[The impact of sociofamilial factors on nutritional status in mentally retarded children].

Introduction: Mental retardation (MR) constitutes a clinical and social relevant condition accounting for 3% of the pediatric population. Studies focusing the repercussion or MR on nutritional status are scarce and, in occasions, have produced contradictory results.

Objective: To evaluate the nutritional status of mentally retarded children in our region, on the basis of the influence of sociofamilial factors, including details of diet and appetite.

[Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation].

Introduction: gamma-sarcoglicanopathies, also classified as limb girdle muscular dystrophy type 2C (LGMD2C) are a group of autosomal recessive muscular dystrophies due to mutations in 13q12 and subsequent g sarcoglican deficiency. The protein is one of the components of the dystrophin associated glycoprotein complex and is thought to impart structural integrity to the myofibre. The clinical course of the disease may be heterogeneous, ranging from severe forms with onset in the first decade and rapid progression resembling Progressive Duchenne muscular dystrophy (DMD) to milder forms with later onset and slower course.

[Basic principles of epidemiological studies of epilepsy].

Objective: Until recently there were few epidemiological studies of epilepsy. This was probably due to lack of knowledge of concepts of epidemiology and lack of common criteria for the design of investigations. Fortunately, in recent years many studies have been published in both developed and undeveloped countries, in different age groups and dealing with all aspects of epilepsy.

Epileptic disorder as the first neurologic manifestation of blue rubber bleb nevus syndrome.

Blue rubber bleb nevus syndrome is an uncommon neurocutaneous disorder characterized by distinctive vascular malformations on the body surface. Vascular malformations of internal organs (typically the gastrointestinal tract) are also frequently present. However, malformations of the central nervous system have only rarely been described.

[Repercussion of mental retardation and associated cerebral palsy on skeletal maturation].

Introduction: Mental retardation (MR) constitutes a clinical and social relevant condition accounting for 3% of the pediatric population. Studies focusing the repercussion of MR on nutritional status are scarce and, in occasions, have produced contradictory results.

Objective: To evaluate the nutritional status of mentally retarded children in our Region, on the basis of skeletal maturation.

[Epileptic channelopathies].

Objective: At the present time the study of epileptogenesis is becoming increasingly interested in the function of ionic channels in which localization of new gene sites and mutations have been aetiopathogenically related to certain syndromes involving epilepsy. The pathology of these channels known as channelopathies is responsible for a certain number of conditions affecting the central nervous and neuromuscular systems. Its clinical expression is often paroxystic.

[Benign partial epilepsies of childhood].

Objective: To carry out, by means of a literature review, an update of the entities that can be included within the group of benign partial epilepsies of childhood.

Development: Among partial epilepsies with onset in the first stages of life, a group extended in the last years with a favourable course and a trend to reverse, even spontaneously, has been identified. Some of these entities have a genetic origin but we do not know the mechanisms by which these epilepsies show a self limited course, which have given rise to the denomination of epilepsy that comes and goes; nevertheless, an evolution to other more complex forms is also possible.

[Cerebral infarct in childhood as a complication of migraine with aura. A case report].

Introduction: A migrainous infarct is a complication which may occur during the course of an attack of migraine, especially during the phase of the aura. It is the cause of between 1 and 14% of the cerebral infarcts in children. Even today there is still controversy as to whether it occurs in childhood, in spite of a strongly based clinical suspicion of it, since it is difficult to prove the chain of clinicopathological events scientifically.

[Alpha coma: clinical, electroencephalographic and aetiological correlation in childhood].

Introduction: Alpha coma is defined as the appearance, in an unconscious patient, of EEG activity in the alpha frequency band (8-13Hz).

Objective: To determine, in our setting, the incidence, aetiology, clinical significance and course of alpha coma in paediatric patients and review the literature.

Patients And Methods: We did a retrospective study of the patients admitted to a paediatric intensive care unit who had alpha activity recorded whilst in coma.

[Idiopathic partial epilepsy syndromes].

Objective: In this paper we wish to review the main characteristics of idiopathic partial epilepsy syndromes recognized in the International Classification of epilepsies and epileptic syndromes and of other syndromes which have been described but not yet included in this classification, with special emphasis on the clinical condition, electroencephalographic aspects and progress.

Development: The idiopathic partial epileptic syndromes are characterized by the absence of a subjacent cerebral lesion and neurological or intellectual deficit. In most cases there is a definite genetic predisposition.

[Narcolepsy in children].

Introduction: Narcolepsy is a neurological disorder characterized by excessive somnolence during the daytime, with recurrent, irresistible episodes of sleepiness. The complete forms are associated with cataplexy, hypnagogic hallucinations and sleep paralysis. The incidence reported in adults is 4 10/10,000.

Congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy: a possible relation with mitochondrial dysfunction.

We report the case of a fetus aborted at gestation week 20 because of hydranencephalic-hydrocephalic syndrome. The fetus was the third pregnancy of a nonconsanguineous couple whose first child exhibited congenital hydranencephalic-hydrocephalic syndrome associated with muscle histology findings consistent with mitochondrial cytopathy and deficiency of complexes III and IV of the respiratory chain and whose second pregnancy had terminated in an elective abortion on detection of progressive hydrocephalus at gestation week 19. The third pregnancy had a normal course according to obstetric and ultrasonography examinations performed at gestation weeks 5, 10, and 15, and negative results were obtained in standard serologic and polymerase chain reaction (PCR) tests for prenatal infections of the mother.

[Use of antiepileptic drugs in non epileptic disorders].

Introduction: Over the past ten years there have been major advances in understanding the neurochemistry of the brain. This has led to better understanding of the mode of action of the classical antiepileptic drugs and the development of new drugs with better pharmacokinetic and pharmacodynamic characteristics. For this reason and also due to their wide mode of action, they have begun to be used for other clinical disorders, particularly neuropathic pain, in the prophylaxis of migraine, in psychiatric disorders and for neuroprotection.

