[Latest developments in ataxias]. / Novedades en ataxias.

This article reviews the advances made in the field of ataxias over the past four years. It concludes that there is no single spectacular finding like those that have taken place in the last 25 years and they can all be attributed to the remarkable evolution of genetics and neuroimaging. Nevertheless, algorithms have been perfected that allow a more rational use of the previous techniques to reach a correct diagnosis and possible treatment. With regard to the treatments proposed to alleviate the symptoms of ataxias, there is no unquestionable evidence leading us to think that the symptoms can be reverted with the means currently available, except for a few treatable ataxias, which were already known before that time.

TITLE: Novedades en ataxias.Se pasa revista a los avances acaecidos en el campo de las ataxias durante estos ultimos cuatro años, concluyendo que no hay un unico hallazgo espectacular como los acaecidos en los ultimos 25 años y se pueden atribuir todos ellos a la evolucion de la genetica y de la neuroimagen. Sin embargo, se han puesto a punto algoritmos que permiten usar de forma mas racional las tecnicas anteriores para alcanzar un correcto diagnostico y un eventual tratamiento. Respecto a los tratamientos propuestos para el alivio sintomatico de las ataxias, no hay evidencias incuestionables que hagan pensar que puedan revertirse los sintomas con los medios actuales a nuestra disposicion, a excepcion de algunas ataxias tratables, conocidas ya desde antes de esta fecha.

[In favour of early detection and moderate interventionism: to what extent is early stimulation effective?]. / A favor de la detección precoz e intervencionismo moderado: hasta qué punto es efectiva la estimulación temprana?

AIM: To review the bases and outcomes of early stimulation in the light of the results reported in the literature. DEVELOPMENT: We survey the papers that report results obtained from early stimulation in children at risk and in others with known dysfunctions, who were treated using diverse techniques with heterogeneous theoretical bases, programmes of intervention and application times and which range from the early stages of life (neonatal intensive care units) to the later stages of development. The main data taken into account were the meta-analyses. No data were found indicating permanent positive effects on the neurodevelopment of children to whom stimulation techniques were applied and, when short-term effects were reported, they were not detected in the medium or long term. CONCLUSIONS: Early stimulation techniques are politically correct, but are not effective enough to make their application recommendable as a valid preventive procedure. We suggest applying the treatments to children with known impairments in order to prevent the appearance of the self-fulfilling prophecy effect.

[Effectiveness and safety of levetiracetam in 133 children with medication resistant epileptic seizures]. / Eficacia y tolerabilidad del levetiracetam en 133 niños con crisis epilépticas farmacorresistentes.

INTRODUCTION: Levetiracetam (LEV) is the latest drug approved in the European Union for use in polytherapy in children over 4 years of age with partial epileptic seizures that are resistant to other antiepileptic drugs. AIM. To report our experience of associating LEV in children with medication resistant epileptic seizures. PATIENTS AND METHODS: We conducted an open, observational, respective study involving 133 children with refractory epilepsies: 106 with focal seizures and 27 with other types of seizures. LEV was associated over a period of more than 6 months and we evaluated its repercussion on the frequency of the seizures and the side effects related to the drug. RESULTS: With average doses of LEV of 1,192 +/- 749 mg/day the frequency of the seizures was reduced by over 50% in 58.6% of cases and seizures were quelled in 15.8% of patients. Side effects were produced in 27.8% of cases, and were usually transient or tolerable; these effects led to withdrawal of LEV in only eight cases (6.02%). In 37 children (27.8%), their relatives noted an improvement in their social behaviour and cognitive abilities. CONCLUSIONS: a) LEV is an effective drug that is well tolerated in children with refractory epilepsy; b) Its effectiveness in different types of seizures indicates a broad therapeutic spectrum; and c) LEV can even condition favourable secondary effects, a circumstance that has been reported only exceptionally in the case of other antiepileptic drugs.

