Abstract：
We report the association, not previously described, between trisomy 20/ monosomy 18 and congenital bilateral perisylvian syndrome (CBPS), a condition featuring intellectual disability, epilepsy, oro-motor dysfunction and bilateral perisylvian polymicrogyria (BPP) in a 29-year-old individual. Detailed clinical evaluation, long-term EEG and EEG analysis by means of electrical source imaging (ESI), 3T MRI and array-CGH were performed. Clinical examination showed moderate/severe intellectual disability, dysmorphic features, oro-motor dysfunction, short stature, abnormal hands and feet, bradykinesia and abnormal posture. The patient had suffered from drug-resistant epilepsy since infancy. Brain MRI showed that BPP was consistent with CBPS. Additional imaging features revealed corpus callosum and cerebellar hypoplasia and fusion of the C1-C2 vertebrae. Ictal EEG and ESI documented tonic seizures originating from the right polymicrogyric cortex. Facial gestalt included dysmorphic features reported in patients with 18- and 20+ chromosomal rearrangements. Array-CGH showed an unbalanced translocation, arr(18p)x1(20p)x3. In conclusion, we provide a detailed electro-clinical and MRI description of a novel condition characterized by the association between trisomy 20p/monosomy 18p and CBPS, also illustrating its clinical evolution into adulthood. This information may help paediatricians, neurologists and geneticists to better counsel families about the developmental prognosis of this rare unbalanced chromosomal rearrangement.
摘要：
我们报告协会，之前没有描述过，在20三体/18单体和先天性双侧包膜综合征（CBPS）之间，一种以智力残疾为特征的疾病，癫痫,一名29岁个体的口动功能障碍和双侧周氏多囊（BPP）。详细的临床评估，通过电源成像（ESI）进行长期EEG和EEG分析，进行3TMRI和阵列CGH。临床检查显示中度/重度智力残疾，变形特征，Oro-运动功能障碍,身材矮小,异常的手和脚，运动迟缓和姿势异常。该患者自婴儿期以来就患有耐药性癫痫。头颅MRI显示BPP与CBPS符合。其他影像学特征显示call体和小脑发育不全以及C1-C2椎骨融合。IctalEEG和ESI记录了源自右多微皮质的强直性癫痫发作。面部格式塔包括18和20染色体重排患者报告的畸形特征。Array-CGH显示不平衡易位，ARR（18p）x1（20p）x3。总之,我们提供了详细的电临床和MRI描述的一个新的条件的特点是三体20p/整体18p和CBPS之间的关联，也说明了它的临床进化到成年。这些信息可能有助于儿科医生，神经学家和遗传学家更好地建议家庭对这种罕见的不平衡染色体重排的发展预后。
