[Paediatric status epilepticus]. / Estado epiléptico pediátrico.

INTRODUCTION: Status epilepticus is defined as the situation resulting from the failure of the mechanisms responsible for terminating an epileptic seizure. In 2015, an operational concept was adopted internationally in which two times are identified: a first time, at which treatment must begin (five minutes for convulsive status, 10-15 minutes for focal and non-convulsive status); and a second time, after which there is considered to be a high risk of subsequent sequelae (30 minutes in the case of the convulsive). It occurs in 3-42/100,000 children per year, who are refractory or super-refractory in 10-40% of cases. DEVELOPMENT: This article will review the different therapeutic options for status, from early treatment at home to the different first-line (benzodiazepines), second-line (phenobarbital, valproic acid, phenytoin, levetiracetam and lacosamide) or third-line treatments, which include both pharmacological (anaesthetics, propofol, ketamine, lidocaine, topiramate, brivaracetam or perampanel) and non-pharmacological (ketogenic diet, immunomodulatory treatments or epilepsy surgery) therapies. CONCLUSIONS: Early identification and treatment of a prolonged crisis are essential to prevent progression to status. Although with fewer sequelae than in adults, status epilepticus in children represents a cause of mortality of up to 3-5%, while 25% of them will develop subsequent epilepsy, as well as a considerable percentage of neurological sequelae.

TITLE: Estado epiléptico pediátrico.Introducción. El estado epiléptico se define como la situación resultante del fallo de los mecanismos responsables de finalizar una crisis epiléptica. En 2015, se adoptó internacionalmente un concepto operativo en el que se identifican dos tiempos: un primer momento, en el que hay que comenzar un tratamiento (cinco minutos para los estados convulsivos, 10-15 minutos para los estados focales y no convulsivos); y un segundo tiempo, a partir del cual se considera que hay un riesgo elevado de secuelas posteriores (30 minutos en los convulsivos). Ocurre en 3-42/100.000 niños al año, y son refractarios o superrefractarios en el 10-40% de las ocasiones. Desarrollo. En este artículo se revisarán las diferentes opciones terapéuticas del estado, desde el tratamiento precoz domiciliario hasta los diferentes tratamientos de primera línea (benzodiacepinas), segunda línea (fenobarbital, ácido valproico, fenitoína, levetiracetam y lacosamida) o tercera línea, que incluyen tanto terapias farmacológicas (anestésicos, propofol, cetamina, lidocaína, topiramato, brivaracetam o perampanel) como no farmacológicas (dieta cetógena, tratamientos inmunomoduladores o cirugía de epilepsia). Conclusiones. Son fundamentales la identificación y el tratamiento precoz de una crisis prolongada para evitar la evolución a estado. Aunque con menores secuelas que en los adultos, el estado epiléptico en niños representa una causa de mortalidad hasta del 3-5%, al mismo tiempo que un 25% de ellos desarrollará una epilepsia posterior, así como un porcentaje considerable de secuelas neurológicas.

[Epilepsy, cognition and ketogenic diet]. / Epilepsia, cognicion y dieta cetogenica.

INTRODUCTION: Most individuals with epilepsy will respond to pharmacologic treatment; however, approximately 20-30% will develop medically refractory epilepsy. Cognitive side effects of antiepileptic drugs are common and can negatively affect tolerability, compliance, and long-term retention of the treatment. Ketogenic diet is an effective and well-tolerated treatment for these children with refractory epilepsy without any negative effect on cognition or behavior. AIM: To review the current state of experimental and clinical data concerning the neuroprotective and cognitive effects of the ketogenic diet in both humans and animals. DEVELOPMENT: In different animal models, with or without epilepsy, the ketogenic diet seems to have neuroprotective and mood-stabilizing effects. In the observational studies in pediatric epilepsy, improvements during treatment with the ketogenic diet are reported in behavior and cognitive function, particularly with respect to attention, alertness, activity level, socialization, and sleep quality. One randomized controlled trial in patients with pediatric refractory epilepsy showed a mood and cognitive activation during ketogenic diet treatment. CONCLUSIONS: Ketogenic diet shows a positive impact on behavioral and cognitive functioning in children and adolescents with refractory epilepsy. More specifically, an improvement is observed in mood, sustained attention, and social interaction.

