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.

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.

Different Brain Phenotypes in Magnetic Resonance Imaging of Healthy Children after Prenatal Insults.

In this study, we used magnetic resonance imaging (MRI) to identify the different brain phenotypes within apparently healthy children and to evaluate whether these phenotypes had different prenatal characteristics. We included 65 healthy children (mean age, 10 years old) with normal neurological examinations and without structural abnormalities. We performed cluster analyses to identify the different brain phenotypes in the brain MRI images.

[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.

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.

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.

[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.

[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.

Retinal structure assessed by OCT as a biomarker of brain development in children born small for gestational age.

Purpose: To identify differences in neuronal tissue from retinal and brain structures in children born small for gestational age (SGA) with no abnormality in neonatal brain ultrasonography and no previous neurological impairment, and to evaluate the relationship between retinal structure and brain changes in school-age children born SGA.

Methods: Two cohorts of children were recruited: 25 children born SGA and 25 children born with an appropriate birth weight according to gestational age. All the children underwent an ophthalmic examination, which included retinal imaging using spectral-domain optical coherence tomography, and a brain MRI.

[Idiopathic intracranial hypertension: Experience over 25 years and a management protocol].

Introduction: We present our experience on idiopathic intracranial hypertension (IIH), before and after the introduction of a specific diagnosis and management protocol.

Method: A descriptive retrospective study was conducted on patients with IIH over a 25year period (1990-2015), comparing the last 7years (after introduction of the protocol) with the previous 18years.

Results: Among the 18,865 patients evaluated, there were 54 cases of IIH (29 infants and 25 children).

[A study of epilepsy according to the age at onset and monitored for 3 years in a regional reference paediatric neurology unit].

Objective: A study of epilepsy, according to the age at onset of the crisis and its causes, monitored by a Paediatric Neurology Unit over a period of three years.

Patients And Methods: Historical cohorts study was conducted by reviewing the Paediatric Neurology medical records data base of epileptic children followed-up from 1 January 2008 to 31 December 2010.

Results: A total of 4,595 children were attended during the study period.

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.

Background: De novo heterozygous mutations in the GNAO1 gene, encoding the Gα o subunit of G-proteins, are the cause of a severe neurodevelopmental disorder, featuring early infantile seizures, profound cognitive dysfunction and, occasionally, movement disorder (early infantile epileptic encephalopathy-17).

Methods: We report a further case of this association in a 20 month-old Spanish girl with neonatal-onset refractory seizures, progressive microcephaly, oral-lingual dyskinesia and nearly absent psychomotor development. We performed whole-exome sequencing, a computational structural analysis of the novel gene variant identified and reviewed the previously reported cases.

[Prognosis of symptomatic epilepsies in relation to their age of onset, monitored at a neuropediatric section of regional reference over a period of three years].

Aim: To analyze the factors involved in the prognosis of symptomatic epilepsies in relation to their age at onset, monitored at a neuropediatric section of regional reference over a period of three years.

Patients And Methods: Children diagnosed with symptomatic epilepsy, supervised from January 1, 2008 to December 31, 2010, collecting epidemiological, clinical and developmental data.

Results: Of the 4595 children attended during the period, the diagnosis of epilepsy was established at 605 (13.

[Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases].

Introduction: Aicardi-Goutieres syndrome is a rare immune disorder due to mutations in seven different genes that encode proteins called TREX1, ribonuclease H2 complex, SAMHD1, ADAR and IDIH1 (MDA5), which are involved in acid nucleic metabolism. Two cases are described in detail below caused by RNASEH2B gene mutation, one of which displays a mutation no described to date.

Case Reports: Case 1: male consulting because from 5-month-old shows loss of maturity items acquired until then, coming with several fever episodes.

[Prognosis of non-symptomatic epilepsy in relation to their age of onset, monitored at a neuropediatric section of regional reference over a period of three years].

Aim: To analyze the factors involved in the prognosis of non-symptomatic epilepsy (idiopathic and cryptogenic) in relation to their age of onset, monitored at a regional section of Neuropediatry reference over a period of three years.

Patients And Methods: Patients with diagnosis of non-symptomatic epilepsy supervised from January 1, 2008 to December 31, 2010, collecting epidemiological, clinical, complementary examinations and developmental data.

Results: Of the 4595 children attended during the period, the diagnosis of epilepsy was established in 605 (13.

[A novel neurocutaneous syndrome: Legius syndrome. A case report].

Introduction: Legius syndrome is an autosomal dominant disorder caused by the mutation in the SPRED1 gene involving a negative regulator of the RAS-MAPK pathway, similar to neurofibromin and therefore shows some clinical similarities to neurofibromatosis type I (NF1) but less severe. These patients have multiple cafe-au-lait spots, sometimes associated with skin fold freckling, dysmorphic features, lipomas, and mild learning disabilities. However, this syndrome is not associated with neurofibromas, optic gliomas, Lisch nodules or tumor predisposition.

[Mesial temporal sclerosis in paediatrics: its clinical spectrum. Our experience gained over a 19-year period].

Introduction: Mesial temporal sclerosis (MTS) is defined as neuron loss and gliosis in the hippocampus and adjacent structures. Here we report on our 19 years' experience in dealing with this condition.

Patients And Methods: A retrospective, descriptive study was conducted of patients diagnosed with MTS between May 1990 and January 2009.