Analysis of Sturge-Weber syndrome: A retrospective study of multiple associated variables. / Análisis del síndrome de Sturge-Weber: estudio retrospectivo de múltiples variables asociadas.

INTRODUCTION: Sturge-Weber syndrome is a congenital vascular disorder characterised by facial capillary malformation (port-wine stain) associated with venous and capillary malformations in the brain and eye. Neurological symptoms and alterations in other locations may also be observed. OBJECTIVES: This study describes the clinical and epidemiological characteristics and different treatments in a cohort of patients diagnosed with Sturge-Weber syndrome in a tertiary hospital. MATERIAL AND METHODS: This comparative, retrospective and cross-sectional study was conducted by reviewing the medical records of patients diagnosed with Sturge-Weber syndrome between 1998 and 2013. RESULTS: The study included 13 patients (54% male, 46% female) diagnosed with Sturge-Weber syndrome. The mean age at diagnosis was 15 months. Leptomeningeal angiomatosis was present in 100% of cases: right hemisphere (46%), left hemisphere (38%), and bilateral (15%). Facial angioma was present in 61% of the cases: right (23%), left (38%) and bilateral (7%). Other skin disorders were found in 23% of the cases, including 2 with hemilateral involvement on the side where facial and leptomeningeal angiomatosis was present and one case of generalised cutis marmorata. Ocular disease was found in 77% of patients; the most common conditions were glaucoma (46%), strabismus (23%) and choroidal angioma (23%). Epilepsy was present in 100% of the cases, with partial seizures (simple or complex) being the most frequent (62%). Seizure control was highly variable; 31% of the patients had needed to try more than 3 drugs, 15% 3 drugs, and 31% 2 drugs, while 23% experienced good seizure control with monotherapy. One patient required surgery for epilepsy (left hemispherectomy) and has been seizure-free since then. The most frequent observations in electroencephalograms were spikes, polyspikes, and wave spikes in the lobes affected by leptomeningeal angiomatosis (46%). Other neurological symptoms were hemiparesis (39%), recurrent headaches (39%), stroke-like episodes (23%), psychomotor retardation (46%), and mental retardation (46%). Leptomeningeal calcifications could be seen in 85% of patient MRIs, as well as increased calcification in 70%; 54% of the patients had been treated with aspirin. CONCLUSIONS: There are multiple clinical manifestations of Sturge-Weber syndrome. Being familiar with all of them is vitally important for diagnosing and for monitoring and treating the condition correctly, which will improve the quality of life of these patients.

[Implementation of a pediatric unit of acquired brain injury in subacute phase in the public health system. Epidemiological, clinical and initial evolution characteristics of the patients attended]. / Implantación de una unidad pediátrica de daño cerebral adquirido en fase subaguda en el sistema público de salud. Características epidemiológicas, clínicas y de evolución inicial de los pacientes atendidos.

INTRODUCTION: Acquired brain injury (ABI) is defined as a neurological injury, acutely occurred, at some point in life causing impairment or loss of functional capacity. In 2019, a specific document was created by the Ombudsman pointing out the relevance of attention to this entity in the pediatric age. PATIENTS AND METHOD: The process of creation and the casuistry of care of one of the first comprehensive care units for subacute ACD in pediatric age within the public health system is presented. RESULTS: Different clinical guidelines have been prepared on the admission and care process within the unit, both for patients and their relatives. Twenty-four patients ≤18 years old, admitted to the subacute phase ACD unit from November 2019 to July 2021, 12 coming from the Community of Madrid, were attended. The median age was 6.97 years. Traumatic mechanism was the most frequent, with iatrogenic causes predominating, followed by precipitation and vehicle-related accidents. On admission to the unit, 8 maintained a minimally conscious/vegetative state. The collaboration of up to 14 different specialists was required due to the complexity of the patients. The overall evolution was favorable in 23 cases, with sequelae in all of them. CONCLUSION: The creation of units specialized in pediatric ACD care with specific action protocols and coordinated trans- and multidisciplinary work is of vital importance.

Cerebral and cerebellar pseudoatrophy associated with valproic acid. Report of three pediatric cases. / Pseudoatrofia cerebral y cerebelosa asociada a ácido valproico. Descripción de tres casos pediátricos.

INTRODUCTION: Cerebral and cerebellar pseudoatrophy is a rare adverse effect of valproic acid (VPA) that we need to be aware of, due to its diagnostic and therapeutic implications. CASE REPORT: We report three cases of children between 5 and 9 years old, with epilepsy and previous normal brain magnetic resonance imaging, who were taking the drug at correct doses. Pseudoatrophy manifests subacutely with symptoms and images of cerebral and/or cerebellar atrophy, reversible after drug withdrawal. DISCUSSION AND CONCLUSIONS: This is a type of VPA-related encephalopathy, different from dose-dependent toxic encephalopathy, hyperammonaemic encephalopathy or encephalopathy related to liver failure. In children, it causes cognitive, motor, mood and behavioral deterioration, and may be accompanied by epileptic decompensation. Withdrawing the drug leads to complete clinical-radiological recovery, and reducing the dose leads to improvement.

