Síndrome de Savant / Savant syndrome

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Crisis epilépticas: delimitación conceptual, clasificación y criterios diagnósticos / Epileptic seizures: Conceptual definition, classification and diagnostic criteria

Se exponen las definiciones de las crisis epilépticas y de los síndromes epilépticos y epilepsias según las Clasificaciones Internacionales vigentes y se delimitan los criterios Internacionales vigentes, y se delimitan los criterios necesarios para establecer el diagnóstico electro-clínico de certeza de las epilepsias. Asimismo, se mencionan las modificaciones taxonómicas y conceptuales de las epilepsias, a la luz de los avances acaecidos en las dos últimas décadas en el conocimiento de los mecanismos fundamentales neuronales implicados en las crisis epilépticas en los diversos campos de las ciencias cognitivas. En este sentido, se hace especial mención del Esquema Diagnóstico de Crisis Epilépticas y Epilepsias propuesto en 2001 por la Comisión de Clasificación y Terminología de la Liga Internacional contra la Epilepsia (AU)

The definitions of the epileptic seizures and epileptic syndromes and epilepsies are explained according to the existing International Classifications. Furthermore the criteria necessary to establish the electro-clinical certainty diagnosis of epilepsies are defined. In addition, taxonomic and conceptual modifications of epilepsies are mentioned based on the advances occurring in the last two decades in the know-ledge of fundamental neuronal mechanisms involved in epileptic seizures in the different fields of cognitive sciences. In this sense, special mention is made to the Diagnostic diagram of Epileptic Seizures and Epilepsies proposed in 2001 by the Classification and Terminology Committee of the International League against Epilepsy (AU)

[Rasmussen's syndrome, an autoimmune disease]. / Síndrome de Rasmussen: una enfermedad autoinmune.

Rasmussen's disease is an inflammatory, chronic and progressive brain disorder that usually presents with neocortical focal seizures resistant to conventional treatment and culminates in severe deterioration with hemiparesis, cognitive decline and aphasia. Viral infections and antibodies to the GluR3 receptor have been implicated in the physiopathology of this illness and T-cell mediation may play a role in the cerebral inflammatory process. Classical treatment consists of hemispherectomy of various magnitudes depending on cerebral involvement. The association between therapy-resistant epilepsy and autoimmune phenomena due to antibodies against glutamic acid decarboxylase (anti-GAD) have very recently begun to be studied. The discovery of this association led to a new focus and alternative therapies with immunosuppressors, immunoglobulins, steroids and plasmapheresis, alone or in combination, have begun to be tested with variable success. We describe a boy who was diagnosed in the early stages of Rasmussen's syndrome. He tested positive for anti-GAD antibodies and received treatment with immunoglobulins and steroids. After treatment the boy tested negative for anti-GAD antibodies and he remains asymptomatic after ten months.

Trastorno de déficit de atención con hiperactividad. El niño hiperactivo / Attention deficit disorder with hyperactivity (ADDH). The hiperactive children

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Miofibromatosis infantil sistémica en un lactante / Systemic myofibromatosis in an infant

La miofibromatosis infantil se caracteriza por la presencia de nódulos fibrosos, solitarios o multicéntricos, en la piel, músculo, hueso y/o vísceras internas. A pesar de ser una entidad rara y por lo tanto poco conocida por los pediatras, constituye el tumor fibroso más frecuente en la infancia. Las lesiones cutáneas aisladas presentan muy buen pronóstico. Sin embargo, en ciertos casos hay afectación sistémica. En estos casos, puede producir importantes complicaciones e incluso ser causa de muerte, sobre todo en los primeros meses de vida. Estas complicaciones se deben a su naturaleza localmente destructiva, obstrucción de órganos vitales, retraso en el crecimiento o infección. Se presenta el caso de un lactante que en el momento del nacimiento sólo presentaba lesiones cutáneas. Con el tiempo se han hecho evidentes lesiones óseas y en órganos internos. Incluso presentó dificultad respiratoria por parálisis diafragmática que requirió ingreso en la unidad de cuidados intensivos (UCI) pediátrica. Se recomienda el seguimiento estrecho de todos los pacientes con miofibromatosis congénita para evitar o diagnosticar precozmente estas complicaciones (AU)

[Systemic myofibromatosis in an infant]. / Miofibromatosis infantil sistémica en un lactante.

