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Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children
S P Toelle1, C Yalcinkaya, N Kocer
1University Children's Hospital, Zurich, Switzerland.
Insights
Rhombencephalosynapsis, a rare congenital brain abnormality, involves cerebellar fusion and vermis agenesis. Clinical outcomes in affected children varied widely, with no clear MRI-clinical correlation found.
Area of Science:
- Neuroscience
- Developmental Biology
- Medical Genetics
Background:
- Rhombencephalosynapsis is a rare congenital brain malformation.
- It is characterized by dorsal fusion of cerebellar hemispheres, vermian agenesis/hypogenesis, and fused dentate nuclei/superior cerebellar peduncles.
Purpose of the Study:
- To describe the clinical and imaging findings in a cohort of children with rhombencephalosynapsis.
- To investigate potential correlations between neuroimaging features and clinical presentation.
Main Methods:
- Retrospective case series.
- Review of clinical data and magnetic resonance imaging (MRI) findings in 9 children diagnosed with rhombencephalosynapsis.
- Age range: 1.5 to 6 years.
Main Results:
- Nine children with rhombencephalosynapsis were identified.
- Associated conditions included isolated rhombencephalosynapsis (2 patients), hydrocephalus (3), and ventriculomegaly (3).
- Five patients had additional supratentorial abnormalities. Clinical presentations ranged from mild ataxia to severe cerebral palsy and intellectual disability.
Conclusions:
- Rhombencephalosynapsis presents with a spectrum of clinical severity.
- Associated brain abnormalities are common.
- Currently, no clear correlation exists between MRI findings and clinical outcomes in this cohort.
Abstract:
Rhombencephalosynapsis is a rare congenital abnormality characterised by dorsal fusion of the cerebellar hemispheres, agenesis or hypogenesis of the vermis, fusion of dentate nuclei and superior cerebellar peduncles. We describe 9 children, aged 1.5 to 6 years, with rhombencephalosynapsis. Isolated rhombencephalosynapsis was found in 2 patients, hydrocephalus in 3 children and another 3 children had ventriculomegaly. Additional supratentorial abnormalities were documented in 5 patients. Clinical findings ranged from mild truncal ataxia and normal cognitive abilities to severe cerebral palsy and mental retardation. No correlation between clinical findings and magnetic resonance imaging could be established so far.