[Withdrawal and reintroduction of pharmacological treatment of epilepsy in paediatric patients. Our experience]. / Retirada y reintroducción del tratamiento farmacológico de la epilepsia en pacientes pediátricos. Nuestra experiencia.

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 RESULTS: Twenty-three of 57 children whose treatment was withdrawn are currently being administered the treatment as a monotherapy. Attempts at withdrawal were made with 17 patients, with a mean seizure-free period of 26 months; range: 8-47 months (excluding one patient who never stopped presenting seizures). Mean age at the time of the last known data: 16 years; range: 7-28 years. Average time until the first seizure after withdrawal: 12 months; range: 1-82 months. Seizures persist despite the current treatment administered in eight cases. Two or three attempts to withdraw treatment were made in six patients, with a mean seizure-free period of 28.6 months; range: 22-48 months. Mean age at the time of the last known data: 18.68 years; range: 13-37 years. Average time until the first seizure after withdrawal: 8.2 months; range: 1-30 months. They presented seizures after treatment four was reintroduced. 52% of the patients presented seizures while receiving the drug, which was discontinued. The treatment was withdrawn in cases meeting criteria for persistent seizures: three refractory epilepsies, five symptomatic focal epilepsies, four cases with intellectual disability, five adolescent-onset epilepsies, and failures in previous withdrawal in 23 cases and 30 attempts. CONCLUSION: The decision to withdraw treatment must be personalised, and consider the risk of relapse, taking into account efficacy and tolerability, and behaviour and neurodevelopment in particular.

TITLE: Retirada y reintroducción del tratamiento farmacológico de la epilepsia en pacientes pediátricos. Nuestra experiencia.Introducción. Existen muchas variables que se deben considerar en la retirada del tratamiento anticrisis epilépticas, que precisa una evaluación riesgo-beneficio. Pacientes y métodos. Estudio retrospectivo en pacientes de una consulta de neuropediatría que precisaron reintroducir el tratamiento de la epilepsia tras su retirada inicial y continúan con fármacos anticrisis epilépticas. Resultados. De 57 niños a quienes se les retiró el tratamiento, 23 lo llevan actualmente, todos en monoterapia. En 17 se realizó un intento de retirada, con tiempo medio previo sin crisis de 26 meses; rango: 8-47 meses (excluido uno que nunca dejó de presentarlas). Edad media en el momento de los últimos datos conocidos: 16 años; rango: 7-28 años. Tiempo medio hasta nueva crisis tras retirada: 12 meses; rango: 1-82 meses. En ocho casos persisten crisis pese al tratamiento actual. En seis se realizaron 2-3 intentos, con un tiempo medio previo sin crisis de 28,6 meses; rango: 22-48 meses. Edad media en el momento de los últimos datos conocidos: 18,68 años; rango: 13-37 años. Tiempo medio hasta nueva crisis tras retirada: 8,2 meses; rango: 1-30 meses. Presentaron crisis una vez reintroducido el tratamiento cuatro. Había presentado crisis recibiendo el fármaco que se suspendió, el 52%. Se retiró el tratamiento a casos con criterios de persistencia de crisis: tres epilepsias refractarias, cinco focales sintomáticas, cuatro con discapacidad intelectual, cinco epilepsias de inicio en la adolescencia, y en 23 casos y 30 intentos fallidos en la retirada previa. Conclusión. La decisión de retirada debe ser individualizada, conociendo el riesgo de recaída, atendiendo a la eficacia y la tolerabilidad, especialmente el comportamiento y el neurodesarrollo.

[Epilepsy and inborn errors of metabolism]. / Epilepsia y errores congénitos del metabolismo.

