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Mechanisms of unexpected death in tuberous sclerosis 总被引:2,自引:0,他引:2
Tuberous sclerosis complex is a protean autosomal dominant disorder characterized by multifocal tissue lesions arising from defects in cellular migration, proliferation, and differentiation. It has an association with sudden death. In the current study, review of all cases of sudden death due to tuberous sclerosis was undertaken at the Forensic Science Centre in Adelaide, Australia from 1991 to 2001, in addition to an analysis of cases from the literature. There were two local cases where unexpected death had occurred in individuals with known tuberous sclerosis, involving a 31-year-old male (epilepsy), and a 24-year-old female (massive hemorrhage into a renal angiomyolipoma). Fatal mechanisms in cases of tuberous sclerosis may be associated with underlying cardiovascular, renal and cerebral abnormalities. Sudden death may be due to cardiac arrhythmia, epilepsy, and intra-tumoral hemorrhage with additional complications including cardiac outflow obstruction, obstructive hydrocephalus, aneurysm rupture, and spontaneous pneumothorax. An awareness of the highly variable tissue manifestations of tuberous sclerosis and the mechanisms that may be responsible for death is necessary to establish correctly the diagnosis in occult cases (possibly with molecular confirmation), and to chart accurately organ changes in individuals with established disease. 相似文献
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Byard RW Blumbergs P Scott G Kennedy JD Riches KJ Martin J Thompson GN 《The American journal of forensic medicine and pathology》2006,27(4):340-344
This report highlights the importance of undertaking immunohistochemical staining of the brains of infants who die unexpectedly, as it may not only assist with the evaluation of the cause of death in an individual infant but may also help with the clinical management of subsequent siblings. A 5-month-old male infant who died suddenly was found to have diffuse beta-amyloid precursor protein (beta-APP) staining in the brain, with no unusual features in his history, death scene examination, routine autopsy dissection, and ancillary tests to suggest any definite cause of death. Due to the beta-APP staining, the possibility of previous episodes of occult trauma, apparent life threatening events (ALTEs), and accidental or inflicted suffocation was raised in the autopsy report. As detailed analyses and investigations provided no supportive evidence for trauma or inflicted injury, hypoxia was clinically considered the most likely cause. Because of these concerns, sleeping oxygen saturation levels were monitored following the birth of a subsequent sibling who had normal APGAR scores and no evidence of any health problems. Oxygen desaturation to 70% occurred in association with a color change while on the postnatal ward, and a subsequent polysomnogram showed multiple episodic significant desaturations to around 80% in association with central apnea. Other testing was unremarkable. These cases demonstrate that beta-APP staining of the brain may not only provide clues as to possible mechanisms of death in pediatric forensic cases but may indicate a need for careful clinical evaluation of subsequent siblings for possible central apnea requiring oxygen therapy. 相似文献
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Koszyca B Gilbert JD Blumbergs PC 《The American journal of forensic medicine and pathology》2003,24(2):114-118
The case is presented of a 19-year-old man who was assaulted and died shortly afterward from a large traumatic basal subarachnoid hemorrhage (TBSAH) that arose from rupture of the left vertebral artery, proximal to the point at which the artery penetrated the dura. The literature regarding TBSAH and vertebral artery rupture is reviewed, and a number of points are highlighted: patients with TBSAH may remain conscious for a period of hours after injury, subcutaneous or muscular bruising may be contralateral to the ruptured vessel, fractures of the transverse processes of the cervical vertebrae and significant pathology of the vertebral artery are not typically associated with TBSAH, and rupture of the vertebral artery may be intracranial, junctional, or extracranial. 相似文献
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G J Palmer E J De Nardi W E Fisk P C Blumbergs A J McLean 《Journal - Forensic Science Society》1989,29(6):407-412
A new technique is described of obtaining a replica cast of the human skull base by making an epoxy resin case from a silicone rubber mould of the skull base. The replica provides an accurate and permanent record of the shape and dimensions of the base of the cranial cavity, together with the location and extent of any fractures of the skull. The method gives a good correlation between these characteristics and the type and extent of brain damage. 相似文献
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