TITLE: Epilepsia, cognicion y dieta cetogenica.Introduccion. Aunque generalmente se controlan bien con medicacion, hasta un 20-30% de las epilepsias infantiles son refractarias al tratamiento farmacologico. Los efectos adversos cognitivos de los farmacos antiepilepticos son frecuentes y pueden afectar negativamente la tolerabilidad, el cumplimiento y el mantenimiento a largo plazo del tratamiento antiepileptico. La dieta cetogenica es un tratamiento eficaz y bien tolerado para las epilepsias infantiles refractarias y no muestra efectos adversos negativos sobre cognicion o conducta. Objetivo. Revisar la evidencia actual existente con respecto a los estudios experimentales y clinicos que analizan los efectos neuroprotectores y cognitivos de la dieta cetogenica, tanto en humanos como en animales de experimentacion. Desarrollo. La dieta cetogenica muestra efectos neuroprotectores y estabilizadores del estado de animo en diversos modelos animales, con o sin epilepsia. En los estudios observacionales en epilepsia infantil se refieren mejorias en cognicion y conducta durante el tratamiento con dieta cetogenica, especialmente evidentes en atencion, nivel de alerta y actividad, socializacion y calidad del sueño. En un estudio aleatorizado controlado en pacientes con epilepsia infantil refractaria, la dieta cetogenica mostro una activacion evolutiva evidente sobre la cognicion y el estado de animo. Conclusiones. La dieta cetogenica tiene un impacto positivo sobre el funcionamiento conductual y cognitivo en niños y adolescentes con epilepsia refractaria. Esta mejoria es mas evidente con respecto a estado de animo, atencion sostenida e interaccion social.

[Infantile epileptic encephalopathies: what matters is genetics]. / Encefalopatias epilepticas del lactante: lo prioritario es el estudio genetico.

INTRODUCTION: Epileptic encephalopathies in infancy are defined as conditions where the sustained epileptic activity itself may contribute to the severe neurological and cognitive impairment. These epileptic encephalopathies include Ohtahara syndrome, early myoclonic epileptic encephalopathy, West syndrome, Dravet syndrome, and malignant migrating epilepsy in infancy. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects. AIM: To present and discuss current knowledge regarding genetic findings in epileptic encephalopathies in infancy, phenotype-genotype correlations in different forms of paediatric epileptic encephalopathies, and the impact of these new findings in clinical practice. DEVELOPMENT: Patients with unclear etiologies after performing a brain magnetic resonance imaging should be considered for a further workup, which should include an evaluation for genetic defects. Nowadays, more than 50 genes have been associated with epileptic encephalopathies in infancy. Targeted next-generation sequencing panels show a high diagnostic yield in patients with epileptic encephalopathies. CONCLUSIONS: Genetic knowledge about epileptic encephalopathies in infancy has revolutionized the diagnostic approach to these disorders, and an increasing number of gene mutations have been related to their pathogenesis. A more detailed classification of epileptic encephalopathies genotypes will improve the accuracy of genotype-phenotype correlation and genetic counseling. All these developments could yield therapeutic applications such as gene therapy or antiepileptic drugs 'tailored' to the specific genetic markers or targets.