INTRODUCTION: Epilepsy is a common manifestation in inborn errors of metabolism, with varying degrees of severity and response to treatment. OBJECTIVE: To determine its incidence and characteristics in metabolic diseases. MATERIAL AND METHODS: A retrospective review of neuropaediatric and metabolic databases was performed. Data on the type of epilepsy, age of onset and refractoriness were collected. RESULTS: Two cases out of three (66%) with molybdenum cofactor deficiency and neonatal epileptic encephalopathy; three with vitamin-sensitive epilepsies: pyridoxamine sulphate oxidase deficiency, antichitin and biotinidase deficiency, early onset and good seizure control with biotin; one with homocystinuria, with late onset and polytherapy; one with Menkes disease difficult to control; two with GLUT-1 deficiencies with absent and generalized discharges in the electroencephalogram; five (33%) peroxisomes in monotherapy, except for a suspected peroxisome biogenesis deficiency; 13 (34%) lysosomal deficiencies; a glycosylation disorder, with infantile and refractory spasms; seven (8.5%) organic aminoacidopathies and acidurias, one with infantile spasms (propionic acidemia), three with nonketotic hyperglycinemia with neonatal epileptic encephalopathy, one with monotherapy (leukinosis) and two (3.3%) with unscreened hyperphenylalaninemia; and five (20%) mitochondrial, most of which had oxidative phosphorylation deficiencies. CONCLUSIONS: The diagnosis of metabolic epilepsy requires a high level of suspicion in unscreened diseases. The semiology of the seizures and the electrocardiogram data are not characteristic, but some clinical data may provide guidance, such as early onset and refractoriness, neuroimaging and some biochemical markers. Although genetic studies are increasingly cost-effective in epilepsy, we must continue to search for earlier biomarkers and test targeted therapeutic trials.

TITLE: Epilepsia y errores congénitos del metabolismo.Introducción. La epilepsia es una manifestación común en los errores congénitos del metabolismo, con gravedad y respuesta al tratamiento variables. Objetivo. Determinar su incidencia y características en enfermedades metabólicas. Material y métodos. Se trata de una revisión retrospectiva de bases de datos de neuropediatría y metabolismo. Los datos recogidos son tipo de crisis, edad de inicio y refractariedad. Resultados. Dos casos de tres (66%) con defecto del cofactor del molibdeno y encefalopatía epiléptica neonatal; tres epilepsias sensibles a las vitaminas: déficit de piridoxamina sulfato oxidasa, déficit de antiquitina y de biotinidasa, de comienzo precoz y buen control de crisis con biotina; una homocistinuria, con inicio tardío y politerapia; una enfermedad de Menkes de difícil control; dos déficits de GLUT-1 con ausencias y descargas generalizadas en el electroencefalograma; cinco (33%) peroxisomales en monoterapia, salvo una sospecha de déficit de biogenia de peroxisomas; 13 (34%) lisosomales; un trastorno de la glucosilación, con espasmos infantiles y refractario; siete (8,5%) aminoacidopatías/acidurias orgánicas, uno con espasmos infantiles (acidemia propiónica), tres con hiperglicinemias no cetósicas con encefalopatía epiléptica neonatal, uno con monoterapia (leucinosis) y dos (3,3%) con hiperfenilalaninemias no cribadas; y cinco (20%) mitocondriales, la mayoría con déficit de la fosforilación oxidativa. Conclusiones. El diagnóstico de epilepsia metabólica precisa un alto índice de sospecha en enfermedades no cribadas. La semiología de las crisis y los datos en el electroencefalograma no son característicos, pero algunos datos clínicos, como el inicio precoz y la refractariedad, de neuroimagen y ciertos marcadores bioquímicos pueden orientar. Aunque los estudios genéticos son cada vez más rentables en la epilepsia, debemos seguir buscando biomarcadores más precoces y probar ensayos terapéuticos dirigidos.

['Wait and see' in paediatric epilepsy. Our experience]. / Wait and see en epilepsia pediátrica. Nuestra experiencia.

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. RESULTS: Sixty-five patients meet the selection criteria. Twenty-four patients had had a single crisis with a mean duration of 12 minutes (1-60). In 66.7% it was nocturnal. 41.7% presented pathological electroencephalogram, and 21% pathological findings in neuroimaging. The mean control time was 2.7 years (0.003-13.6 years). Forty-one presented more than one crisis, with a mean duration of nine minutes (1-60). Five patients presented more than 20 seizures, the rest between two and 17. Twenty-four (58.5%) presented only nocturnal seizures. An electroencephalogram was performed in all: epileptiform graphoelements in 63.4%; and neuroimaging in all: pathological in 4.9%. Mean control time was 3.8 years (0.01-9.1 years). CONCLUSIONS: Seizure frequency, underlying pathology or test results should not be the only variables to take into consideration when starting antiepileptic drug treatment. The repercussion on their quality of life and neurodevelopment should prevail, agreeing on this decision with the parents.

