The voltage-gated sodium channel neuronal type 2 alpha subunit (Na v α1.2) encoded by the SCN2A gene causes early infantile epileptic encephalopathy (EIEE) inherited in an autosomal dominant manner. Clinically, it has variable presentations, ranging from benign familial infantile seizures (BFIS) to severe EIEE. Diagnosis is achieved through molecular DNA testing of the SCN2A gene. Herein, we report on a 30-month-old Saudi girl who presented on the fourth day of life with EIEE, normal brain magnetic resonance imaging (MRI), normal electroencephalography (EEG), and well-controlled seizures. Genetic investigation revealed a novel homozygous missense mutation (c.5242A > G; p.Asn1748Asp) in the SCN2A gene (NM_001040142.1). This is the first reported autosomal recessive inheritance of a disease allele in the SCN2A and therefore expands the molecular and inheritance spectrum of the SCN2A gene defects.

Background. Filter clotting is frequent during continuous renal replacement therapy (CRRT), which increases anemia risk. We studied anemia and blood transfusion in critically ill patients requiring CRRT for acute kidney injury and assessed the relationship between CRRT filter life span and PRBC transfusion. Methods. A case-control study was conducted at a tertiary-care intensive care unit (ICU) where CRRT cases were matched with controls for age, gender, admission category, and severity of illness. Daily hemoglobin levels, blood transfusions, and life span of CRRT filter were noted. CCRT patients were categorized according to the median of the filter life span (20 hours). Results. Ninety-five cases and 102 controls were enrolled. The hemoglobin level on admission was similar in the two groups, yet cases had significantly lower hemoglobin levels than controls (72.8 ± 15.3 versus 82.5 ± 20.7 g/L, p<0.001) during ICU stay. Anemia <70 g/L occurred in 50% of cases and 19% of controls (p<0.001). Most (56.3%) cases were transfused compared with 29.9% for controls (p<0.001) with higher number of transfused packed red blood cell (PRBC) units in cases (2.6 ± 4.0 versus 1.5 ± 3.2 units per patient, p=0.03). Patients with shorter versus longer filter life had similar hemoglobin level in the first 7 days of CRRT with no difference in PRBC transfusion requirement. Prefilter heparin use and hemodialysis access location were not associated with longer filter life span. The mortality was similar in patients with shorter versus longer filter life. Conclusions. CRRT in ICU was associated with larger drop in hemoglobin and more PRBC transfusion. Shorter (<20 hours) versus longer CCRT filter life was not associated with increased PRBC transfusion.