[Early onset Neurobehçet's disease].

Introduction: Behçet's disease is difficult to diagnose in infancy due to the absence of early clinicopathological pathognomonic symptoms. There have been reports of patients in whom the onset of the disease occurred during the first months of their lives.

Case Report: We describe here the case of a 12-year-old female from Pakistan whose first symptoms appeared at the age of 6 months in the form of fever and skin lesions.

[Nephrolithiasis and topiramate].

Introduction: Topiramate (TPM) is a new antiepileptic drug whose multiple mechanisms of action justify both its broad therapeutic spectrum and its increasingly widespread use in childhood epilepsy. TPM acts as a carbonic anhydrase inhibitor and, although this does not affect its effectiveness as an antiepileptic, it does account for certain side effects such as nephrolithiasis. The frequency of nephrolithiasis secondary to TPM in childhood is unknown and we have only found reports of five cases in children.

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion.

Objective: Our aim was to describe a child with an incomplete form of Kearns-Sayre syndrome who presented profound cerebrospinal fluid (CSF) folate deficiency and his response to folinic acid supplementation

Methods: CSF 5-methyltetrahydrofolate was analyzed by HPLC with fluorescence detection and mitochondrial DNA deletions by southern blot hybridization.

Results: Cranial magnetic resonance imaging showed a leukoencephalopathy. Profound CSF 5-methyltetrahydrofolate deficiency was observed with normal blood folate values and decreased CSF/serum folate ratio, suggesting a transport defect across the blood-brain barrier.

[Benign seizures associated with mild gastroenteritis: apropos of two cases].

Introduction: The occurrence of benign seizures in association with viral gastroenteritis without dehydration or fever is well recognized in Asia, but it is virtually unknown in other parts of the world. This is a benign process that does not lead to a greater risk of epilepsy or developmental deterioration.

Case Reports: We describe two infants who were admitted to our department over a 1-year period with acute convulsions and mild gastroenteritis.

[Variability in the treatment of headaches in visits to the Neuropaediatrics service at six Spanish hospitals].

Introduction: Headache is one of the chief reasons for visiting Neuropaediatric units. Variability in clinical practice has been defined as variations in the rates a clinical procedure is employed. The aim of this work is to study the variability in the treatment of children's headaches in six Spanish hospitals.

Neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence associated with chromosome 22q11.2 deletion.

We report a case of neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence in association with a chromosome 22q11.2 deletion in a 5-month-old boy, the only child of a non-consanguineous couple without relevant antecedents. Specifically, polymerase chain reaction amplification of microsatellite markers revealed a noninherited microdeletion in position D22S306.

[Aicardi-Goutières syndrome: report of two new cases].

Introduction: Aicardi-Goutières syndrome is an early onset autosomal recessive progressive encephalopathy, clinically characterized by acquired microcephaly, severe psychomotor delay and involvement of pyramidal and extrapyramidal tracts. Intracranial calcifications, especially at the level of the basal ganglia, white matter abnormalities, lymphocytosis and raised interferon (IFN)-alpha in blood and cerebrospinal fluid (CSF) form part of this syndrome.

Cases Reports: We describe two unrelated infants (a 3-month-old boy and an 11-month-old girl) who both presented with hypotonia, microcephaly, and psychomotor delay.

[Absence epilepsy. A review of our 14 years' experience].

Introduction: Absence epilepsy (AE), typically occurring at the paediatric age, is characterised by episodes of diminished consciousness accompanied by a generalised rapid spike-wave in electroencephalogram recordings.

Patients And Methods: Our study involved children with AE from the Neuropaediatrics database between May 1990 and May 2004. Patient records were reviewed and cases no longer controlled were contacted by telephone.

[Updates in muscular dystrophies].

Introduction: Advances in molecular genetics on lasts 15 years had modified profoundly our knowledge about muscular dystrophies. The pathogenia, caused by defectives proteins which disrupt dystrophin-associated-protein complex in most of the dystrophies, has generate a new classification based in protein and genomic defects.

