IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.
Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, Bologna, Italy.
Orphanet J Rare Dis. 2024 Mar 8;19(1):107. doi: 10.1186/s13023-024-03065-5.
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.
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.
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.
帕利斯特-基利安综合征（PKS）是一种罕见的遗传疾病，由 12p 三体性镶嵌引起，广泛涉及神经系统。大多数患者存在智力障碍、发育迟缓、行为问题、癫痫、睡眠障碍和脑畸形等症状，具有广泛的表型谱。本研究通过对一组经基因证实的 PKS 患者进行脑 MRI 扫描分析，旨在系统研究该综合征的神经影像学特征，并确定是否存在典型模式。此外，还进行了文献综述，对不同类型的神经影像学数据进行了区分，以便与我们的人群进行比较。
共纳入 31 名患者（17 名女性/14 名男性；首次 MRI 时年龄范围为 0.1-17.5 岁）。一名经验丰富的儿科神经放射科医生对脑 MRI 进行了盲法评估，不参考临床数据。除 1 名患者外，所有患者均存在脑异常（与文献综述中 34%的频率相比）。20/30（67%）名患者存在胼胝体异常：6 名患者胼胝体发育不良；8 名患者胼胝体全面发育不良伴胼胝体体部发育不良；4 名患者仅胼胝体体部发育不良；2 名患者胼胝体变薄。31 名患者中有 23 名（74%）存在脑发育不全/萎缩，20 名（65%）存在脑室扩大。其他常见的特征包括 15 名（50%）患者的大脑镰下池扩大和 14 名（48%）患者的多小脑回畸形。相反，文献综述中的多小脑回畸形发生率为 4%。值得注意的是，在我们的人群中，14 例多小脑回畸形均位于侧脑室周围，其中 10 例为双侧。
PKS 患者脑异常非常常见，且比以往报道的更为常见。双侧侧脑室周围多小脑回畸形是我们人群的一个主要特征。我们的研究结果为早期诊断提供了一种额外的工具。进一步的研究可以探讨与基因型和表型之间的可能相关性，以帮助确定该综合征神经表型的病因。
