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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
An approach to reporting paediatric leukoencephalopathy and leukodystrophies
A Davies1, A Tolliday1, I Craven1
1Radiology Department, Children's Hospital, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Insights
Leukodystrophies (LD) and leukoencephalopathies (LE) are complex brain disorders. This review simplifies their assessment for radiologists, focusing on common UK diagnoses and differential mimics.
Area of Science:
- Neuroradiology
- Paediatric Neurology
- Genetics
Background:
- Leukodystrophies (LD) and leukoencephalopathies (LE) encompass a wide spectrum of cerebral white and grey matter disorders.
- These conditions exhibit significant heterogeneity in clinical presentation, imaging findings, and underlying biochemical abnormalities.
- The complexity and varied imaging appearances pose challenges for non-specialist radiologists.
Purpose of the Study:
- To provide a simplified, step-wise approach for assessing suspected LD/LE in paediatric patients.
- To focus on common LD/LE diagnoses encountered in the UK.
- To highlight critical non-LD/LE differentials that impact treatment and prognosis.
Main Methods:
- Review of common paediatric leukodystrophies and leukoencephalopathies.
- Application of a diagnostic framework based on signal distribution (Schiffmann & Van der Knapp).
- Identification of key radiological mimics.
Main Results:
- A structured approach to recognizing patterns of abnormal white matter signal.
- Distinguishing common LD/LE from other neurological conditions.
- Understanding normal myelination patterns in paediatric brain development.
Conclusions:
- Enhanced awareness of paediatric brain development and myelination is crucial.
- Categorizing abnormal signal distribution aids in diagnosis.
- Considering non-LD/LE mimics can significantly alter patient management and outcomes.
Abstract:
The leukodystrophies (LD) and leukoencephalopathies (LE) are a diverse group of conditions involving the cerebral white and grey matter. There is heterogeneity in the clinical presentations, imaging features, and biochemical dysfunction. Given the number of conditions and varied imaging appearances, this topic can be difficult for non-specialist radiologists who do not routinely work in dedicated paediatric neuroradiology centres. This article will aim to provide a simplified and step-wise approach to assessing suspected LD/LE, focussing on the more common diagnoses you may encounter in the UK. Additionally, it will highlight important non-LD/LE differentials, which if considered early, may significantly alter treatment and prognosis. By the end of this review, we hope the reader will begin to develop an awareness of physiological paediatric brain development in terms of normal myelination; the ability to recognise and categorise the distribution of abnormal signal based on the established diagnostic framework outlined by Schiffmann & Van der Knapp; and be aware of potential non-LD/LE radiological mimics.
