[Nutritional and surgical management of short bowel syndrome. Our last 6 patients' experience].

Background: Children cause of intestinal failure is short-bowel syndrome. It provokes an altered absorption of nutrients and makes patients to be dependent on parenteral nutrition (PN) while they wait or not for an intestinal transplantation, with its side effects. It is crucial to achieve the maximum efficiency of remaining intestine.

Myofibroblastic tumor causing severe neonatal distress. Successful surgical resection after embolization.

This report describes a case of a term male 3.1 kg, normal delivery, 38 weeks of gestation with a record of hydramnios by prenatal sonography. He had fetal acute suffering and respiratory distress.

[Encephalopathy with methylmalonic aciduria and homocystinuria secondary to a deficient exogenous supply of vitamin B12].

Introduction: A deficient supply of vitamin B12 can appear early during the first months of life, with haematological and neurological symptoms in the form of progressive encephalopathy.

Case Reports: We describe two patients with megaloblastic anaemia and halted somatic and cranial perimeter development, accompanied by neurological involvement. Both of them had an increased rate of excretion of methylmalonic acid, as well as homocysteine, in urine with extremely low serum levels of vitamin B12, as compared to normal values.

[Movement disorders of functional origin (psychogenic) in children].

Patients And Methods: Sixteen cases of functional (psychogenic) pediatric movement disorders (PMD) have been analyzed. They represents 2.4% of a PMD personal series (age of onset less than 18).

[Primary versus secondary stereotypic movements].

Stereotypic movements are repetitive patterns of movements whose physiopathology and relations to other neurobehavioural disorders are still only poorly understood. In this paper our aim is to distinguish between primary stereotypic movements, which are the sole manifestation of an anomaly, while the complementary examinations, except for those involving molecular genetics, are normal; associated stereotypic movements, when they meet primary disorder criteria but there are other coexisting independent neurological signs, that is to say, they are neither the cause nor the consequence of the movement disorder; and secondary stereotypic movements, when they are the consequence of a lesion or acquired neurological dysfunction. Examples of primary stereotypic movements include episodes of parasomnia, such as head rocking, in subjects who are otherwise normal, and stereotypic movements due to emotional disorders, severe environmental deprivation or in institutionalised infants.

[Course and treatment of progressive subacute encephalopathy caused by human immunodeficiency virus in children. The value of Botulinum toxin].

Introduction: Progressive subacute encephalopathy due to human immunodeficiency virus (PSE-HIV) is an important cause of morbidity and mortality in perinatal HIV infection. Although current combined antiretroviral therapies do manage to check its progression, they often give rise to severe motor sequelae that are similar to the spastic infantile cerebral palsy resulting from other aetiologies. We present the case reports of four preschool age children suffering from this pathology who have benefited from long term treatment with botulinum toxin type A (BTA).

[Factor V Leiden mutation as a cause of venous thrombosis].

Introduction: Venous thrombosis is infrequent in paediatrics. A lot of prothrombotic risk factors have been described. Disturbances of coagulation are present in more than half of children with stroke.

[West's syndrome. Analysis, aetiological factors and therapeutic options].

West's syndrome (WS), which is also known as infantile myoclonic encephalopathy with hypsarrhythmia, is one of the generalized epileptic syndromes with a cryptogenic or symptomatic origin. It is an age-dependent epileptic syndrome. The latest neuroimaging techniques have enabled us to gain a better understanding of its physiopathology and to identify new aetiological factors responsible for the clinical symptoms.

[Botulinum toxin Type A. Indications and results].

Introduction: Since introduction for clinical in the 80s, the botulinum toxin type A is being used with effectiveness in the treatment of different disorders that goes with exaggerated muscular activity. Numerous studies have been demonstrated useful for focal treatment of spasticity.

Patients And Methods: Some indications of the botulinum toxin type A for the treatment of the cerebral palsy are reviewed, emphasizing that it use must be in a global planning.

[Orally administered drugs in the treatment of spasticity].

Spasticity is a common problem in paediatric neurology and its management constitutes a real professional challenge. There are numerous therapeutic options available and their advantages and disadvantages should be carefully weighed up for each individual patient. It is true that we do not have one single final option, but experience and knowledge of the therapeutic possibilities favour the functional improvement of patients suffering from spasticity.

[Congenital errors of metabolism with epileptic seizures during the first years of life].

Objective: In this paper we review the main aetiologies of metabolic origin which cause epilepsy in children aged between 1 and 10 years.

Development: There are many aetiological causes of convulsive seizures. Seizures and epilepsies due to congenital errors of metabolism are a minority but should be known.

[New discoveries regarding the physiopathology of the cerebellum].

Objectives: To report recent advances regarding the physiopathology of the cerebellum in childhood.

