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Abstract Details

Case Report of BRAT1-associated Lethal Neonatal Rigidity and Multifocal Seizure Syndrome
Child Neurology and Developmental Neurology
Child Neurology and Developmental Neurology Posters (7:00 AM-5:00 PM)
048
To describe a neonate with novel homozygous BRAT1 variant causing lethal neonatal rigidity and multifocal seizure syndrome (RMFSL), in which early genetic panel testing facilitated goals-of-care discussion and patient outcomes. 
Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) is a rare disease characterized by microcephaly, rigidity, myoclonic jerks, multifocal refractory seizures, and dysautonomia in infancy. RMFSL has been linked to BRAT1 mutations, frequently homozygous frameshift mutations resulting in protein truncation.
NA
Patient presented in infancy with epileptic encephalopathy, near continuous myoclonic jerks, hypertonia, microcephaly, apneas, and multifocal seizures refractory to anti-seizure medications, vitamins, and ketogenic diet. Comprehensive metabolic work up was unremarkable, MRI identified cerebral volume loss and small corpus callosum, and normal spectroscopy. EEG identified bilateral frontotemporal slowing, frontotemporal sharp transients, and status epilepticus. Karyotype and newborn screen were normal. Microarray identified a LiNGO mutation not associated with patient’s phenotype. GeneDx epilepsy panel with deletion/duplication analysis identified a pathologic deletion of exon1-2 of BRAT1 gene, involving the initiation codon for protein BRCA-associated ATM activator 1. In our review a BRAT1 mutation involving the initiation codon has not yet been reported. The genetic findings combined with her clinical picture supported a lethal diagnosis, facilitating the family’s decision for withdrawal of care.
Early diagnosis of lethal genetic diseases may greatly impact family discussion and patient outcomes. In clinically severe epileptic encephalopathy, an early broad multi-gene panel can facilitate informed decision making.
Authors/Disclosures
Donya Eizadkhah, MD (Montefiore)
PRESENTER 		Dr. Eizadkhah has nothing to disclose.
Daniel Lax, MD (Montefiore Medical Center) Dr. Lax has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Theranica. Dr. Lax has received personal compensation in the range of $500-$4,999 for serving as a CME Lecturer with American Headache Society.