TITLE: Wait and see en epilepsia pediátrica. Nuestra experiencia.El tratamiento farmacológico de la epilepsia no es curativo; pretende, en lo posible, evitar crisis en niños que probablemente van a seguir teniéndolas. Pacientes y métodos. El objeto es analizar nuestra experiencia en niños con epilepsia y con primera crisis no sintomática aguda no tratados con antiepilépticos. Se analizó a pacientes atendidos en una consulta de neuropediatría, desde 2017 hasta 2021, que habían sufrido una o más crisis no sintomáticas agudas y a los que no se les había tratado farmacológicamente. Resultados. Sesenta y cinco pacientes cumplieron los criterios de selección. Veinticuatro habían tenido una única crisis, con un tiempo medio de duración de 12 minutos (1-60). En un 66,7% fue nocturna. Un 41,7% presentó electroencefalograma patológico, y un 21%, hallazgos patológicos en la neuroimagen. El tiempo medio de control fue de 2,7 años (0,003-13,6 años). Cuarenta y uno presentaron más de una crisis, con una duración media de nueve minutos (1-60). Cinco pacientes presentaron más de 20 crisis, y el resto, entre dos y 17. Veinticuatro (58,5%) presentaron únicamente crisis nocturnas. Se realizó un electroencefalograma en todos: grafoelementos epileptiformes en el 63,4%; y neuroimagen en todos: patológica en el 4,9%. El tiempo medio de control fue de 3,8 años (0,01-9,1 años). Conclusiones. La frecuencia de las crisis, la patología de base o los resultados de las pruebas complementarias no deberían ser las únicas variables que habría que considerar para iniciar el tratamiento farmacológico antiepiléptico en los niños. Debería prevalecer, por encima de aquéllos, el potencial perjuicio sobre la calidad de vida y el neurodesarrollo, las funciones atencionales y el comportamiento del niño, y siempre consensuar esta decisión con los padres.

[Telematic attention in a neuropediatrics consultation during the COVID-19 alarm state. Cross-sectional study and satisfaction survey]. / Valoración de la atención telemática en una consulta de Neuropediatría durante el estado de alarma por COVID-19. Estudio transversal y encuesta de satisfacción.

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. To measure satisfaction, a survey is conducted with parents and guardians. RESULTS: 416 children were attended by telephone. Most frequent diagnoses: neurodevelopmental disorder (27.8%), isolated ADD/ADHD (26.8%), and epilepsy (9.2%). 32.2% responded to the survey: 66.6% prior satisfaction. Global satisfaction with telephone consultation 59.9%; 77% would return to make the telephone consultation. CONCLUSIONS: User satisfaction with the telephone consultation, in a crisis situation, is similar to that perceived with the face-to-face consultation. 32% respond to the survey, and 60% are satisfied.

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. RESULTS: A total of 128 patients with NF1 were identified. Mean age (SD) at NF1 diagnosis was 4.43 (3.38) years (range, 0.5-14.5 years). There was a slight female predominance (53.1%). Macrocephaly (head circumference over 2 SDs above average for age) was present in 37.5% of cases. Attention-deficit/hyperactivity disorder was recorded in 28.9% of patients (37): combined type in 20 patients, predominantly inattentive in 15, and predominantly impulsive/hyperactive in 2. Other manifestations included headache (18.6%), cognitive impairment (7.8%), motor deficit (6.2%), and epilepsy (4.68%). Brain MRI was performed in 85 patients, revealing T2-weighted hyperintensities in the basal ganglia and/or cerebellum in 60 patients (70.5%), Chiari malformation type 1 in 4 cases, and arachnoid cysts in 3. Optic nerve gliomas were identified by MRI in 22 patients (25.8%). Other MRI findings included plexiform neurofibromas (9.3%) and central nervous system gliomas (3.1%). CONCLUSIONS: The neurological manifestations identified in our sample are consistent with those reported in the literature. Effective transfer strategies from paediatric neurology departments and subsequent clinical follow-up by adult neurology departments are needed to prevent loss to follow-up in adulthood.