Infantile myofibromatosis is characterized by the presence of solitary or multicentric fibrous nodules in skin, muscle and/or internal organs. Despite being an infrequent entity, and consequently little known by pediatricians, it constitutes the most frequent fibrous tumor in children. Solitary cutaneous lesions have a very good prognosis but in some cases there is systemic involvement. In these cases the disease can produce serious complications and even put the patient's life at risk, especially during the first months of life. These complications are due to the locally invasive nature of the nodules, obstruction of vital organs, growth retardation or infection. We present the case of an infant who at birth presented a skin nodule only. Over time, the infant presented lesions in skin, bone and internal organs. The infant showed respiratory distress requiring mechanical ventilation due to diaphragmatic paralysis. We recommend close follow-up of all patients with infantile myofibromatosis to prevent or make an early diagnosis of these complications

[Cohen's syndrome: non-causal association with vascular rings]. / Síndrome de Cohen: asociación no casual con anillos vasculares.

Cohen syndrome is an autosomal recessive disorder characterized by hypotonia, mental retardation, microcephalia, typical craniofacial features, myopia and chorioretinal dystrophy. The responsible gene has been mapped to chromosome 8q 22 (COH 1). Since it was described more than 100 patients have been reported. However, none of them has been associated with vascular rings. Our hospital has studied eight pediatric cases and 25% of them were related with vascular rings.

Síndrome de Cohen: asociación no casual con anillos vasculares / Cohen's syndrome non-causal association with vascular rings

El síndrome de Cohen es un trastorno autosómico recesivo que se caracteriza por la asociación de obesidad, hipotonía, retraso mental, microcefalia, dismorfia craneofacial típica, miopía y distrofia coriorretiniana. Se ha localizado el locus para el síndrome de Cohen en el cromosoma 8q 22 (COH 1). Desde su descripción más de cien pacientes han sido comunicados, no presentando ninguno de ellos asociación con anillos vasculares. Presentamos ocho casos pediátricos diagnosticados en nuestro hospital, la mayor serie publicada en España, de las cuales un 25 por ciento se asociaron con anillos vasculares (AU)

[Reflex benign myoclonic epilepsy of childhood. Apropos of a new case]. / Epilepsia mioclónica benigna refleja de la infancia. A propósito de una nueva observación.

INTRODUCTION: Recently a series of cases has been reported characterized by myoclonic crises similar to those occurring in benign myoclonic epilepsy of childhood. However, these crises only occurred after unexpected tactile or auditory stimuli. These clinical conditions represent a new epileptic syndrome, which is age-dependent and has been called benign myoclonic epilepsy of childhood. CLINICAL CASE: We present the case of a 12 month old girl with myoclonic crises which occurred only after auditory or tactile stimuli. The myoclonia could be set off whilst awake or asleep. No other types of crises or neurological changes were seen. A brother of the patient had had febrile convulsions. The EEG recorded during the crises showed generalized brief spike-and-wave discharges at 3 cycles/second. The intercritical EEG was normal whilst awake, but during sleep showed brief generalized discharges. After treatment with valproate was started the crises became less frequent. CONCLUSIONS: The case we describe is similar to those described by Ricci et al in 1995. We, therefore, consider it to fit the concept of reflex myoclonic epilepsy of childhood of benign character. We consider that this condition should be differentiated from other reflex epilepsies and epileptic syndromes with a predominance of myoclonia, including benign myoclonic epilepsy of childhood.

[Incidence of epilepsy and epileptic syndromes in children in the province of Albacete]. / Incidencia de las epilepsias y síndromes epilépticos de la infancia en la provincia de Albacete.

