Electrical status epilepticus during sleep in a male Filipino with rare nonsense mutation variant of Sotos Syndrome on Carbamazepine Monotherapy

@#Electrical status epilepticus during sleep (ESES) is an electrographic pattern associated with specific genetic disorders, brain malformations, and use of some antiseizure medications. This case report aims to present the management of ESES in Sotos syndrome (SoS) on carbamazepine. A nine-year-old Filipino male with clinical features suggestive of overgrowth syndrome presented with febrile seizure at one year old. Cranial imaging showed cavum septum pellucidum, corpus callosal dysgenesis, and ventriculomegaly. He was on carbamazepine monotherapy starting at three years old. A near continuous diffuse spike–wave discharges in slow wave sleep was recorded at nine years old hence shifted to valproic acid. Follow-up study showed focal epileptiform discharges during sleep with disappearance of ESES. Next generation sequencing tested positive for rare nonsense mutation of nuclear receptor binding set-domain protein 1 confirming the diagnosis of SoS. Advanced molecular genetics contributed to determination of ESES etiologies. To date, this is the first documented case of SoS developing ESES. Whether an inherent genetic predisposition or drug-induced, we recommend the avoidance of carbamazepine and use of valproic acid as first-line therapy.

Serratia marcescens healthcare-associated ventriculitis and cerebral abscess in a neonate with chiari II malformation: A case report and systematic review

@#<p style="text-align: justify;">Serratia marcescens is a recognized nosocomial opportunistic pathogen but rarely caused central nervous system infection especially in the neonates. Outbreaks have been documented in the neonatal intensive care units (NICU) and a higher incidence among those with surgical procedures. This review aims to describe a neonate with nonleaking lumbosacral myelomeningocele presenting with multiple pyogenic brain abscesses caused by S. marcescens admitted in a NICU. This review also presents a concise literature review discussing the potential risk factor involved, diagnostic measures and therapeutic possibilities. We present a neonate with Chiari II malformation admitted in the NICU developing S. marcescens ventriculitis after a lumbosacral myelomeningocele repair. With an empiric treatment of meropenem for one week, repeat ventricular cerebrospinal fluid analysis worsened and developed cerebral abscess as detected using cranial ultrasound. Ciprofloxacin was added and completed for six weeks with improved neurologic status. On a 6-month follow-up, sensorineural hearing loss, focal epilepsy and developmental delay were documented. A systematic review showed that prematurity and NICU outbreaks were among the most common risk factors for the central nervous system involvement of S. marcescens. Meropenem remains to be the antibiotic of choice adjunct with timely neurosurgical intervention. Brain abscess showed the worst prognosis among the neurologic sequelae.</p>