Development: In this review, clinical, genetic, diagnostic and therapeutic aspects of the main muscular dystrophies are described.

[Clinical progress of neonatal non-ketotic hyperglycinemia under treatment].

Introduction: Non-ketotic hyperglycinemia is a congenital error in the breakdown of glycine. The most common type is the classical neonatal form, which begins at the age of a few days with symptoms of lethargy, hypotonia, myoclonia, convulsions, apneas and, frequently, ends in death. Survivors usually develop intractable epilepsy and mental retardation.

[Mitochondrial encephalomyopathies and West's syndrome: a frequently underdiagnosed association].

Introduction: West's syndrome is known to have symptomatic, cryptogenetic and idiopathic forms. Greater knowledge of the different pathologies and the development of new diagnostic techniques have allowed the list of symptomatic forms to be extended and congenital disorders of the metabolism account for a significant percentage as an aetiopathogenic factor. Yet, although it is known that mitochondrial cytopathies can trigger the development of West's syndrome, few reports exist concerning their association.

[Oxcarbazepine in monotherapy in 324 patients with partial seizures (TRINOVA study)].

Aims: The purpose of this study was to evaluate the effectiveness and tolerability of oxcarbazepine (OXC) administered as monotherapy in patients with partial seizures as a first therapeutic alternative or after the failure of other monotherapies.

Patients And Methods: A prospective, open, multicentre trial based on observation involving 324 patients between 6 and 87 years of age with partial seizures who had not received prior treatment with antiepileptic drugs (AED) (n = 114) or in whom other monotherapies had failed (n = 210). These patients were administered OXC in the conditions usually found in clinical practice over a period of 52 weeks; effectiveness was evaluated by the reduction in the frequency of the seizures, tolerability was measured through the side effects related to the drug and quality of life was assessed by means of the changes reflected in the CAVE questionnaires, in the case of children, and the QOLIE-31 for adults.

[Analysis of the aetiologies of headaches in a paediatric emergency service].

Introduction: Headaches are a frequent cause of children's visits to different health care services but the epidemiological profile varies widely according to whether the sample is taken from among visits to hospital clinics, neuropaediatric units or emergency services.

Aims: The aim of this study was to analyse the aetiologies of the cases of headache attended in a paediatric emergency service.

Patients And Methods: We conducted a retrospective analysis of patient records with headache as the main reason for visiting over a six month period at the Paediatric Emergency Department at the Centro Hospitalario Pereira Rossell.

[Neuropsychology and epilepsy].

Aims: The epileptic child has three times more risk of presenting cognitive disorders than other children with no neurological pathology, in accordance with three essential facts: 1. The effect exerted by the actual epilepsy. 2.

[Smith-Magenis syndrome: a report of two new cases and an approximation to their characteristic behavioural phenotype].

Introduction: Smith-Magenis syndrome (SMS) is a well defined contiguous gene syndrome that is caused by an interstitial deletion in the 17p11.2 region. It is characterised by the presentation of characteristic facial features, brachydactylia, short stature, varying degrees of mental retardation, occasional neuropathy and a specific behavioural phenotype that points to this entity.

[Familiar chronic progressive external ophthalmoplegia of mitochondrial origin].

Introduction: The syndrome of chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by ptosis and ophthalmoplegia has that has been associated to the presence of large deletion, single or multiple, in the mitochondrial DNA of skeletal muscle.

Case Report: We report a familiar case of chronic progressive external ophthalmoplegia of maternal inheritance that began at birth, and developed with slow progression but with no multisystemic involvement. Non of the affected individuals had ragged-red fibers in skeletal muscle.

[Idiopathic catastrophic epileptic encephalopathy: an untreatable convulsive malady in infancy].

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.

Acute hemiparesis in a boy with type 1 diabetes.