A novel mutation in the ZNF462 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 ZNF462 gene or deletion of 9p31.2 chromosome region, involving ZNF462. The prevalence of WSKA is unknown as only 24 affected individuals have been described. This syndrome should be suspected in individuals presenting mild global developmental delay and common craniofacial abnormalities. CASE PRESENTATION: We presented a case of an infant, 3 years and 4-month life who presented pondostatural and psychomotor retardation, generalized hypotonia with hypermobility, bilateral palpebral ptosis, epicanthal folds, and poorly expressive facies as the main clinical features. These characteristics lead to the realization of genetics studies that resulted in the identification of a novel mutation c.3306dup; p.(Gln1103Thrfs*10) in ZNF462. CONCLUSIONS: WSKA should be suspected in individuals presenting mild global developmental delay, ptosis, downslanting palpebral fissures, exaggerated Cupid's Bow, arched eyebrows, epicanthal folds and short upturned nose with a bulbous tip. Hypertrophy of the ventricular septum and severe OSA were described in our patient and should be considered in future reviews of the disease. This case is added to the reduced number of publications previously reported regarding WSKA and contributes to understanding the genetic characteristics, clinical features, and diagnosis of this syndrome.Abbreviations: WSKA: Weiss-Kruszka syndrome; CP: craniofacial perimeter; WES: whole-exome sequencing; RSV: respiratory syncytial virus; OSA: obstructive sleep apnoea; ACMG: American College of Medical Genetics and Genomics.

[Abusive head trauma. A review of our experience]. / Traumatismo craneal por maltrato. Revisión de nuestra experiencia.

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. PATIENTS AND METHODS: It is a descriptive, observational and retrospective study of the 19 patients diagnosed with AHT at a tertiary hospital from 1990 to 2018, both included. RESULTS: The mean age of the patients was 5,5 months with parity between both sexes. The principal medical histories reported were: absence of trauma (n = 9), history of a short fall (n = 6) and shaking (n = 4). The most frequent initial presentation was severe, and seizures was the main symptom (n = 8). Retinal haemorrhages were present in fifteen patients and subdural hematoma or hygroma in fifteen patients. Two patients died, seven presented short-term outcomes, and ten of the twelve patients who were performed a follow-up presented long-term outcomes. These outcomes were manifested as cognitive or behavioural disorders (n = 5) or as neurological disorders (n = 6). CONCLUSIONS: The epidemiological, clinical and radiological characteristics found are very similar to those reported in the literature. The prevalence of outcomes is high and they appear as cognitive or behavioural disorders.

TITLE: Traumatismo craneal por maltrato. Revisión de nuestra experiencia.Introducción. El traumatismo craneal por maltrato (TCM) se define como todo traumatismo que ocasiona lesiones intracraneales debido a un impacto directo infligido y/o zarandeo, y se caracteriza por la tríada de encefalopatía, hemorragias retinianas y hematoma subdural. El objetivo de este estudio es conocer las características epidemiológicas, clínicas y radiológicas, así como las secuelas de los pacientes diagnosticados de TCM. Pacientes y métodos. Estudio descriptivo observacional retrospectivo de los 19 pacientes diagnosticados de TCM en un hospital terciario entre 1990 y 2018, ambos inclusive. Resultados. La edad media de los afectados fue de 5,5 meses y existe paridad entre ambos sexos. Las anamnesis aportadas por los cuidadores fueron: ausencia de traumatismo (n = 9), antecedente de caída (n = 6) y zarandeo (n = 4). La clínica inicial más prevalente fueron los síntomas graves, y las convulsiones fueron el síntoma más frecuente (n = 8). Quince pacientes presentaron hemorragias retinianas y otros 15, hematoma subdural o higroma. Dos pacientes fallecieron, siete presentaron secuelas en el alta y 10 de los 12 pacientes en los que se realizó seguimiento presentaron secuelas tardías manifestadas como secuelas cognitivas/comportamiento (n = 5) o como secuelas neurológicas (n = 6). Conclusiones. Las características epidemiológicas, clínicas y radiológicas son muy similares a las publicadas en la bibliografía. La presencia de secuelas es prevalente y éstas se manifiestan tanto como problemas cognitivos y de comportamiento como por secuelas neurológicas.

