[Polymicrogyria: epidemiology, neurological and anatomical factors and clinical outcome in a series of 34 cases].

Introduction: The aim of our study is to describe the epidemiology, clinical evolution, and the anatomical and neurological factors involved in polymicrogyria in 34 patients with this disorder.

Subjects And Methods: We have compiled 34 patients diagnosed and/or in follow-up at the Department of Paediatric Neurology of the Hospital Infantil Niño Jesús between 1995 and 2010. All the patients had a magnetic resonance imaging suggestive of polymicrogyria, and most of the patients still have periodic checks, thus their outcome is known.

The influence of valproic acid and carbamazepine treatment on serum biotin and zinc levels and on biotinidase activity.

We determined the serum concentration of biotin, zinc, antiepileptic drugs, and biotinidase enzyme activity in 20 children treated with valproic acid, in 10 children treated with carbamazepine, and in 75 age- and sex-matched healthy controls. There were no significant differences in the serum levels of biotin, and biotinidase enzyme activity between the patients treated with valproic acid, the patients treated with carbamazepine, and the control group. Zinc serum levels were lower in the patients treated with valproic acid and with carbamazepine than in the control group, but within the normal range.

[Panayiotopoulos syndrome: academic difficulties and behavioural disorders].

Introduction: Panayiotopoulos syndrome (PS) is one of the benign epilepsies found in childhood. Some papers have shown that patients can present behavioural disorders and learning difficulties.

Aims: To review patients diagnosed with PS in our hospital and to check whether they display evidence of such disorders and if there is any specific feature that allows high-risk patients to be identified.

Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.

Sepiapterin reductase (SR) catalyzes the final step in the de novo synthesis of tetrahydrobiopterin, essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases. SR deficiency is a very rare disease resulting in monoamine neurotransmitter depletion. Most patients present with clinical symptoms before the first year of age corresponding to a dopa-responsive dystonia phenotype with diurnal fluctuations, although some patients exhibit more complex motor and neurological phenotypes.

Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant.

The spectrum of the adenosine monophosphate (AMP) deaminase deficiency ranges from asymptomatic carriers to patients who manifest exercise-induced muscle pain, occasionally rhabdomyolysis, and idiopathic hyperCKemia. However, previous to the introduction of molecular techniques, rare cases with congenital weakness and hypotonia have also been reported. We report a 6-month-old girl with the association of congenital muscle weakness and hypotonia, muscle deficiency of adenosine monophosphate deaminase, and the homozygous C to T mutation at nucleotide 34 of the adenosine monophosphate deaminase-1 gene.

[Neurocysticercosis diagnosis and management in Peru].

Neurocysticercosis (NCC) is the most common parasitic disease of the central nervous system and is caused by larvae of the tapeworm Taenia solium. NCC is endemic in almost all developing countries. It presents as intraparenchymal forms associated with seizures or as extraparenchymal forms associated with intracranial hypertension.

[Cerebral venous thromboses in the paediatric age: clinical presentation, risk factors, diagnosis and treatment].

Introduction: Since its first description at the beginning of the 19th century, greater awareness of this disorder has been achieved, becoming nowadays a recognized but sometimes underdiagnosed cause of ischemic stroke in childhood. AIM. To describe a population of children with cerebral venous thrombosis, analyzing clinical presentation, risk factors, treatment and evolution.

[Infantile convulsions with mild gastroenteritis: epidemiological and clinical characteristics and outcome].

Aim: To analyse the epidemiological, clinical and developmental characteristics of a group of children with seizures associated with mild gastroenteritis in order to facilitate the diagnostic suspicion of the condition in daily clinical practice.

Patients And Methods: We conducted a retrospective review of the medical records of 24 patients who were admitted to hospital between January 2001 and December 2008 because they presented seizures associated with mild gastroenteritis: epidemiological, clinical and developmental data were collected.

Results: The mean age at diagnosis was 18.

[Dissections of craniocervical arteries in the paediatric age: a pathology that is emerging or under-diagnosed?].

Introduction: Cranio-cervical arterial dissections are a recognized cause of ischemic stroke in childhood, with an approximate incidence of 0.4 to 20%. AIM.

Serum biotinidase activity in children treated with valproic acid and carbamazepine.

There is evidence that valproic acid causes a reduction of serum biotinidase enzyme activity. We determined the serum concentration of antiepileptic drugs, transaminases, gamma-glutamyl transferase, ammonia, and biotinidase enzyme activity in 57 children treated with valproic acid, in 17 children treated with carbamazepine, and in 75 age- and sex-matched healthy controls. There were no significant differences in the serum biotinidase enzyme activity between the patients treated with valproic acid, the patients treated with carbamazepine, and the control group.

[Guillain-Barre syndrome in the paediatric age: epidemiological, clinical and therapeutic profile in a hospital in El Salvador].

Introduction: Guillain-Barre syndrome (GBS) is an acute polyradiculoneuropathy with, in most cases, an autoimmune aetiology. It manifests as a flaccid motor paralysis, of a distal ascending type, accompanied by areflexia with or without sensory alterations.

Aim: To determine the clinical and therapeutic epidemiological profile of patients diagnosed as suffering from GBS who were attended at the Benjamin Bloom Children's Hospital in El Salvador, between 1st January 1997 and 31st December 2004.

[Epilepsy and epileptic syndromes during the first year of life].

