Assessing the Need for Repeat EEG in Pediatric Patients with Idiopathic Generalized Epilepsy After Anti-Seizure Medication Withdrawal Following Seizure Freedom.

Background: Most patients with idiopathic generalized epilepsy have good seizure control on antiseizure medications. Although idiopathic generalized epilepsy subtypes such as juvenile absence epilepsy and juvenile myoclonic epilepsy have a high risk of relapse, childhood absence epilepsy may have seizure remission. After 2 years of seizure freedom in childhood absence epilepsy, typically antiseizure medications are discontinued, but follow-up protocols are unclear.

Importance of Genetic Testing in Children With Generalized Epilepsy.

Introduction: Epilepsy is a neurological disorder characterized by the predisposition for recurrent unprovoked seizures. It can broadly be classified as focal, generalized, unclassified, and unknown in its onset. Focal epilepsy originates in and involves networks localized to one region of the brain.

Use of Complementary and Alternative Medicine in Children with Neuromuscular Disorders Followed at Penn State Health Pediatric Muscular Dystrophy Association Care Center Clinic.

The exact prevalence of complementary and alternative medicine (CAM) use is not known in pediatric patients with neuromuscular diseases followed by any of the 150 Muscular Dystrophy Association (MDA) Care Center Clinics nationwide. This study describes the prevalence and variety of CAM usage in this population, while also assessing the prevalence of caregiver disclosure of CAM use and caregiver perception of provider support for CAM. Fifty-two caregivers of pediatric patients seen at Penn State Health's Pediatric MDA Care Center Clinic completed our online survey.

Use of Integrative, Complementary, and Alternative Medicine in Children with Epilepsy: A Global Scoping Review.

(1) Background: Epilepsy is one of the most common chronic neurological disorders in childhood. Complementary and alternative medicine (CAM) use is highly prevalent in patients with epilepsy. Despite CAM's widespread and increasing popularity, its prevalence, forms, perceived benefits, and potential risks in pediatric epilepsy are rarely explored.

Tacrolimus Induced Leukoencephalopathy and Stroke-Like Symptoms: Case Report.

A 17-year-old female with sickle cell disease status post a recent stem cell transplant and on tacrolimus developed an acute expressive aphasia, dysphagia, and drooling. Brain MRI revealed diffuse restricted diffusion involving the bilateral corona radiata and areas of white matter in the right cerebral hemisphere most consistent with toxic leukoencephalopathy. Tacrolimus serum concentration was high at 19.

Spontaneous sublingual hematoma secondary to warfarin therapy-A rare complication.

Warfarin is the most commonly prescribed oral anticoagulant in Nepal. It is commonly used for chronic anticoagulation in patients with atrial fibrillation, venous thromboembolism, and artificial heart valves. The major side effect of warfarin is bleeding.

Hemophagocytic Lymphohistiocytosis secondary to Rickettsial infection: A case report.

Hemophagocytic Lymphohistiocytosis (HLH) is a rare life-threatening condition characterized by widespread activation of the immune system leading to tissue damage all over the body. It is divided into primary HLH due to inborn error in lymphocytes, T cells, and macrophages and secondary HLH which is mostly due to infections, systemic connective tissue diseases, and lymphoid malignancies. Here, we report a 34-year-old man with a history of high-grade fever, chills, and rigor, eschar, splenomegaly with the laboratory findings of thrombocytopenia, hypochromic RBCs with anisocytosis and basophilic stippling, elevated transaminases, and a positive Weil Felix test along with positive PCR results for Orientia tsutsugamushi and the presence of IgG and IgM antibodies.

A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy.

Autosomal recessive intellectual developmental disorder type 5 (MRT5, OMIM # 611091) is caused by biallelic pathogenic variants, leading to loss of function of the NSUN2 gene which encodes a methyltransferase involved in several biological processes, ranging from stress response to neurodevelopment (Hussain 2021). The current literature shows that MRT5 typically manifests with intellectual disability, facial dysmorphism, juvenile cataracts, chronic nephritis, hearing impairment, seizures, cerebellar atrophy, and microcephaly (Pingree et al. 2021).

A Review of the Multi-Systemic Complications of a Ketogenic Diet in Children and Infants with Epilepsy.

Ketogenic diets (KDs) are highly effective in the treatment of epilepsy. However, numerous complications have been reported. During the initiation phase of the diet, common side effects include vomiting, hypoglycemia, metabolic acidosis and refusal of the diet.

Midodrine in Liver Cirrhosis With Ascites: A Systematic Review and Meta-Analysis.

Ascites is the most common complication of liver cirrhosis. Midodrine is a vasoconstrictor that improves splanchnic and systemic hemodynamics, reduces ascites, and improves clinical outcomes. Here, we aimed to examine the role of midodrine in cirrhosis-related ascites.

Darier Roussy Subcutaneous Sarcoidosis from Nepal: A case report.

Introduction: Sarcoidosis is a common, multisystemic non-caseating granulomatous disease of unknown etiology with cutaneous lesions present in about one-fourth of patients. Darier Roussy sarcoidosis is a rare variant of sarcoidosis with distinct cutaneous presentation characterized by multiple deep-seated nodules on the trunk and extremities which could either be asymptomatic or may present mild tenderness.

Case Presentation: A case of 35 yrs male with cough and fever for 3 months was initially diagnosed as a case of tubercular lymphadenitis and started with ATT following which ATT-associated cutaneous adverse drug reaction was suspected due to development of rashes with generalized redness and mild itching a few weeks after starting ATT.

Encephalitis with Extensive Cortical Brain Magnetic Resonance Imaging Changes Secondary to Myelin Oligodendrocyte Glycoprotein Antibody Disease.

