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Sergio Aguilera-Albesa

Sergio Aguilera-Albesa
Hospital Universitario de Navarra · Pediatrics

MD, PhD

About

109
Publications
31,894
Reads
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3,731
Citations
Introduction
I am a Pediatric Neurologist with a deeper interest in children with epilepsy, and neurodegenerative disorders including cerebellar diseases and leukodystrophies.
Additional affiliations
June 2013 - May 2014
University of San Carlos of Guatemala
Position
  • Professor (Associate)
Description
  • On line Master of Developmental Neurology
January 2013 - present
Universidad Pública de Navarra
Position
  • Professor (Associate)
April 2009 - February 2015
Complejo Hospitalario de Navarra
Position
  • Medical Doctor
Education
January 2009 - December 2014
Universidad de Navarra
Field of study
  • CUM LAUDE Doctoral Thesis (Defense Dec 5): Anti-basal ganglia antibodies and streptococcal infection in patients with ADHD
July 2005 - December 2008
Universidad de Navarra
Field of study
  • Doctorate in Medicine
January 2004 - December 2006
Universidad de Navarra
Field of study
  • Fellow in Pediatric Neurology

Publications

Publications (109)
Article
Full-text available
Background Most children and adolescents infected with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) remain asymptomatic or develop a mild coronavirus disease 2019 (COVID-19) that usually does not require medical intervention. However, a small proportion of pediatric patients develop a severe clinical condition, multisystem infla...
Article
Full-text available
Here we describe the results of a genome-wide study conducted in 11 939 COVID-19 positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (p < 5x10−8) was crossed for varia...
Preprint
Background KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been published. Both loss-of-function sequence variants and large deletions (CNVs) involving ANKRD11 have been involved in KBG, but no genotype-phenotype correlation has been reported to date. This study presen...
Article
Sulfated proteoglycans are essential in skeletal and brain development. Recently, pathogenic variants in genes encoding proteins involved in the proteoglycan biosynthesis have been identified in a range of chondrodysplasia associated with intellectual disability. Nevertheless, several patients remain with unidentified molecular basis. This study ai...
Article
Full-text available
Background and Objectives Genetic white matter disorders (GWMD) are of heterogeneous origin, with more than a hundred causal genes identified to date. Classical targeted approaches achieve a molecular diagnosis in only half of all patients. Here we aim to determine the clinical utility of singleton whole-exome sequencing and whole-genome sequencing...
Article
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Objective Children with neuromuscular disorders have been assumed to be a particularly vulnerable population since the beginning of COVID-19. Although this is a plausible hypothesis, there is no evidence that complications or mortality rates in neuromuscular patients are higher than in the general population. The aim of this study is to describe th...
Article
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Circulating autoantibodies (auto-Abs) neutralizing high concentrations (10 ng/mL, in plasma diluted 1 to 10) of IFN-α and/or -ω are found in about 10% of patients with critical COVID-19 pneumonia, but not in subjects with asymptomatic infections. We detect auto-Abs neutralizing 100-fold lower, more physiological, concentrations of IFN-α and/or -ω (...
Article
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Autosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare, biochemically deleterious X-linked TLR7 variants in 16 unrelated male individuals aged 7 to 71 years (mean: 36.7 years) from a cohort of 1,202 male patients aged 0.5 to 99 years (...
Article
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Multisystem inflammatory syndrome in children (MIS-C) emerged in April 2020 in communities with high COVID-19 rates. This new condition is heterogenous but resembles Kawasaki disease (KD), a well-known but poorly understood and clinically heterogenous pediatric inflammatory condition for which weak associations have been found with a myriad of vira...
Article
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Background Patients infected with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), responsible for the coronavirus disease 2019 (COVID-19), exhibit a wide spectrum of disease behaviour. Since DNA methylation has been implicated in the regulation of viral infections and the immune system, we performed an epigenome-wide association s...
Article
Full-text available
(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by β-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that of autosomal dominant classical spinocerebellar ataxia type 5 (SCA5). (2) Methods: In-depth phenotyp...
