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Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations
Lauren C Weeke1, Eva Brilstra2, Kees P Braun3
1Department of Neonatology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Insights
Early-onset epileptic encephalopathy in infants caused by SLC13A5 mutations presents with refractory seizures and characteristic white matter lesions on neonatal MRI. These punctate white matter lesions evolve into gliotic scarring, aiding diagnosis.
Area of Science:
- Neurology
- Genetics
- Pediatric Epilepsy
Background:
- Early-onset epileptic encephalopathy is linked to biallelic SLC13A5 mutations, causing early-onset seizures and developmental delay.
- Detailed brain MRI findings in these patients are not well-documented.
Purpose of the Study:
- To describe the neuroimaging characteristics of SLC13A5-related epileptic encephalopathy.
- To identify specific MRI patterns associated with this genetic disorder.
Main Methods:
- Observational study of eight patients from five families with SLC13A5 gene mutations.
- Analysis of neonatal and follow-up brain MRI scans.
Main Results:
- All patients exhibited refractory neonatal seizures within the first day of life.
- Seven out of eight infants showed punctate white matter lesions (PWML) on neonatal MRI, resolving by 6 months but leaving gliotic scars by 18 months.
- Gliotic scarring patterns were consistent even in the absence of a neonatal MRI.
Conclusions:
- Therapy-resistant neonatal seizures with PWML on MRI, in the absence of hypoxic-ischemic encephalopathy, suggest SLC13A5-related epileptic encephalopathy.
- MRI findings, particularly PWML and subsequent gliotic scarring, are crucial diagnostic indicators.
Introduction:
Early-onset epileptic encephalopathy caused by biallelic SLC13A5 mutations is characterized by seizure onset in the first days of life, refractory epilepsy and developmental delay. Little detailed information about the brain MRI features is available in these patients.
Methods:
Observational study describing the neuro-imaging findings in eight patients (five families) with mutations in the SLC13A5 gene. Seven infants had an MRI in the neonatal period, two had a follow-up MRI at the age of 6 and 18 months and one only at 13 months. One patient had follow-up MRIs at 11 and 16 months and 3 and 6 years of age, but no neonatal MRI.
Results:
All patients presented with refractory neonatal seizures on the first day of life after an uncomplicated pregnancy and term delivery. Six out of seven infants with a neonatal MRI had a characteristic MRI pattern, with punctate white matter lesions (PWML), which were no longer visible at the age of 6 months, but led to gliotic scarring visible on MRI at the age of 18 months. The same pattern of gliotic scarring was seen on the MRIs of the infant without a neonatal scan. One infant had signal abnormalities in the white matter suspected of PWML on T2WI, but these could not be confirmed on other sequences.
Conclusion:
In infants presenting with therapy resistant seizures in the first days after birth, without a clear history of hypoxic-ischemic encephalopathy, but with PWML on their neonatal MRI, a diagnosis of SCL13A5 related epileptic encephalopathy should be considered.
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