Journal of medical case reports
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Systemic Epstein-Barr virus-positive T-cell lymphoproliferative childhood disease is an extremely rare disorder and classically arises following primary acute or chronic active Epstein-Barr virus infection. It is characterized by clonal proliferation of Epstein-Barr virus-infected T-cells with an activated cytotoxic phenotype. This disease has a rapid clinical course and is more frequent in Asia and South America, with relatively few cases being reported in Western countries. The clinical and pathological features of the disease overlap with other conditions including infectious mononucleosis, chronic active Epstein-Barr virus infection, hemophagocytic lymphohistiocytosis and natural killer cell malignancies. We describe the rare case of systemic Epstein-Barr virus-positive T-cell lymphoproliferative childhood disease in a 16-year-old Malay boy. ⋯ Although systemic Epstein-Barr virus-positive T-cell lymphoproliferative childhood disease is a disorder which is rarely encountered in clinical practice, our case report underlines the importance of a comprehensive diagnostic approach in the management of this disease. A high level of awareness of the disease throughout the diagnosis process for young patients who present with systemic illness and hemophagocytic syndrome may be of great help for the clinical diagnosis of this disease.
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Cardiovascular comorbidities regularly determine renal function. We report a case of acute kidney injury (Acute Kidney Injury Network stage 3) due to an intermittent third-degree atrioventricular block, which had not been diagnosed before. ⋯ Here, typical neurologic symptoms of bradycardia were misclassified. Diagnostic work-up of oliguric acute kidney injury revealed intermittent third-degree heart block. The pathomechanism of acute kidney injury relates to relevant bradycardia and increased vascular stiffness attenuating arterial diastolic renal blood flow.
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Although extracorporeal membrane oxygenation has made sufficient progress to be considered for the management of life-threatening cardiac and respiratory failure, the risk of hemorrhagic complications may outweigh the benefits for patients with bleeding tendencies. We report, to the best of our knowledge, the first case of successful treatment by extracorporeal membrane oxygenation, without any hemorrhagic complications, of postpartum cardiorespiratory failure after massive uterine bleeding. ⋯ Even in cases of obstetric bleeding, if clotting status is stringently monitored, extracorporeal membrane oxygenation can be considered as an ultimate means of life support.
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Déjà vu is typically a transient mental state in which a novel experience feels highly familiar. Although extensively studied in relation to temporal lobe epilepsy as part of simple partial seizures, déjà vu has been less studied in other clinical populations. A recent review of temporal lobe epilepsy suggested a possible link between clinical levels of anxiety and debilitating déjà vu, indicating further research is required. Here, for the first time in the literature, we present a case study of a young man with anxiety and depersonalisation who reported experiencing persistent and debilitating déjà vu. This report therefore adds to the limited literature on the relationship between anxiety and déjà vu. ⋯ Our case's memory performance was more conservative than controls but did not indicate a memory deficit. Unlike other patients with chronic déjà vu (for example, in dementia), he is fully aware of the false nature of his déjà vu and this presumably leads to his intact recognition memory performance. We suggest that his persistent déjà vu is psychogenic and conclude that déjà vu should be further studied in psychiatric disorders.
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Case Reports
Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.
Hereditary hyperekplexia is a neurological disorder characterized by excessive startle responses with violent jerking to noise or touch, stiffening of the trunk and limbs, clenching of the fists and attacks of a high-frequency trembling. Hyperekplexia has a heterogeneous genetic background with several identified causative genes and demonstrates both dominant and recessive inheritance. Mutations in the glycine receptor alpha 1 subunit gene occur in about 30 percent of hyperekplexia cases. ⋯ Direct sequencing of the coding regions and the flanking introns of the glycine receptor alpha 1 subunit gene revealed a novel heterozygous missense mutation (c.211A/T, p.Ile71Phe). Genetic screening of our patient's family revealed that the clinically unaffected parents and sister do not carry the mutation, suggesting that the identified sequence change is a de novo mutation. Since hyperekplexia can have severe consequences, including sudden infant death due to laryngospasm and cardiorespiratory failure, identification of the causative genetic alteration(s) of the disease is high priority. Such knowledge is necessary for prenatal diagnosis, which would allow informed family planning and greater parental sensitivity to hyperekplexia 1-associated risks.