F26同卵双胞胎…它们是一样的吗?

J. Hoblyn, Muthukumaran Thangaramanujam, C. Kenny, Melanie Ryberg, K. O'Driscoll
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引用次数: 0

摘要

同卵HD双胞胎的报道很少见(Panas et al ., 2008),表型一致性被报道为规律(Sudarsky et al ., 1973)。有报道称,三核苷酸重复数相同的双胞胎有不同的临床行为困难,但没有明显的运动差异(Gomed-Esteban et al, 2007)。据报道,这种表型不一致非常罕见(Friedman et al ., 2005),因此可以用于探索环境因素(Ketelaar, Hofstra和Hayden, 2012)。两名患有HD的女性同卵双胞胎早产6周,在相同的环境中长大。当两人(Heimler和Zanko, 1995)都年满21岁时,对HD进行了自愿预测测试。我们将报告运动、神经心理学和精神病学表现以及MRI结果。双胞胎2要求在2015年入学,双胞胎1要求在2020年入学。双胞胎1号(第一个出生):23岁因饮食失调和情绪低落被转到联络精神病学,随后有两次自杀企图和攻击性冲动行为。神经认知障碍包括记忆障碍、构音障碍和平衡困难、动机和自我照顾水平差。OT评估发现感官活动和探索性活动是必需的。MRI:考虑到患者的年龄,出现全身性双额脑萎缩是不寻常的。弥散加权成像未见急性梗死区。广泛性脑及双额脑萎缩。双胞胎2:4岁时诊断为心脏杂音,10岁时手术。18岁,情绪低落,有强迫症病史。多次自残,变得更有攻击性和暴力倾向。易怒、冲动和攻击性行为在资金困难中持续存在。OT评估建议探索性活动水平。MRI:脑实质萎缩,以额叶和颞叶最明显,脑沟和脑室突出。灰质信号返回正常。结论:目前正在进行运动、认知和行为特征的详细比较。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
F26 Identical twins .. Are they identical?
Background Reports of monozygotic HD twins are rare (Panas et al, 2008) and phenotypic concordance reported as the rule (Sudarsky et al, 1973). Reports are of twins with the same number of trinucleotide repeats, with different clinical behavioral difficulties but not significant motor differences (Gomed-Esteban et al, 2007). Such phenotypic discordance was reported as very rare (Friedman et al, 2005) and thus be used to explore environmental factors (Ketelaar, Hofstra and Hayden, 2012). Case History Two female monozygotic twins with HD were born 6 weeks premature and raised in the same environment. Voluntary predictive testing for HD was done when both (Heimler and Zanko, 1995) were aged 21 years. We will report on motor, neuropsychological and psychiatric manifestations along with MRI findings. Twin 2 required admission in 2015 while Twin 1 required admission in 2020. Twin 1 (first born): Referred to Liaison Psychiatry with Eating disorder and low mood aged 23, followed by two suicide attempts and aggressive impulsive behavior. Neurocognitive difficulties included memory impairment, dysarthria and balance difficulties, poor levels of motivation and self-care. OT assessment found a sensory level of activities and exploratory activities were required. MRI: Generalised and bifrontal cerebral atrophy appeared was unusual given the patient‘s age. There was no acute area of infarction on diffusion weighted imaging. Generalised cerebral and bifrontal cerebral atrophy noted. Twin 2: Diagnosed with a heart murmur aged 4 years and surgery aged 10 years. Presented at 18 years with low mood and history of OCD symptoms. Multiple episodes of self-harm and becoming more aggressive and violent. Irritability, impulsivity, and aggressive behavior has continued with word funding difficulties. OT assessment recommended exploratory level of activities. MRI: There was parenchymal atrophy reported, most marked in the frontal and temporal lobes with prominence of sulci and ventricles. Signal return from grey-white matter was normal. Conclusion A detailed comparison of motor, cognitive, and behavioural profile is currently in progress.
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