[Temporal lobe epilepsy. Aetiological classification in 61 paediatric patients]. / Epilepsia del lóbulo temporal. Clasificación etiológica en 61 pacientes en edad pediátrica.

INTRODUCTION: There are very few studies on the aetiology of temporal lobe epilepsy (TLE) in childhood. The purpose of the present study is to analyse the data of 61 children diagnosed with TLE, in order to describe the aetiology of TLE in children seen in a neuropaedriatic clinic. We also discuss the currently proposed classification. PATIENTS AND METHODS: A retrospective analysis was carried out on patients diagnosed with TLE. Patients consisted of 61 children less than 15 years old. RESULTS: Patients were classified into three groups: Group 1 (symptomatic temporal lobe epilepsy) consisted of 25 patients (40.98 %) with any temporal lesion on neuroimaging (tumours, malformations or infections) or significant history; Group 2 (Mesial temporal sclerosis) consisted of 17 patients (27.86 %), a history of simple and complex febrile seizure were common in this group; and Group 3 (Cryptogenic epilepsy) consisted of 19 patients (31.15 %) with no abnormalities on neuroimaging or significant history. CONCLUSION: To our knowledge, this is the largest paediatric series of childhood new-onset TLE assessed only by MRI in the literature. We have modified the previous aetiological classification in order to make the groups more realistic.

[Cerebral palsy: the concept and population-based registers]. / Parálisis cerebral: concepto y registros de base poblacional.

INTRODUCTION: Cerebral palsy (CP) is the most common cause of motor disability in the paediatric age. For several decades, a number of developed countries have kept registers that have been used to conduct population-based studies of CP. In Spain, however, little attention has been paid to the epidemiology of CP. AIM: To review the concept of CP today and to stimulate greater interest in researching into CP based on the experience of other countries. DEVELOPMENT: The different definitions of CP cover motor sequelae secondary to an isolated brain injury that occurs in a developing brain. CP registers were started as a means of monitoring the prevalence of CP and planning suitable care for patients. Over the last decade projects have been carried out that involve the coordinated efforts of several centres; this provides a larger population for study and reduces the chances of confusion with respect to the terminology employed. In this regard, one notable line of work is that of the European CP group (SCPE), which gathers information about children with CP in 15 countries. Spain has been taking part in this project since 2003 through a group of researchers from the Hospital 12 de Octubre in Madrid. CONCLUSIONS: From the very definition of the disorder, CP is a complex condition. A population-based study of CP in Spain should help to arouse a renewed interest in this condition in our country.

[Acute disseminated encephalomyelitis. Experience of a tertiary hospital in Spain]. / Encefalomielitis aguda. Experiencia de un hospital terciario español.

INTRODUCTION: To describe the epidemiological, clinical, microbiological, neuroimaging and laboratory features, treatment, and outcome in a cohort of children with acute disseminated encephalomyelitis (ADEM). PATIENTS AND METHODS: Retrospective chart review was performed of children with a diagnosis of ADEM over a 23-year period in a tertiary hospital in Spain. RESULTS: Twelve cases were identified. Ten cases (83%) occurred after 1992. Nine patients (75%) presented between April and September. The mean age was 6 years. Nine patients (75%) were male. Fifty percent of the patients had a history of infectious disease or vaccination. The most frequent nonspecific symptom was fever in 75%. The most frequent neurological manifestations were motor deficits and altered consciousness in 75%. Cerebrospinal fluid abnormalities were found in 83%. All patients had at least one brain scan and one brain magnetic resonance imaging (MRI) scan. Three patients underwent spinal MRI. The sensitivity of MRI was greater than that of the scanner in the diagnosis of ADEM. An etiologic diagnosis was made in four patients: Mycoplasma pneumoniae, beta hemolytic streptococcus group A, Epstein-Barr virus and measles-mumps-rubella vaccination. Eleven patients were treated with corticosteroids and one was treated with intravenous immunoglobulin therapy. One patient died while 75 % of the patients had a good outcome. CONCLUSIONS: ADEM is in an infrequent disease in children. The clinical features are similar to those of infectious encephalitis. Etiologic diagnosis is difficult to establish but this entity is usually preceded by an infection. The neuroimaging test of choice to establish the diagnosis is MRI. In most patients, the prognosis is good.