TITLE: Pseudoatrofia cerebral y cerebelosa asociada a ácido valproico. Descripción de tres casos pediátricos.Introducción. La pseudoatrofia cerebral y cerebelosa es un efecto adverso infrecuente del ácido valproico (VPA) que debemos conocer por sus implicaciones diagnósticas y terapéuticas. Caso clínico. Presentamos tres casos de niños de entre 5 y 9 años, con epilepsia y resonancia magnética craneal previa normal, que llevaban el fármaco con dosis correctas. La pseudoatrofia se manifiesta de forma subaguda con síntomas e imagen de atrofia cerebral y/o cerebelosa, reversible tras la retirada del fármaco. Discusión y conclusiones. Se trata de un tipo de encefalopatía relacionada con VPA diferente a la encefalopatía tóxica dependiente de la dosis, la encefalopatía hiperamoniémica o la relacionada con fallo hepático. En niños, cursa con deterioro cognitivo, motor, anímico y conductual, y puede acompañarse de descompensación epiléptica. La retirada del fármaco conlleva una recuperación completa clinicorradiológica, y la disminución de dosis, una mejoría.

[Responses by neuropaediatricians to a palliative care questionnaire]. / Cuestionario sobre cuidados paliativos a neuropediatras.

INTRODUCTION: Up to 70% of children currently treated by Palliative Care Units in Europe are neurological patients. Our objective is to assess the knowledge, interest and involvement in Paediatric Palliative Care (PPC) among Spanish paediatric neurologists. MATERIAL AND METHODS: We contacted 297 Neuropaediatricians by and attached a 10-question multiple choice test. This questionnaire was related to the level of knowledge of PPC, identification of patients requiring this specific care, involvement of a paediatric neurologist, use of local palliative resources, and formal training in this subject. RESULTS: Participation rate was 32% (96/297). Around 90% knew the definition of PPC, could identify patients with a short-term survival prognosis, and had treated children who eventually died due to their illnesses. A "non resuscitation order" had been written by 61% of them at least once; 77% considered the patient́s home as the preferred location of death (if receiving appropriate care), 9% preferred the hospital, and 14% had no preference for any of these options. Just over half (52%) had contacted local PC resources, and 61% had referred or would refer patients to be seen periodically by both services (PC and Paediatric Neurology). More than half (55%) consider themselves not trained enough to deal with these children, and 80% would like to increase their knowledge about PPC. CONCLUSION: The paediatric neurologists surveyed frequently deal with children who suffer from incurable diseases. Their level of involvement with these patients is high. However, there is an overwhelming necessity and desire to receive more training to support these children and their families.

[Hypothalamic hamartoma in paediatric patients: clinical characteristics, outcomes and review of the literature]. / Hamartoma hipotalámico en la edad pediátrica: características clínicas, evolución y revisión de la literatura.

OBJECTIVE: To describe the epidemiological and clinical-electroencephalographic characteristics, and associated morbidity of patients with hypothalamic hamartoma, as well as the treatment followed and outcomes PATIENTS AND METHODS: We have retrospectively reviewed the medical histories of 10 patients diagnosed with hypothalamic hamartoma by magnetic resonance imaging over the last 20 years. RESULTS: The age of onset of epilepsy in patients with hypothalamic hamartoma in our series was between the first days of life and 2 years. Of the 10 total patients, 8 had epileptic seizures during its progress. All of them had gelastic seizures, in addition to other types of seizures, with the most common being partial simple seizures. The electroencephalographic findings recorded were highly variable. One of the patients developed epileptic encephalopathy. Five patients had some kind of conduct disorder. Five patients had cognitive problems. At least 2 different antiepileptic drugs were measured in 8 of the patients who had seizures, and in 6 of these some type of non-pharmacological treatment had been used with the objective of seizure control. Only in 3 of 8 patients has been achieved Acceptable control of epilepsy had only been achieved in 3 out the 8 patients. Five patients of the series developed precocious puberty. The average time of follow-up of the series was approximately 6 years. CONCLUSIONS: Epilepsy is the most frequent manifestation of hypothalamic hamartomas. Most cases were drug-resistant, which led to difficulties in the management of these patients, requiring surgery for their control on many occasions. Psychiatric comorbidity and cognitive impairment is common.

[Variability of the clinical expression of KCNB1 encephalopathy]. / Variabilidad de la expresión clínica de la encefalopatía KCNB1.

