Heterozygous Mutation of Sodium Voltage-Gated Channel Alpha Subunit 2 and Pumilio Homolog 1 Genes in a Pediatric Patient: A Case Report.

Epilepsy is a neurological condition brought on by recurrent and spontaneous seizures in patients with hypersynchronous neuronal ensemble activity. These spontaneous seizures appear to be brought on by increased neuronal excitability and synaptic synchronization. The development of neuronal hyperexcitability and acquiring epilepsy is still poorly understood. Cell differentiation and development might be related to the pumilio RNA-binding family member 1 (Pumilio 1 (PUM1)). Complete deficiency of this gene causes misregulation of the proteins involved in the control of neuronal excitability. Furthermore, the voltage-gated sodium channels alpha subunit 2 (SCN2A) triggers action potentials in brain neurons, and a variety of severe hereditary epilepsy syndromes are caused by their mutation. Here, we present a rare case of a seven-year-old female with co-occurrence of two genetic mutations in the pumilio homolog 1 (PUM1) and sodium voltage-gated channel alpha subunit 2 (SCN2A).

Bilateral Tubo-Ovarian Abscess Colonized by Enterococcus in a Woman With Systemic Lupus Erythematosus and End-Stage Renal Disease: A Case Report.

Tubo-ovarian abscess (TOA) is an inflammatory process involving the fallopian tubes and the ovary. It is one of the complications occurring in acute pelvic inflammatory disease (PID). Intrauterine device (IUD) insertion, history of a prior PID, reproductive age, and multiple sexual partners are the most common risk factors for TOA. The diagnosis of bilateral TOA is rare. Commonly isolated organisms from the abscess include Neisseria (N.)  gonorrhoeae, Escherichia​​​​​​​ (E.) coli, and/or normal flora of the vagina and cervix. Treatment of the abscess should be started as soon as possible with broad-spectrum antibiotics as recommended by the Centers for Disease Control and Prevention (CDC) and drainage of the pelvic collection. Here, we present a complicated case in a middle-aged, sexually inactive woman with bilateral TOA colonized by Enterococcus faecalis. She is a known case of systemic lupus erythematosus (SLE) complicated by end-stage renal disease (ESRD), along with other co-morbidities. We summarize, in our case report, the experience of a successful treatment for this condition.