Generalized spike-and-wave patterns in children: clinical correlates.

All electroencephalograms performed in our institution between 1980 and 1990 were reviewed. The clinical characteristics of children with epilepsy and generalized spike-and-wave (SW) patterns were analyzed. The SW patterns were classified according to their frequency. Electroencephalograms of 154 children with epilepsy revealed SW patterns. Absence seizures were the most common first seizure, but partial seizures were frequent. More than 40% had several types of seizures. Sixty percent of the epileptic syndromes were generalized, but almost 25% were partial. The typical SW pattern was associated with absence seizures, a normal examination and computed tomographic scan, idiopathic generalized epilepsies, monotherapy, freedom from seizures, and lack of recurrence. The slow SW pattern was associated with West syndrome; a younger age at seizure onset; atonic, myoclonic, tonic, and partial simple seizures; an abnormal examination and computed tomographic scan; cryptogenic or symptomatic generalized epilepsy or symptomatic partial epilepsy; polytherapy; and poor seizure control. The fast SW pattern was associated with secondary generalized, partial, tonic-clonic, and complex partial seizures; a normal computed tomographic scan; cryptogenic partial epilepsy; isolated seizures; and seizure recurrence. Epilepsy with a typical SW pattern should be considered benign, epilepsy with a slow SW pattern malignant, and epilepsy with a fast SW pattern treacherous.

[Epilepsy and CNS malformations]. / Epilepsia y malformaciones del SNC.

INTRODUCTION: Malformations of cortical development are currently considered to be one of the commonest causes of mental retardation and epilepsy. DEVELOPMENT: New neuroimaging techniques have helped diagnosis of these conditions during life and the recognition of new anatomo-clinical syndromes. Although the true incidence of these lesions as a cause of epilepsy is unknown, data from surgical patients indicate that this is the commonest pathology found in children operated on for intractable crises. Most of these patients have focal or generalized crises associated with mental retardation, with a wide range or severity. CONCLUSION: In this review we analyze the clinical features, electroencephalographic findings and the prognosis of epilepsy secondary to these malformations [REV NEUROL 1999; 28: 136-40].

[The return to the ketogenic diet. What role does it play in the treatment of refractory seizures of infancy?]. / La vuelta a la dieta cetogénica. ¿Qué papel desempeña en el tratamiento de las convulsiones infantiles refractarias?

UNLABELLED: About one third of the patients with epilepsy are not satisfactorily controlled in spite of correct anticonvulsive treatment. Although the ketogenic diet has been used for refractory epilepsy since the 1920s, over the past ten years it has been used much more. OBJECTIVE: To review the effectiveness, tolerance and adverse effects in 12 paediatric patients who have been on this diet for over three months. PATIENTS AND METHODS: We assessed 15 children, of whom only 12 are included in this review ( 5 boys and 7 girls). After initial joint evaluation by the neuropaediatrician and the Clinical Nutrition Unit the diet was started in hospital with a period of fasting (24 48 hours) until ketosis occurred. The diet was continued over three days before the child was sent home. In our centre we used a diet with modified MCT, in which 30% of the energy was given in the form of MCT and 40% as natural fats. The effectiveness of the diet was found by comparing the number of seizures suffered by the patient before starting the diet with the number at different times later (1, 3, 6, 12, 18 months). RESULTS: The median age when starting on the diet was 3 years and 5 months (range 18 months to 9 years). All had been diagnosed as having the Lennox Gastaut syndrome, six having cryptogenic disease. Six children had severe mental retardation. Six months after starting the diet, half the children had over 50% reduction in seizures whilst a third had no seizures at all or had their frequency of occurrence reduced by over 90%. After one year three families had given up the diet, two because of its inefficacy in controlling the seizures. The diet was well tolerated in all cases, with levels of ketonuria maintained at 2+. Mild adverse effects were seen in only three patients and transient rise in the plasma cholesterol level in four children. CONCLUSIONS: The ketogenic diet is still an effective treatment for epilepsy, especially in patients in whom the drugs available have not led to improvement. Its excellent tolerance and few short term side effects encourages its use in most cases of refractory epilepsy.