INTRODUCTION: The KCNB1 gene encodes a voltage-dependent potassium channel that regulates transmembrane currents in pyramidal neurons. Heterozygous variants have recently been associated with early-onset epileptic encephalopathies and intellectual disability, but their clinical characterisation has not yet been fully defined. AIM: To describe the clinical spectrum associated with variants of KCNB1 in paediatric patients. PATIENTS AND METHODS: Retrospective study of four patients from three families with KCNB1 encephalopathy, including an analysis of the clinical and electroencephalographic features of epilepsy, associated neurological manifestations and neurodevelopmental pattern. RESULTS: In two of them, the mutation in KCNB1 was de novo; the other two, who were sisters, inherited the variant from a parent with germline mosaicism. All had mild-to-moderate intellectual disability, two patients had autistic spectrum disorder and two had attention deficit hyperactivity disorder. Only case 2 displayed alterations in the MRI brain scan: progressive cortical atrophy. Three of them developed epilepsy (cases 1-3). Case 1: onset at 9.5 months with West syndrome that was well controlled with vigabatrine and zonisamide. Case 2: onset at 13 months with West syndrome, evolutionary development of polymorphic seizures (atonic, hypermotor, dysautonomic and tonic) that were refractory to 10 antiepileptic drugs and corticosteroids. Accompanied by a movement disorder characterised by ataxia, dyskinesias and tremor. Case 3: onset at 14.5 years with atonic seizures, multifocal EEG pattern and adequate control with levetiracetam. CONCLUSIONS: KCNB1 encephalopathy has a heterogeneous natural history, mainly with respect to epilepsy, ranging from patients with refractory epilepsy to patients without any epileptic seizures. All had neurodevelopmental disorders, such as intellectual disability or autism spectrum disorder, independent of epilepsy.

TITLE: Variabilidad de la expresión clínica de la encefalopatía KCNB1.Introducción. El gen KCNB1 codifica un canal de potasio dependiente del voltaje que regula corrientes transmembrana en las neuronas piramidales. Variantes en heterocigosis se han asociado recientemente con encefalopatías epilépticas de inicio precoz y discapacidad intelectual, pero su caracterización clínica no está completamente definida. Objetivo. Describir el espectro clínico asociado con variantes de KCNB1 en pacientes pediátricos. Pacientes y métodos. Estudio retrospectivo de cuatro pacientes procedentes de tres familias con encefalopatía KCNB1, analizando características clínicas y electroencefalográficas de la epilepsia, manifestaciones neurológicas asociadas y patrón de neurodesarrollo. Resultados. En dos, la mutación en KCNB1 fue de novo; las otras dos, hermanas, heredaron la variante de un progenitor con mosaicismo germinal. Todos presentaban discapacidad intelectual leve-moderada; dos pacientes, trastorno del espectro autista; y otros dos, trastorno por déficit de atención/hiperactividad. Sólo el caso 2 mostro´ alteraciones en la resonancia magnética cerebral: atrofia cortical evolutiva. Tres desarrollaron epilepsia (casos 1-3). Caso 1: inicio a los 9,5 meses con síndrome de West bien controlado con vigabatrina y zonisamida. Caso 2: inicio a los 13 meses con síndrome de West; desarrollo evolutivo de crisis polimorfas (atónicas, hipermotoras, disautonómicas y tónicas) refractarias a 10 fármacos antiepilépticos y corticoides. Asocio´ trastorno del movimiento caracterizado por ataxia, discinesias y temblor. Caso 3: inicio a los 14,5 años con crisis atónicas, patrón multifocal en el electroencefalograma y adecuado control con levetiracetam. Conclusiones. La encefalopatía KCNB1 presenta una evolución natural heterogénea, principalmente respecto a la epilepsia, y se observan desde pacientes con epilepsia refractaria hasta pacientes sin crisis epilépticas. Todos cursaron con alteraciones del neurodesarrollo, como discapacidad intelectual o trastorno del espectro autista, de forma independiente a la epilepsia.

[Tuberous sclerosis complex: analysis of areas of involvement, treatment progress and translation to routine clinical practice in a cohort of paediatric patients]. / Complejo esclerosis tuberosa: análisis de los ámbitos de afectación, progreso en el tratamiento y traslación a la práctica clínica habitual en una cohorte de pacientes pediátricos.

