Multimodal imaging of a patient with RAB39B mutation
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Laurane Mackels1, Martin Moïse2, Frédérique Depierreux3,4
1Department of Neurology, CHR Citadelle of Liège, Liège, Belgium.
Abstract:
Mutations in RAB39B gene have been linked to intellectual deficiency associated with parkinsonism, also referred as to Waisman syndrome. As it appears to be a very rare cause of Parkinson Disease (PD), with only few cases described in the literature, the typical clinical and radiological features are yet to be determined. In this article, we report and illustrate multimodal brain imaging by computed tomography, magnetic resonance imaging, transcranial ultrasound (US), dopamine transporter single photon emission computed tomography and [18F]-fluorodeoxyglucose positron emission tomography ([18F]FDG-PET) in a 37-year-old man with PD features and mild mental retardation harboring a new RAB39B mutation. We then propose a comparison with data previously published regarding neuroimaging in this condition and present a summary of previous imaging reports. If our patient's results partly support previously described radiological features, they also highlight potential new characteristics of this rare syndrome. To the best of our knowledge, [18F]FDG-PET and transcranial US have never been reported before in this condition. This is therefore the first multimodal brain imaging description of a patient presenting RAB39B mutation.
Insights
Waisman syndrome, a rare cause of Parkinson Disease (PD), is linked to RAB39B gene mutations. This study presents novel multimodal brain imaging findings in a patient with a new mutation, expanding understanding of this rare neurological condition.
Area of Science:
- Neurogenetics
- Neurology
- Radiology
Background:
- Waisman syndrome, characterized by intellectual disability and parkinsonism, is a rare condition associated with RAB39B gene mutations.
- The typical clinical and radiological features of RAB39B-related Parkinson Disease (PD) remain incompletely defined due to its rarity.
Observation:
- This study details multimodal brain imaging (CT, MRI, US, DaT-SPECT, [18F]FDG-PET) in a 37-year-old male with PD features and mild intellectual disability harboring a novel RAB39B mutation.
- The patient presented with parkinsonian symptoms and mild mental retardation, alongside specific findings on various imaging modalities.
Findings:
- The multimodal imaging results partially align with previously reported radiological features of RAB39B mutations.
- Notably, this case includes the first reported use of [18F]FDG-PET and transcranial ultrasound (US) in a patient with a RAB39B mutation, revealing unique characteristics.
- The imaging data provides a comprehensive description of the brain in a patient with a new RAB39B mutation.
Implications:
- This multimodal imaging approach offers valuable insights into the neurobiological underpinnings of Waisman syndrome.
- The findings contribute to a better understanding of the spectrum of radiological manifestations associated with RAB39B mutations.
- This case report establishes a precedent for utilizing advanced neuroimaging techniques to characterize rare genetic neurological disorders.
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