[Frequency of movement disorders in children].

We analyze the main clinical characteristics of a series of 800 patients seen by us, who had movement disorders which had started during childhood. The results are compared with those movement disorders of adult onset reported in the literature.

[Orphan drugs and orphan diseases].

Objectives: To define the concepts of orphan drugs and diseases, the current situation of clinical investigation of them, the attitude of the pharmaceutical industry and aspects of health legislation, especially in the European Community.

Development: We review the history of orphan drugs, the name used for those drugs, apparatus, biological agents and dietetic preparations used to treat diseases so rare as to affect 650 1,000 persons per million inhabitants. Approximately 5,000 of such disease have been identified.

[Pharmacological treatment with risperidone in children with behavior disorders].

Introduction: Behavior disorders are frequently seen in children attending a neuropaediatric clinic. The classical neuroleptic drugs are usually used for treatment. However response tends to be irregular with adverse effects at a cognitive level and extrapyramidal symptoms.

[Bilateral hypodensity of the basal ganglia. Clinico-evolutionary correlation in children].

Introduction: The presence in neuroimaging of areas of symmetrical bilateral hypodensity in the basal ganglia (SBHBG) is a striking and unusual finding.

Objective: To determine the aetiology, clinical significance and evolution of a group of paediatric patients with SBHBG.

Patients And Methods: We made a study of 21 patients with neuroimaging studies (CT or MR) showing SBHBG.

[Schilder's diffuse myelinoclastic sclerosis].

Objective: The aim of this study is to analyze clinical features, neuroradiological findings and evolution associated with Schilder s disease (SD).

Patients And Methods: We describe 5 cases (4 female/1 male) diagnosed of SD. Clinical characteristics, neuroimaging (CT and MRI), EEG, evoked potential analysis (4/5) and laboratory tests are provided, including the level of serum very long chain fatty acid of plasma cholesterol esters (3/5).

[Therapeutic strategy in severe encephalopathies].

Introduction: The severe epileptic syndromes of infancy are dependent on age, symptomatic or cryptogenic aetiology and are drug-resistant so that overall prognosis control of epilepsy and adequate cognition is poor so that some authors consider it to be catastrophic. All may be identified and differentiated on electroclinical criteria.

Development: We study the neonatal myoclonic encephalopathies in the two clinical forms described by Aicardi and Ohtahara, West s syndrome (infantile spasms), severe myoclonic epilepsy of Dravet-Dalla Bernardina and the Lennox-Gastaut syndrome, briefly describing their electroclinical semiology and therapeutic strategies using the range of available drugs, together with other medical and surgical therapeutic options.

[Joubert's syndrome: report of 12 cases].

Introduction: Joubert syndrome is a rare autosomal recessive disorder whose main clinical signs are hypotonia, ataxia, mental retardation, abnormal eye movements and a respiratory pattern of alternating tachypnea-apnea during first months of life. The most characteristic imaging features are elongation and thinning of the pontomesencephalic junction with deepening of the interpeduncular fosse, thickening of the superior cerebellar peduncles, hypoplasia of the vermis and incomplete fusion of the halves of the vermis, creating a sagittal vermic cleft. The first three findings are components of the molar tooth sign .

[Focal cerebral ischemic or hemorrhagic lesions in the term newborn. Review of the last decade].

Introduction: Although focal cerebral ischemic or hemorrhagic lesions are infrequent in the term newborn, they must be considered when neurologic symptoms appear, especially when seizures are present.

Objective: Possible risk factors to suffer from these pathologies have been studied, as well as their evolution, to try to give a prognosis.

Patients And Methods: The term newborns with focal ischemic or hemorrhagic cerebral lesions who presented symptoms in the neonatal period have been studied for 10 years (January 1990-March 2000) in our Children s Hospital Miguel Servet of Zaragoza (Spain).

[Early onset adhalinopathy (LGMD2D) mimicking congenital muscular dystrophy].

Introduction: The recent discovery of the dystrophin-associated complex of glycoproteins led to the delineation of sarcoglycanopathies, a phenotypically similar to dystrophinopathies group of clinically heterogeneous and progressive muscular dystrophies. The objective of this paper is to report the clinical, biochemical, histological, immunohistochemical and molecular genetics characteristics observed in a case of adhalinopathy (alpha-sarcoglycanopathy or LGMD2D) presenting in early months of life and resembling congenital muscular dystrophy.

Clinical Case: An 12-year old school boy, the third son of a healthy, young, non consanguineous couple, presented at birth with bilateral cleft lip, cleft palate and mild hypotonia.

[Joint presentation of facial hemangioma, posterior fossa malformation, and carotid-vertebral hypoplasia (Pascual-Castroviejo syndrome II): report of 2 new cases].

Introduction: The association of external capillary hemangiomas with intracranial malformations (vascular or nonvascular) was first described by Pascual-Castroviejo in 1978. The commonest anomalies found included: Dandy-Walker syndrome, cerebellar hypoplasia, arterial angiomas and alterations in the origin or distribution of the main cerebral arteries. In 1996 the same author named it the 'hemangiovascular complex syndrome'.

[Early assessment in perinatal hypoxia. Prognostic markers].

Introduction: Perinatal asphyxia and its neurological signs are the most important cause of brain damage and neurological sequelae in full term newborn babies. Neuroprotection treatments currently being investigated promise to reduce such sequelae, but these treatments are not without risk and the patients involved should be selected.

Objective: To analyze a scale composed of variables recorded from the start of delivery until the fourth hour of life, comparing the neurological evolution of the patients.