INTRODUCTION: Tuberous sclerosis complex (TSC) displays great phenotypic variability. Increasingly early diagnosis, including prenatal identification, entails the need for the paediatrician and neuropaediatrician to establish early suspicion and identification of factors that may influence prognosis and treatment. AIM: To determine the clinical criteria for early diagnosis, initial complementary tests, actions and treatments to prevent different comorbidities, so as to improve the prognosis of these patients. PATIENTS AND METHODS: Descriptive, retrospective study of = 18-year-olds with a definitive diagnosis of TSC in a tertiary hospital from 1998 to 2019. We collected variables referring to epidemiological data, multisystem involvement, complementary tests and genetics. RESULTS: Ninety-four patients were analysed. The main diagnostic reasons were epilepsy and rhabdomyomas. The frequency of occurrence of clinical criteria was determined, and neuropathological findings were the main findings, followed by cutaneous stigmata, rhabdomyomas and renal lesions. Statistical relationships were found between clinical, radiological and genetic aspects, the influence of preventive activities on the occurrence of epilepsy and the relevance of everolimus use were tested. CONCLUSIONS: Rhabdomyomas and skin stigmata in patients and parents are major diagnostic signs in infants. Tubers and subependymal nodules are statistically associated with the development of epilepsy. Early epileptic spasms, refractory to treatment in the first months, increase the risk of cognitive deficits and autism spectrum disorder. Epileptic abnormalities need to be closely monitored in the first year of life. Everolimus is an alternative treatment for several comorbidities, but its early use (< 3 years) requires further study.

TITLE: Complejo esclerosis tuberosa: análisis de los ámbitos de afectación, progreso en el tratamiento y traslación a la práctica clínica habitual en una cohorte de pacientes pediátricos.Introducción. El complejo esclerosis tuberosa (CET) presenta gran variabilidad fenotípica. El diagnóstico cada vez más precoz, incluyendo la identificación prenatal, conlleva la necesidad de establecer una sospecha e identificación temprana, por parte del pediatra y del neuropediatra, de factores que pueden influir en su pronóstico y tratamiento. Objetivo. Determinar los criterios clínicos de un diagnóstico precoz, las pruebas complementarias iniciales, las actuaciones y los tratamientos que prevengan diferentes comorbilidades, mejorando el pronóstico de estos pacientes. Pacientes y métodos. Estudio descriptivo, retrospectivo de = 18 años con diagnóstico definitivo de CET en un hospital terciario desde 1998 hasta 2019. Se recogieron variables epidemiológicas, de afectación multisistémica, pruebas complementarias y genética. Resultados. Se analizó a 94 pacientes. Los principales motivos diagnósticos fueron la epilepsia y los rabdomiomas. Se determinó la frecuencia de aparición de los criterios clínicos, y los hallazgos neuropatológicos fueron los principales, seguidos de los estigmas cutáneos, los rabdomiomas y las lesiones renales. Se comprobaron relaciones estadísticas entre aspectos clínicos, radiológicos, genéticos, la influencia de las actividades preventivas sobre la aparición de epilepsia y la relevancia del uso de everolimús. Conclusiones. Los rabdomiomas y los estigmas cutáneos en pacientes y progenitores constituyen signos diagnósticos principales en lactantes. Los túberes y los nódulos subependimarios tienen asociación estadística con el desarrollo de epilepsia. Los espasmos epilépticos en edades precoces, refractarios a tratamiento en los primeros meses, incrementan el riesgo de déficit cognitivo y trastorno del espectro autista. Es necesario monitorizar estrechamente las anomalías epilépticas en el primer año de vida. El everolimús supone una alternativa de tratamiento en varias comorbilidades, pero su uso precoz (menor de 3 años) precisa más estudios.

Primary trochlear headache. A periorbital pain with a specific diagnosis and treatment. / Cefalea troclear primaria. Un dolor periorbitario con diagnóstico y tratamiento específicos.

Primary trochlear headache is a little-known cause of periorbital headache described in adults. It can involve very disabling pain. In addition, it can be associated with other types of headaches, making them even more difficult to identify. To diagnose this pathology, it is necessary that the examination of the trochlea be incorporated into the usual clinical practice of the patient with headache, which will allow the establishment of an adequate treatment. The case is presented of an adolescent patient with a diagnosis of migraine, who was admitted with a disabling headache secondary to a primary trochlear headache.

[Ten years' experience with vagus nerve stimulation in a paediatric population]. / Diez años de experiencia con el estimulador del nervio vago en una poblacion pediatrica.

