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The neuroimaging spectrum of SLC13A5 related developmental and epileptic encephalopathy
Robyn Whitney1, Elaine Choi1, Kevin C Jones1
1Division of Neurology, Department of Paediatrics, McMaster University, 1200 Main Street West, Hamilton, ON, Canada.
Insights
Neuroimaging abnormalities, particularly punctate white matter lesions (PWMLs), are present in about a third of SLC13A5 related developmental and epileptic encephalopathy (DEE) cases. These findings highlight the importance of neuroimaging in diagnosing this rare genetic disorder.
Area of Science:
- Neurogenetics
- Pediatric Neurology
- Medical Imaging
Background:
- SLC13A5 related developmental and epileptic encephalopathy (DEE) is a severe autosomal recessive disorder.
- Key features include neonatal seizures, fever sensitivity, developmental delay, and tooth anomalies.
- The neuroimaging spectrum of SLC13A5-DEE is not well-characterized.
Observation:
- A case of SLC13A5-DEE presented with widespread punctate white matter lesions (PWMLs) on early MRI, mimicking metabolic or infectious etiologies.
- Follow-up MRI showed atrophy and white matter necrosis.
- A literature review identified 105 cases of SLC13A5-DEE.
Findings:
- Neuroimaging abnormalities were observed in 34% of reviewed SLC13A5-DEE cases.
- White matter abnormalities, including PWMLs (38%), were the most frequent findings.
- Initial MRIs were normal in 66% of cases, underscoring variability.
Implications:
- Neuroimaging plays a crucial role in diagnosing SLC13A5-DEE, with white matter lesions being a key indicator.
- Understanding the susceptibility to these lesions and their long-term impact on neurodevelopment requires further investigation.
- This study expands the known neuroimaging findings in SLC13A5-DEE, aiding in diagnosis and future research.
Background:
SLC13A5 related developmental and epileptic encephalopathy (DEE) is an autosomal recessive condition characterized by neonatal seizures, fever sensitivity, status epilepticus, developmental delay and tooth anomalies. The neuroimaging spectrum of SLC13A5 related DEE is not fully known. We present a case of SLC13A5 related DEE with distinct neuroimaging findings and review the neuroimaging findings of all published cases of SLC13A5 related DEE.
Methods:
A retrospective case review and focused review of the literature was completed.
Results:
A 16-month-old male with a clinical phenotype consistent with SLC13A5 related DEE and a previously reported pathogenic variant in SLC13A5, c.655G>A, p.Gly219Arg and a novel likely pathogenic variant in SLC13A5, c.202C>T, p.Pro68Ser was identified. MRI at day 5 of life revealed wide spread punctate white matter lesions (PWMLs) affecting the subcortical white matter, periventricular white matter, splenium of the corpus callosum, posterior limb of the internal capsule, corticospinal tracts, midbrain, pons and medulla, mimicking a metabolic/infectious etiology. MRI at one month showed atrophy and evolution of white matter necrosis. One hundred and five cases of SLC13A5 related DEE were identified. Initial MRI was completed in 62 cases (59%). MRI was normal in 41 cases (66%) and abnormal in 21 (34%). White matter abnormalities were most common (n=15, 71%); PWMLs occurred in 8 cases (38%).
Conclusion:
Neuroimaging abnormalities may exist in a third of SLC13A5 related DEE cases. White matter abnormalities such as PWMLs appear most common. It remains unknown why some are susceptible to these lesions and how they affect long-term neurodevelopmental outcomes in SLC13A5 related DEE.
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