Descriptive study of symptomatic epilepsy by age of onset in patients with a 3-year follow-up at the Neuropaediatric Department of a reference centre. / Estudio descriptivo de las epilepsias sintomáticas según edad de inicio controladas durante 3 años en una Unidad de Neuropediatría de referencia regional.

OBJECTIVE: We conducted a descriptive study of symptomatic epilepsy by age at onset in a cohort of patients who were followed up at a neuropaediatric department of a reference hospital over a 3-year period PATIENTS AND METHODS: We included all children with epilepsy who were followed up from January 1, 2008 to December 31, 2010 RESULTS: Of the 4595 children seen during the study period, 605 (13.17%) were diagnosed with epilepsy; 277 (45.79%) of these had symptomatic epilepsy. Symptomatic epilepsy accounted for 67.72% and 61.39% of all epilepsies starting before one year of age, or between the ages of one and 3, respectively. The aetiologies of symptomatic epilepsy in our sample were: prenatal encephalopathies (24.46% of all epileptic patients), perinatal encephalopathies (9.26%), post-natal encephalopathies (3.14%), metabolic and degenerative encephalopathies (1.98%), mesial temporal sclerosis (1.32%), neurocutaneous syndromes (2.64%), vascular malformations (0.17%), cavernomas (0.17%), and intracranial tumours (2.48%). In some aetiologies, seizures begin before the age of one; these include Down syndrome, genetic lissencephaly, congenital cytomegalovirus infection, hypoxic-ischaemic encephalopathy, metabolic encephalopathies, and tuberous sclerosis. CONCLUSIONS: The lack of a universally accepted classification of epileptic syndromes makes it difficult to compare series from different studies. We suggest that all epilepsies are symptomatic because they have a cause, whether genetic or acquired. The age of onset may point to specific aetiologies. Classifying epilepsy by aetiology might be a useful approach. We could establish 2 groups: a large group including epileptic syndromes with known aetiologies or associated with genetic syndromes which are very likely to cause epilepsy, and another group including epileptic syndromes with no known cause. Thanks to the advances in neuroimaging and genetics, the latter group is expected to become increasingly smaller.

[Changes in the demand for paediatric neurology care in a spanish tertiary care hospital over a 20-year period]. / Evolución de la demanda asistencial neuropediátrica en un hospital español de tercer nivel a lo largo de 20 años.

OBJECTIVE: The purpose of this study is to determine the profile of the demand for paediatric neurology care in a Spanish tertiary hospital over the past 20 years. METHOD: We studied epidemiological data, reasons for consultation, diagnoses and complementary tests from all patients examined by our Paediatric Neurology Unit in its 20 years of service (from May 1990 to March 2010). We also reviewed data from patients whose first visit took place within the last five years (2005-2010) and compared them to data obtained from a prior study carried out in this Unit from 1990 to 1995. To compare the first 5 years (group 1) with the last 5 years (group 2), we calculated confidence intervals, P<.05, for the frequency distribution (%) in each category. RESULTS: Main reasons for consultation and principal diagnoses for the 12726 patients evaluated in the 20-year period, as well as results from group 1 (2046 patients) and group 2 (4488 patients) corresponding to first and the last 5 years of activity respectively, are presented with their confidence intervals in a series of tables. CONCLUSIONS: Variations in the reasons for consultation, diagnoses and complementary tests over time reflect changes determined by medical, scientific and social progress, and organisational changes specific to each hospital. This explains the difficulty of comparing different patient series studied consecutively, which are even more pronounced between different hospitals.

Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010.

INTRODUCTION: Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. MATERIAL AND METHOD: We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010. RESULTS: During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID. DISCUSSION: The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors') queries, and halt further diagnostic studies.

Prenatal encephalopathies of unknown origin. Our 19-years experience. To what extent must genetic and biochemical studies be carried out?

