[Withdrawal and reintroduction of pharmacological treatment of epilepsy in paediatric patients. Our experience].

Introduction: There are many variables to be considered in the withdrawal of treatment for epileptic seizures, which requires a risk-benefit assessment.

Patients And Methods: A retrospective study of patients in a neuropaediatric practice who required the reintroduction of treatment for epilepsy after its initial withdrawal, and who continue to receive anti-seizure drugs.

Results: Twenty-three of 57 children whose treatment was withdrawn are currently being administered the treatment as a monotherapy.

Exploring the Spectrum of Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review.

Background: Rho-related BTB domain-containing protein 2 () is a protein that interacts with cullin-3, a crucial E3 ubiquitin ligase for mitotic cell division. has been linked to early infantile epileptic encephalopathy, autosomal dominant type 64 (OMIM618004), in 34 reported patients.

Methods: We present a case series of seven patients with -related disorders (-RD), including a description of a novel heterozygous variant.

['Wait and see' in paediatric epilepsy. Our experience].

Introduction: Pharmacological treatment of epilepsy is not healing; it tries to avoid seizures, as far as possible, in children who probably would still have them.

Patients And Methods: Our purpose is to analyse our experience with epileptic children and those who have a first non-symptomatic seizure without pharmacological treatment. Patients seen in a paediatric neurology consultation, from 2017 to 2021, who had suffered one or more acute non-symptomatic crises and who had not been treated pharmacologically, were analysed.

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

Background: KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving cause KBG syndrome, but no genotype-phenotype correlation has been reported.

Methods: 67 patients with KBG syndrome were assessed using a custom phenotypical questionnaire.

[Allan-Herndon-Dudley syndrome: a diagnosis to rule out in any male infant with undiagnosed hypotonia].

Unlabelled: Allan-Herndon-Dudley syndrome is a rare X-linked genetic disorder, caused by a deficiency of the monocarboxylate transporter 8 (MCT8), a specific transporter of thyroid hormones, with functions mainly at the brain level. The syndrome produces an early onset of severe neurological disorder, in which hypotonia predominates.

Objective: To present a rare case with an unexpected diagnosis, highlighting the usefulness of requesting a complete thyroid profile in every hypotonic male infant without a specific cause.

[Telematic attention in a neuropediatrics consultation during the COVID-19 alarm state. Cross-sectional study and satisfaction survey].

Introduction: Crisis caused by the SARS-CoV-2 virus limit face-to-face consultation to the minimum necessary, this was a change toward telephone activity.

Objective: To analyze the experience of a neuropediatric consultation, INRPC, and satisfaction survey with the telephone consultation during COVID-19 crisis.

Material And Methods: Observational, cross-sectional, descriptive and analytical study of healthcare activity, as well as user satisfaction, during the State of Alarm in a neuropediatric consultation in a regional referral hospital.

Intracranial arachnoid cysts and epilepsy in children: Should this be treated surgically? Our 29-year experience and review of the literature.

Introduction And Objective: Arachnoid cysts (ACs) are relatively frequent lesions related to different neurological symptoms, being mostly incidentally diagnosed. This study aims to clarify whether AC surgery in epileptic patients is useful in their treatment.

Material And Methods: The patients registered in the database of the Neuropediatrics Section from May 1990 to August 2019 are analyzed retrospectively.

Neurological manifestations of neurofibromatosis type 1: our experience.

Introduction: Neurofibromatosis type 1 (NF1) is a progressive multisystem disorder following an autosomal dominant inheritance pattern that presents with multiple neurological manifestations.

Methods: We reviewed medical histories of patients with NF1 followed up at our hospital's paediatric neurology department from May 1990 to 31 December 2018. We collected data on neurological symptoms.

[Abusive head trauma. A review of our experience].

Introduction: Abusive head trauma (AHT) is defined as an injury to the skull or intracranial contents due to inflicted blunt impact and/or shaking. It is characterized by the triad: encephalopathy, retinal haemorrhages and subdural hematoma. The main objective is to know the epidemiological, clinical and radiological characteristics; as well as the short and long term outcomes of patients diagnosed with AHT.

[Isolated attention deficit disorder with/without hyperactivity in clinical practice. Series of cases].

Attention deficit disorder with hyperactivity has a high prevalence affecting 5 % of school-age children. We present a case series of 82 children with said disorder not associated with neurological diseases or intellectual disability or autism spectrum disorder, treated during a period of 8 months in a neuropediatrics clinic: 57 cases of combined type, 23 of inattentive type and 2 of overactive predominance. Average follow-up time: 7 ± 2.

A novel mutation in the gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report.

Background: Weiss-Kruszka syndrome (WSKA) is a rare disorder caused by mutations in the gene or deletion of 9p31.2 chromosome region, involving . The prevalence of WSKA is unknown as only 24 affected individuals have been described.

[Infant with intracranial calcifications and retinopathy].

Introduction: Intracranial calcifications can have a number of different causes, and the distribution and characteristics they present in neuroimaging can orient the specialist towards one or another. It is important to rule out the most frequent entities that are accompanied by intracranial calcifications, but other more remote genetic causes, such as Coats plus syndrome, should not be overlooked.

Case Report: Ex-premature female Infant with a gestational age of 34 weeks, diagnosed with retinopathy at 9 months after presenting strabismus.

Neurological manifestations of neurofibromatosis type 1: our experience.

Introduction: Neurofibromatosis type 1 (NF1) is a progressive multisystem disorder following an autosomal dominant inheritance pattern that presents with multiple neurological manifestations.

Methods: We reviewed medical histories of patients with NF1 followed up at our hospital's paediatric neurology department from May 1990 to 31 December 2018. We collected data on neurological symptoms.

[Treatment of attention-deficit/hyperactivity disorder in clinical practice. A retrospective study].

Attention deficit hyperactivity disorder (ADHD) is a complex and heterogeneous neurodevelopmental disorder, of a chronic nature, of multifactorial etiology, mainly due to genetic and environmental factors. We conducted a retrospective analytical study of the t herapeutic management of children diagnosed with ADHD. A sample of 82 children diagnosed with ADHD (74.