OBJECTIVE: The purpose of this study was to determine the incidence rate and the relative frequency of epilepsy and epileptic syndromes during childhood in the province of Albacete. PATIENTS AND METHODS: Patients with childhood epilepsy living in the area have been diagnosed in the Neuropediatric Unit at the General Hospital of Albacete. We included patients under 11 years of age with unprovoked recurring epileptic seizures whose first seizure happened between 1-1-1987 and 1-12-1991, excluding those who have only suffered from febrile seizures and other provoked epileptic seizures. RESULTS: In the five-year period of the study, 136 patients from a population of 60,000 children under 11 years of age suffered from epilepsy. The annual incidence rate of epilepsy at this age is 45 in 100,000. For those under 1 year it is 113, for those aged 1 to 5 it is 52, and for those between 6 and 10 years 30. The most common epileptic syndrome is benign childhood epilepsy with centrotemporal spikes (29%), followed by undefined generalized idiopathic epilepsy (16%), symptomatic partial epilepsy (15%) and childhood absence epilepsy (9%). CONCLUSIONS: The epilepsy incidence rates reported here are lower than those found in most studies. Nevertheless, these results agree with some more recent studies. Benign childhood epilepsy with centrotemporal spikes is the most frequent epileptic syndrome during childhood.

[Septo-optic dysplasia: report of 6 patients studied with MR and discussion on its pathogenesis]. / Displasia septo-óptica: presentación de seis pacientes estudiados mediante RM y discusión de su patogenia.

OBJECTIVE: Septo-optic dysplasia, which consists of the association of the hypoplasia of the optic nerves and the agenesis of the septum pellucidum, is frequently associated with deficiency of hypothalamic releasing factors. In Magnetic Resonance (MR) of these patients, anomalies in the form and size of the pituitary stalk, adenohypophysis and neurohypophysis are found. Some cases show schizencephaly and it has been proposed as an added component of the syndrome by some authors. This fact has been refuted by others. PATIENTS AND METHODS: We present the clinical and neuroanatomic revision of six children with septo-optic dysplasia studied by MR imaging over the last five years in our Department of Neuropediatrics. The aim was, that through the neuroembryological discussion of the morphopathological aspects of the patients, to determine the malformation and the time in which the injury, which was the underlying cause, occurred. RESULTS: From the six cases, in two only disruptive signs were evident with the optic nerves being affected asymmetrically, disruption of the corpus callosum, falx cerebri indemnity and effects in the cortex conformation. This was opposed to the dysgenic features in the other four cases which had no disruptive features. CONCLUSIONS: Our findings suggest that this entity could be the result of at least two different pathogenic processes, that is, a minor form of holoprosencephaly (dysgenesis) or a disruption which, therefore, occurs later in gestation.

[Acute intermittent familial ataxia: report of a new family]. / Ataxia aguda intermitente familiar. Description de una nueva familia.

INTRODUCTION. Acute intermittent familial ataxia is a rare disorder with autosomal dominant inheritance and unknown etiology which usually in childhood or adolescence. CASE 1. A 33-years-old woman who suffered from giddiness, gait ataxia, dysarthria and somnolence episodes. These episodes lasted between 4 and 72 hours. They generally occurred within a framework of emotional or physical stress. The following tests were performed: hemogram and biochemistry, blood and urine toxicology, immunological tests, cerebrospinal-fluid study, electrocardiogram, electroencephalogram, trunk and visual evocated potentials, cerebral computed tomography and cerebral magnetic resonance imaging. None of them gave significative results. CASE 2. A 12-years-old boy, son of the previous woman, who suffered from somnolence, gait ataxia and dysarthria with acute beginning. The same tests than in the above case were performed together with metabolic studies. There were no pathological findings in this case, either. The symptoms disappeared gradually in 6 days. His familial history led to a diagnosis of acute intermittent familial ataxia. A year later he suffered from a similar disorder and he was immediately treated with acetazolamide. The symptoms disappeared in 2 hours. CONCLUSIONS. Acute intermittent familial ataxia is a disorder of difficult identification. It can be easily confused with other periodical ones, because its diagnosis has to be based on the clinical findings and on the familial history. For this purpose, a therapeutic test with acetazolamide can be useful, since in most cases a spectacular clinical improvement has been observed.

[Severe bone malformations in fetal valproic acid disease]. / Malformaciones esqueléticas severas en la fetopatía por ácido valproico.

The dysmorphogenic and teratogenic effects of valproic acid, when administered to pregnant women, have been noted in several reports. We report the case of a 3-month-old infant with multiple congenital anomalies, including severe skeletal malformations, congenital heart defect and facial dysmorphism, whose mother was treated with valproic acid (1000 mg/day) throughout the pregnancy. This is the second published case reporting major skeletal malformations and supports the possible teratogenic effects of valproic acid.