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.

[Early infantile epileptic encephalopathy due to ITPA mutation]. / Encefalopatía epiléptica infantil precoz por mutación en ITPA.

TITLE: Encefalopatía epiléptica infantil precoz por mutación en ITPA.

[Atypical presentation of early childhood epileptic encephalopathy associated with the gene KCNT1]. / Presentación atípica de encefalopatía epiléptica infantil precoz asociada al gen KCNT1.

TITLE: Presentación atípica de encefalopatía epiléptica infantil precoz asociada al gen KCNT1.

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

TITLE: Síndrome de duplicación MECP2 familiar.

Functional assessment of a series of paediatric patients receiving neurointensive treatment: New Functional status scale. / Valoración funcional tras tratamiento neurointensivo pediátrico. Nueva escala de estado funcional (FSS).

INTRODUCTION: Functional health, a reliable parameter of the impact of disease, should be used systematically to assess prognosis in paediatric intensive care units (PICU). Developing scales for the assessment of functional health is therefore essential. The Paediatric Overall and Cerebral Performance Category (POPC, PCPC) scales have traditionally been used in paediatric studies. The new Functional Status Scale (FSS) was designed to provide more objective results. This study aims to confirm the validity of the FSS compared to the classic POPC and PCPC scales, and to evaluate whether it may also be superior to the latter in assessing of neurological function. PATIENTS AND METHOD: We conducted a retrospective descriptive study of 266 children with neurological diseases admitted to intensive care between 2012 and 2014. Functional health at discharge and at one year after discharge was evaluated using the PCPC and POPC scales and the new FSS. RESULTS: Global FSS scores were found to be well correlated with all POPC scores (P<.001), except in category 5 (coma/vegetative state). Global FSS score dispersion increases with POPC category. The neurological versions of both scales show a similar correlation. DISCUSSION: Comparison with classic POPC and PCPC categories suggests that the new FSS scale is a useful method for evaluating functional health in our setting. The dispersion of FSS values underlines the poor accuracy of POPC-PCPC compared to the new FSS scale, which is more disaggregated and objective.

Functional progression of patients with neurological diseases in a tertiary paediatric intensive care unit: Our experience. / Patología neurológica en una unidad de cuidados intensivos pediátricos de tercer nivel. Evolución funcional. Nuestra experiencia.

INTRODUCTION: Neurological diseases explain a considerable proportion of admissions to paediatric intensive care units (PICU), and are a significant cause of morbidity and mortality. This study aims to analyse the functional progression of children with critical neurological conditions. MATERIAL AND METHODS: Retrospective descriptive study of children admitted to PICU with neurological diseases over a period of 3 years (2012-2014), assessing vital and functional prognosis at PICU discharge and at one year according to the Pediatric Cerebral and Overall Performance Category scales (PCPC-POPC) and the Functional Status Scale (FSS). The results are compared with our previous data (1990-1999), and those of the international multicentre PANGEA study. RESULTS: A total of 266 children were studied. The mortality rate was 3%; the PRISM-III and PIM2 models did not show predictive ability. Clinically significant worsening was observed in functional health at discharge in 30% of the sample, according to POPC, 15% according to PCPC, and 5% according to FSS. After one year, functional performance improved according to PCPC-POPC, but not according to FSS. Children with no underlying neurological disease had a higher degree of functional impairment; this was prolonged over time. We observed a decrease in overall and neurocritical mortality compared with our previous data (5.60 vs. 2.1%, P=.0003, and 8.44 vs. 2.63%, P=.0014, respectively). Compared with the PANGEA study, both mortality and cerebral functional impairment in neurocritical children were lower in our study (1.05 vs. 13.32%, P<.0001, and 10.47% vs. 23.79%, P<.0001, respectively). CONCLUSIONS: Nearly one-third of critically ill children have neurological diseases. A significant percentage, mainly children without underlying neurological diseases, had a clinically significant functional impact at PICU discharge and after a year. Neuromonitoring and neuroprotection measures and the evaluation of functional progression are necessary to improve critical child care.