INTRODUCTION: Fifty million people are affected by epilepsy. Up to 30% are not controlled with the aid of antiepileptic drugs. The vagus nerve stimulator (VNS) is a therapeutic alternative that must be taken into account. AIMS: To determine the effect of the VNS in a cohort of paediatric patients with refractory epilepsy. PATIENTS AND METHODS: A retrospective study of children with a VNS implanted between 2008 and 2017 in a tertiary hospital. Epidemiological, aetiological, clinical and electrophysiological data, along with VNS parameters were analysed. RESULTS: The study included 35 patients, with a mean age when the VNS was implanted of 12.84 years (range: 3.1-18.7 years) and a mean time between onset of epilepsy and implantation of 7.2 years (range: 1.3-17.7 years). The causation was structural in 62.9% of cases. The most frequent epileptic conditions were: Lennox-Gastaut syndrome and focal epilepsy, with a predominance of tonic seizures (57.1%). The video electroencephalogram showed multifocal anomalies (54%) and a pattern of epileptic encephalopathies (34.3%). Intellectual disability was associated in 94% of the cases. The mean of previous antiepileptic drugs was 9.6 ± 3 (range: 4-16). 43% responded to treatment (>= 50% reduction in number of seizures), with a mean reduction of 67.3%, which improved with higher ages of onset of epilepsy. Three patients were seizure-free (8.5%). The number of seizures decreased by 33% at six months and by 47.4% at 24 months. There was also a notable degree of cognitive (57%) and behavioural improvement (53%). In 28% of cases there were some side effects, but in general they were mild. CONCLUSIONS: The VNS is a valid option in refractory epilepsy, with improvements not only in terms of seizures but also regarding cognitive-behavioural aspects, this being very important for the paediatric population.

TITLE: Diez años de experiencia con el estimulador del nervio vago en una poblacion pediatrica.Introduccion. La epilepsia afecta a 50 millones de personas. Hasta un 30% no se controla con farmacos antiepilepticos. El estimulador del nervio vago (ENV) constituye una alternativa terapeutica que hay que valorar. Objetivo. Determinar el efecto del ENV en una cohorte pediatrica con epilepsia refractaria. Pacientes y metodos. Estudio retrospectivo de niños con ENV implantado entre 2008 y 2017 en un hospital terciario. Se han analizado datos epidemiologicos, etiologicos, clinicos, electrofisiologicos y parametros del ENV. Resultados. Se incluyo a 35 pacientes, con una mediana de edad de implantacion de 12,84 años (rango: 3,1-18,7 años) y una mediana de evolucion entre el inicio de la epilepsia y la implantacion de 7,2 años (rango: 1,3-17,7 años). La etiologia fue estructural en el 62,9% de los casos. Cuadros epilepticos mas frecuentes: sindrome de Lennox-Gastaut y epilepsia focal, con predominio de las crisis tonicas (57,1%). El videoelectroencefalograma mostro anomalias multifocales (54%) y un patron de encefalopatia epileptica (34,3%). El 94% asociaba discapacidad intelectual. La media de farmacos antiepilepticos previos fue de 9,6 ± 3 (rango: 4-16). El 43% fueron respondedores (>= 50% reduccion de crisis), con una media de reduccion del 67,3%, mejor cuanto mayor era la edad de inicio de la epilepsia. Tres pacientes quedaron libres de crisis (8,5%). La reduccion de crisis fue del 33% a los 6 meses y del 47,4% a los 24 meses. Mejoria cognitiva (57%) y conductual (53%). El 28% tuvo efectos secundarios, generalmente leves. Conclusiones. El ENV es una opcion valida en la epilepsia refractaria con mejoria no solo de las crisis, sino tambien cognitiva y conductual, con la importancia que ello tiene para la poblacion pediatrica.

Pseudoatrofia cerebral y cerebelosa asociada a ácido valproico. Descripción de tres casos pediátricos / Cerebral and cerebellar pseudoatrophy associated with valproic acid. Report of three pediatric cases

Introducción La pseudoatrofia cerebral y cerebelosa es un efecto adverso infrecuente del ácido valproico (VPA) que debemos conocer por sus implicaciones diagnósticas y terapéuticas. Caso clínico Presentamos tres casos de niños de entre 5 y 9 años, con epilepsia y resonancia magnética craneal previa normal, que llevaban el fármaco con dosis correctas. La pseudoatrofia se manifiesta de forma subaguda con síntomas e imagen de atrofia cerebral y/o cerebelosa, reversible tras la retirada del fármaco. Discusión y conclusiones. Se trata de un tipo de encefalopatía relacionada con VPA diferente a la encefalopatía tóxica dependiente de la dosis, la encefalopatía hiperamoniémica o la relacionada con fallo hepático. En niños, cursa con deterioro cognitivo, motor, anímico y conductual, y puede acompañarse de descompensación epiléptica. La retirada del fármaco conlleva una recuperación completa clinicorradiológica, y la disminución de dosis, una mejoría. (AU)

INTRODUCTION Cerebral and cerebellar pseudoatrophy is a rare adverse effect of valproic acid (VPA) that we need to be aware of, due to its diagnostic and therapeutic implications. CASE REPORT We report three cases of children between 5 and 9 years old, with epilepsy and previous normal brain magnetic resonance imaging, who were taking the drug at correct doses. Pseudoatrophy manifests subacutely with symptoms and images of cerebral and/or cerebellar atrophy, reversible after drug withdrawal. Discussion and conclusions. This is a type of VPA-related encephalopathy, different from dose-dependent toxic encephalopathy, hyperammonaemic encephalopathy or encephalopathy related to liver failure. In children, it causes cognitive, motor, mood and behavioral deterioration, and may be accompanied by epileptic decompensation. Withdrawing the drug leads to complete clinical-radiological recovery, and reducing the dose leads to improvement. (AU)

[Pathognomonic chorioretinal lacunar lesions in an infant with Aicardi's syndrome]. / Coriorretinopatía lacunar como presentación de síndrome de Aicardi en el lactante.

