Ho Angela, Towheed Atif, Luong Sandy, Zucker Samuel, Fethke Eric
Medicine, Touro College of Osteopathic Medicine, Middletown, USA.
Pediatrics, Touro College of Osteopathic Medicine, Middletown, USA.
Cureus. 2022 May 7;14(5):e24813. doi: 10.7759/cureus.24813. eCollection 2022 May.
There is a significant concordance of autism spectrum disorder in monozygotic (MZ) twins, where behavioral manifestations are heavily influenced by genetic factors. We describe a case of male monozygotic twins with autism spectrum disorder (ASD), raised in the same household, that present with different clinical manifestations. One of the twins presents with intermittent frank syncopal episodes, sinus bradycardia, and elevated alkaline phosphatase (ALP), while the other has symptoms of attention-deficit/hyperactivity disorder (ADHD), normal cardiological findings, and normal ALP level. The clinical discordance in this pair of monozygotic twins may be due to any of the following: 1) neuroanatomic cerebellar differences, 2) variable expression of genotype, and 3) inconsistent neurotransmitter regulation.
单卵双胞胎患自闭症谱系障碍的一致性显著，其行为表现受遗传因素的严重影响。我们描述了一对在同一家庭中长大的患有自闭症谱系障碍（ASD）的男性单卵双胞胎，他们表现出不同的临床表现。其中一个双胞胎出现间歇性明显晕厥发作、窦性心动过缓和碱性磷酸酶（ALP）升高，而另一个有注意力缺陷多动障碍（ADHD）症状、心脏检查结果正常且ALP水平正常。这对单卵双胞胎的临床不一致性可能归因于以下任何一种情况：1）神经解剖学上的小脑差异，2）基因型的可变表达，以及3）神经递质调节不一致。
