Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Dev Med Child Neurol. 2014 Jan;56(1):91-4. doi: 10.1111/dmcn.12334. Epub 2013 Nov 15.
The phenotype attributed to MECP2 mutations continues to expand. In addition to classic and variant Rett syndrome, phenotypes include non-specific intellectual disability and autism spectrum disorder in females, and fatal neonatal encephalopathy in males. One particular phenotype of parkinsonism, pyramidal signs, and neuropsychiatric symptoms (PPM-X) has been described only in males. We report on the first female with the A140V MECP2 mutation presenting with late onset cognitive regression, pyramidal symptoms, parkinsonism, and bipolar symptoms. This finding emphasizes the need to consider MECP2 sequencing in females with non-classic Rett phenotypes, particularly those with intellectual disability and neuropsychiatric features.
MECP2 突变所致表型不断扩展。除了经典型和变异型雷特综合征外，女性还表现为非特异性智力障碍和自闭症谱系障碍，男性则表现为致死性新生儿脑病。有一种特殊的帕金森病表型，即锥体外系体征和神经精神症状（PPM-X），仅见于男性。我们报告了首例 A140V MECP2 突变女性患者，其表现为迟发性认知衰退、锥体外系症状、帕金森病和双相情感障碍。这一发现强调了在非经典型雷特综合征女性患者中，尤其是在那些存在智力障碍和神经精神特征的患者中，需要考虑进行 MECP2 测序。
