Mitral valve prolapse:--the facts

Mitral Valve Prolapse does not cause chest pain or other symptoms and is extremely unlikely to give rise to complications. In practice it is difficult to differentiate a 'prolapsing' valve from one that is 'normal' no matter what methods are used. Since diagnosing 'heart disease' is itself a well known cause of ill health, the most stringent criteria must be adopted before the mitral valve is labelled as being abnormal. The need for the diagnosis at all is, in most cases, doubtful.     

Performance enhancing drugs (doping agents) and sudden death – a case report and review of the literature

The case of sudden cardiac death of a 23-year-old body builder who used anabolic steroids combined with other performance enhancing drugs is reported. Postmortem investigations revealed cardiac hypertrophy, acute cellular necrosis and interstitial fibrosis of the myocardium. The side-effects and interactions of the substances used are discussed. Received: 4 November 1997 / Received in revised form: 3 March 1998     

多瓣膜受累的二尖瓣脱垂综合征1例

患者 男,9岁。因发现心脏杂音一年来我院就诊。听诊：心尖区可闻及Ⅱ-Ⅲ级收缩期杂音及收缩中晚期喀喇音,P2亢。超声心动图显示：左室56mm,右室21mm,左房46mm,右房37mm×35mm,升主动脉22mm,主肺动脉31mm。全心扩大,以左心为著。二维超声可见收缩期二尖瓣前后叶及三尖瓣前叶和隔叶脱向心房,并超过瓣环水平;     

Sudden death by laryngeal polyp: a case report and review of the literature

Sudden unexpected death in the context of bizarre or unusual behavior usually relates to acute drug intoxication or excited delirium. We report the case of a man who died suddenly while running naked on a public street. Although the initial death investigation was indicative of excited delirium or drug intoxication, autopsy revealed glottic obstruction by an inflammatory laryngeal polyp. Toxicologic studies were negative and investigation revealed presentation at a hospital the day before death with stridor. It is believed he developed airway obstruction while dressing at home and ran out on the street to find assistance. This case illustrates the importance of a thorough death investigation and a broad differential diagnosis when approaching a forensic autopsy.     

Ibogaine related sudden death: A case report

Ibogaine is a naturally occurring alkaloid derived from the roots of the rain forest shrub Tabernanthe iboga. Deaths have occurred temporarily related to the use of ibogaine. However, although not licensed as therapeutic drug, and despite evidence that ibogaine may disturb the rhythm of the heart, this alkaloid is currently used as an anti-addiction drug in alternative medicine for detoxification purposes. We report the case of a man who died suddenly 12–24 h after ibogaine use for alcohol detoxification treatment. In the autopsy liver cirrhosis and heavy fatty infiltration was found. The concentration of ibogaine was 2 mg/l. The potential risks of ibogaine use, especially for persons with pathological medical background, are discussed.     

Mitral annulus calcification and sudden death

Mitral valve annulus calcification is a degenerative cardiac condition often found at autopsy in the elderly. While usually considered incidental to the cause of death, we report two cases where mitral valve annulus calcification with valve stenosis was associated with sudden death. Case 1: a 61-year-old female who had underlying atherosclerosis and hypertension collapsed at home. At autopsy there was marked mitral valve annulus calcification with valve stenosis and cardiomegaly. Case 2: a previously well 74-year-old female collapsed in a toilet. At autopsy there was marked calcification of the mitral valve annulus with valve stenosis. In both cases death was attributed to the effects of the calcified mitral valve annulus. Although such calcification may be unrelated to the terminal lethal mechanism, the association with left atrial enlargement, atrial fibrillation, mitral regurgitation, mitral stenosis, bacterial endocarditis, ischaemic and thromboembolic stroke, myocardial infarction, and arrhythmias, means that it should not be overlooked in the differential diagnosis in cases of sudden and unexpected death.     