[Neurological complications of systemic cancer and its treatment]. / Complicaciones neurológicas del cáncer sistémico y de su tratamiento.

INTRODUCTION: Therapeutic advances have attained excellent results in the battle against systemic cancer. This has meant cure for many and greater survival. However, these achievements have led to a dramatic increase in neurological complications due to the cancer itself and the surgical treatment on its own or combined with chemotherapy and radiotherapy. These complications, which are very common in childhood neoplasias, have had much less attention than those of adults, although recently excellent reviews have begun to be published. OBJECTIVE: In this paper we review the various complications of systemic cancer and its treatment in childhood, emphasizing the differences from that of adults.

[Arteriovenous malformation in neurofibromatosis type 1. A case report and review of the literature]. / Malformación arteriovenosa en la neurofibromatosis tipo I. Caso clínico y revisión de la literatura.

INTRODUCTION: Neurofibromatosis type I may be accompanied by cerebrovascular complications, mainly stenosis or aneurysms and more rarely vertebral arteriovenous fistulas and malformations. We report the first case of a child, as far as we know, with neurofibromatosis type I and subarachnoid hemorrhage caused by rupture of an arteriovenous malformation. CLINICAL CASE: A 9 year old girl presented with the acute onset of a condition preceded by vomiting, deterioration in her level of consciousness and neck rigidity caused by subarachnoid and intraventricular hemorrhage. On angiography a right interpeduncular arteriovenous malformation was seen which arose from the right anterior choroid artery. The patient was admitted to the intensive care unit for stabilization of her condition, followed by surgical operation and good subsequent progress. CONCLUSIONS: We review the cerebrovascular complications associated with neurofibromatosis type I that have been described in the literature. Neurofibromatosis type I may be associated with cerebrovascular complications. The most frequent of these are occlusive or stenotic, isolated or with a vascular pattern of progressive cerebral artery occlusive disease of moyamoya type and aneurysms. Other rarer cerebrovascular complications include fistulas and arteriovenous malformations. The patient we report is the first case of vascular malformation in children associated with neurofibromatosis type I as far as we are aware.

[Cerebral cavernomas in childhood. clinical presentation and diagnosis]. / Cavernomas cerebrales en la infancia. Presentación clínica y diagnóstico.

INTRODUCTION: Intracranial vascular malformations are congenital lesions due to alterations in the development of the arteriolocapillary network. Traditionally they are divided into four types according to their histological characteristics: arteriovenous malformations, cavernous angiomas or cavernomas, venous angiomas and telangectasias. The cavernomas are multilobulated lesions which are clearly delimited and contain blood at different stages of evolution. Histologically they are composed of sinusoidal spaces lined by endothelium and closely interlinked, without intervening nervous tissue. They are usually found at a supratentorial level, and less frequently in the posterior fossa. PATIENTS AND METHODS: We made a retrospective review of the histories of 11 patients aged between 2 and 10 years, diagnosed as having intracranial cavernomas in which imaging techniques lead to the diagnosis of intracranial cavernoma. In two patients there were multiple cavernomas. We analysed the method of diagnosis and clinical features on presentation. RESULTS: The clinical features were varied. In six patients the onset of the disorder was with epileptic seizures, three had progressive neurological deficits, one patient had headache and vomiting which progressed to coma and another had a history of non specific fainting and deficit. All but one of the cavernomas were supratentorial. CONCLUSIONS: Cavernomas are a type of vascular malformation with specific histological features. The usual clinical features are convulsions and parenchymatous bleeding. They are generally supratentorial. The appearance of MR has permitted diagnosis of asymptomatic cavernomas and is currently considered to be the technique of choice for diagnosis.

