Background: Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a heterozygous deletion in the 22 chromosome at 22q13 region or by a heterozygous pathogenic variant in SHANK3 gene. PMS is one of the important etiologies in children presenting mainly with intellectual delay, epilepsy or autism spectrum disorder. Case presentation: We describe a case of a 9-year-old male with a non-specific neurodevelopmental disorder characterized by early signs of autism noticed from the age of 2 years. During his infancy, the patient exhibited slow gain of his milestones. He was later diagnosed with PMS, speech and intellectual disability. Conclusion: This study presented a novel case of a patient diagnosed with PMS in Saudi Arabia. Therefore, highlighting the clinical findings is essential to establish a common understanding of the disease. Patient education and awareness is a major part of management plan since many families might require further explanation as they might require to deliver a special education to their children affected by the syndrome. PMS is gaining great interest in research and patient awareness.

Background: Epilepsy is one of the most common neurological disorders. Existing antiseizure medications (ASMs) are still unable to control seizures in one-third of these patients, making the discovery of antiseizure therapies with novel mechanisms of action a necessity. Aim of the Study: This study aimed to determine the safety and efficacy of perampanel (PER) as an adjuvant treatment for children with drug-resistant focal-onset seizures with or without focal to bilateral tonic-clonic seizures. Patients and methods: This is a single-center retrospective study of 38 epileptic pediatric patients, aged 2 to 14, at King Faisal Specialist Hospital and Research Center whose seizures were pharmaco-resistant to more than two antiseizure medications and followed for at least three months after PER adjuvant therapy initiation. Efficacy was assessed by the PER response rate at 3-, 6-, and 12-month follow-up evaluations, and side effects were also reported. Results: Multiple seizure types were reported. Myoclonic seizures were the predominant type of epilepsy in 17 children (44.7%). At 3 months, 6 months, and 12 months of follow-up, approximately 23.4%, 23.4%, and 18.4% of the patients were seizure-free at these time points, respectively. Adverse events were documented in 14 patients (35.7%) and led to the discontinuation of PER in 26.3%, 31.6%, and 36.8% of the studied group at the 3-, 6-, and 12-month follow-ups, respectively. The most common adverse events included dizziness or drowsiness, irritability, gait disturbance, and confusion; however, all were transient, and no serious adverse effects occurred. Conclusion: Our findings confirm the therapeutic efficacy of adjunctive PER in the treatment of drug-resistant epilepsy in children. As an adjunctive treatment for epilepsy, perampanel demonstrated sufficient effectiveness and tolerability.

Choroid plexus papilloma (CPP) is a benign but rare central nervous system (CNS) neoplasm of the choroid plexus. The onset of symptoms is usually in the first decade and may occur at birth (i.e., congenital). It accounts for 0.4–0.6% of all brain tumors. Usually seen in patients who are young children. The object of this clinical case to highlight early surgical intervention, intensive and multidisciplinary care, and pharmaceutical prescriptions can enhance the patient's condition and quality of life. We herein report a rare presentation of CPP in a 6-year-old Sudanese female child with seizures. Who suffered from obstructive hydrocephalus with lateral ventricular choroid plexus papilloma. The patient underwent resection at the age of 6 months in our center's neurosurgery department. Intensive and multidisciplinary follow-up managed to maintain positive outcome and better quality of life in a relatively benign neoplasm. In spite of a wide range of therapeutic options for the management of CPP described in the literature, studies demonstrated that patients with CPP alone and underwent a surgical procedure can live independently as adults and work full-time with uncommon recurrences.