Neonatal sudden death caused by a novel heterozygous mutation in SLC25A20 gene: A case report and brief literature review

Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare and life-threatening autosomal recessive disorder of fatty acid β-oxidation (FAO). Most patients with CACTD develop severe metabolic decompensation which deteriorates progressively and rapidly, causing death in infancy or childhood. As CACTD in some patients is asymptomatic or only with some nonspecific symptoms, the diagnosis is easy to be ignored, resulting in sudden death, which often triggers medical disputes. Herein, we report a case of neonatal sudden death with CACTD. The neonate showed a series of severe metabolic crisis, deteriorated rapidly and eventually died 3 days after delivery. Tandem mass spectrometry (MS-MS) screening of dry blood spots before death showed that the level of long-chain acylcarnitines, especially C12-C18 acylcarnitine, was increased significantly, and therefore a diagnosis of inherited metabolic disease (IMD) was suspected. Autopsy and histopathological results demonstrated that there were diffuse vacuoles in the heart and liver of the deceased. Mutation analysis revealed that the patient was a compound heterozygote with c.199–10 T > G and a novel c.1A > T mutation in the SLC25A20 gene. Pathological changes such as heart failure, arrhythmia and cardiac arrest related to mitochondrial FAO disorders are the direct cause of death, while gene mutation is the underlying cause of death.     

Hippocampal asymmetry and sudden unexpected death in infancy: a case report

The differential diagnosis of known entities associated with sudden unexpected death in infancy is ever expanding. Here we report the case of a 10-month-old infant boy whose clinical presentation mimicked that of the sudden infant death syndrome (SIDS). This presentation included the typical features of SIDS: sleep-related death; prone position upon discovery; and minor illness within 2?days of death. Nevertheless, neuropathologic examination revealed striking hippocampal asymmetry and microdysgenesis similar to that reported previously by us in toddlers with sleep-related sudden death. Hippocampal maldevelopment in the setting of sudden death in infants and toddlers is analogous to sudden unexpected death in epilepsy associated with temporal lobe pathology, and suggests a possible role for seizures in the terminal events leading to sudden death. This report serves to alert pediatric and forensic pathologists to hippocampal asymmetry and microdysgenesis in the differential diagnosis of sudden infant death mimicking SIDS.     

心脏血管瘤1例并文献复习

目的 探讨心脏血管瘤的临床表现、影像特征和病理特点,以提高对心脏血管瘤的认识和鉴别诊断能力。 方法 回顾性分析1例经手术病理证实的心脏血管瘤病人的影像及病理资料并行文献复习。 结果 超声心动图上可见胸腔内主动脉根部右后方、腹主动脉膈肌水平左前方一实性为主的中等回声团,内部可见低、无回声区,周边可见强回声的钙化,血流未见异常。CT显示心脏肿物位于左室下壁,密度欠均匀,内部及边缘可见明显钙化;增强后病变轻度强化。MRI显示左室下壁基底段肿物明显向腔外突出,信号不均匀,增强后呈不均匀轻度强化。选择性冠状动脉造影可见肿瘤供血动脉来源于右冠状动脉。PET/CT显示病灶呈糖代谢缺失。正电子发射计算机断层扫描（PET/CT）显示病灶呈糖代谢缺失。 结论 心脏血管瘤可发生于心脏肌层,如发现心脏肌层肿物存在冠状动脉供血及明显蛋壳样钙化时,即使不具有典型强化表现,也需考虑血管瘤的诊断。     

Xanthoma disseminatum: a case report and literature review

This case report describes the neuro-opthalmologic and respiratory manifestations of xanthoma disseminatum, a rare histiocytosis syndrome characterized by disseminated lesions in a young male adult. Multimodality management of this disease, including the role of local radiotherapy, is discussed accompanied by a review of the literature.     

Ureteral intussusception: a case report and literature review

We present the case of a 64-year-old man with intussusception of the right ureter as a complication of an underlying transitional cell carcinoma. To our knowledge, this is the first case report that illustrates ureteral intussusception by both multidetector computerized tomography and magnetic resonance imaging. Although ureteral intussusceptions are thought to be associated with benign masses, our comprehensive review of the literature demonstrates that almost half of the cases are associated with underlying malignancy.     