[Unilateral isolated paralysis of the soft palate: a case report and a review of the literature]. / Parálisis aislada unilateral del velo del paladar: presentación de un caso y revisión de la literatura.

INTRODUCTION: Unilateral isolated paralysis of the soft palate is a rare clinical entity. CASE REPORT: We describe the case of a 12 year old girl who presented acute dysphagia, a nasal voice and regurgitation of liquids into the nose. Exploration revealed right velopalatine insufficiency with normal gag reflex and pharyngeal sensitivity. All the complementary studies, including magnetic resonance, lumbar puncture and viral serology tests, were normal. There are 28 similar cases in the literature, with the following characteristics: acute onset, appearing in infancy (96%), predominance in males (79%), recent respiratory infection (35%) and an excellent prognosis for recovery (85%). CONCLUSION: This is probably a case of acute cranial mononeuropathy with a viral aetiology

[Intracranial arachnoid cysts. A study of a series of 35 cases]. / Quistes aracnoideos intracraneales. Estudio de una serie de 35 casos.

INTRODUCTION: Arachnoid cysts are cavities with a content similar to cerebrospinal fluid, frequently communicating with the subarachnoid space. They make up 1% of the intracranial space occupying lesions, and although typically seen in children (13%), they may be undiagnosed until the patient has become adult. PATIENTS AND METHODS: We review a series of 35 cases of congenital intracranial arachnoid cysts in children, which had been investigated in the Neuropaediatric Department during 1987 1999. The patients had had cranial CAT and MR, and transcranial echography studies. RESULTS: In 85.7% there was a single cyst. The Sylvan fissure and posterior fossa were the commonest sites. The age of diagnosis was under 1 year in 54.3% and at birth in 25.7%. There were other associated malformations of the central nervous system in 31.4%, with agenesis of the corpus callosum in 45.5%. The most frequent clinical features on presentation of the condition were macrocephaly (31.4%) and epileptic crises (25.7%). The surgical treatment most often used was cystoperitoneal shunt. CONCLUSIONS: Congenital arachnoid cysts are caused by alteration in the embryogenesis of the central nervous system, and hence their association with other malformations and prevalence in children. The most frequent clinical findings were macrocephaly, due to the size of the cyst or the associated hydrocephaly, and epileptic seizures secondary to cortical irritation caused by pressure. Management of symptomatic lesions is surgical. The cystoperitoneal shunt was generally used in our series, since this was followed by clinical improvement in most cases.

[Intradural spinal arachnoid cyst associated with Noonan's syndrome]. / Quiste aracnoideo espinal intradural relacionado con síndrome de Noonan.

INTRODUCTION: Intradural spinal arachnoid cysts are collections of liquid similar to CSF, caused by a disorder of the arachnoid trabeculae. Noonan s syndrome is a condition involving multiple malformations, with autosomal dominant inheritance, variable penetration and expression and a phenotype similar to that of Turner s syndrome. We describe the case of a girl with Noonan s syndrome who presented with progressive scoliosis and signs and symptoms of a disorder of the spine related to an intradural spinal arachnoid cyst. CLINICAL CASE: A four year old girl with no significant previous clinical history was seen for slow growth (in size and weight), progressive scoliosis and urinary sphincter dysfunction. On physical examination there were features of polymalformation compatible with Noonan s syndrome and thoracic scoliosis. In view of this a spinal MR study was done. This showed an intradural arachnoid cyst from segment T4 to T11, with displacement and spinal narrowing which required a cyst-peritoneal shunt. CONCLUSIONS: Intradural spinal arachnoid cysts are collections of liquid produced due to arachnoid trabeculae. Noonan s syndrome is a condition involving multiple malformations with a phenotype which is very similar to that of Turner s syndrome. It is linked to alterations of tissue elastin which favor the appearance of arachnoid cysts. Arachnoid cysts are an uncommon cause of spinal compression and/or progressive scoliosis. Although this association has not been described previously, in the case of a patient with Noonan s syndrome, with clinical features of a spinal disorder and/or progressive scoliosis, the presence of a spinal arachnoid cyst should be considered.

