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Castro-Gago M.,Servicio de Neuropediatria | Dacruz-Alvarez D.,Servicio de Neuropediatria | Pintos-Martinez E.,Hospital Clinico Universitario | Beiras-Iglesias A.,Hospital Clinico Universitario | And 8 more authors.
European Journal of Paediatric Neurology | Year: 2014

Background Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, but never in patients with an additional combined deficiency of complexes I, III and IV and mitochondrial DNA (mtDNA) depletion. Aims To report mutations in carry genes for MDCMC with respiratory chain defects and mtDNA depletion.Methods Whole-exome sequencing (WES) was used to identify the carry genes in a Spanish child with muscle weakness, mild hypotonia at lower limb muscles, mildly elevated creatine kinase (CK), enlarged mitochondria in the periphery of the fibers, combined deficiency of complex I, III and IV and depletion of mtDNA.Results With WES data, it was possible to get the whole mtDNA sequencing and discard any pathogenic variant in this genome. The first filter of WES data with the nuclear-encoded mitochondrial genes (MitoCarta) did not get any candidate. However, the analysis of whole exome uncovered a homozygous nonsense pathogenic mutation in CHKB gene (NM-005198.4:c.810T>A, p.Tyr270∗).Conclusions Our data confirm the role of CHKB in MDCMC and point to this gene as unique candidate for the combined deficiency of respiratory chain and mtDNA depletion observed in this patient. © 2014 European Paediatric Neurology Society.


Bueno Barriocanal M.,Hospital la Paz | Ruiz Jimenez M.,Hospital Of Getafe | Ramos Amador J.T.,Hospital Of Getafe | Soto Insuga V.,Servicio de Neuropediatria | And 2 more authors.
Anales de Pediatria | Year: 2013

Background and aims: The present study focuses on the epidemiology, clinical and laboratory data, and management of osteomyelitis in a pediatric third level hospital. Methodology: All cases of children under 15 years-old admitted with osteomyelitis between 2000 and 2011 were retrospectively reviewed until July 2006, then prospectively from then until 2011. Results: A total of 50 patients were identified (52% males) with median age at diagnosis of 2 years. Principal onset manifestations were pain (94%), functional impairment (90%) and fever (72%). The femur (32%), fibula (28%) and calcaneus (22%) were most affected bones. Leucocytosis > 12.000/l was found in 56%, elevated ESR > 20 mm/h in 26%, and elevated CRP > 20 mg/L in 64%. Blood culture was positive in 20%, with group A streptococcus being the most frequently isolated bacteria (11%). All diagnoses were confirmed by a 99Tc scintigraphy bone scan. Antibiotic therapy was initially intravenously (mean time of administration: 10 days ± 3 SD), followed by oral medication (mean time of administration: 18 days ± 6 SD). Surgery was necessary in 3 patients. Evolution of all cases was excellent, despite 3 exceptions that resolved over time. Conclusions: The current short-term intravenous therapy led to shorter hospitalizations. There were no statistically significant differences between time from clinical onset or in CRP levels at discharge compared to long-term therapies prior to 2006. © 2012 Asociacion Española de Pediatria. Published by Elsevier España, S.L. All rights reserved.


Perez-Villena A.,Servicio de Neuropediatria | Lopez-Marin L.,Servicio de Neuropediatria | Cantarin-Extremera V.,Servicio de Neuropediatria | Leon-Gonzalez M.,Servicio de Neuropediatria | And 2 more authors.
Revista de Neurologia | Year: 2011

Introduction. Panayiotopoulos syndrome (PS) is one of the benign epilepsies found in childhood. Some papers have shown that patients can present behavioural disorders and learning difficulties. Aims. To review patients diagnosed with PS in our hospital and to check whether they display evidence of such disorders and if there is any specific feature that allows high-risk patients to be identified. Patients and methods. A retrospective review of the medical records of patients diagnosed with PS was carried out. An electroencephalogram (EEG) or video-EEG-polygraph recordings were performed on all patients during sleep. The Weschler Intelligence Scale for Children was used to evaluate intelligence. Results. Data were collected for 33 patients, 17 of whom were children. The mean age at onset was 3.2 years and the follow-up was 4.9 years (range: 1-12 years). Irritative EEG phenomena were detected in the occipital (67.7%), temporal (45.2%) or parietal regions (22.5%) in 31 patients. Furthermore, 72.7% of patients presented more than two seizures. Twenty-three patients required treatment with antiepileptic drugs. Two patients were diagnosed with attention deficit hyperactivity disorder. Additionally, 30.3% reported dispersed attention and 27.3% had an impulsive character. It was found that 51.1% had a good level of academic achievement, in 26.5% it was regular and in 17.6% poor. A total of 39.4% needed assistance in the form of after-school classes. The level of intelligence was evaluated in 11 patients. Conclusion. PS is a condition with a good prognosis, but seems to be associated to learning and behavioural disorders. © 2011 Revista de Neurología.


