Journal of medical case reports
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Case Reports
Posterior instrumentation after a failed balloon kyphoplasty in the thoracolumbar junction: a case report.
Balloon kyphoplasty provides symptomatic relief of vertebral compression fractures in elderly patients. Peri-operative complications are rare; however, they can potentially be devastating. To the best of our knowledge, complications during balloon kyphoplasty have not been described previously in published case reports. ⋯ Patients presenting with residual pain over a previous balloon kyphoplasty level should raise high suspicion for a fracture or complication involving the levels above and/or below the balloon kyphoplasty. The best way to treat fractures that develop after a failed balloon kyphoplasty is to instrument and fuse posteriorly. Our present case report shows that a high level of suspicion for possible new fractures should be maintained for all similar cases.
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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.
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Non-aneurysmal spontaneous subarachnoid hemorrhage is characterized by an accumulation of a limited amount of subarachnoid hemorrhage, predominantly around the midbrain, and a lack of blood in the brain parenchyma or ventricular system. It represents 5% of all spontaneous subarachnoid hemorrhage cases. In spite of extensive investigation, understanding of the mechanisms leading to perimesencephalic non-aneurysmal subarachnoid hemorrhage remains incompletely defined. A growing body of evidence has supported a familial predisposition for non-aneurysmal spontaneous subarachnoid hemorrhage. ⋯ We report the cases of two siblings with perimesencephalic non-aneurysmal subarachnoid hemorrhage, which may further suggest a familial predisposition of non-aneurysmal spontaneous subarachnoid hemorrhage and may also point out the possible higher risk of perimesencephalic non-aneurysmal subarachnoid hemorrhage in the first-degree relatives of patients with perimesencephalic non-aneurysmal subarachnoid hemorrhage.
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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.