Neuromyotonia in a 16-year-old female with dramatic improvement after IVIG therapy: Case report and literature review.

Neuromyotonia, also known as Isaac syndrome, is a rare neurological disorder characterized by continuous muscle activity, stiffness, and spontaneous muscle contractions, it is very rare in children. We report a 16-year-old female patient with neuromyotonia. She presented with pain, stiffness, autonomic symptoms and muscle myokymia in both lower limbs.

Pediatric Chronic Inflammatory Demyelinating Polyneuropathy: Challenges in Diagnosis and Therapeutic Strategies.

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare autoimmune neurological disorder seen in both pediatric and adult populations. CIDP typically presents with progressive and persistent weakness over at least 4 weeks in addition to sensory symptoms in the extremities. Although CIDP shares common clinical features between children and adults, it sometimes presents as a distinct clinical entity in children that requires close attention and recognition.

Health related quality of life in a Saudi population of patients with epilepsy.

Objectives: To assess the quality of life for epilepsy patients in Saudi Arabia. Epilepsy, one of the most prevalent chronic neurological conditions in the world, frequently results in a low quality of life.

Methods: This cross-sectional study analyzed data between September 2020 and September 2021 from 102 adult patients with epilepsy in outpatient clinics department of Epilepsy Program at King Fahad Medical City compared it to 108 healthy controls during the same study period.

Sleep quality, daytime sleepiness, and insomnia in patient with epilepsy: .

Objectives: To measure the burden of insomnia and daytime sleepiness (DTS) and their effects on sleep quality, and the risk factors of poor quality of sleep.

Methods: We conducted a cross-sectional study of 218 epilepsy patients. We administered well-validated and previously translated questionnaires to assess sleep quality, insomnia, and DTS using the Pittsburgh Sleep Quality Index, Insomnia Severity Index, and Epworth Sleepiness Scale, respectively.

Seizure-related injuries in people with epilepsy: A cohort study from Saudi Arabia.

Objectives: Patients with epilepsy have a high risk of accidents and injuries, resulting in minimized physical activity and social withdrawal. Therefore, we surveyed the prevalence and the types of injuries that patients with epilepsy may endure, and the factors that may increase the risk of injuries.

Methods: In this cohort study, adult and pediatric patients diagnosed with epilepsy (age ≥ 7 years) and a close family member (parents/guardian) attending the outpatient epilepsy clinics at King Fahd Medical City (Riyadh, Saudi Arabia) were interviewed by neurologists.

Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia.

Acute necrotizing encephalopathy of childhood (ANEC) is a rapidly progressing encephalopathy characterized by fever, depressed level of consciousness, and seizures. Diagnosis depends on clinical presentation and characteristic neuroimaging findings of abnormal signal intensity involving the thalami as well as the supra and infra-tentorial areas. Treatment modalities are not well-established; empirical treatment with antibiotics and antiviral agents is the initial step, followed by steroids and immunoglobulin, as well as supportive care.

Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.

Background: Recently, de novo loss- or gain-of-function mutations in the KCNA2 gene; have been described in individuals with epileptic encephalopathy, ataxia or intellectual disability.

Case Description: In this report, we describe a further case of KCNA2-early-onset epileptic encephalopathy. The patient presented since birth with intractable seizures, progressive microcephaly, developmental delay, and progressive brain atrophy.