INTRODUCTION: We examine those prenatal encephalopathies with clinical or neuroimaging data of encephalopathy before the birth. They affect a significant number of children seen by paediatric neurologists. They can be of disruptive origin (due to vascular problems, drugs, toxins or congenital infections), and genetically determined. We include cases of autism spectrum disorder and mental retardation with no history of perinatal of postnatal damages. MATERIAL AND METHODS: We analysed our 19 year neuro-paediatric data base in search of prenatal encephalopathies and their diagnostic origin. We also analyse the studies made in the cases with a diagnosis of unknown origin. RESULTS: The 19 year period of study in the data base included 11,910 children, and 1596 (13.5%) were considered as prenatal encephalopathies; 1307 children (81.4%) had a diagnosis of unknown origin, despite many investigations being done in a large number of them. DISCUSSION: Most of the children included in this study suffer a rare disease, and whether they are identified or not, they increasingly require an early diagnosis. Peroxisomal, mitochondrial, lysosomal diseases, carbohydrate glycosylation deficiency syndrome and other inborn error of metabolism, congenital infections and genetic encephalopathies, can be clinically indistinguishable in early life and require specific studies to identify them. Early diagnosis requires strategies using step-wise systematic studies, giving priority to those diseases that could be treated, and in many cases using an individualised approach. We believe that the potential benefits of early diagnosis, including savings on further studies, genetic counselling and prenatal diagnosis, overcome the financial costs.

Optic neuritis in paediatric patients: Experience over 27 years and a management protocol. / Neuritis óptica en pediatría: experiencia en 27 años y protocolo de actuación.

INTRODUCTION AND OBJECTIVE: In this article, we present our experience on optic neuritis (ON) and provide a diagnostic/therapeutic protocol, intended to rule out other aetiologies (particularly infection), and a fact sheet for parents. MATERIAL AND METHODS: We conducted a descriptive, retrospective study of patients with ON over a 27-year period (1990-2017). A review of the available scientific evidence was performed in order to draft the protocol and fact sheet. RESULTS: Our neuropaediatrics department has assessed 20,744 patients in the last 27 years, of whom 14 were diagnosed with ON: 8 had isolated ON, 1 had multiple sclerosis (MS), 1 had clinically isolated syndrome (CIS), 3 had acute disseminated encephalomyelitis, and 1 had isolated ON and a history of acute disseminated encephalomyelitis one year previously. Patients' age range was 4-13 years; 50% were boys. Eight patients were aged over 10: 7 had isolated ON and 1 had MS. Nine patients had bilateral ON, and 3 had retrobulbar ON. MRI results were normal in 7 patients and showed involvement of the optic nerve only in 2 patients and optic nerve involvement + central nervous system demyelination in 5. Thirteen patients received corticosteroids. One patient had been vaccinated against meningococcus-C the previous month. Progression was favourable, except in the patient with MS. A management protocol and fact sheet are provided. CONCLUSIONS: ON usually has a favourable clinical course. In children aged older than 10 years with risk factors for MS or optic neuromyelitis (hyperintensity on brain MRI, oligoclonal bands, anti-NMO antibody positivity, ON recurrence), the initiation of immunomodulatory treatment should be agreed with the neurology department. The protocol is useful for diagnostic decision-making, follow-up, and treatment of this rare disease with potentially major repercussions. The use of protocols and fact sheets is important.

[Benign intracranial hypertension: experience over 18 years]. / Hipertensión intracraneal benigna. Experiencia en 18 años.

INTRODUCTION: There are transient intracranial hypertension cases, recognizable by bulging fontanelle in infants and by papilloedema in children. We present our experience in benign intracranial hypertension (BIH) cases, excluding traumatic brain injuries, encephalitis and meningitis. RESULTS: Among the entire neuropaediatric database, with 10,720 children in 18 years, 31 cases had the diagnosis of BIH. Sixteen aged between 2.3 and 8.9 months (75% males), all of them with transient bulging fontanelle, and 15 aged between 4.4 and 13.7 years (73.3% females), all of them with papilloedema which was subsequently resolved. A total of 75% of infants had recently finished corticosteroid treatment for bronchitis. In the older children, there was 1 case associated with excessive vitamin A intake and 1 mastoiditis. Transfontanelle ultrasonography or CT was performed on all infants and CT or MRI in every child. Lumbar puncture was also performed on 7 infants and on 13 children. Infants developed favourably in a few days, and children did so between 1 week and 5 months, some with treatment. DISCUSSION: BIH usually has a favourable outcome, although it may take longer in children than in infants, but it can have serious visual repercussions, even blindness, so ophthalmological control is necessary. It is normally diagnosed by exclusion of other intracranial hypertension causes. MRI and lumbar puncture must be done on all children or infants who do not progress favourably. Acetazolamide and furosemide, corticosteroids, repeated lumbar punctures and optic nerve sheath fenestration should be considered in those who do not progress well.