TITLE: Encefalopatias epilepticas del lactante: lo prioritario es el estudio genetico.Introduccion. Las encefalopatias epilepticas del lactante constituyen un grupo de entidades donde la actividad epileptica mantenida contribuye por si misma al deterioro neurologico y cognitivo del paciente. Entre ellas se incluyen el sindrome de Ohtahara, la encefalopatia mioclonica precoz, el sindrome de West, el sindrome de Dravet y la epilepsia migratoria maligna del lactante. Estos sindromes se originan por etiologias variadas, incluyendo lesiones estructurales cerebrales, enfermedades metabolicas y heredodegenerativas, y alteraciones geneticas, entre otras. Objetivo. Presentar y discutir el conocimiento actual sobre los hallazgos geneticos en las encefalopatias epilepticas del lactante, el potencial correlato genotipo-fenotipo en las distintas formas de encefalopatias epilepticas y el impacto de estos nuevos hallazgos en la practica clinica. Desarrollo. En los lactantes con encefalopatias epilepticas, sin una etiologia definida tras realizar una resonancia magnetica cerebral, debe considerarse un abordaje etiologico que excluya patologias geneticas. En la actualidad, mas de 50 genes se han asociado con la etiologia de las encefalopatias epilepticas del lactante. Los paneles de multiples genes analizados por tecnicas de secuenciacion masiva son una herramienta util para el diagnostico genetico de estos pacientes. Conclusiones. El conocimiento sobre la genetica de las encefalopatias epilepticas del lactante ha revolucionado el abordaje diagnostico y cada vez se implican mas genes y distintos tipos de mutaciones en la patogenia de estas patologias. El desarrollo de clasificaciones especificas para las encefalopatias epilepticas geneticas puede contribuir a un mejor correlato genotipo-fenotipo, a orientar mejor el consejo genetico y a considerar terapias especificas.

[Learning disorders in neurofibromatosis type 1]. / Trastornos de aprendizaje en la neurofibromatosis tipo 1.

INTRODUCTION: Neurocognitive deficits and academic learning difficulties are the most common neurologic complication of neurofibromatosis type 1 (NF1) in childhood and can be responsible for significant lifetime morbidity. Children with NF1 show impairments in attention, visual perception, language, executive function, academic skills, and behavior. Studies in animal models suggest that the learning disabilities associated with NF1 are caused by excessive Ras activity that leads to increased gamma-aminobutyric acid (GABA) inhibition and to decreased long-term potentiation. AIM: To describe the frequency, severity, typology, and natural course of specific cognitive deficits in children with NF1. DEVELOPMENT: Cognitive and behavioral disorders affect between 50-80% of all children with NF1. We can define three subtypes of cognitive profiles in children with NF1 and learning disorder, including global learning disorder, specific learning disorder, and isolated attention deficit hyperactivity disorder. The most common cognitive deficits are connected with visual-spatial impairment, however working memory and executive function deficits associated with prefrontal cortex dysfunction are also important. CONCLUSIONS: There is an extremely high frequency of cognitive problems in children with NF1, making cognitive dysfunction the most common complication to affect quality of life in these children. Early diagnosis and treatment of learning disorders in these patients leads to improved academic outcome.

TITLE: Trastornos de aprendizaje en la neurofibromatosis tipo 1.Introduccion. Los deficits neurocognitivos y las dificultades de aprendizaje representan las complicaciones neurologicas mas frecuentes de la neurofibromatosis tipo 1 (NF1) en la edad pediatrica y son responsables de una importante morbilidad evolutiva. Los niños con NF1 muestran alteraciones en atencion, percepcion visual, lenguaje, funciones ejecutivas, logros academicos y conducta. Los estudios en modelos animales sugieren que las alteraciones de aprendizaje en la NF1 se relacionan con una potenciacion de la actividad Ras que conduce a un incremento de la inhibicion mediada por el acido gamma-aminobutirico (GABA) y a una disminucion de la potenciacion sinaptica a largo plazo. Objetivo. Describir la frecuencia, gravedad, tipologia y evolucion natural de los deficits neurocognitivos especificos de la NF1. Desarrollo. Los trastornos neurocognitivos y conductuales afectan al 50-80% de los niños con NF1. Se pueden definir tres subtipos de perfiles cognitivos en la NF1, incluyendo trastorno de aprendizaje global, trastorno especifico de aprendizaje y trastorno por deficit de atencion/hiperactividad aislado. Los deficits cognitivos mas frecuentes se relacionan con la alteracion visuoespacial, aunque tambien son importantes las alteraciones de la memoria de trabajo y de la funcion ejecutiva asociadas con la disfuncion de la corteza prefrontal. Conclusiones. Existe una gran frecuencia global de problemas cognitivos en la NF1, lo cual implica que la disfuncion neurocognitiva sea la mayor complicacion medica que afecta la calidad de vida de estos pacientes. El diagnostico y el tratamiento precoces de los trastornos de aprendizaje en estos niños son basicos para conseguir un mejor desempeño academico.

