A Case of a Seven-Year-old boy with Epilepsy with Myoclonic Absence: Importance of Seizure Semiology, Genetic Etiology, and Electroencephalogram Correlation for Timely Intervention.

Epilepsy with myoclonic absence (EMA) is a rare disorder with a mean age of onset of 7 years. It is characterized clinically by rhythmic, myoclonic jerking of the head, extremities or both, with impairment of consciousness and an ictal electroencephalogram (EEG) pattern of 3 Hz bilateral, synchronous and symmetrical spike and wave discharges. Prognosis is guarded and most patients are pharmaco-resistant. We present a case of EMA, found to have a FOXP1 gene pathogenic variation and a variance of unknown significance in the MBD5 gene, who was admitted to the intensive care unit in super-refractory status epilepticus. Given the overlap in symptoms of syndromes including myoclonic-astatic epilepsy, childhood absence epilepsy and juvenile myoclonic epilepsy, a detailed seizure semiology with EEG correlation, cannot be over emphasized. In this case, the genetic etiology may lend an interesting insight to the severity and prognosis.

Neonatal Epileptic Encephalopathies.

The majority of neonatal seizures are related to common diagnoses, including hypoxic-ischemic encephalopathy and intraventricular hemorrhage. While relatively uncommon, neonatal epileptic encephalopathies represent an important group of neonatal seizure disorders that require immediate diagnosis and intervention. In this review, we provide a summary of the benign and severe neonatal epilepsy syndromes. While benign epilepsy syndromes have favorable prognoses, rapid and accurate diagnosis may prevent an unnecessarily long course of antiseizure medications. The severe epilepsy syndromes may be related to a number of underlying genetic disorders and often carry a poor prognosis. Herein we review diagnostic and therapeutic strategies, and provide a set or algorithms for said purposes.

Morbidity and mortality with early pulmonary haemorrhage in preterm neonates.

OBJECTIVE: There are no large studies evaluating pulmonary haemorrhage (PH) in premature infants. We sought to quantify the clinical characteristics, morbidities and mortality associated with early PH. DESIGN: Data were abstracted from the Pediatrix Clinical Data Warehouse, a large de-identified data set. For incidence calculations, we included infants from 340 Pediatrix United States Neonatal Intensive Care Units from 2005 to 2014 without congenital anomalies. Infants <28 weeks' gestation with PH within 7 days of birth were then matched with two controls for birth weight, gestational age, gender, antenatal steroid exposure, day of life 0 or 1 intubation and multiple gestation. RESULTS: From 596 411 total infants, we identified 2799 with a diagnosis of PH. Peak incidence was 86.9 cases per 1000 admissions for neonates born at 24 weeks' gestation. We then identified 1476 infants <28 weeks' gestation with an early PH diagnosis at ≤7 days of age of which 1363 (92.3%) were successfully matched. Patients with early PH had significantly higher exposure to poractant alfa (35.4% vs 28%), diagnosis of shock (63.7% vs 51%) and grade IV intraventricular haemorrhage (20.8% vs 6%). Patients with PH also had significantly higher mortality rates at 7 days of age (40.6% vs 18.9%), 30 days of age (54% vs 28.8%) and prior to discharge (56.9% vs 33.7). CONCLUSION: In this large cohort of premature infants, we found PH to be common among the most premature babies. Early PH was associated with significant morbidity and mortality in excess of 50%. A renewed focus on the underlying pathophysiology and prevention of PH is warranted.