[Neurofibromatosis type 1 and attention-deficit disorder. Our current experience]. / Neurofibromatosis tipo 1 y trastorno por deficit de atencion. Nuestra experiencia actual.

INTRODUCTION: Patients with neurofibromatosis type 1 (NF1) have a high predisposition to develop attention-deficit disorder. The aim of this study is to determine the prevalence of NF1 patients with attention-deficit/hyperactivity disorder (ADHD) diagnosis attending our Child Neurology Department. We assess patient adherence and medical treatment outcomes. PATIENTS AND METHODS: Identification of patients with NF1 being followed up from December 31 2015 to June 31 2017 with ADHD diagnosis. Clinical and treatment data were collected. RESULTS: 56 patients with NF1 were enrolled in the study with a mean age of 9.83 ± 4.17 years. 23 patients (41%) were diagnosed with ADHD, mean age at ADHD diagnosis of 7.53 ± 2.46 years. School-age children with ADHD represented 48.8% of cases. All but one of the children received treatment, mean duration of treatment was 3.85 ± 3.04 years. 19 out of 22 patients (86%) continue medical treatment. Positive effects were reported by eleven patients with a moderate response in eight patients. CONCLUSIONS: Prevalence of ADHD in patients with NF1 is high. Early diagnosis and treatment of ADHD in patients with NF1 is highlighted by this study. Our study reveals good patient adherence and medical treatment outcomes in most patients.

TITLE: Neurofibromatosis tipo 1 y trastorno por deficit de atencion. Nuestra experiencia actual.Introduccion. Los pacientes con neurofibromatosis de tipo 1 (NF1) tienen una gran predisposicion a desarrollar deficit de atencion. El objetivo del estudio es determinar los pacientes controlados en nuestra seccion de neuropediatria con NF1 y diagnostico de trastorno por deficit de atencion/hiperactividad (TDAH), valorando la adhesion y respuesta al tratamiento. Pacientes y metodos. Se identifica a los pacientes afectos de NF1 que siguen controlados entre el 31 de diciembre de 2015 y el 31 de junio de 2017, y de ellos, los que presentan diagnostico de TDAH, revisando datos clinicos y de tratamiento. Resultados. Se ha controlado a 56 pacientes afectos de NF1, con una edad media de 9,83 ± 4,17 años. De ellos, 23 (41%) presentan diagnostico clinico de TDAH, con una edad media de 7,53 ± 2,46 años en el momento del diagnostico. El 48,8% de los niños en edad escolar esta afecto de TDAH. Todos los pacientes menos uno recibieron tratamiento con estimulantes, con un tiempo medio de tratamiento de 3,85 ± 3,04 años. Continuan con el tratamiento 19 pacientes de los 22 tratados (86%). Once casos refieren una clara mejoria, y ocho, una mejoria moderada. Conclusiones. El TDAH es muy prevalente en niños con NF1. Se destaca la importancia de la identificacion y el tratamiento del TDAH en niños afectos de NF1. Nuestra revision muestra una buena adhesion al tratamiento con estimulantes, con mantenida buena respuesta en la mayor parte de los casos.

Acute cerebellitis in paediatric patients: Our experience. / Cerebelitis aguda en Pediatría: nuestra experiencia.