Unlike the case in adult-onset diabetes, neurologic complications in children with type 1 diabetes are uncommon. We report a case of a 14-year-old boy with type 1 diabetes who presented at our emergency unit with acute hemiparesis and intense headache without hypoglycaemia. Two hours after onset, the symptoms had subsided.

[Hypomelanosis of Ito. A possibly under-diagnosed heterogeneous neurocutaneous syndrome].

Introduction: Hypomelanosis of Ito (HI) or incontinentia pigmenti achromians is a multisystemic neurocutaneous disorder that is associated to neurological complications in a high percentage of patients.

Aims: The purpose of this study is to review the most significant features in a series of 14 patients with HI.

Patients And Methods: We conducted a retrospective study in which the following data were analysed: age, sex, familial and personal history, clinical features and complementary explorations that were carried out.

[Pharmacology in epilepsy. Where are we heading for?].

Aims: The aim of this study was to conduct a critical evaluation of the contribution made by the latest antiepileptic drugs (AED) and to describe the pharmacological therapeutic strategies, which do not contemplate the use of traditional AED, employed to treat pharmacoresistant patients.

Development: After comparing the mechanisms of action, as well as the pharmacokinetic and pharmacodynamic characteristics of the classical and new AED, and examining the advantages and disadvantages of each of them, it still turns out to be impossible to achieve a total control of seizures in 20-25% of cases. This is due to the polymorphisms of the enzymes and of their inducers, to the over-expression of the carrier proteins (PGP, MRP) and to polymorphisms undergone by the receptors.

[Microcephalus as the reason for visiting a regional referral neuropaediatric service].

Introduction: The first contact between the patient and clinician takes place when the former visits because of some health problem.

Patients And Methods: We carried out a review of the clinical records of children who had visited the Neuropaediatric Service because of, among other reasons, an isolated or associated microcephalus over a period of 12 years and 9 months. Factors that were considered included whether or not there was a cephalic perimeter below p3 and evidence of encephalopathy, as well as its prenatal, perinatal or postnatal origin, functional diagnoses and the aetiological diagnosis.

[Effectiveness and tolerability of levetiracetam in 43 children and adolescents with epilepsy].

Introduction: Levetiracetam (LEV) is the latest antiepileptic drug (AED) to be marketed, and is indicated for use in association in adults with focal seizures.

Aims: The purpose of this study is to report on our experience of administering LEV to children and adolescents with pharmacoresistant epilepsies.

Patients And Methods: Retrospective open trial involving the observation of 43 children and adolescents with refractory epilepsies, using associated LEV for more than 6 months on an individual basis, the aim of which was to evaluate the repercussions on the frequency of the seizures, together with the adverse and beneficial side effects of LEV administration.

[Phenotypic variability of deletion 22q11.2. An analysis of 16 observations with special emphasis on the neurological manifestations].

Introduction: The microdeletion 22q11.2 affects 1/4000 live births and constitutes the most frequent interstitial chromosomal alteration in humans. It is involved in a heterogeneous series of phenotypic expressions.

[Attention deficit hyperactivity syndrome].

Introduction: Attention deficit/hyperactivity disorder (ADHD) is an early onset childhood condition that is estimated to occur in 7-10 % of school age children.

Development: There are two specific syndromes: a) Attention deficit disorder, without hyperactivity; b) A more complex syndrome, with hyperactivity, with traits of impulsivity, accompanied by attention deficit disorder. The etiology of this syndrome is still unclear, but there have been some hypothesis about hypoperfused areas in the frontal lobe, in some patients where PET has been available.

[The efficiency of carbamazepine in a case of post-streptococcal hemichorea].

Introduction: Chorea is an infrequent disorder at the paediatric age which has a number of both hereditary and acquired causes. Post-streptococcal or Sydenham's chorea (SC) is still the main cause of chorea in children, in spite of the drop in prevalence of rheumatic fever in the last few years. SC is a benign, self-limiting disorder, but may last for several months and can be highly disabling.