Conference Paper
Full-text available
Validación de un cuestionario de cribado para la detección de problemas en el neurodesarrollo
Article
Background Multiple lower cranial nerve palsies have been attributed to occipital condyle fractures in older children and adults, but no clinical details of other possible mechanisms have been described in infants. Case Report A 33-month-old boy suffered blunt head trauma. A bilateral skull base fracture was diagnosed, with favorable outcome during...
Article
Objective To perform phenotype and genotype characterization in myoclonus-dystonia patients and to validate clinical rating tools. Method Two movement disorders experts rated patients with the Burke-Fahn-Marsden and Unified-Myoclonus rating scales using a video-recording protocol. Clinimetric analysis was performed. SGCE mutations were screened by...
Article
Background: Coronavirus disease 2019 in children, or pediatric COVID-19, initially was described as an acute respiratory syndrome similar to the adult presentation but with less severe manifestations. Methods: We describe the clinical characteristics, disease presentation, treatments and outcomes of all pediatric cases with COVID-19 admitted to...
Article
Full-text available
Interindividual clinical variability in the course of SARS-CoV-2 infection is immense. We report that at least 101 of 987 patients with life-threatening COVID-19 pneumonia had neutralizing IgG auto-Abs against IFN-ω (13 patients), the 13 types of IFN-α (36), or both (52), at the onset of critical disease; a few also had auto-Abs against the other t...
Article
Full-text available
Clinical outcome upon infection with SARS-CoV-2 ranges from silent infection to lethal COVID-19. We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern TLR3- and IRF7-dependent type I interferon (IFN) immunity to influenza virus, in 659 patients with life-threatening COVID-19 pneumon...
Article
Full-text available
Background: Non-febrile illness seizures may present in previously healthy children as afebrile seizures associated with minor infections, such as mild gastroenteritis or respiratory tract infections, and are linked to a genetic predisposition. For the novel human coronavirus SARS-CoV-2, causing COVID-19, fever, cough, and gastrointestinal complain...
Article
Background The neurological phenotype of 3‐hydroxyisobutyryl‐CoA hydrolase (HIBCH) and short‐chain enoyl‐CoA hydratase (SCEH) defects is expanding and natural history studies are necessary to improve clinical management. Methods From 42 patients with Leigh syndrome studied by massive parallel sequencing, we identified five patients with SCEH and H...
Article
Full-text available
Resumen Introducción El síndrome opsoclono-mioclono-ataxia es un raro trastorno de inicio pediátrico; de base neuroinflamatoria y origen paraneoplásico, parainfeccioso o idiopático. Actualmente no hay biomarcadores, siendo el diagnóstico clínico. El pronóstico cognitivo parece estar relacionado con el inicio temprano de la terapia inmunomoduladora...
Article
Full-text available
In recent years, research on sphingolipids, particularly ceramides, has attracted increased attention, revealing the important roles and many functions of these molecules in several human neurological disorders. The nervous system is enriched with important classes of sphingolipids, e.g., ceramide and its derivatives, which compose the major portio...
Article
Full-text available
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of genetic disorders with spastic paraparesis as the main clinical feature. Complex forms may co-occur with other motor, sensory, and cognitive impairment. A growing number of loci and genes are being identified, but still more than 50% of the patients remain without molecular diagnosi...
Article
Background: Investigations of myelin oligodendrocyte glycoprotein (MOG) antibodies are usually focused on demyelinating syndromes, but the entire spectrum of MOG antibody-associated syndromes in children is unknown. In this study, we aimed to determine the frequency and distribution of paediatric demyelinating and encephalitic syndromes with MOG a...
Article
Introduction: Reflex bathing seizures are described during the course of bathing in water near body temperature. These seizures differ from other epilepsies characterized by bathing-induced seizures such as hot water epilepsy, but there are few well-described patients and only some of these have been documented by ictal video-electroencephalograph...
Article
Objective Phosphomannomutase deficiency (PMM2‐CDG) causes cerebellar syndrome and stroke‐like episodes (SLEs). SLEs are also described in patients with gain‐of‐function mutations in the CaV2.1 channel, for which acetazolamide therapy is suggested. Impairment in N‐glycosylation of CaV2.1 promotes gain‐of‐function effects and may participate in cereb...
