title: Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Neonatology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Lauren C
authors.initials: LC
authors.lastname: Weeke
authors.affiliation: Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Eva
authors.initials: E
authors.lastname: Brilstra
authors.affiliation: Department of Pediatric Neurology, Brain Center Rudolf Magnus, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Kees P
authors.initials: KP
authors.lastname: Braun
authors.affiliation: Department of Medical Genetics, University Medical Center Groningen, Groningen, The Netherlands.
authors.forename: Evelien
authors.initials: E
authors.lastname: Zonneveld-Huijssoon
authors.affiliation: Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center/Neuroscience Campus, Amsterdam, The Netherlands.
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.affiliation: Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Bobby P
authors.initials: BP
authors.lastname: Koeleman
authors.affiliation: Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Koen L
authors.initials: KL
authors.lastname: van Gassen
authors.affiliation: Department of Neonatology, Isala Clinics, Zwolle, The Netherlands.
authors.forename: Henrica L
authors.initials: HL
authors.lastname: van Straaten
authors.affiliation: Pediatric Neurology Discipline, Department of Clinical Neurosciences, "Carol Davila" University of Medicine, Bucharest, Romania; Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania.
authors.forename: Dana
authors.initials: D
authors.lastname: Craiu
authors.affiliation: Department of Neonatology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address: l.s.devries@umcutrecht.nl.
authors.forename: Linda S
authors.initials: LS
authors.lastname: de Vries
mesh_terms: D001921:Brain / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D059906:Neuroimaging; D011247:Pregnancy; D013036:Spasms, Infantile / Q000235:genetics* / Q000473:pathology*; D027981:Symporters / Q000235:genetics*; D066127:White Matter / Q000473:pathology*
chemical_list: C470492:SLC13A5 protein, human; D027981:Symporters
keywords: Full-term; MRI; Mutations; Neonatal seizures; PWML; SLC13A5