[Acute onset ataxia in infancy: its aetiology, treatment and follow-up]. / Ataxia de aparición aguda en la infancia: etiología, tratamiento y seguimiento.

INTRODUCTION: Acute childhood ataxia is a cause of referency to the pediatric emergency room. AIM. To characterize the etiology, clinical picture, management, and outcome of acute ataxia in our hospital. PATIENTS AND METHODS: A prospective study was undertaken including 39 children with acute ataxia who were admitted between January 1, 2001 and December 31, 2003. RESULTS: During the study period 159,002 episodes were evaluated, 39 children (0.024%) with acute ataxia. The most common diagnoses were post-infectious ataxia (51.2%) and toxic exposure (25.6%). The mean age at presentation in post-infectious ataxia was 55 +/- 27.61 months, 60% females. A prodromal febrile illness was noted in 95%: varicella (10), nonspecific viral infection (6), mycoplasma, enterovirus, and Epstein-Barr virus. The latency from the prodromal illness to the onset of ataxia was 5.86 +/- 3.78 days. Lumbar punctures were altered in 11/17. All computed tomography scans performed were normal. At follow up, one boy presented asymmetric signs of cerebellar dysfunction secondary to hemicerebellitis. The media of the patient who showed full-gait recovery was 18 days, and was complete in all children, except one boy who presented hemophagocytic lymphohistiocytosis. Toxic ingestion was the second most common cause. Boys less than 6 years were more commonly affected. CONCLUSIONS: Acute childhood ataxia are an uncommon cause of presentation to our pediatric emergency room. Postinfectious ataxia and drug ingestion are the most common diagnosis, with a usually benign and self-limited process. A thorough history and neurology examination should be guided to etiology. Neuroimaging studies and hospitalization are needed only if atypical presentation, asymmetric neurologic examination and prolonged ataxia.

[Infantile spasms as the first manifestation of propionic acidemia]. / Espasmos infantiles como primera manifestación de la acidemia propiónica.

Propionic acidemia is a disorder of branch-chain amino acids, the side chain of cholesterol and odd-chain fatty acid metabolism that leads to the accumulation of toxic acid metabolites. The clinical features typically begin shortly after birth, although they can also appear in young adulthood. We report the case of a 3-year-old boy with atypical onset, who at 6 months presented bursts of infantile spasms and a hypsarrhythmic electroencephalogram. He was treated with vigabatrin. At 8 months magnetic resonance imaging showed a wider than normal subarachnoidal space, and hyperintense thalamus, globus pallidus and subthalamic nucleus. Biochemical and genetic analysis confirmed propionic acidemia. Specific therapy was started and the patient is not currently under anti-epileptic treatment and his electroencephalogram is normal. This onset of propionic acidemia is unusual, and we believe that treatment with vigabatrin protected the basal ganglia from irreversible excitotoxic damage.

[Tuberous sclerosis associated with rhabdomyoma in the left ventricular outlet tract]. / Esclerosis tuberosa con rabdomioma del tracto de salida del ventrículo izquierdo.

We report a 2-month old newborn with a family history of adenoma sebaceum, achromic spots and renal lithiasis. Echocardiography-magnetic resonance imaging showed a solitary pediculated rhabdomyoma in the left ventricular outlet tract causing a severe systolic aortic valve obstruction. Surgical excision was carried out through the aortic valve with no valvular lesions. The patient presented multiple seizures 24 hours after surgery with good response to medical therapy. Ten days later, computed tomography showed a spot lesion in the subependimary area in the posterior position of the parietal horn, compatible with a hamartoma associated with tuberous sclerosis.

[Apraxia of gait: an acquired sequela with a poor prognosis]. / Apraxia de la marcha: una secuela adquirida de evolución desfavorable.