Article
Full-text available
Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting the myelin sheath. We have used whole exome sequencing in patients with undetermined leukoencephalopathies to uncover the endoplasmic reticulum lipid desaturase DEGS1 as the causative gene in nineteen patients from thirteen unrelated families. Shared feature...
Article
Introduction: PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features. Methods: Observational clinical study in a cohort of infantile and childhood onset PLAN patients and genetic analysis of the PLA2G6 gene. We analysed chronological evolution in terms of age at onset a...
Article
Full-text available
Introduction: The definition, associated aetiologies, diagnosis, and treatment of idiopathic intracranial hypertension, or pseudotumour cerebri (PTC), are constantly being revised in the paediatric population. Objectives and methods: Our study included children younger than 15 years old with PTC and attended at a reference hospital in the past 12 y...
Article
Background: Herpes simplex encephalitis can trigger autoimmune encephalitis that leads to neurological worsening. We aimed to assess the frequency, symptoms, risk factors, and outcomes of this complication. Methods: We did a prospective observational study and retrospective analysis. In the prospective observational part of this study, we includ...
Conference Paper
Full-text available
Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting the myelin sheath as the lysosomal storage disorders Krabbe and Meta- chromatic leukodystrophy, among others. Here we have used whole exome sequencing to uncover the endo- plasmic reticulum lipid desaturase DEGS1 as the cau- sative gene of a novel leukodystr...
Article
Objective: The aim of this study is to evaluate if valproate (VPA) and levetiracetam (LEV) as monotherapy are associated with vitamin D deficiency among children with epilepsy. Material & methods: A cross-sectional clinical (seizure types, aetiology of epilepsy, dosage, drug levels, and duration of AED treatment) and blood testing (calcium, phos...
Article
Introduction. Continuous spikes and waves during slow sleep (CSWS) is an epileptic encephalopathy of childhood with a pattern of epileptiform discharges during sleep, which, if prolonged over time, produce severe neuropsychological impairment. Quantification of the paroxysms by means of a spike and wave index (SWI) > 85% establishes a presumptive d...
Article
Background: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration. Methods: In this int...
Article
Objective We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement.
Article
Full-text available
Introduction: The definition, associated aetiologies, diagnosis, and treatment of idiopathic intracranial hypertension, or pseudotumour cerebri (PTC), are constantly being revised in the paediatric population. Objectives and methods: Our study included children younger than 15 years old with PTC and attended at a reference hospital in the past 1...
Article
McArdle disease is a metabolic and genetic disease due to a deficiency of an enzyme of the glycogen metabolism. We report the case of a patient of 14 years, who showed blood tests alterations preceding the clinical symptomatology.
Article
Full-text available
BACKGROUND To describe demographic factors and voice quality parameters of patients with unilateral vocal fold paralysis (UVFP) after a voice therapy protocol. METHODS Forty-seven patients with a diagnosis of UVFP by video-laryngoscopy were included. Voice therapy was applied to all patients during 15 sessions that were structured in three progres...
Article
Objectives: To investigate the long-term effectiveness of voice therapy in vocal outcomes of patients with unilateral vocal fold paralysis (UVFP) and vocal productions of patients with long-standing treatment-naïve UVFP treated with voice therapy. Study design: Prospective observational study. Methods: A voice therapy protocol was applied indi...
Article
OBJECTIVE: To report 14 patients with immune-mediated relapsing symptoms post-herpes simplex encephalitis (HSE) and to compare the clinical and immunologic features of the teenage and adult group with those of young children. METHODS: Prospective observational study of patients diagnosed between June 2013 and February 2015. Immunologic techniques h...
Article
Objective Congenital cataracts and peripheral nerve disease are described in a heterogeneous group of disorders. Other clinical features and genetic testing can guide the differential diagnosis. We present the clinical features and genetic correlation of a patient with congenital cataracts, peripheral neuropathy and associated choreoathetosis. Met...
