Translational perspectiveWe report striking respiratory chain deficiency and high levels of the m.3243A>G mitochondrial DNA mutation in cardiac muscle from two young asymptomatic adults found dead-in-bed. Our findings suggest this is an unrecognized clinical entity in individuals carrying the m.3243A>G mutation. We have developed new cardiac guidelines for the management of patients with the m.3243A>G mutation. In addition, because of the frequency of this mutation in the population, it should be screened for in all cases of unexplained SADS.
Background: Intravascular fasciitis (IVF) is a rare benign condition characterised by reactive myofibroblastic proliferation arising from the superficial or deep fascia and involving arteries and/ or veins. It is a distinct variant of the more common condition of nodular fasciitis, which possesses similar clinical and histological features to IVF, but lacks vascular invasion. A thorough review of the literature revealed 26 reported cases of IVF.
A 15 years old girl of African origin was admitted with a history of headaches and a generalised tonic seizure. Her clinical examination including fundoscopy was normal. She claimed she had been assaulted. Within a few hours of her admission she was found dead in her bed during the ward round. Cardiopulmonary resuscitation was unsuccessful. At post-mortem, the major organs showed no pathological changes and neck dissection showed no abnormality. Neuropathological examination after formalin fixation revealed a cystic lesion in the fourth ventricle, ependymitis and acute hydrocephalus. Histology showed parts of the parasite Taenia solium and the diagnosis was neurocysticercosis. This case highlights the need for forensic and general pathologists as well as forensic medical examiners and paediatricians to be aware of neurocysticercosis as a possible cause of sudden death in the presence of normal clinical findings and negative autopsy, especially in patients from Asian, African or South American countries. As cysticercosis is the commonest cause of seizures in the developing world, neurocysticercosis needs to be considered as a cause of sudden and unexpected death in any patient with a history of headaches and/or seizures.
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