Clinical Discordance in Monozygotic Twins With Autism Spectrum Disorder

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.