INTRODUCTION: Acute cerebellitis is a rare inflammatory disease with a highly variable clinical course that ranges from benign self-limiting symptoms to a fulminant presentation associated with a high risk of death due to compression of the posterior fossa, acute hydrocephalus, and intracranial hypertension. METHODS: We reviewed clinical, laboratory, and radiological findings from children diagnosed with acute cerebellitis between May 2007 and November 2016. We analysed treatments and clinical and radiological progression. RESULTS: Nine children met the diagnostic criteria for cerebellitis. Headache, vomiting, and drowsiness were the most frequent initial symptoms; ataxia, dysarthria, and dysmetria were the most common cerebellar signs. Cerebellitis was diagnosed with magnetic resonance imaging, which revealed cerebellar involvement (unilateral or bilateral); computerised tomography images either were normal or showed indirect signs such as triventricular hydrocephalus due to extrinsic compression of the aqueduct of Sylvius. Corticosteroids were the most commonly used treatment (6 patients). One patient required surgery due to triventricular hydrocephalus. Eight patients recovered completely, whereas the ninth displayed neurological sequelae. CONCLUSIONS: Cerebellitis is a medical and surgical emergency; diagnosis requires a high level of suspicion and an emergency brain magnetic resonance imaging study. It is a clinical-radiological syndrome characterised by acute or subacute encephalopathy with intracranial hypertension and cerebellar syndrome associated with T2-weighted and FLAIR hyperintensities in the cerebellar cortex (unilaterally or bilaterally) and possible triventricular dilatation. Treatment is based on high-dose corticosteroids and may require external ventricular drain placement and decompressive surgery.

[A descriptive study of non-symptomatic epilepsy according to age at onset at a Neuropediatric Section of regional reference]. / Estudio descriptivo de las epilepsias no sintomaticas segun la edad de inicio en una unidad de neuropediatria de referencia regional.

AIM: A descriptive study of non-symptomatic epilepsy (idiopathic and cryptogenic), according to age at onset, monitored at a Neuropediatric Section of regional reference over a period of three years. PATIENTS AND METHODS: A review of neuropediatric database medical records of children with non-symptomatic epilepsy supervised from Jan 1, 2008 till December 31, 2010. RESULTS: Of the 4595 children attended during the period, 605 were diagnosed with epilepsy (13.17%): 156 (25.79%) idiopathic epilepsies and 172 (28.43%) cryptogenic epilepsies. The average age at onset of the total was 4.78 years: 6.31 years in idiopathic epilepsies and 5.43 years in cryptogenic epilepsies. 26.12% of all the epilepsies began in the first year of life. Idiopathic epilepsy predominates in the startup group of 6-10 years and cryptogenic epilepsy in 3-6 years. Absence epilepsy and benign childhood epilepsy with centro-temporal spikes are the idiopathic epileptic syndromes most prevalent. CONCLUSIONS: Many differences exist among published epidemiological data on childhood epilepsy due to the difficulty of a syndromic diagnosis in children, caused by clinical and electroencephalographic variability. The absence of a universally accepted classification of epileptic syndromes makes it difficult to compare publications. All epilepsies are symptomatic as they have a cause, whether it be genetic or acquired. A useful classification would be etiological, with two groups: one large with established etiology or very likely genetic syndromes and another with no established cause. The age at onset indicates specific etiologies.

TITLE: Estudio descriptivo de las epilepsias no sintomaticas segun la edad de inicio en una unidad de neuropediatria de referencia regional.Objetivo. Estudio descriptivo de las epilepsias no sintomaticas (idiopaticas y criptogenicas), segun la edad de inicio, controladas en una unidad de neuropediatria de referencia regional durante tres años. Pacientes y metodos. Revision de historias de niños con epilepsia no sintomatica de la base de datos de neuropediatria controlados del 1 de enero de 2008 al 31 de diciembre de 2010. Resultados. De 4.595 niños atendidos en el periodo, se diagnosticaron de epilepsia 605 (13,17%), de las cuales 156 (25,79%) fueron idiopaticas, y 172 (28,43%), criptogenicas. La edad media de inicio del total fue de 4,78 años; 6,31 años en las idiopaticas y 5,43 años en las criptogenicas. El 26,12% del total de epilepsias se inicio en el primer año. Las epilepsias idiopaticas predominan en el grupo de inicio de 6-10 años, y las criptogenicas, en el de 3-6 años. La epilepsia de ausencias y la epilepsia benigna de la infancia con paroxismos centrotemporales son los sindromes epilepticos idiopaticos mas prevalentes. Conclusiones. Existen muchas diferencias de datos epidemiologicos publicados sobre epilepsia infantil por la dificultad que entraña un diagnostico sindromico en la edad pediatrica, debido a la variabilidad clinica y electroencefalografica. La ausencia de una clasificacion universalmente aceptada de los sindromes epilepticos dificulta comparaciones entre series. Todas las epilepsias son sintomaticas, puesto que tienen causa, sea genetica o adquirida. Una clasificacion util es la etiologica, con dos grupos: un gran grupo con las etiologias establecidas o sindromes geneticos muy probables y otro de casos sin causa establecida. La edad de inicio orienta a determinadas etiologias.