[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.

[Infant with intracranial calcifications and retinopathy]. / Lactante con calcificaciones intracraneales y retinopatia.

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. At 2 years of age, an MRI scan was performed for right hemiparesis, in which an image suggestive of a neoplasm was initially observed. Upon completion of the study with a cranial computed tomography scan, extensive calcifications were observed predominantly in the basal ganglia along with cystic lesions. After ruling out the most frequent causations of intracranial calcifications, the association between the retinopathy and the neurological features was established, and Coats plus syndrome was confirmed by a genetic study that revealed the presence of two hitherto unreported variants in heterozygosis in the CTC1 gene. CONCLUSION: Coats plus syndrome is an extraordinarily rare autosomal recessive disease, caused by mutations in the CTC1 gene, which involves the appearance of retinal telangiectasias, brain cysts, calcifications in deep nuclei and leukoencephalopathy, as well as other bone and gastrointestinal conditions. Treatment is symptomatic and the disease has a poor prognosis.

TITLE: Lactante con calcificaciones intracraneales y retinopatia.Introduccion. Las calcificaciones intracraneales pueden tener multiples etiologias, y la distribucion y las caracteristicas que presenten en la neuroimagen pueden orientar hacia unas u otras. Es importante descartar las entidades mas frecuentes que cursan con calcificaciones intracraneales, pero no deben olvidarse otras causas geneticas mucho mas remotas, como el sindrome de Coats plus. Caso clinico. Lactante exprematura de 34 semanas de edad gestacional, diagnosticada de retinopatia a los 9 meses al presentar estrabismo. A los 2 años de edad se realizo una resonancia magnetica por hemiparesia derecha, en la que se observo una imagen sugestiva inicialmente de neoplasia. Al completar el estudio con una tomografia computarizada craneal, se observaron extensas calcificaciones de predominio en los ganglios basales y lesiones quisticas. Tras descartarse las etiologias mas frecuentes de calcificaciones intracraneales, se llego a la asociacion de la retinopatia y la clinica neurologica y se confirmo el sindrome de Coats plus mediante estudio genetico, que revelo la presencia de dos variantes en heterocigosis no documentadas hasta la fecha en el gen CTC1. Conclusion. El sindrome de Coats plus es una enfermedad autosomica recesiva extraordinariamente infrecuente, provocada por mutaciones en el gen CTC1, que supone la aparicion de telangiectasias retinianas, quistes cerebrales, calcificaciones en los nucleos profundos y leucoencefalopatia, ademas de otras afecciones oseas y gastrointestinales. El tratamiento es sintomatico y la enfermedad tiene un mal pronostico.

Neurological manifestations of neurofibromatosis type 1: our experience. / Manifestaciones neurológicas en neurofibromatosis tipo 1. Nuestra experiencia.

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. RESULTS: A total of 128 patients with NF1 were identified. Mean age (SD) at NF1 diagnosis was 4.43 (3.38) years (range, 0.5-14.5 years). There was a slight female predominance (53.1%). Macrocephaly (head circumference over 2 SDs above average for age) was present in 37.5% of cases. Attention-deficit/hyperactivity disorder was recorded in 28.9% of patients (37): combined type in 20 patients, predominantly inattentive in 15, and predominantly impulsive/hyperactive in 2. Other manifestations included headache (18.6%), cognitive impairment (7.8%), motor deficit (6.2%), and epilepsy (4.68%). Brain MRI was performed in 85 patients, revealing T2-weighted hyperintensities in the basal ganglia and/or cerebellum in 60 patients (70.5%), Chiari malformation type 1 in 4 cases, and arachnoid cysts in 3. Optic nerve gliomas were identified by MRI in 22 patients (25.8%). Other MRI findings included plexiform neurofibromas (9.3%) and central nervous system gliomas (3.1%). CONCLUSIONS: The neurological manifestations identified in our sample are consistent with those reported in the literature. Effective transfer strategies from paediatric neurology departments and subsequent clinical follow-up by adult neurology departments are needed to prevent loss to follow-up in adulthood.

[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.