[The prognosis of epilepsy in children with generalized spikes and wave disc charges in electroencephalographic recording]. / Pronóstico de la epilepsia en niños con trazado electroencefalográfico de descargas de punta-onda generalizadas.

INTRODUCTION: Epilepsy is a chronic disorder. The prognosis of one particular subtype, that of children with generalized spike and wave discharges (P-O) on the electroencephalogram (EEG), is unknown. OBJECTIVE: To determine the prognosis of children with epilepsy with P-O on EEG and the factors which affect this. PATIENTS AND METHODS: All EEGs done over ten years (39,322) were reviewed, and the epileptic patients under 14 years old identified. Absence and recurrence of crises were evaluated and the factors influencing them analyzed. Minimum significance was p < 0.05. The chi square test, Student's t test and Kaplan-Meier method were used. Logistic regression models were devised. RESULTS: Of the children studied, 78% became crisis-free. After monovariant and multivariant analysis the only conditions which fitted the regression models were: abnormal pregnancy; West syndrome or learning difficulties; having certain types of crises, myoclonic, clonic-tonic, partial simple or complex crises; a normal EEG with hypsarrhythmia, slow or fast P-O and requiring multiple medication. When medication ceased, 31.4% had recurrence of the episodes. On monovariant and multivariant analysis, protective factors were absence of attacks and risk factors were a family history of epilepsy or an EEG with rapid P-O. CONCLUSIONS: The overall prognosis for epileptic children with P-O is good. There are factors which improve or worsen the pronosis, but these cannot be modified.

[Intracranial venous thrombosis: reports on 11 paediatric cases]. / Trombosis venosa intracraneal:a propósito de 11 casos pediátricos.

INTRODUCTION: Intracranial venous thrombosis (IVT) is a rare condition at the paediatric age, with a wide variety of clinical features and causations. AIM: To describe the etiopathogenic factors, the presenting symptoms, diagnosis, treatment and progress of the cases of IVT diagnosed at the Hospital 12 de Octubre. PATIENTS AND METHODS: The descriptive retrospective study involved reviewing the records of patients who were admitted to hospital between 1989 and 2005, with ages ranging between 1 month and 16 years. Those who had been diagnosed as having IVT, confirmed by neuroimaging, were selected for the study. A review of their patient records was then carried out and associated etiopathogenic factors, clinical features and neuroimaging findings, treatment and progress were analysed. RESULTS: Eleven patients fulfilled clinical and radiological eligibility criteria. Most of them presented precipitating factors of an infectious origin (45%). The most frequent presenting symptoms were headache and diminished level of consciousness (45% for each case). The superior longitudinal was the most commonly affected venous sinus (72% of cases). Thrombophilic alterations were found in 27% of the patients. Magnetic resonance imaging of the brain was the most cost-effective diagnostic test. No haemorrhagic complications were recorded in patients receiving anti-clotting therapy. In most cases progress was favourable. CONCLUSIONS: Improved diagnostic methods allow IVT to be detected increasingly more often at the paediatric age. Anti-clotting therapy in the acute phase proved to be safe and effective in this series, although further studies are needed with patients at this age to confirm this finding.

[Neonatal hypotonia of muscular origin: analysis of 50 cases]. / Hipotonía neonatal de causa muscular: análisis de 50 casos.