[Familial MECP2 duplication syndrome]. / Síndrome de duplicación MECP2 familiar.

TITLE: Síndrome de duplicación MECP2 familiar.

[Neurofibromatosis 1 and multiple familial cavernomatosis in an infant with episodic profuse sialorrhoea]. / Neurofibromatosis 1 y cavernomatosis multiple familiar en un lactante con sialorrea profusa episodica.

TITLE: Neurofibromatosis 1 y cavernomatosis multiple familiar en un lactante con sialorrea profusa episodica.

[Prader-Willi and Angelman syndromes: 21 years of experience]. / Síndromes de Prader-Willi y de Angelman. Expriencia de 21 años.

INTRODUCTION: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) were the first syndromes in humans that were known to originate from the phenomenon of the genomic imprinting. We review our experience of 21 years with PWS and AS that were confirmed with the genetically. RESULTS: Of the 13,875 patients recorded during the study period, 11 were diagnosed with PWS (18%), 7 males (63.6%) and 4 females (36.4%), with a mean age of 9.06 years (+/- 6.92, range: 0.68-21.6). The time of the follow up of this group was 3.83 years (+/- 4.03, range: 0.49-15.3), and the age at diagnosis was 4.4 years (+/- 6.84, range: 0.03-19.38). Almost three quarters (72.7% of the PWS patients had a uniparental dysomy and 27.3% a paternal deletion. Six patients (8%) were diagnosed with AS, 4 females (66.6%) and 2 males (33.4%), with a mean age of 14.65 years (+/- 11.89, range: 1.3-30.7). The time of follow up was 6.76 years (+/- 5.89,range: 0.16-15), and the age at diagnosis was 8.84 years (+/- 9.11, range: 1.10-23). A maternal deletion was present in 83.3% of the AS patients and 16.7% had a maternal dysomy. DISCUSSION: As genetic advances are made these pathologies are confirmed before. Unlike the data in the literature, in our series most patients diagnosed with PWS (72'3%) had uniparental disomy. Recent studies correlation genotype with phenotype, in PWS is more serious if it occurs a deletion and in SA is milder in the case of uniparental disomy. CONCLUSIONS: Genetic studies must be performed in view of the established clinical symptoms: neonatal hypotonia of unknown cause in PWS and psychomotor deficits with autism features, particularly associated with epilepsy, must be evaluated in AS to prevent diagnostic uncertainties, unnecessary complementary examinations and to provide early genetic counselling.

[Continuous monitoring of a guideline: Bell's palsy]. / Monitorización continua de un protocolo: parálisis facial a frigore.

INTRODUCTION: The preparation and review of child neurology guidelines can reduce the variability of our medical practice, thus improving health care. We present the continuous monitoring of our Bell's palsy guideline. MATERIAL AND METHODS: Emergency and medical reports of the children seen in Child Neurology surgery from July 2006 to August 2009 (group 2) are reviewed for the purpose of finding out the present level of compliance with guideline quality criteria and compare it with the previously reviewed period (group 1, from March 2003 to June 2006). Scientific evidence on this topic is also updated. RESULTS: Comparing the compliance rate in group 1 with group 2 shows a rise in group 2 from 85.1% to 100% in facial expression description, from 11.1% to 31.6% on whether or not there is evidence of Herpes Zoster vesicles, from 77.7% to 84.2% whether or not there is evidence fundoscopic examination, and from 77.7% to 86.8% as regards cranial nerve function remaining normal. The rate of fact sheet issue, recorded for the first time in group 2, is 21.1%. DISCUSSION: Medical auditing allows us to evaluate our medical practice and set up ways for improvement according to the deficiencies found. We insist on striving to improve the written record of the most relevant data and never overlook the importance of issuing the fact sheets to parents and paediatricians, to ensure continuity of medical care.