[Reversible alterations in the neuroimages associated with vigabatrine treatment in infants with epileptic spasms]. / Alteraciones reversibles en la neuroimagen asociadas al tratamiento con vigabatrina en lactantes con espasmos epilepticos.

INTRODUCTION: Vigabatrin (VGB) is a first-line drug for the treatment of infantile spasms. Recently, several reports claim the existence of abnormalities in magnetic resonance imaging (MRI) (particularly affecting basal ganglia, and visible in T2 and diffusion sequences) in infants with spasms that were receiving high doses of VGB (> 100 mg/kg/day), which appear to be reversible after withdrawal of treatment. CASE REPORTS: We present two cases with an epileptic encephalopathy in the first year of life and seizures consisting of infantile spasms. Both were treated with several antiepileptic drugs, including VGB up to a maximum dosage of 200 mg/kg/day. At the age of 11 and 28 months, respectively, MRI images showed marked signal hyperintensities on T2-sequences on bilateral globus pallidus, thalamus, posterior portion of the brainstem and dentate nuclei, also visible on diffusion sequences. Both had previous unaltered MRI studies. After excluding an underlying metabolic disease, VGB withdrawal is decided, appreciating the reversibility of those lesions in a prospective MRI study, three months later. CONCLUSIONS: We must consider and carefully evaluate findings on brain MRI in infants receiving VGB at high doses for treatment of spasms. The apparent cytotoxic effect on basal ganglia could simulate metabolic/mitochondrial diseases. By knowing this effect of VGB and its typical MRI features, unnecessary testing can be avoided in young infants with epileptic encephalopathies, including complex procedures like muscle biopsy or a new metabolic screening.

TITLE: Alteraciones reversibles en la neuroimagen asociadas al tratamiento con vigabatrina en lactantes con espasmos epilepticos.Introduccion. La vigabatrina (VGB) es un farmaco de primera linea para el tratamiento de espasmos infantiles. Diversos estudios han hallado anomalias en la resonancia magnetica (RM) cerebral, que afectaban particularmente a los ganglios de la base, y especialmente en secuencias de difusion, en lactantes con espasmos que recibian VGB en altas dosis (> 100 mg/kg/dia), y se ha observado la desaparicion de las lesiones tras la retirada de dicho tratamiento. Casos clinicos. Se presentan dos casos clinicos con inicio de una encefalopatia epileptica en el primer año de vida y crisis en forma de espasmos infantiles. Ambos recibieron tratamiento con distintos farmacos, entre ellos VGB hasta dosis de 200 mg/kg/dia. Con 11 y 28 meses de vida, respectivamente, aparecian imagenes en la RM cerebral con una marcada hiperintensidad de señal en secuencias ponderadas en T2 en ambos palidos, talamos, porcion posterior del tronco encefalico y nucleos dentados, que asociaban restriccion en secuencias de difusion. Ambos disponian de estudios previos de RM, sin alteraciones. Tras excluir una metabolopatia subyacente, se decidio la retirada de la VGB y tres meses despues, en una RM de control, se aprecio la total reversibilidad de dichas lesiones. Conclusiones. Deben evaluarse con cautela los hallazgos de la RM cerebral en lactantes que reciban VGB en altas dosis para el tratamiento de espasmos. Su aparente efecto citotoxico sobre los ganglios de la base podria simular metabolopatias/enfermedades mitocondriales. Conocer este efecto de la VGB y sus caracteristicas tipicas en la RM puede evitar pruebas innecesarias, como una biopsia muscular o un nuevo cribado metabolico.

[Syringomyelias in paediatrics: a retrospective study of 25 cases]. / Siringomielias en pediatria: estudio retrospectivo de 25 casos.