Perisplenic pseudolesion: a case report and literature review

Distinguishing a normal variant from true pathology is a frequent task of the imager. In the assessment of the trauma patient, rapid determination of the presence or absence of intraabdominal injury is of paramount importance. We present the sonographic findings of an anatomic variant detected in a patient following blunt abdominal trauma. Trauma sonogram revealed an elongated left lobe of the liver mimicking a subcapsular splenic hematoma. This case illustrates the importance of recognizing this potential pitfall in the setting of abdominal trauma. An equivocal trauma sonogram can lead to critical delays in treatment of associated injuries and unnecessary additional imaging or even surgery.     

Witnessed sleep-related seizure and sudden unexpected death in infancy: a case report

Witnessed reports of sudden death are rare, but critical to deciphering its mechanism(s). We report such a death in a seemingly healthy 8-month-old boy in whom seizures and respiratory distress in the prone position were witnessed upon discovery during a sleep period. Following cardiopulmonary resuscitation, anoxic encephalopathy resulted in “brain death” and withdrawal of life support after 2 days. The autopsy did not reveal a primary anatomic cause of death. Metabolic evaluation failed to uncover an inborn error of ammonia, amino, organic, or fatty acid metabolism. Seizures in this case may have been secondary to cerebral hypoxia–ischemia complicating cardiorespiratory arrest of unknown etiology. Yet, they may represent the first manifestation of idiopathic epilepsy, triggering cardiopulmonary arrest, analogous to the terminal events postulated in sudden and unexplained death in epilepsy. This report alerts the forensic community to the possibility that sudden and unexplained death in infants may be due to seizures.     

Pituicytoma: case report and literature review

Pituicytoma is a rare primary tumour of the neurohypophysis or infundibulum, which masquerades as a pituitary adenoma. We present a pituicytoma case in a 45-year-old female presenting as a focal lesion of the neurohypophysis. This case report reviews the clinical, neuroimaging and histopathological features of this rare tumour in order to understand it better.     

Quadricuspid aortic valve by cardiac magnetic resonance imaging: a case report and review of the literature

Quadricuspid aortic valve (QAV) is a rare congenital cardiac entity. The recognition of QAV has clinical significance as it causes aortic valve dysfunction, commonly aortic regurgitation, and is often associated with other congenital cardiac abnormalities. We showed the important role played by cardiac magnetic resonance imaging in detecting QAV and review the available literature to explain its incidence, diagnosis, classifications, embryology, correlation between morphology of the QAV and its function, associated conditions, and management.     

Metachronous multifocal osteosarcoma: a case report and literature review

Metachronous multifocal osteosarcoma (MFOS) is a rare form of osteosarcoma manifested by one or more new tumors developing after the initial treatment of primary osteosarcoma. The pathogenesis of metachronous MFOS is still obscure whether it represents multiple true primaries or metastatic disease. However, there is a clinical significance that metachronous MFOS is a potentially curable disease [Resnick D, Kyriacos M, Greenway GD. Tumors and tumor-like lesions of bone: imaging and pathology of specific lesions. In: Resnick D, editor. Diagnosis of bone and joint disorders. Philadelphia: Saunders, 1995: p. 3697-9.]. To our knowledge, there have been only a few reports about metachronous MFOS. We report a case of MFOS in a 14-year-old boy with review of the literature.     

甲状腺肢端病(1例典型病例报告及文献复习)

目的：讨论甲状腺肢端病(TA)的影像学表现及诊断，以提高对该病的认识。方法：复习1例典型甲状腺肢端病的临床及X线表现。结果：X线片示双侧掌骨、指骨、跖骨、尺桡骨及胫腓骨呈特征性TA骨膜反应。患者有清楚的甲状腺功能亢进病史及治疗史，有眼球突出和胫前黏液水肿，ECT检查符合甲状腺功能亢进表现。结论：甲状腺肢端病是一种罕见的自身免疫性甲状腺疾病，需与肥大性骨关节病相鉴剐。