases of vCJD.
A 22-year-old immunocompetent woman who presented with a 3-week history of fever, headache, and visual loss and was found to have subnormal visual acuity and bilateral optic disc swelling. Serum cytomegalovirus (CMV) IgM and IgG and polymerase chain reaction results were positive, indicating an acute CMV infection. No cause of immunocompromise was found. After treatment with intravenous ganciclovir, the papillitis and systemic CMV illness resolved with no residual deficit. This is the first reported case of primary CMV papillitis to be successfully treated with ganciclovir alone.
Miller-Fisher Syndrome is characterised by ataxia, ophthalmoplegia and areflexia. Approximately 72% are preceded by infection, of which, Campylobacter jejuni and Haemophilus influenzae are frequently reported aetiological agents. We report a 22-year-old lady admitted with ataxia and worsening diplopia. On examination, she had bilateral abducens nerve palsies, left-sided facial weakness and widespread areflexia. Palpable lym- phadenopathy was present bilaterally. MRI showed mild inflammatory sinus disease and marked cervical lymphadenopathy. CSF revealed albuminocytologic dissociation and monospot was positive for Epstein-Barr virus. Subsequent abdominal sonography detected splenomegaly and counselling on avoiding contact sports was provided. A diagnosis of MFS was made based on the history, clinical features and supportive investigations. Anti-GQ1b antibodies were negative. MFS is typically associated with anti-GQ1b antibodies although a significant percentage (>10%) are seronegative. Recent studies have suggested anti-GAD may be associated with a broader clinical spectrum of presentations. The patient received 5 days of intravenous immunoglobulin and several weeks later she had complete symptomatic resolution. MFS is a self-limiting, though temporarily debilitating condition, and EBV should be remembered as a causative agent; particularly in susceptible demographic groups. Radiographic and viral clues, including examination of the neck, may facilitate accurate diagnosis. jkcleaver88@gmail.com
We report a case of Langerhans cell histiocytosis (LCH) with central nervous system (CNS) involvement refractory to conventional first- and second-line treatments, but responsive to tumour necrosis factor α (TNFα) inhibition and discuss implications for pathogenesis of the disease.
A 48-year-old man presented with a 14-month history of gradually progressive disequilibrium, imbalance, oscillopsia, dysarthria and cognitive impairment. Sixteen months prior to presentation to our clinic, he developed a hard lump over the right frontal bone and biopsy confirmed the diagnosis of LCH on the basis of typical cellular morphology and strongly positive staining with CD1a and S100. Initial assessment suggested that the disease was limited to the skull, but progress CT imaging 2 months later demonstrated a separate, asymptomatic right intraconal orbital lesion. At that time he developed, but did not initially report, mild persistent disequilibrium and oscillopsia. Therapy (see online supplementary data for details) with prednisolone, etoposide and vinblastine resulted in regression of both lesions, but relapsed systemic disease with biopsy-confirmed bone marrow infiltration and abdominal masses 6 months later necessitated salvage therapy with monthly intravenous methotrexate and cytarabine, truncated at 2 months by an idiosyncratic febrile reaction and a possible seizure. Investigations including CT imaging …
A 73-year-old woman presented with a 6-month history of intermittent lisp, drooling, and aspiration. Initial assessment showed right hemitongue atrophy (Figure 1) with ipsilateral fasciculations and weakness. Residual neurologic examination was unremarkable. MRI brain confirmed a right hypoglossal nerve palsy (HNP) secondary to a hypoglossal canal meningioma, with classical radiologic appearances (Figure 2).
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