CLINICAL CASE: We report the case of an 81-day-old female infant who was brought to the Emergency Department because of a seizure. At 20 weeks of gestational age she was diagnosed to have agenesis of the corpus callosum, with this being confirmed later by magnetic resonance imaging. Ophthalmological examination of the fundus showed peripapillar chorioretinal lesions (lacunar chorioretinopathy) in both eyes. DISCUSSION: Chorioretinal lacunar and retinal pigment epithelial abnormalities are the basis for the diagnosis of this syndrome.

[Alström Hallgren syndrome]. / Síndrome de Alström Hallgren.

INTRODUCTION: Alström-Hallgren syndrome is an inherited condition in which the transmission of a double dose of a mutated gene leads to specific clinical findings. To the present time there has been only one gene detected which leads to this syndrome, the ALMS1 gene. Mutation of this gene leads to progressive blindness due to photoreceptor dystrophy, progressive sensorineural hearing loss, insulin resistant diabetes, morbid obesity and cardiologic abnormalities. CLINICAL CASE: We present the case of a four-year-old male who, after a cardiopulmonary shutdown in the fourth month of life, was diagnosed with a dilated cardiomyopathy. Nystagmus and photophobia followed, and, after ophthalmologic exploration and an electroretinogram, the results were consistent with Alström syndrome. The appropriate genetic studies were then performed. DISCUSSION: The diagnosis in this case was considered basically because of its uncommon clinical features, and the fact a multidisciplinary approach was used in its evaluation. We were only able to confirm the diagnosis by molecular biology techniques, with this resulting in the correct diagnosis in 25-40% of cases. Treatment is symptomatic and the prognosis extremely variable.

[Homonymous hemianopia due to arteriovenous malformations of the brain in infancy]. / Hemianopsia homónima secundaria a malformaciones arteriovenosas cerebrales en la infancia.

INTRODUCTION: Arteriovenous malformations (AVM) of the brain have a low prevalence but are responsible for a significant component of visual pathology in the young population. Vascular studies using selective angiography are necessary to identify arterial connections and venous drainage, and provide useful information for planning treatment. CLINICAL CASE: A 10-year-old child with a temporo-occipital vascular malformation resulting in a left homonymous hemianopia. DISCUSSION: Arteriovenous malformations of the brain are lesions with a high morbidity and mortality. For the ophthalmologist, they are of special importance due to the possibility of causing a variety of visual defects, depending on their location.

Complejo esclerosis tuberosa: análisis de los ámbitos de afectación, progreso en el tratamiento y traslación a la práctica clínica habitual en una cohorte de pacientes pediátricos / Tuberous sclerosis complex: analysis of areas of involvement, treatment progress and translation to routine clinical practice in a cohort of paediatric patients

Introducción: El complejo esclerosis tuberosa (CET) presenta gran variabilidad fenotípica. El diagnóstico cada vez más precoz, incluyendo la identificación prenatal, conlleva la necesidad de establecer una sospecha e identificación temprana, por parte del pediatra y del neuropediatra, de factores que pueden influir en su pronóstico y tratamiento. Objetivo: Determinar los criterios clínicos de un diagnóstico precoz, las pruebas complementarias iniciales, las actuaciones y los tratamientos que prevengan diferentes comorbilidades, mejorando el pronóstico de estos pacientes. Pacientes y métodos: Estudio descriptivo, retrospectivo de = 18 años con diagnóstico definitivo de CET en un hospital terciario desde 1998 hasta 2019. Se recogieron variables epidemiológicas, de afectación multisistémica, pruebas complementarias y genética. Resultados: Se analizó a 94 pacientes. Los principales motivos diagnósticos fueron la epilepsia y los rabdomiomas. Se determinó la frecuencia de aparición de los criterios clínicos, y los hallazgos neuropatológicos fueron los principales, seguidos de los estigmas cutáneos, los rabdomiomas y las lesiones renales. Se comprobaron relaciones estadísticas entre aspectos clínicos, radiológicos, genéticos, la influencia de las actividades preventivas sobre la aparición de epilepsia y la relevancia del uso de everolimús. Conclusiones: Los rabdomiomas y los estigmas cutáneos en pacientes y progenitores constituyen signos diagnósticos principales en lactantes. Los túberes y los nódulos subependimarios tienen asociación estadística con el desarrollo de epilepsia. Los espasmos epilépticos en edades precoces, refractarios a tratamiento en los primeros meses, incrementan el riesgo de déficit cognitivo y trastorno del espectro autista...(AU)