BACKGROUND: Neonatal hypotonia is a common request for neurological consultation. The aim of this study is to describe the main clinical features of muscular hypotonia in newborns at the light of the histopathological findings. METHODS: We reviewed 50 medical records of hypotonic neonates with abnormal muscular biopsy. In all of the cases, the serum concentration of creatine kinase was determined and biopsies were examined by a qualified neuropathologist. RESULTS: The most frequent muscular cause of neonatal hypotonia was specific congenital myopathies (23 cases), followed by congenital muscular dystrophy (15 cases), congenital myotonic dystrophy (eight cases) and metabolic myopathies (four cases). The most common specific congenital myopathy was fiber type disproportion (10 cases). The association with joint contractures and the involvement of respiratory muscles were frequent; respiratory complications were the first cause of death. CONCLUSIONS: Muscular biopsy is required for the definitive diagnosis of specific congenital myopathies, congenital muscular dystrophy and metabolic myopathies. In congenital myotonic dystrophy, the mother is almost always affected; neonates with specific congenital myopathies and congenital muscular dystrophy can be very similar to those with congenital myotonic dystrophy; the examination of the mother, specially a careful search for myotonia, is the best diagnostic clue; if there are signs of myotonia, the diagnosis can be made by molecular genetic study.

[West syndrome. A series of 31 cases]. / Síndrome de West. Serie de 31 casos.

In this publish we analyze etiologic, clinic, electroencephalografic, radiologic, therapeutic and evolutionary facts of a serie of 31 children with diagnostic of West's syndrome. Advances in diagnostic methodes, overall of neuroimagen have allowed us to identify the etiology of 87% of cases, with a great variability of causes. The treatment with ACTH and/or anticonvulsive drugs was effective; although for children's prognostic, etiology and previous neurologic situation before initial symptomatology was more important. So, the clinical evolution was favorable for all criptogenetic cases and those secondary one with previous normal neurologic state. The rest, 70%, remained with mental delay, associated or no with crisis. Likewise the EEG persisted to be pathologic in 67.7% of cases. Five cases progressed towards Lennox-Gastaut's syndrome, that is to say, 16% of whole.

[Guillain-Barré syndrome. 15 pediatric cases]. / Síndrome de Guillain-Barré. Quince casos pediátricos.

Clinical features and outcome of 15 children with Guillain-Barré syndrome were retrospectively analyzed. In 53% of the patients there was an infectious illness previous to the neurologic symptoms and in five children the etiologic agent was demonstrated. Motor deficit affecting limbs was the most common clinical presentation and facilal paralysis was the most frequent accompanying sign. One of these children developed the Fisher syndrome variant. The outcome was excellent except in one case. We want to remark from this serie high percentage of agents identified in the infectious process previous to Guillain-Barré syndrome and the good outcome of these patients, due to the supportive treatment in the pediatric intensive care unit where they were admitted.

[Dermatomyositis in childhood]. / Dermatomiositis en la infancia.

AIM: The aim of this study is to review the presenting signs and symptoms, laboratory findings and therapeutic regimens of juvenile dermatomyositis in a tertiary hospital. METHODS: We reviewed retrospectively the available medical records of patients who met the clinicopathologic criteria of Bohan and Peter for definite juvenile dermatomyositis. They were followed between 1986 and july 1999 at the pediatric rheumatology section at our institution. RESULTS: The patient population included 3 male and 6 female patients. The mean age at diagnosis was 7 years. Clinical features demanding medical attention at the hospital were: muscle weakness and pain, with associated general symptoms in 4 cases; isolated muscle weakness in 2 cases; muscle weakness associated to general symptoms in 1 case; and monoarthritis in another case. One patient presented initially only with cutaneous rash. Three patients developed calcinosis. Serum CPK and LDH levels were elevated in 8 patients, aldolase in 7 and aminotransferases in 6. Autoantibodies were undetectable in all the patients. Electomyography demonstrated myopatic or mixed pattern in the 5 patients it was practiced. Muscle biopsy showed features of inflammatory myopathy in all the cases. Seven patients were treated exclusively with steroids and 2 patients with steroids, methotrexate and intravenous gammaglobuline. Actually, 6 patients are asymptomatic, 2 have mild muscle weakness, and 1 has died. CONCLUSIONS: The results of our review agree with other series reported. Juvenile dermatomyositis suspicious should be made upon muscle weakness and general symptoms. Treatment with steroids should be started promptly.