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

TITLE: Siringomielias en pediatria: estudio retrospectivo de 25 casos.Introduccion. Se define siringomielia como una cavidad que contiene liquido cefalorraquideo dispuesta en el interior de la medula espinal. Objetivo. Describir las caracteristicas clinicas de una serie de pacientes con siringomielia, su diagnostico y tratamiento. Pacientes y metodos. Estudio descriptivo retrospectivo realizado mediante la revision de historias clinicas en nuestro centro. Resultados. Se revisaron 25 pacientes diagnosticados de siringomielia. En cinco el diagnostico fue casual y ocho presentaban una patologia grave previa (tumoral, osea o vascular). Dos pacientes comenzaron con hidrocefalia y clinica de hipertension intracraneal y unicamente dos destacaban cefalea como unico sintoma. Cuatro presentaron escoliosis progresiva, dos de ellos como queja inicial, y precisaron cirugia con artrodesis y uso de corse, respectivamente. Destaca la precocidad del diagnostico. La mayoria presentaba unicamente perdida de fuerza leve, con potenciales somatosensoriales y electromiograma normales. En todos se hicieron controles con resonancia magnetica. Ocho pacientes precisaron craniectomia descompresiva con laminectomia posterior C1-C2, con drenaje de la cavidad siringomielica en cuatro. Nueve requirieron valvula de derivacion y dos precisaron, ademas, ventriculostomia. Conclusiones. La presencia de siringomielia en pediatria es rara, y se asocia generalmente a malformaciones en la fosa posterior y antecedentes de disrafismo espinal. Destaca la escoliosis progresiva como posible manifestacion aislada. Un abordaje multidisciplinar con controles radiologicos seriados y la valoracion por servicios de neurologia y neurocirugia pediatricos son mandatorios para su seguimiento.

[Cerebellar cognitive affective syndrome secondary to a cerebellar tumour]. / Síndrome afectivo-cognitivo cerebeloso secundario a tumor cerebeloso.

Cerebellar cognitive affective syndrome is characterized by disturbances of executive function, impaired spatial cognition, linguistic difficulties, and personality change. The case of an 11 year old boy is presented, with behavior problems, learning difficulties and social interaction problems. In the physical examination he had poor visual contact, immature behavior, reduced expressive language and global motor disability with gait dyspraxia, with no defined cerebellar motor signs. In the neuropsychological evaluation he has a full scale overall intellectual quotient of 84, with signs of cerebellar cognitive affective syndrome. A tumour affecting inferior cerebellar vermis was observed in the magnetic resonance imaging, which had not significantly grown during 5 years of follow up. The cerebellum participates in controlling cognitive and affective functions. Cerebellar pathology must be considered in the differential diagnosis of children with cognitive or learning disorder with associated behavioral and emotional components.

[Neurocognitive dysfunction in electrical status epilepticus during slow-wave sleep syndrome: Can the natural course of the syndrome be modified with early pharmacological treatment?]. / Disfunción neurocognitiva en el síndrome de estado de mal eléctrico durante el sueño lento: podemos modificar la evolución natural del síndrome con un tratamiento farmacológico precoz?

INTRODUCTION: Epileptic syndromes with continuous spike wave in slow-wave sleep (CSWS), including electrical status epilepticus in sleep (ESES) and Landau-Kleffner syndrome, are true epileptic encephalopathies where sustained epileptic activity is related to cognitive and behavioural decline. AIMS: To review the natural course of ESES, to define the general principles of treatment of epileptic syndromes with CSWS, to delineate the different options that are currently available for treating these epileptic encephalopathies, and to analyze the prognostic factors linked to pharmacological treatment of ESES. DEVELOPMENT: Epileptic syndromes with CSWS are initially treated with a pharmacologic intervention with polytherapy of antiepileptic drugs in most cases. However, due to the poor response that CSWS often have to antiepileptic drugs, non-pharmacologic treatment options are an important part of a comprehensive treatment plan for this group of children. This article discusses the use of corticosteroids, intravenous immunoglobulins, ketogenic diet, vagus nerve stimulation, and epilepsy surgery in the treatment of patients with epileptic syndromes with CSWS. CONCLUSIONS: Treatment of ESES extends beyond just control of the seizures; amelioration of the continuous epileptiform discharge must occur to improve neuropsychological outcome. There is a significant correlation between the length of the ESES period and the extent of residual intellectual deficit at follow-up. According to this knowledge, there is a well defined therapeutic interval where our different strategies of treatment may be useful, and the upper limits of this time frame to a critical period of 12-18 months.

