Highlights
- •Pathogenic variants in SLC13A5 cause an autosomal recessive developmental and epileptic encephalopathy (DEE).
- •Neonatal seizures, fever sensitivity, status epileptics, developmental delay and tooth anomalies occur.
- •Neuroimaging is abnormal in one third of SLC13A5 related DEE cases.
- •White matter abnormalities like punctate white matter lesions appear most common.
- •Periventricular leukomalacia, delayed myelination, atrophy and cortical dysplasia can occur.
Abstract
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.
Keywords
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Article info
Publication history
Published online: January 23, 2023
Accepted:
January 18,
2023
Received in revised form:
December 14,
2022
Received:
October 22,
2022
Identification
Copyright
Crown Copyright © 2023 Published by Elsevier Ltd on behalf of British Epilepsy Association. All rights reserved.