INTRODUCTION: Gait apraxia is not used to be considered as a diagnostic entity in Pediatric Neurology. CASE REPORTS: We present two pediatric patients that, after to have acquired normal gait and in consequence of a acute process, they lost the capacity to walk. In spite of intensive rehabilitation treatment hold along various years, they had not been able to help them. Both injury were very dissimilar; in one of them was affected the precentral and paracentral cortex in consequence of an encephalitic process. In the other, the basal ganglia and the hippocampus after a situation of near-drowning at the age of 15 months. CONCLUSION: The mechanism of this disorder is discussed and emphasis is done in its badly long-term prognosis.

[Idiopathic catastrophic epileptic encephalopathy: an untreatable convulsive malady in infancy]. / Encefalopatía epiléptica catastrófica idiopática: una forma intratable de estado de mal convulsivo en la infancia.

AIM: To present a case of catastrophic childhood epileptic syndrome with multifocal status epilepticus. CASE REPORT: A 4 years old boy with a multifocal status epilepticus of unknown origin which could only be controlled along some days with thiopentone enough to cause electrical suppression, and relapsed again after having stopped it. CONCLUSION: But for very high doses of barbiturates, any antiepileptic drug could control or improve the convulsions. MRI, initially normal, was followed by a progressive cerebral and cerebellar atrophy and the boy survived with heavy neurological secuelae.

[Idiopathic epilepsies: some therapeutic aspects]. / Epilepsias idiopáticas: aspectos terapéuticos.

AIMS: The purpose of this study was to determine the therapeutic approach to be used in localisation-related and generalised epilepsies and idiopathic epileptic syndromes. DEVELOPMENT: Recent literature on the subject was reviewed, as were the records on a total of 118 patients from two paediatric neurology units between the years 2000 and 2003. With regard to the localisation-related cases, the following recommendations are made: 1. Treatment with monotherapy; 2. Low doses, since any antiepileptic drug can make epilepsy worse, and more so in the case of RBEI; 3. If the seizures get worse with treatment, the doses must be reduced instead of increased; 4) Carbamazepine (CBZ) and oxcarbazepine (OXC) are first choice drugs; clobazam (CLB) is indicated in OBEI and in some atypical BPEI, in which steroids in monotherapy can occasionally prove useful; valproate (VPA) is an alternative for cases of intolerance and exacerbation, and 5. Two-year treatment and electroencephalogram (EEG) monitoring for exacerbation. As regards idiopathic generalised epilepsies: 1. VPA in monotherapy is recommended in all the forms, 48% were controlled; 18% were controlled with VPA + lamotrigine (LTG); 2. Childhood absence epilepsy is controlled up to 50% with VPA and 85% with VPA + ethosuximide (ESM); 3. LTG, CLB, topiramate (TPM) and Rivotril (CLN) are alternatives to be considered in all types of epilepsies and syndromes that are resistant to medication, and 4. In GCTS, VPA should be chosen in low doses in juvenile myoclonic epilepsy of Janz.

[Factors related to the short term remission of tics in children with Tourette syndrome]. / Factores que influyen en la remisión a corto plazo de los tics en niños con síndrome de Gilles de la Tourette.

INTRODUCTION: Tourette syndrome shows a fluctuating evolution, often masked by its comorbidity. OBJECTIVE: To study the clinical factors predicting the initial remission of tics in children with Tourette syndrome. Patients and methods. All patients attended during the last 5 years at a Child Neurology hospital based out patient clinic, with the diagnosis of Tourette syndrome according to DSM IV criteria, were selected. OUTCOME MEASURE: total remission of tics during at least 3 months, evaluated during the patient s second visit to our clinic. Demographic, clinic and therapeutic variables were studied. Statistical analysis was based on the Student t test or non parametric tests, as necessary. RESULTS: 53 patients, 44 males and 9 females. Age at starting tics: 6.9 2.2 years, time of evolution: 2 years (range: 1 9.4). Comorbidity in 51%: 34% with attention deficit hyperactivity disorder (ADHD), 17% with obsessive compulsive disorder (OCD) and school underachievement: 26%. Familial antecedents of tics, OCD, or ADHD: 49%. Tics remission at second visit to our clinic: 41.5%. Patients without remission were those with an earlier onset of tics (p=0.085), longer time of evolution (p< 0.05), or school underachievement (p= 0.024). Remission was not statistically associated with treatment. OCD and ADHD were associated with school failure but were not related to the tics evolution. CONCLUSION: The short term (at second visit), temporal (minimum 3 months) total remission of Tourette syndrome was not related to treatment but to previous duration of the syndrome and to factors (other than OCD and ADHD) that lead to school failure.

