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Published on: September 12, 2011
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children
Anna Fetta1,2, Francesco Toni3, Ilaria Pettenuzzo1,2
1IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.
Insights
Brain abnormalities are highly prevalent in Pallister-Killian syndrome (PKS), a rare genetic disorder. This study highlights specific neuroradiological patterns, particularly bilateral perisylvian polymicrogyria, aiding in early diagnosis.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Pallister-Killian syndrome (PKS) is a rare genetic disorder characterized by mosaic tetrasomy of 12p, often presenting with significant neurological involvement.
- Commonly observed neurological issues include intellectual disability, developmental delays, behavioral problems, epilepsy, sleep disturbances, and brain malformations, with a wide phenotypic spectrum.
Conclusions:
- Brain abnormalities are far more common in PKS than previously understood.
- Bilateral perisylvian polymicrogyria emerged as a key neuroradiological characteristic in the studied cohort.
- These findings offer valuable insights for the early diagnosis of PKS and suggest further research into genotype-phenotype correlations.
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.
