Young I D, Harper P S
Dev Med Child Neurol. 1983 Aug;25(4):481-9. doi: 10.1111/j.1469-8749.1983.tb13794.x.
During a national survey of Hunter's syndrome, 52 boys with the severe form were ascertained. The average ages of onset and death were 2.47 and 11.77 years respectively. Most patients had a large head and short stature. Persistent diarrhoea was noted in 65 per cent of the patients. 76 per cent had an umbilical hernia. Right and left inguinal herniae were noted in 51 and 32 per cent respectively. Evidence of cardiovascular disease was found in 65 per cent of cases; and serious lower respiratory-tract disease occurred in 84 per cent. Induction of anaesthesia proved difficult or impossible in five boys. The disease pattern was dominated by the effects of neurological involvement, with initial developmental delay and behavioural disturbance, followed by regression, with convulsions and pyramidal tract signs. Death was due primarily to this neurodegenerative cachexia, with superimposed respiratory disease.
在一项关于亨特综合征的全国性调查中，确诊了52名患有严重形式该疾病的男孩。发病和死亡的平均年龄分别为2.47岁和11.77岁。大多数患者头部较大且身材矮小。65%的患者出现持续性腹泻。76%的患者患有脐疝。右侧和左侧腹股沟疝的发生率分别为51%和32%。65%的病例发现有心血管疾病证据；84%的患者发生严重的下呼吸道疾病。五名男孩的麻醉诱导被证明困难或无法进行。疾病模式主要由神经受累的影响主导，最初表现为发育迟缓及行为障碍，随后出现退化，伴有抽搐和锥体束征。死亡主要是由于这种神经退行性恶病质，并伴有叠加的呼吸系统疾病。
