Berry P J
St Michael's Hospital, Bristol.
J Clin Pathol. 1992 Nov;45(11 Suppl):11-6.
The original 1969 definition of SIDS as "unexpected by history" and "unexplained after thorough postmortem examination" is under review in the light of two decades of experience. Suggested modifications include restricting the age to less than 1 year, stipulating that the necropsy includes appropriate histology and laboratory tests, and requiring a review of the clinical history and examination of the death scene. The use of a protocol is recommended both by professional and parent groups. Although the diagnosis of SIDS is to some extent one of exclusion, there are several typical findings which are of value in diagnosis and suggest new avenues for research. External examination is important to exclude trauma and signs of suffocation. A recent study has confirmed that petechiae on the face are rare in SIDS and if found raise the question of deliberate or accidental suffocation. Frothy fluid escaping from the nose and mouth is seen in about half of infants who die from SIDS. Postmortem hypostatic staining as an indicator of position has assumed increased importance since prone sleeping has been shown to be a major risk factor for SIDS. Evidence of sweat in clothing suggests overwrapping. Internal examination shows subserosal petechial haemorrhages in the thymus in most cases. These may be related to age and are commoner in babies dying of SIDS than in controls. Relative sparing of the cervical extension of the thymus is strong evidence for negative intrathoracic pressure, perhaps due to upper or lower airway obstruction. Other typical findings are liquid heart blood, prominent lymph nodes, and an empty bladder (which frustrates some biochemical tests in about half of cases). The lungs are usually well inflated, arguing against surfactant deficiency as a significant cause of SIDS. Microscopic evidence of pulmonary oedema and congestion is found in infant deaths for many reasons and is not discriminatory for SIDS. Minor inflammation and infection of the respiratory tract is common in SIDS and may be important by contributing to overheating, apnoea, or sensitisation to bacterial toxins. Mild fatty change in the liver is very common in infant deaths. Panlobular microvesicular fatty change is rare and may require special stains for its recognition. It indicates the necessity of searching for inherited biochemical disorders. Although these are rare in true SIDS, they are an important cause of unexpected death in infancy. Of Naeye's "tissue markers of hypoxia'', extramedullary haemopoiesis in the liver and brainstem gliosis have been confirmed. Persistence of fetal haemoglobin and raised hypoxanthine values in vitreous humour are further pointers to periods of premortem hypoxia. Painstaking neuropathology has shown delayed myelination and maturation of dendritic spines. Changes in the brain may explain the link between antenatal factors such as smoking and SIDS. A second cot death in a family requires expert examination. Minor injuries or unexplained apnoeic spells may be important retrospective clues to non-accidental injury. Investigations mus exclude inherited disorders before the death is ascribed to SIDS. Parents demand that the pathologist takes care of their baby before, during, and after the necropsy, carries out the procedure to a high standard, checks reconstruction of the body, facilitates access, and is responsible for communicating the results of the examination. The "SIDS postmortem" presents both a practical and an intellectual challenge.
鉴于二十年的经验,1969年对婴儿猝死综合征(SIDS)最初的定义“根据病史无法预料”以及“经过全面尸检后无法解释”正在接受重新审视。建议的修改内容包括将年龄限制在1岁以下,规定尸检要包括适当的组织学检查和实验室检测,以及要求复查临床病史并勘查死亡现场。专业团体和家长团体都建议采用一份协议。尽管婴儿猝死综合征的诊断在某种程度上是一种排除性诊断,但有几个典型发现对诊断有价值,并为新的研究途径提供了线索。外部检查对于排除外伤和窒息迹象很重要。最近一项研究证实,面部瘀点在婴儿猝死综合征中很少见,如果发现则会引发蓄意或意外窒息的疑问。约半数死于婴儿猝死综合征的婴儿会出现口鼻有泡沫状液体流出的情况。自从俯卧睡眠被证明是婴儿猝死综合征的一个主要危险因素以来,尸斑作为体位指标的重要性日益增加。衣物上有汗液痕迹表明包裹过度。内部检查显示,大多数情况下胸腺有浆膜下瘀点性出血。这些可能与年龄有关,在死于婴儿猝死综合征的婴儿中比在对照组中更常见。胸腺颈部延伸部分相对较少是胸内负压的有力证据,这可能是由于上呼吸道或下呼吸道阻塞所致。其他典型发现包括心脏血液呈液态、淋巴结肿大以及膀胱空虚(这在约半数病例中会使一些生化检测无法进行)。肺部通常充气良好,这表明表面活性物质缺乏并非婴儿猝死综合征的重要病因。肺水肿和肺充血的微观证据在多种原因导致的婴儿死亡中都能发现,对婴儿猝死综合征并无鉴别意义。呼吸道的轻微炎症和感染在婴儿猝死综合征中很常见,可能通过导致过热、呼吸暂停或对细菌毒素敏感而具有重要影响。肝脏轻度脂肪变性在婴儿死亡中非常常见。全小叶微泡性脂肪变性很少见,可能需要特殊染色才能识别。这表明有必要查找遗传性生化紊乱。尽管这些在真正的婴儿猝死综合征中很少见,但它们是婴儿期意外死亡的一个重要原因。在奈伊的“缺氧组织标志物”中,肝脏中的髓外造血和脑干神经胶质增生已得到证实。玻璃体液中胎儿血红蛋白持续存在以及次黄嘌呤值升高进一步表明生前存在缺氧期。细致的神经病理学研究显示有髓鞘形成延迟和树突棘成熟延迟的情况。大脑的变化可能解释产前因素如吸烟与婴儿猝死综合征之间的联系。家庭中出现第二例婴儿猝死需要专家检查。轻微损伤或不明原因的呼吸暂停发作可能是回顾性诊断非意外损伤的重要线索。在将死亡归因于婴儿猝死综合征之前,调查必须排除遗传性疾病。家长要求病理学家在尸检前、尸检期间和尸检后照顾好他们的婴儿,高标准地进行尸检程序,检查尸体摆放,提供便利,并负责通报检查结果。“婴儿猝死综合征尸检”带来了实际和学术两方面的挑战。