PDF(Pubmed)
Abstract：
BACKGROUND: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and brain malformations have been described in most individuals, with a broad phenotypic spectrum. This observational study, conducted through brain MRI scan analysis on a cohort of patients with genetically confirmed PKS, aims to systematically investigate the neuroradiological features of this syndrome and identify the possible existence of a typical pattern. Moreover, a literature review differentiating the different types of neuroimaging data was conducted for comparison with our population.
RESULTS: Thirty-one individuals were enrolled (17 females/14 males; age range 0.1-17.5 years old at first MRI). An experienced pediatric neuroradiologist reviewed brain MRIs, blindly to clinical data. Brain abnormalities were observed in all but one individual (compared to the 34% frequency found in the literature review). Corpus callosum abnormalities were found in 20/30 (67%) patients: 6 had callosal hypoplasia; 8 had global hypoplasia with hypoplastic splenium; 4 had only hypoplastic splenium; and 2 had a thin corpus callosum. Cerebral hypoplasia/atrophy was found in 23/31 (74%) and ventriculomegaly in 20/31 (65%). Other frequent features were the enlargement of the cisterna magna in 15/30 (50%) and polymicrogyria in 14/29 (48%). Conversely, the frequency of the latter was found to be 4% from the literature review. Notably, in our population, polymicrogyria was in the perisylvian area in all 14 cases, and it was bilateral in 10/14.
CONCLUSIONS: Brain abnormalities are very common in PKS and occur much more frequently than previously reported. Bilateral perisylvian polymicrogyria was a main aspect of our population. Our findings provide an additional tool for early diagnosis.Further studies to investigate the possible correlations with both genotype and phenotype may help to define the etiopathogenesis of the neurologic phenotype of this syndrome.
RESULTS: Thirty-one individuals were enrolled (17 females/14 males; age range 0.1-17.5 years old at first MRI). An experienced pediatric neuroradiologist reviewed brain MRIs, blindly to clinical data. Brain abnormalities were observed in all but one individual (compared to the 34% frequency found in the literature review). Corpus callosum abnormalities were found in 20/30 (67%) patients: 6 had callosal hypoplasia; 8 had global hypoplasia with hypoplastic splenium; 4 had only hypoplastic splenium; and 2 had a thin corpus callosum. Cerebral hypoplasia/atrophy was found in 23/31 (74%) and ventriculomegaly in 20/31 (65%). Other frequent features were the enlargement of the cisterna magna in 15/30 (50%) and polymicrogyria in 14/29 (48%). Conversely, the frequency of the latter was found to be 4% from the literature review. Notably, in our population, polymicrogyria was in the perisylvian area in all 14 cases, and it was bilateral in 10/14.
CONCLUSIONS: Brain abnormalities are very common in PKS and occur much more frequently than previously reported. Bilateral perisylvian polymicrogyria was a main aspect of our population. Our findings provide an additional tool for early diagnosis.Further studies to investigate the possible correlations with both genotype and phenotype may help to define the etiopathogenesis of the neurologic phenotype of this syndrome.
摘要：
背景：Pallister-Killian综合征（PKS）是一种罕见的遗传性疾病，由12p镶嵌四体引起，神经系统广泛受累。智力残疾,发育迟缓,行为问题,癫痫,睡眠障碍,大多数人都描述了大脑畸形，具有广泛的表型谱。这项观察性研究,通过脑部MRI扫描分析对一组基因证实的PKS患者进行分析，旨在系统研究该综合征的神经放射学特征，并确定可能存在的典型模式。此外，我们对不同类型的神经影像学数据进行了文献综述,以便与我们的人群进行比较.
结果：纳入31人（17名女性/14名男性；首次MRI时年龄范围为0.1-17.5岁）。一位经验丰富的儿科神经放射科医生检查了脑部核磁共振成像，盲目的临床数据。除一个个体外，所有个体均观察到大脑异常（与文献综述中发现的34％频率相比）。在20/30（67％）的患者中发现了call体异常：6例call体发育不全；8例整体发育不全伴增生性脾；4例仅增生性脾；2例call体薄。在23/31（74％）中发现了脑发育不全/萎缩，在20/31（65％）中发现了脑室增宽。其他常见特征是15/30（50％）的大脑池增大和14/29（48％）的多微细胞增大。相反，从文献综述中发现后者的频率为4%.值得注意的是,在我们的人口中，在所有14例病例中，polymicrogyria都在Perisylvian地区，在10/14是双边的。
结论：大脑异常在PKS中非常常见，发生频率比以前报道的要高得多。双侧侧翼多微是我们人口的主要方面。我们的发现为早期诊断提供了额外的工具。进一步研究与基因型和表型的可能相关性可能有助于确定该综合征的神经表型的病因。
结果：纳入31人（17名女性/14名男性；首次MRI时年龄范围为0.1-17.5岁）。一位经验丰富的儿科神经放射科医生检查了脑部核磁共振成像，盲目的临床数据。除一个个体外，所有个体均观察到大脑异常（与文献综述中发现的34％频率相比）。在20/30（67％）的患者中发现了call体异常：6例call体发育不全；8例整体发育不全伴增生性脾；4例仅增生性脾；2例call体薄。在23/31（74％）中发现了脑发育不全/萎缩，在20/31（65％）中发现了脑室增宽。其他常见特征是15/30（50％）的大脑池增大和14/29（48％）的多微细胞增大。相反，从文献综述中发现后者的频率为4%.值得注意的是,在我们的人口中，在所有14例病例中，polymicrogyria都在Perisylvian地区，在10/14是双边的。
结论：大脑异常在PKS中非常常见，发生频率比以前报道的要高得多。双侧侧翼多微是我们人口的主要方面。我们的发现为早期诊断提供了额外的工具。进一步研究与基因型和表型的可能相关性可能有助于确定该综合征的神经表型的病因。
