Related Experiment Videos
Chiari I malformation in asymptomatic young children with Williams syndrome: clinical and MRI study
E Mercuri1, J Atkinson, O Braddick
1Visual Development Unit, University College London, UK.
Insights
Williams syndrome patients may frequently have Chiari I malformation, even without neurological symptoms. Further research is needed to assess incidence and identify at-risk children.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Williams syndrome is a rare genetic disorder affecting development.
- Clinical presentation typically includes developmental delay and distinct facial features.
- Neurological examination in young children can be challenging to interpret.
Observation:
- Two young children (2y 4m, 3y) with Williams syndrome presented with mild global delay but normal neurological exams.
- Magnetic Resonance Imaging (MRI) revealed Chiari I malformation in both patients.
- Non-specific white matter changes were noted in the centrum semiovale and posterior to lateral ventricles.
Findings:
- Chiari I malformation, characterized by cerebellar tonsil displacement (8.5mm and 7.5mm), was observed in both subjects.
- The presence of Chiari I malformation in Williams syndrome may occur without overt neurological signs.
- Incidental white matter abnormalities were also detected via MRI.
Implications:
- Chiari I malformation may be an underrecognized feature in Williams syndrome.
- Early identification of Chiari I malformation could inform long-term monitoring strategies.
- Further studies are essential to determine the prevalence and clinical significance of these findings in Williams syndrome populations.
Abstract:
We report clinical and magnetic resonance imaging findings in two young children, aged 2 years 4 months and 3 years, with Williams syndrome. Both showed a mild global delay, although their neurological examination was completely normal. Their magnetic resonance imaging, however, showed Chiari I malformation and some non-specific changes in the centrum semiovale and in the white matter posterior to the lateral ventricles. Cerebellar tonsils were displaced through the foramen magnum 8.5 and 7.5 mm respectively. Our results suggest that Chiari I malformation can also be a frequent feature in subjects with Williams syndrome even in the absence of overt neurological signs suggestive of it. Whether these children might develop acute signs later is not known at present. Further studies are needed not only to evaluate the incidence of these findings in the global population of subjects with Williams syndrome but also to identify the children who are at risk for developing acute neurological signs.