[Mitochondrial leukoencephalopathy of infancy: is it an early expression of Leigh syndrome?]. / Leucoencefalopatía mitocondrial del lactante. ¿Forma precoz de un síndrome de Leigh?

INTRODUCTION: Leigh syndrome is probably the most frequent metabolic disorder in infancy and childhood. The classic form of the disease is characterized by bilateral lesions of basal ganglia and brainstem. The extensive involvement of white matter, without radiological basal ganglia abnormalities, is an unusual manifestation of the disease. OBJECTIVE: Four patients who presented the disease during the first year of life are described. PATIENTS AND METHODS: The four patients presented a stereotyped clinical picture, consisting of regression of already acquired psychomotor abilities and very prominent pyramidal signs. These clinical manifestations and results of neuroimaging studies suggested a primary leukodystrophy. Increased values of lactic and piruvic acids suggested a mitochondrial disorder. Enzymatic studies confirmed a mitochondrial respiratory chain deficiency in two patients, and a pyruvate dehydrogenase complex defect in the remaining two patients. The pathological findings in the latter two sisters were consistent with the characteristic microscopic lesions of Leigh syndrome, but with atypical distribution. CONCLUSION: Diagnosis of Leigh syndrome must be taken into consideration in infants presenting with a leukodystrophic clinical and radiological pattern, despite the lack of basal ganglia involvement.

[Disturbances of neuroblast migration and amniocentesis. An under diagnosed problem?]. / Trastornos de la migración neuroblástica y amniocentesis. Un problema infradiagnosticado?

INTRODUCTION: Performing amniocentesis between the fourth and sixth months of gestation is a widespread practice. However, it can entail serious consequences, apart from the loss of the foetus, such as injuries to the developing central nervous system. CASE REPORTS: Over the past few years we have dealt with four patients who were carriers of a focal disturbance of neuroblast migration, which could have its origins in amniocentesis. Two patients displayed mental retardation and difficult to treat epilepsy, while the other two only presented hemiparesis. In two cases the right hemisphere of the brain was affected. One of them also presented extracranial brain tissue, which was possibly extruded during the accidental puncture of the skull. CONCLUSIONS: Despite its being rarely mentioned in the literature, a direct or indirect attack on the brain during diagnostic amniocentesis is a possibility that must be borne in mind when considering the use of this technique

[Non-paraneoplastic limbic encephalitis]. / Encefalitis límbica no paraneoplásica.

CASE REPORT: A young patient with epilepsy and limbic encephalitis unrelated to neoplasm. RESULTS: The patient in a subacute fashion showed frequent partial seizures with neuropsychological deficits mainly in recent memory capability, with an no simultaneous affectation of both temporal lobe and adjacent structures. After 6 years there was no evidence of underlying malignancy.

[Complicated benign partial epilepsy]. / Epilepsia parcial benigna complicada.

OBJECTIVE: We review the complicated forms of different types of idiopathic benign partial epilepsy pointing out their relation to continuous point and wave tracings in slow sleep (POCS), the epileptic opercular syndrome and the Landau Kleffner syndrome. We insist on the role of some anti epileptic drugs in triggering the problem and withdrawal of these drugs as the most important aspect of the treatment of these complications replacing them by CLB in all cases. DEVELOPMENT: We describe various clinical cases which illustrate the problem