ABSTRACT
@#Tuberous Sclerosis Complex (TSC) is a genetic disorder that presents in a myriad of clinical manifestations affecting the different organ systems. These manifestations emerge at different times in a patient’s lifespan and diagnosis early in the disease can be challenging. Majority of patients with TSC develop epilepsy and is often one of the most difficult to manage. We report two neonates with drug resistant epilepsy with seizure onset on the first day of life and were subsequently diagnosed with Tuberous Sclerosis. These two neonates exemplified the diverse phenotypic expression of TSC.
ABSTRACT
BACKGROUND@#Anti-N-Methyl-D-Aspartate receptor (anti-NMDAR) Encephalitis is the most common type of autoimmune encephalitis that affects children, adolescents and young adults. Since its discovery in 2007, there is still a paucity of data on the disease and factors affecting its outcome.@*OBJECTIVES@#To describe the clinical characteristics of children and adolescents with anti-NMDAR encephalitis and to analyze factors that may affect its outcome.@*METHODS@#Forty-three patient records of diagnosed anti-NMDAR Encephalitis were included. The outcome was evaluated using the modified Rankin Scale (mRS), and Clinical Assessment Scale for autoimmune Encephalitis (CASE). @*RESULTS@#Ages ranged from 2 years to 18 years old, majority in the 12-18 years age range. Sixty percent were female. First line treatment using immunotherapy was given to all patients: 37% as monotherapy and 84% combination therapy (MPT only 23%, IVIg only 4%, MPT + IVIg or TPE 21-26%, and MPT + IVIg + TPE 16%). Clinical outcomes on discharge and on follow-up were assessed using the mRS and CASE. On discharge the proportion of the patients who had mild impairment (mRS<2, CASE<9) was more than 50%. On median duration follow-up of 31 weeks (range 24-40 weeks), 96.8% had significant improvement (mRS<2, CASE<9). Among the possible factors that were assessed to affect outcome, only severity of the illness at the start of the treatment influenced clinical outcome.@*CONCLUSION@#Early diagnosis and initiation of treatment before the progression of the disease will promote faster recovery and more optimal clinical outcome. CASE may be used as an additional tool in assessing response to treatment.
ABSTRACT
OBJECTIVE@#To compare the safety and efficacy of buccal midazolam as opposed to rectal diazepam in the treatment of acute seizures in children less than 18 years old.@*METHODOLOGY@#This is a meta-analysis of randomized controlled trials comparing the use of buccal midazolam and rectal diazepam as treatment for acute seizures in children less than 18 years old. The total population of each study are as follows: 330 patients (Mpimbaza, 2008), 43 patients (Baysun, 2005), and 17 patients, all less than 18 years old, coming into the emergency department due to seizures.@*RESULTS@#There is no significant difference in the mean duration of seizure in minutes and seizure cessation in ten minutes between the buccal midazolam and rectal diazepam groups (Mean difference 0.39; 95% Confidence interval [CI] -0.18 to 0.96; p=0.17; Risk ratio [RR] 0.99; 95% CI 0.83 to 1,19, p=0.2). There is no significant difference in the risk of respiratory depression between buccal midazolam and rectal diazepam (RR 0.96; 95% CI 0.22 to 4.13; p=0.61).@*CONCLUSION@#The administration of buccal midazolam and rectal diazepam are similar in terms of efficacy and safety in terms of time to seizure cessation, termination of seizure within ten minutes, and risk of respiratory depression.