OBJECTIVES: This study aims to describe the clinical characteristics, treatment received and outcome of patients diagnosed with HLH at the Philippine Children’s Medical Center from 2004 to 2017.

MATERIALS AND METHODS: This cross-sectional analytical study was conducted from June 10, 2023 to June 1, 2024 at the Philippine Children's Medical Center. Detailed information was obtained for each case according to protocol. A complete history was taken from the accompanying caretakers. Children aged 0 to 7 years and 11 months, recently diagnosed with focal epilepsy, were evaluated using the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5-TR) criteria. The level of early child development was determined based on the total Battelle Developmental Inventory-2 developmental quotient score.

RESULTS: The study examined 246 children with focal epilepsy. Significant findings included those children with NDD had a higher median age (4.67 years) compared to those without NDD (3.37 years) (p < .001). A higher proportion of non-NDD children were under one year old. Children without NDD had mothers with higher educational attainment (p = .015) and came from families with higher incomes (p = .003). Neonatal complications such as hypoxic-ischemic encephalopathy (HIE) and sepsis were more common in children with NDD (p = .005 and p = .006). Phenobarbital use was more frequent in children with NDD (p = .001), who also had more abnormal EEG and neuroimaging findings (p < .001). Neurodevelopmental evaluations were conducted later for children with NDD (p < .001). A significant number (75.20%) of children exhibited neurodevelopmental problems, with global developmental delay being most prevalent. Crude analysis showed associations between age, number of antiseizure medications, and delays in evaluation with increased odds of NDD.

CONCLUSIONS: The study offers insights into children with focal epilepsy at a tertiary hospital in the Philippines, emphasizing the impact of low socioeconomic status, age, birth complications and multiple anti-seizure medications. These findings are vital for clinicians to modify care plans through a multidisciplinary approach to enhance outcomes and improve quality of life in this high-risk population.

Human ; Male ; Female ; Infant Newborn: First 28 Days After Birth ; Infant: 1-23 Months ; Child Preschool: 2-5 Yrs Old ; Child: 6-12 Yrs Old ; Neurodevelopmental Disorders ; Sepsis ; Hypoxia-ischemia, Brain ; Epilepsies, Partial ; Educational Status ; Diagnostic And Statistical Manual Of Mental Disorders ; Child Development

Rasmussen’s syndrome is a neuroimmune disease characterized by progressive unilateral cerebral dysfunction, for which hemispherectomy remains the definitive treatment. We report a 9-year-old right-handed Filipino girl with drug-resistant focal seizures, epilepsia partialis continua, and progressive right hemiparesis due to left hemispheric involvement. Epilepsy surgery was not immediately feasible because of parental concerns and logistical constraints in this resource-limited setting. Despite treatment with multiple antiseizure medications, seizures remained uncontrolled, prompting initiation of immunotherapy with intravenous immunoglobulin followed by rituximab. Rituximab was associated with marked seizure reduction and functional improvement, highlighting its potential role in the management of Rasmussen’s syndrome when surgery is not feasible.
Human ; Female ; Child: 6-12 Yrs Old ; Epilepsia Partialis Continua ; Immunoglobulins, Intravenous ; Rituximab

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.

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.

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.

BACKGROUND: Granulomatous amebic encephalitis is a rare condition. Only less than 200 cases have been reported worldwide, and only three survivors have been reported to date. Two types of free living ameba are known to cause granulomatous amebic encephalitis, namely Acanthamoeba spp. and Balamuthia mandrillaris.OBJECTIVES: We report the first documented case of granulomatous amebic encephalitis in our institution, and probably in the Philippines. Based on review of previous reports internationally, this may be the youngest patient reported to contract the fatal disease.CASE SUMMARY: We present a case of an 8-month old female infant who initially presented with acute blindness. Cranial ultrasonography, computed tomography and magnetic resonance imaging all showed multiple calcified intracranial lesions with progressive malacic changes. In the course of her confinement, the patient rapidly developed seizures, remittent fever and severe neurological deficits. The patient was unresponsive to anti-koch's therapy, Amphotericin B, Ceftazidime, Amikacin and Ciprofloxacin. Unfortunately, the patient expired on the 39th hospital day. At post mortem autopsy of the brain, hematoxylin and eosin stained sections and periodic acid Schiff stain showed diffuse and chronic necrotizing inflammation with numerous amebic trophozoites surrounding the perivascular area. This confirmed the diagnosis of granulomatous amebic encephalitis. Morphology of the organisms was further confirmed by electron microscopy. However, PCR for Balamuthia DNAwas negative.SIGNIFICANCE: This is the first ever documented case of granulomatous amebic encephalitis in our institution, and also probably the first case reported in our country. The differential diagnosis of amebic encephalitis should be considered among patients with CNS infections who are refractory to treatment, even if the patient has no identified risk factors, since this could affect immunocompetent children.
Encephalitis ; Central Nervous System Infections ; Central Nervous System Diseases

BACKGROUND: Hemophagocytic Lymphohistiocytosis (HLH) usually affects children, and it may present in a number of ways, and it may imitate a number of other diseases. If diagnosis is delayed, the disease may cause permanent disability or even be fatal. The diagnostic criteria are fever, splenomegaly, cytopenias, hypertriglyceridemia and/or hypofibrinogenemia and the histopathological finding of hemophagocytosis in bone marrow, spleen, or lymph nodes. Neurological complications usually appear late in the course, and are the most incapacitating sequelae in HLH. The course is severe, often fatal.

OBJECTIVES: We hereby report the first documented case of primary hemophagocytic histiocytosis which presented initially and predominantly as focal encephalitis.

CASE SUMMARY: The case is that of a 7y/o male presented with depressed sensorium and multiple cranial nerve deficits after 2 weeks of intermittent fever. Cranial computed tomogram and magnetic resonance imaging showed multiple parenchymal lesions involving the right frontal lobe, right side of the genu of the corpus callosum, left cerebellar hemisphere, left ventral pons, dorsal midbrain and right insula with volume loss. Eventually, he developed neutropenia. Bone marrow aspiration and CSF cytology showed hemophagocytosis and erythrophagocytosis, respectively, and was diagnosed with hemophagocytic Iymphohistiocytosis. He completed HLH-2004 chemotherapy protocol. Initial genetic studies showed a defect in syntaxin expression, indicating a familial type of HLH.

CONCLUSION: Hemophagocytic Lymphohistiocytosis is a life-threatening disease characterized by uncontrolled hyperinflammation on the basis of a variety of inherited or acquired immune deficiencies. Awareness of its clinical symptoms and diagnostic criteria is important to starting prompt life-saving therapy.

Human ; Male ; Lymphohistiocytosis, Hemophagocytic