Introduction: Tuberous sclerosis complex (TSC) displays great phenotypic variability. Increasingly early diagnosis, including prenatal identification, entails the need for the paediatrician and neuropaediatrician to establish early suspicion and identification of factors that may influence prognosis and treatment. Aim: To determine the clinical criteria for early diagnosis, initial complementary tests, actions and treatments to prevent different comorbidities, so as to improve the prognosis of these patients. Patients and methods: Descriptive, retrospective study of ≤ 18-year-olds with a definitive diagnosis of TSC in a tertiary hospital from 1998 to 2019. We collected variables referring to epidemiological data, multisystem involvement, complementary tests and genetics. Results: Ninety-four patients were analysed. The main diagnostic reasons were epilepsy and rhabdomyomas. The frequency of occurrence of clinical criteria was determined, and neuropathological findings were the main findings, followed by cutaneous stigmata, rhabdomyomas and renal lesions. Statistical relationships were found between clinical, radiological and genetic aspects, the influence of preventive activities on the occurrence of epilepsy and the relevance of everolimus use were tested. Conclusions: Rhabdomyomas and skin stigmata in patients and parents are major diagnostic signs in infants. Tubers and subependymal nodules are statistically associated with the development of epilepsy. Early epileptic spasms, refractory to treatment in the first months, increase the risk of cognitive deficits and autism spectrum disorder. Epileptic abnormalities need to be closely monitored in the first year of life. Everolimus is an alternative treatment for several comorbidities, but its early use (< 3 years) requires further study.(AU)

Variabilidad de la expresión clínica de la encefalopatía KCNB1 / Variability of the clinical expression of KCNB1 encephalopathy

Introducción: El gen KCNB1 codifica un canal de potasio dependiente del voltaje que regula corrientes transmembrana en las neuronas piramidales. Variantes en heterocigosis se han asociado recientemente con encefalopatías epilépticas de inicio precoz y discapacidad intelectual, pero su caracterización clínica no está completamente definida.Objetivo: Describir el espectro clínico asociado con variantes de KCNB1 en pacientes pediátricos. Pacientes y métodos: Estudio retrospectivo de cuatro pacientes procedentes de tres familias con encefalopatía KCNB1, analizando características clínicas y electroencefalográficas de la epilepsia, manifestaciones neurológicas asociadas y patrón de neurodesarrollo. Resultados: En dos, la mutación en KCNB1 fue de novo; las otras dos, hermanas, heredaron la variante de un progenitor con mosaicismo germinal. Todos presentaban discapacidad intelectual leve-moderada; dos pacientes, trastorno del espectro autista; y otros dos, trastorno por déficit de atención/hiperactividad. Sólo el caso 2 mostro´ alteraciones en la resonancia magnética cerebral: atrofia cortical evolutiva. Tres desarrollaron epilepsia (casos 1-3). Caso 1: inicio a los 9,5 meses con síndrome de West bien controlado con vigabatrina y zonisamida. Caso 2: inicio a los 13 meses con síndrome de West; desarrollo evolutivo de crisis polimorfas (atónicas, hipermotoras, disautonómicas y tónicas) refractarias a 10 fármacos antiepilépticos y corticoides. Asocio´ trastorno del movimiento caracterizado por ataxia, discinesias y temblor. Caso 3: inicio a los 14,5 años con crisis atónicas, patrón multifocal en el electroencefalograma y adecuado control con levetiracetam. Conclusiones: La encefalopatía KCNB1 presenta una evolución natural heterogénea, principalmente respecto a la epilepsia, y se observan desde pacientes con epilepsia refractaria hasta pacientes sin crisis epilépticas...(AU)

Introduction: The KCNB1 gene encodes a voltage-dependent potassium channel that regulates transmembrane currents in pyramidal neurons. Heterozygous variants have recently been associated with early-onset epileptic encephalopathies and intellectual disability, but their clinical characterisation has not yet been fully defined. Aim: To describe the clinical spectrum associated with variants of KCNB1 in paediatric patients. Patients and methods. Retrospective study of four patients from three families with KCNB1 encephalopathy, including an analysis of the clinical and electroencephalographic features of epilepsy, associated neurological manifestations and neurodevelopmental pattern. Results: In two of them, the mutation in KCNB1 was de novo; the other two, who were sisters, inherited the variant from a parent with germline mosaicism. All had mild-to-moderate intellectual disability, two patients had autistic spectrum disorder and two had attention deficit hyperactivity disorder. Only case 2 displayed alterations in the MRI brain scan: progressive cortical atrophy. Three of them developed epilepsy (cases 1-3). Case 1: onset at 9.5 months with West syndrome that was well controlled with vigabatrine and zonisamide. Case 2: onset at 13 months with West syndrome, evolutionary development of polymorphic seizures (atonic, hypermotor, dysautonomic and tonic) that were refractory to 10 antiepileptic drugs and corticosteroids. Accompanied by a movement disorder characterised by ataxia, dyskinesias and tremor. Case 3: onset at 14.5 years with atonic seizures, multifocal EEG pattern and adequate control with levetiracetam.Conclusions: KCNB1 encephalopathy has a heterogeneous natural history, mainly with respect to epilepsy, ranging from patients with refractory epilepsy to patients without any epileptic seizures. All had neurodevelopmental disorders, such as intellectual disability or autism spectrum disorder, independent of epilepsy.(AU)