BACKGROUND The relatively new autoimmune disorder, anti-myelin oligodendrocyte glycoprotein (MOG) disease is particularly interesting because of its broad range of presentations. This entity's appearance on magnetic resonance imaging (MRI) of the brain often makes identifying this disease a challenging process. Younger patients tend to present with an acute disseminated encephalomyelitis picture, with encephalopathy and multifocal neurological signs, while older patients are more likely to present with optic neuritis.

Guillain-Barré Syndrome associated with SARS-CoV-2 infection in Nepal: A case report.

Introduction: Corona viruses may also affect the central nervous system, inducing various neurological problems. Guillain-Barré Syndrome (GBS) is a rare immune-mediated post-infectious neuropathy typically leading to ascending weakness. Herein, we present a case of the patient to show an association of GBS and SARS-CoV-2 infection in Nepal.

Successful medical management of diabetic ketoacidosis at first presentation in a child with type 1 diabetes: A case report.

Introduction And Importance: Diabetic ketoacidosis (DKA) is considered to be a common presentation of type 1 diabetes mellitus in children. It occurs when absolute or relative insulin insufficiency prevents glucose from entering the cells for use as metabolic fuel, causing the liver to quickly break down fat into ketones for use as fuel source. As a result, ketones are overproduced, accumulating in the blood and urine making the blood acidic.

Diagnostic dilemma in diagnosing rare cause of protein losing enteropathy: Waldmann's disease.

Waldmann's disease, or primary intestinal lymphangiectasia, is an unusual cause of protein-losing enteropathy primarily characterized by lymphopenia, hypoalbuminemia, and hypogammaglobulinemia. However, variable clinical presentations result dilemmas in diagnosis and effective management. We present a toddler diagnosed with Waldmann's disease managed with a high-protein diet and medium-chain triglyceride supplementation.

Diffuse midline glioma H3K27M mutation in adult: A case report.

Introduction: Diffuse midline glioma with H3 K27M mutation is a new tumor entity from 2016 which is highly aggressive and classified as a WHO Grade IV tumor regardless of histopathologic features. DMG is an aggressive tumor with a poor prognosis, predominating in children and rarely in adults. The clinicopathologic features in adults remain poorly characterized.

Role of Neurovascular Compression of Oculomotor Nerve in Ophthalmoplegic Migraine.

Ophthalmoplegic migraine is considered to occur more commonly in children than in adults. It commonly affects the oculomotor nerve among the cranial nerves. Demyelination of the nerve is proposed as the main mechanism for the etiology of ophthalmoplegic migraine, though it is not fully understood.

Complementary and Alternative Medicine (CAM) use in Children with Epilepsy.

Complementary and alternative medicine (CAM) use by the pediatric population with epilepsy in rural Pennsylvania was studied to characterize the prevalence, perceived effectiveness, and reasons for CAM use. This study additionally assessed the adequacy of parent-physician communication regarding CAM usage. A telephone survey was administered to 200 parents/caregivers of children with epilepsy followed at Hershey Medical Center.

An Uncommon Case of Splenic Abscess with Gangrenous Gas Necrosis.

Splenic abscess is a rare clinical entity with diagnostic challenges. Though rare, it is potentially a life-threatening clinical condition with high mortality reaching more than 70%. The common signs and symptoms include the triad of fever, left upper quadrant tenderness, and leukocytosis.

Vesico-Vaginal Fistula in Females in 2010-2020: a Systemic Review and Meta-analysis.

Introduction: In the Western world today, urogenital fistula, including vesicovaginal fistula (VVF), is rare. However, while it remains significant in developing parts of the world due to prolonged and obstructed labor, in this study, we systematically reviewed the existing literature, discussing VVF occurrence, its etiology, and outcomes.

Material And Methods: We used electronic databases to search relevant articles from 2010-2020.

Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings.

Pitt Hopkins-like syndrome 1 (PTHLS1, OMIM # 610042) is an ultra-rare autosomal recessive condition with a prevalence of <1/1,000,000. Intragenic deletions of CNTNAP2 has been implicated in PTHLS1, however to our knowledge a compound heterozygous deletion of exon 4 and a c.1977_1989del13; p.

Steroid in Chronic Subdural Hematoma: An Updated Systematic Review and Meta-Analysis Post DEX-CSDH Trial.

Background: Chronic subdural hematoma (CSDH) is a neurologic condition characterized as a hematoma in the subdural space with a period >3 weeks that primarily affects the elderly. Glucocorticoid, especially dexamethasone, either alone or combined with surgery, has been used to manage CSDH. We aimed to perform an updated systematic review and meta-analysis of the literature regarding the role of steroids in CSDH.

Acute Necrotizing Encephalopathy: 2 Case Reports on Mutation.

Infection-induced acute encephalopathy 3 (IIAE3) is an autosomal dominant disease resulting from a pathogenic variant in the gene. IIAE3 results in the susceptibility to the recurrence of acute necrotizing encephalopathy (ANE1) which presents as bilateral symmetric thalamic, midbrain and/or hindbrain lesions that typically develops within 1-4 days post-acute viral infection, commonly occurring before age 6. These case reports highlight a retrospective analysis of clinical data and radiographic studies on 2 ANE1 cases from our institution.

Report of a Child With Febrile Status Epilepticus and Post-COVID Multi-System Inflammatory Syndrome.

Multi-system Inflammatory Syndrome in Children (MIS-C) is a post infectious inflammatory syndrome following COVID infection. Previous case series have demonstrated that CNS involvement is less common and presents heterogeneously. The following case describes an infant with an initial presentation of refractory febrile status epilepticus.