Article
Objective We aimed to design and validate a quantitative method for clinical assessment of pantothenate kinase associated neurodegeneration (PKAN). Methods Cross-sectional multicenter study of PKAN patients recruited through professional associations. Design of a Disease Rating Scale for PKAN (PKAN-DRS) including five sub-scales: cognitive, behavi...
Article
Objectives Hypokalemic periodic paralysis (HPP) is a rare channelopathy characterized by episodes of acute muscle weakness associated with hypokalemia. The classification of this disorder is based on anamnesis, biochemical study and molecular genetic testing. Our aim is to present a patient with HPP confirmed by genetic study. Methods Case descrip...
Article
Objective Hot water is an exceptional stimulus for reflex epilepsies. Our objective is to present two cases of children with clinical features/seizures compatible with hot water epilepsy. Methods Cases description providing ictal video-EEG. Results Two Caucasian 13 month-old children, with uneventful birth and normal development, presented bouts...
Article
Objective Paroxysmal dyskinesia (PD) may present heterogeneous clinical features. Recent molecular studies have led to a new classification. We describe the different clinical and genetic features of two families with PD. Methods Clinical and genetic features description of two families with PD, from an index case. Results Case 1: a 5-year-old gi...
Article
Objective To describe clinical features, cognitive profile and pharmacological treatment of a group of children diagnosed with developmental coordination disorder (DCD). Methods We retrospectively searched for a diagnosis of DCD following DSM-IV-TR in 432 children referred to paediatric neurologist due to clumsiness, learning deficit and/or attent...
Article
Objective Different methods have been described in patients with electric status epilepticus during slow sleep (ESES) to calculate the spike-wave index (SWI). We measured the concordance between observers and SWI data using 3 methods. Methods We selected 3/10 SWI calculating methods described to apply in 17 whole night EEG recordings of children w...
Article
Full-text available
Growing skull fracture, also known as post-traumatic bone absorption or leptomeningeal cyst, is a rare complication of traumatic brain injuries and occurs almost exclusively in children under 3 years of age. We report the case of a 6-month-old child who presented, two months after an apparently unimportant traumatic skull injury, persistence of lef...
Article
Full-text available
Group A Streptococcus has been associated with ADHD, tic disorders (TD), and obsessive-compulsive disorder (OCD) through anti-basal ganglia antibodies (ABGA). We investigated the association between ABGA and streptococcal exposure with behavioral, motor, and cognitive measures in 38 children with ADHD not comorbid to OCD or TD (nc-ADHD) and in 38 h...
Article
Full-text available
Introduction: Electrical status epilepticus during sleep (ESES) is an epileptic syndrome characterised by the presence of very persistent slow spike-wave-type epileptic discharges during non-REM sleep. The management of this pathology, today, is heterogeneous and no controlled studies have been conducted with the treatments employed; similarly, wh...
Article
Full-text available
Introducción Es habitual que el niño con TDAH presente dificultades de aprendizaje en habilidades instrumentales como: lectura, escritura y/o cálculo. Estas dificultades pueden aparecer durante la etapa de infantil o de forma progresiva conforme aumenta la exigencia en los cursos aca-démicos. E n numerosas ocasiones, las difi-cultades en los aprend...
Article
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Objectives: The aim of this study is to determine the distribution of electroclinical syndromes and other epilepsies in a population-based group of children, using the newly classification proposed by the ILAE. Material & Methods: The study is based on data obtained from the review of the 454 medical records of patients with active epilepsy who wer...
Article
Objective To evaluate the dietary patterns in a group of patients diagnosed with attention deficit hyperactivity disorder (ADHD) and under treatment with extended-release methylphenidate (MPH-ER). Material and methods A nutrition survey (food intake recall for three consecutive days) was carried out on 100 patients diagnosed with ADHD and under tr...
Article
Full-text available
hereditaria con parálisis sensible a la precisión. Acta Pediatr Esp. 2014; 72(6): eXX-eXX. Acta Pediatr Esp. 2014; 72(6): eXX-eXX. ©2014 Ediciones Mayo, S.A. Todos los derechos reservados. Plexopatía braquial unilateral en un lactante como manifestación precoz de una neuropatía hereditaria con parálisis sensible a la presión Resumen La neuropatía h...