[Presurgery neuropsychological evaluation in pediatric focal epilepsies]. / Evaluación neuropsicológica prequirúrgica en epilepsias focales pediátricas.

INTRODUCTION: Neuropsychological assessment is included in the protocols for evaluation of epilepsy surgery candidates, providing information about the patient's cognitive dysfunctions, allowing for prediction of possible cognitive deficits derived from surgery and yielding objective measures of any post-surgical changes. Neuropsychological disturbances constitute an important co-morbidity of medically intractable epilepsy. An early epilepsy onset in infancy may lead to cognitive dysfunctions that are atypical in terms of brain localization, due to the inherent plasticity and reorganization processes of the immature brain. The analysis of the neuropsychological profiles of paediatric focal epilepsies is much more complex than in the adult population. DEVELOPMENT AND CONCLUSIONS: In this paper, we review the neuropsychological disturbances associated to focal epilepsies (posterior cortex, temporal and frontal epilepsies), stressing the point that there is a considerable lack of rigorous studies on the topic in the literature, in spite of this being an essential part of the presurgical work-up in epilepsy patients.

[Benign intracranial hypertension and heterozygosity for factor V Leiden mutation]. / Hipertensión intracraneal benigna y heterocigosis para el factor V de Leiden.

Benign idiopathic intracranial hypertension (BIH) in association with prothrombotic conditions has been reported with increasing frequency in the medical literature. Recently, activated protein C resistance (APCR) has been identified as a factor in some cases. Because of its high prevalence, factor V Leiden mutation (FVL) is the most frequent coagulation abnormality associated with cerebral venous thrombosis. Reduced craniospinal fluid reabsorption due to damaged arachnoid villi secondary to microthrombus formation has been proposed as an explanation for the physiopathology of BIH and FVL. We describe two patients with a diagnosis of BIH, in whom the only risk factor was heterozygosity for FVL mutation.

[Cervical spinal cord compression in chondrodysplasia punctata: report of two cases]. / Compresión de la médula cervical en la condrodisplasia punctata: presentación de dos casos.

AIM: To present two patients with chondrodysplasia punctata and cervical spine compression who had a chronic myelopathy. CASE REPORTS: The patients are a boy who was seen in our service at 13 years of age because of a progressive spastic quadriparesis since infancy and muscle spasm, and a girl, actually 15-year-old, who was studied by us since 2 years of age because of the same problem and moderate mental retardation. Magnetic resonance study disclosed narrowing of the spinal canal at the level of C1-C2 and C5-C6. Surgical decompression was performed in both cases. The case 2 also received physiotherapy, myorrelaxing medication and botulinum toxin treatments. The case 2 has short stature and intellectual level below normality. CONCLUSION: Chondrodysplasia punctata, that exhibits well defined clinical and radiological manifestations, is a disease that can present spinal cord compression during the first years of life. However, other pathological causes of still unknown origin may contribute to the progressive evolution and lack of recuperation of the problems derived of the spasticity as well as the mental retardation and the short stature.

CNS sequelae in Langerhans cell histiocytosis: progressive spinocerebellar degeneration as a late manifestation of the disease.

Central nervous system involvement in Langerhans cell histiocytosis (LCH), formerly known as histiocytosis X, is manifested mainly by diabetes insipidus reflecting local infiltration of Langerhans cells into the posterior pituitary or hypothalamus. We describe two patients with progressive spinocerebellar degeneration appearing 4 and 6 years after the initial diagnosis of LCH. No correlation was found between the clinical course of the disease or its treatment and the neurological impairment. An extensive search for metabolic, toxic, neoplastic, and hereditary etiologies for progressive cerebellar degeneration was negative.

[A case of mixed (parenchymatous meningo-basal) neurocysticercosis]. / Presentación de un caso de neurocisticercosis mixta (parenquimatosa-meningobasal).