Aim: To analyse the epidemiological characteristics and the relative distribution of the different types of epilepsy and epileptic syndromes during the first year of life.

Patients And Methods: An analysis was performed of the patient records of all patients with epilepsy diagnosed during their first year of life who were submitted to a developmental check-up in the year 2007. The sample consisted of 60 patients (27 boys and 33 girls).

[Psychosocial aspects of childhood epilepsy].

Epilepsy is without a doubt one of the most ancient and enigmatic conditions in the history of medicine, as it was already described in remote times. From the ancestral obscure understanding of epilepsy to the present, there have been important scientific advances in the knowledge of its diagnosis and treatment. The management of a child with epilepsy requires following a protocol that includes a detailed clinical and laboratory evaluation.

[Coding in neuropediatrics based on the International Classification Diseases, 9th revision (ICD-9), 5th edition (2006)].

Aims: To analyze International Classification Diseases, 9th revision (ICD-9) coding and adapt it, on a consensus basis, to 'reasons for medical consultation', 'diagnoses' and 'procedures' in child neurology.

Materials And Methods: The most frequent reasons for medical consultation, diagnoses and procedures in neuropediatrics were selected and assigned the most appropriate ICD-9, Clinical Modification (5th ed.) (ICD-9-CM) codes in accordance with this system's coding rules.

Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme.

Pompe disease is a rare autosomal recessive lysosomal storage disease caused by deficiency of acid-a-glucosidase (GAA). This deficiency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage and organ dysfunction. Patient age at the onset of Pompe disease symptoms and the rate of deterioration can vary considerably.

[Sleep disturbances among children and adolescents with learning disabilities. Comparative study between students from a mainstream school and a special school in the Valencia Community (Spain)].

Introduction: Sleep disturbances affect daytime behaviour and cognitive functions in children. These disorders make the situation worse in children who already have learning difficulties. The objective of the present study was to study the prevalence of sleep disturbances among children from special schools and carry out a comparative study with children from mainstream schools.

[Rufinamide. A review of its pharmacokinetic and pharmacodynamic properties].

Aim: To review the most important research published on the pharmacokinetic and pharmacodynamic properties of rufinamide (RFM), together with the outcomes of the clinical trials conducted to date with this new antiepileptic drug.

Development: RFM is a triazole derivative with no structural relation to the other antiepileptic drugs, and the effectiveness and safety profiles shown in laboratory animals suggest that it could be effective in the treatment of partial and generalised seizures. In fact, in double-blind trials RFM has proved to be effective and well tolerated in adults with intractable partial seizures and in patients between 4 and 30 years of age with Lennox-Gastaut syndrome.

[How valuable are genetic studies in paediatric neurology?].

Introduction And Development: Paediatric neurology is fully aware of the fact that important advances in genetics are being applied to the clinical and prenatal diagnoses of a wide range of diseases. The discovery of new genes related to a growing number of pathologies with neurological implications opens up new diagnostic approaches and provides information that is very useful in the process of detecting carriers and identifying pre-symptomatic individuals. More selective genetic techniques with higher resolutions are increasingly more commonly available in genetic laboratories, as is the possibility of sequencing and searching for specific mutations in certain genes; for some processes their application to clinical practice has made them the initial diagnostic approach.

[Botulinum toxin in infantile cerebral palsy].

Introduction: A number of studies have proved the effectiveness and safety of botulinum toxin in therapeutic doses.

Aim: To analyse the results obtained over a 12-year period in which botulinum toxin type A (BTA) was used to treat infantile cerebral palsy (CP).

Patients And Methods: Of a total number of 547 patients who were treated, 515 had CP, 464 with spasticity, 46 with mixed CP and 5 with dyskinetic CP with focal dystonia.

[Attention deficit and hyperactivity disorder, a current problem].

Introduction: Attention deficit disorder and hyperactivity (ADDH), is a condition that affects the normal development of children. The symptoms include difficulty of controlling physical activity, inattention and learning disorders. The ADDH must be diagnosed in accordance with the clinical findings defined in the DSM IV.

[Genetic and clinical diagnosis of Angelman syndrome. Case Reviews].

Introduction: Angelman syndrome is characterised by mental retardation, epilepsy, speech impairment, facial dysmorphism and a characteristic behavioural phenotype. Diagnostic clinical criteria have been defined by consensus since 1995. It is caused by deficiency or inactivation of the UB3A gene.

Respiratory chain complex I deficiency in an infant with Ohtahara syndrome.

We report an infant with complex I deficiency of the mitochondrial respiratory chain whose most conspicuous symptom at presentation was an Ohtahara syndrome. Review of the literature suggest that association of these two conditions is extremely rare. Despite the few cases reported, in our view Ohtahara syndrome should be considered as one of the forms of presentation of mitochondrial dysfunction.

[Congenital brachial palsy: its epidemiology and sequelae. A retrospective study of our case mix].

Aim: To conduct a retrospective study of cases of congenital brachial palsy, focusing on its incidence, clinical manifestations and long-term course.

Patients And Methods: A systematized study of all the cases of congenital brachial palsy detected in the Hospital La Paz between January 1994 and December 2003 was carried out with the aim of recording data on the pregnancy, gestational age, type of delivery, presentation, sex and weight at birth, Apgar test and the arterial pH of the umbilical cord. It also sought to estimate the type of brachial palsy, the side that was affected, electromyographic findings, associated insults, treatment and progress.