[Immunoadsorption and plasmapheresis: possible treatments for Rasmussen's encephalitis?] / Inmunoadsorción y plasmaféresis: ¿posibilidades de tratamiento en la encefalitis de Rasmussen?

TITLE: Inmunoadsorción y plasmaféresis: ¿posibilidades de tratamiento en la encefalitis de Rasmussen?

[Phenotypic and genetic features in neurofibromatosis type 1 in children]. / Características fenotípicas y genéticas en la neurofibromatosis tipo 1 en edad pediátrica.

INTRODUCTION: Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease, nevertheless the number of publications providing clinical and genetic data from a significant number of children is limited. MATERIAL AND METHODS: The available clinical, epidemiological, radiological and genetic data from 239 children with NF1, who attended at a specialist NF1 clinic between January 2011 and December 2013 were recorded. RESULTS: All the 239 patients had a clinical and/or genetic diagnosis of NF1. The mean age at diagnosis was 2.65±2.85 years. In our series 99.6% met the diagnostic criteria of café au lait spots, 93.7% those of axillary and inguinal freckling, 7.1% showed typical bone lesion, 38.1% neurofibromas, 23% plexiform neurofibromas, 31.4% optic pathway glioma, Lisch nodules were present in 43.1%, and 28% patients had a first degree relative affected with NF1. The NF1 genetic study was performed in 86 patients, and a description of the gene mutations found in 72 of them is presented. Furthermore, other clinical data previously associated with NF1, either because of their frequency or their severity, are detailed. CONCLUSIONS: The difficulty for clinical diagnosis of NF1 early ages is still evident. Although, the need for further studies in asymptomatic patients is discussed, cranial MRI in children with NF1 may be helpful in the clinical diagnosis, given the high frequency of optic glioma observed in this cohort.

[Gerstmann's syndrome in a 9 year old boy]. / Síndrome de Gerstmann en un varón de 9 años.

INTRODUCTION: Gerstmann's syndrome encompasses the tetrad of finger agnosia, agraphia, acalculia and right-left confusion and is associated with lesions of the left angular gyrus, situated at the confluence of the temporal, parietal and occipital lobes. The localizing value of this syndrome has been questioned because multiple mechanisms can account for each of the four components of the syndrome. This clinical association is infrequent in children and it is impossible to diagnose in early stages of life because of parietal lobes have a slow functional development during childhood. CLINICAL CASE: We present the case of a learning disabled boy, 9 year old and right handed, who developed Gerstmann's syndrome. Acalculia, right-left disorientation, agraphia and finger agnosia were clearly identified by neuropsychological studies at this time, but there was no evidence of this dysfunction when he was first studied being 5 year old. This patient had perinatal asphyxia and suffered from focal clonic seizures in early neonatal period. In this case, a infarcted lesion was found at the confluence of parietal and occipital lobes in cranial CT an MRI scans. CONCLUSION: We conclude that is very important to identify this syndrome during childhood using a wide range of neuropsychological tests in order to diminish learning disorders with an early psychopedagogic supervision.

[Optic neuropathy in biotinidase deficiency]. / Neuropatía óptica por déficit de biotinidasa.

CLINICAL CASE: We report a case of a 12 year old male with vision loss (0.1 in both eyes). He also had sensorineural hearing loss (cochlear implant), asthma, dermatitis and alopecia. He was diagnosed with retrobulbar optic neuropathy, and was started on a treatment of intravenous corticosteroids, showing no improvement. A screening for congenital metabolopathies revealed a biotinidase deficiency, and treatment with biotin achieved a rapid clinical improvement. DISCUSSION: When faced with an optic neuropathy in a child, we must always look for a biotinidase deficiency, because biotin therapy is the only treatment that achieves a clinical improvement.

[Anti-NMDA receptor encephalitis with unilateral hemispheric affectation]. / Encefalitis por anticuerpos contra el receptor de NMDA con afectacion hemisferica unilateral.

TITLE: Encefalitis por anticuerpos contra el receptor de NMDA con afectacion hemisferica unilateral.