INTRODUCTION: Cysticerosis is the commonest parasitic disease to affect the central nervous system (CNS). Distribution is universal. It is endemic in many developing countries and in the Third World. CNS cysticercoses or neurocysticercosis may be classified according to its site in three main groups: parenchymatous, extra-parenchymatous and mixed. The clinical features vary from casual findings to fulminating encephalitis. The commonest presenting symptoms are intracranial hypertension (HIC) in the extra-parenchymatous forms and convulsions in the parenchymatous forms. CLINICAL CASE: We present the case of an eight-year-old Peruvian boy with the clinical features of progressive intracranial hypertension. Cerebro-spinal fluid (CSF) serological and neuro-imaging findings were compatible with mixed neurocysticercosis (parenchymatous calcifications and an active meningobasal lesion). We also describe the neuro-radiological changes seen in the course of the illness of our patient after treatment with albendazol. These are mainly the reduction in size and progressive calcification of the active meningobasal lesion. CONCLUSIONS: We propose a neuro-radiological classification based on that of Carpio et al as a method of helping to decide on anti-parasitic treatment. We emphasize the importance of the findings on cranial magnetic resonance (MR), using gadolinium to differentiate the various stages of the disease. Finally, we draw attention to the possible increase in this disease in our environment, due to the current increase in migration from endemic areas of Latin America.

[Evolutive neuroradiological alterations in Sandhoff's disease]. / Alteraciones neurorradiológicas evolutivas en la enfermedad de Sandhoff.

Sandhoff's disease is a severe form of gangliosidosis GM2 which presents in the first year of life, basically as progressive psychomotor retardation and/or a macular red cherry spot. Our patient presented the clinical picture characteristic of the disease. Diagnosis was confirmed by determining the activity of hexosaminidases A and B in serum and of beta-N-acetil hexosaminases in fibroblast culture. In view of the fatal prognosis of the disease, in 1991 a transplant of alogenic bone marrow (TMO) was carried out to try to replace the enzymes. This required exhaustive radiological follow-up to determine the possible neuro-radiological changes seen in this storage disease. Although treatment was not successful, the neuro-radiological findings may be of interest as perhaps being characteristic of the GM2 gangliosidosis: 1. Bilateral thalamic hyperecogenity in the cerebral ecography. 2. Differences between the thalamo-putamen densities due to bilateral homogeneous thalamic hyperdensity on the CT scan. 3. Thalamic hypointensity both on T2 sequences and in proton density on MR with the cerebral white matter being progressively affected. In conclusion, we suggest that bilateral symmetrical thalamic changes are an early finding which is probably specific to the GM2 gangliosidoses and may be useful from the point of view of carrying out more specific investigations in infants suspected of having a degenerative neurological disorder.

Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: a complex neurocutaneous syndrome.

PURPOSE: To describe the vascular and nonvascular intracranial and extracranial anomalies associated with hemangiomas and vascular malformations of the face, neck, and/or chest. METHODS: Seventeen patients had a physical examination and imaging studies consisting of one or more of the following: pneumoencephalography, conventional carotid and vertebral arteriography, CT, MR imaging, and MR angiography. RESULTS: Conventional arteriography revealed persistence of the trigeminal artery in 5 cases, absence of internal or external carotid and/or vertebral arteries in 11 cases, persistence of intervertebral arteries in 1 case, deformities of the aortic arch in 3 cases, and anomalies of the intracranial arteries in 3 cases. MR angiography revealed persistence of the trigeminal artery in 1 case in which conventional arteriography failed to show the malformation, and permitted visualization of narrowing of the intracranial arteries. CT and MR imaging showed a cerebellar anomaly in 8 cases and cerebral cortical dysplasia with cerebral hemispheric hypoplasia in 1 case. Vascular and nonvascular anomalies appeared ipsilateral to the external vascular abnormalities in most cases. CONCLUSION: This study demonstrates the association of cutaneous angiomas with anomalies affecting intracranial and extracranial arteries, the cerebellum, and, less frequently, the cerebral hemispheres and aortic arch. This association constitutes a relatively frequent neurocutaneous disorder, which we call the cutaneous hemangioma-vascular complex syndrome.