Martinez-Albaladejo I.,Servicio de Neuropediatria | Prochazkova M.,Servicio de Neuropediatria | Perez-Sebastian I.,Servicio de Neuropediatria | Bernardino-Cuesta B.,Servicio de Neuropediatria | And 5 more authors.
Revista de Neurologia | Year: 2016

Introduction. Syringomyelia is defined as a cavity containing cerebrospinal fluid inside the spinal cord. Aim. To describe the clinical characteristics of a series of patients with syringomyelia, as well as its diagnosis and treatment. Patients and methods. We conducted a retrospective descriptive study by reviewing the medical records at our centre. Results. We reviewed 25 patients diagnosed with syringomyelia. In five cases, the diagnosis was reached casually, and eight of them presented a previous severe pathology (tumour, bone or vascular). Two patients began with hydrocephalus and clinical signs and symptoms of intracranial hypertension and just two of them reported headaches as the only symptom. Four presented progressive scoliosis, two of them as the initial complaint, and required surgery with arthrodesis and the use of a corset, respectively. A notable feature was the earliness of the diagnosis. Most of them only presented a slight loss of strength, with normal somatosensory potentials and electromyogram. Check-ups were carried out with magnetic resonance. Eight patients required a decompressive craniectomy with posterior C1-C2 laminectomy, with drainage of the syringomyelic cavity in four cases. Nine of them required a bypass valve and a ventriculostomy also had to be performed in two of them. Conclusions. The presence of syringomyelia is rare in paediatric patients, and is generally associated with malformations in the posterior fossa and a medical history of spinal dysrhaphism. Progressive scoliosis stands out as a possible isolated manifestation. A multidisciplinary approach with regular radiological check-ups and evaluation by paediatric neurology and neurosurgery services are mandatory for its follow-up. © 2016 Revista de Neurología.


Aim. To determine whether attention deficit hyperactivity disorder (ADHD) is associated with other prevalent medical pathologies of the paediatric age. Development. Several paediatric pathologies were selected with the aim of reviewing their association with ADHD: in paediatric pulmonology, asthma and other allergic processes; in paediatric neurology, headache and febrile seizures; in paediatric gastroenterology, diarrhoea, constipation, abdominal pain, gastroesophageal reflux and infection by Helicobacter pylori; in paediatric nephrology, enuresis; in paediatric cardiology, bruits and congenital heart disease; in paediatric endocrinology, thyroid disorders and obesity; and in paediatric ophthalmology, ametropia and strabismus. Conclusions. Several studies were found that related ADHD with allergic processes, overweight/obesity, peripheral resistance to thyroid hormone, enuresis, febrile seizures, headache, congenital heart disease, ophthalmic disorders and tooth decay, with some controversial issues and details still to be defined. It can be concluded that further interdisciplinary studies are needed to clarify the associations and underlying mechanisms involved, so as to be able to gain a deeper understanding of the complex entity of ADHD and to suggest preventive, diagnostic and therapeutic interventions with regard to its comorbidities. © 2015 Revista de Neurología.


Fuentes-Pita P.,Servicio de Neuropediatria | Gomez-Lado C.,Servicio de Neuropediatria | Dacruz D.,Servicio de Neuropediatria | Eiris-Punal J.,Servicio de Neuropediatria | And 2 more authors.
Revista de Neurologia | Year: 2016

Introduction. The vagus nerve stimulator is a therapeutic alternative in patients with epilepsy which is refractory to treatment with antiepileptic drugs that are not candidates for surgical resection. Aim. To analyse the effectiveness of vagus nerve stimulator in the paediatric patients of our centre. Patients and methods. Set of 13 patients implanted between 2008 y 2013. It was registered the frequency of crises prior to implantation, after a year and at the end of the monitoring period. As well, it was recorded the number of antiepileptic drugs used and in a qualitative way the behavioural improvement and the change in the intensity of the crises, besides the apparition of secondary effects and the removal or not of the device. Results. After a year, two years and at the end of the monitoring period it has been a fall in the number of crises about of 61%, 66.7% y 69% respectively, finding one patient free of crises after two years. At the end of the monitoring period, the 23% of those who had reduced their crises had experimented a reduction over 90%. Independently the effect on the number of crises, 77% of the patients presented an improvement in the intensity and the length of the crises, the same average showed a behavioural improvement. The secondary effects appeared in a 30.7% of the patients, being of mild intensity. Conclusions. Despite the small size of our sample, our results shows that the vagus nerve stimulator has a relevant efficacy over the pediatric drug resistant population, as much in the frequency and intensity of the crises, as over the behaviour. © 2016 Revista de Neurología.


Garcia-Huerta L.G.,Servicio de Neuropediatria | Gutierrez-Moctezuma J.,Servicio de Neuropediatria | Solorzano-Gomez E.,Servicio de Neuropediatria
Revista Mexicana de Neurociencia | Year: 2012

Introduction: A clear definition of frontal lobe epilepsy (FLE) has not yet been established. Lugaresi and Cirignotta in 1981 first described FLE as paroxysmal motor attacks during sleep in healthy subjects. Objective: To describe the narrative of the clinical characteristics of the patient event, to classify the subtype of seizures that correspomnd to FLE. Methods: This is a descriptive, transversal and prolective study. A revision was made of the database of patients with clinically probable FLE. Videoelectroencephalogram (videoEEG) was performed in all cases. A total of 6 EEG were collected for these analysis, data from medical records were supplemented by parents interview. Once videoEEG was obtained, a minucious evaluation by a neurophysiologist blinded to clinical information was performed, for bioelectric analysis. Results: We included 14 children aged 4-16 years. Among them, 13 were valid cases and 1 was a case of parasomnia. While a parent (7.7%) provided a description of supplementary motor area, videoEEG results showed an anterior frontopolar origin. Among the accounts of paroxysmal arousals, the most common foci corresponded to anterior frontopolar (7.7%), dorsolateral (7.7%), motor cortex (7.7%), nocturnal paroxysmal dystonia (15.3%) and paroxysmal arousals (46.1%). A 7.7% provided a description of nocturnal paroxysmal dystonia, reflecting an anterior frontopolar origin. Clinical semiology based on the parents' narration had a sensitivity of 77% and specificity of 28%. Conclusion: In spite of the usefuleness of the observator's narrations, videoEEG is necessary to establish a diagnosis of certainty in FLE.

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