Development: Many advances have been made in understanding the physiopathology of the cerebellum so we have limited ourselves to evaluation of the data available on the possible part played by the cerebellum in cognitive function. We then give details of the congenital disorders of metabolism in which the cerebellum is directly involved, especially neuro imaging aspects.

[Magnetic Resonance in children with dyskinetic cerebral palsy secondary to perinatal injury].

Introduction: The incidence of perinatal factors in the dyskinetic cerebral palsy (DCP) is high. The introduction of the magnetic resonance (MR) has improved our understanding of the pathophysiology and early diagnosis of injury.

Objective: Review the clinical characteristics of a group of patients with DCP and the appearance of their MR.

[Abnormal antioxidant system in inborn errors of intermediary metabolism].

Introduction: Oxidative stress may be implied in the pathogenic mechanisms of inborn errors of intermediary metabolism (IEIM).

Objective: The evaluation of the antioxidant status in IEIM by the measurement of erythrocyte antioxidant enzyme activities, superoxide dismutase (SOD), glutathione peroxidase (GPx), glutathione reductase and catalase.

Patients And Methods: 34 patients with IEIM: 1) eleven with organic acidurias on protein restricted diet; 2) nine without special diet; 3) five patients with aminoacidopathies on protein restriction; 4) three patients with galactosemia and six with aminoacidopathies on protein free diet.

[Cerebellar hemorrhage in full-term newborn babies].

Introduction: Cerebellar hemorrhage (CH) has been observed in 5 to 10% of the autopsies done on newborn babies. Since neuroimaging techniques have become available it is easier to diagnose the condition. In this paper we report on a series of cases of CH in full-term newborn babies.

[Evolution of a case of tyrosinemia type I treated with NTBC].

Tyrosinemia type I is an autosomal recessive inherited disorder caused by deficient fumarylacetoacetase activity. Treatment with 2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexanedione (NTBC), an inhibitor of 4-hydroxyphenylpyruvate dioxygenase, has successfully been applied for the last few years. Our aim was to evaluate the clinical and biochemical response to treatment with NTBC of a 18-year-old patient with a chronic form of tyrosinemia type I, whose main clinical feature was vitamin D-resistant rickets leading to severe osteoporosis with multiple bone fractures and skeletal deformities.

[The newborn infant at neurologic risk in the year 2000. Recommendations for the follow-up, incorporation of new instruments].

Introduction: Perinatal mortality has dropped markedly in recent years. However, there is still a considerable prevalence of neurological sequelas. Symptoms may present during the first months of life or later.

[Convulsions and epileptic syndromes of the newborn infant. Forms of presentation, study and treatment protocols].

Objectives: To review the different forms of presentation of convulsions and epilepsies in the newborn, and to establish a protocol for diagnosis and treatment.

Patients And Methods: To achieve this we reviewed the literature and our own series over the past 15 years of 179 newborn babies with convulsions.

Results And Conclusions: We present the results of the etiological analysis of neonatal convulsions.

[Advances in neonatal neurology].

Introduction: Notable changes have occurred in the field of neonatology in recent years. Logically, neonatal neurology has made a major contribution to this progress.

Development And Conclusions: Knowledge in the field of neonatal neurology has multiplied: fetal neurology has developed, fetal and neonatal welfare is better understood, and spectacularly modified by techniques of assisted ventilation.

[Proposed protocol for the study of cerebrovascular disease in childhood].

Aim: The etiology of cerebrovascular disease in the paediatric population, remains unknown in up to 40% of the cases ("idiopathic"), but recent advances could improve this percentage. We devised a comprehensive study protocol for such investigation aimed at the identification of potentially modifiable risk factors for paediatric stroke.

Patients And Methods: From the 141 patients initially registered in our data base for stroke population (from January 1984 until December 1995), we invited all the patients with idiopathic cerebrovascular disease to complete the study protocol.

[Epileptic syndromes in the first year of life and congenital errors of metabolism].

Introduction: Early infantile epileptic encephalopathy includes two epileptic syndromes of the neonatal period: the Ohtahara syndrome and early myoclonic epilepsy of Aicardi. Both conditions are severe forms of neonatal epilepsy with bad prognosis (both neurological and vital). Some cases are due to metabolic defects or cortical dysplasia-type cerebral malformations.

Development of a Spanish (Castillian) version of the Childhood Health Assessment Questionnaire. Measurement of health status in children with juvenile chronic arthritis.

Objective: To demonstrate that the Spanish (Castillian) version of the Childhood Health Assessment Questionnaire (cHAQ-S) is a valid and reliable instrument for measuring the health status of children with juvenile chronic (or rheumatoid) arthritis (JCA) and is sensitive to change.

Methods: A conceptual translation of the original questionnaire into Spanish and two back-translations were performed. The cHAQ-S was completed by the parents of young children (aged 1 to 19 years) affected by JCA, and additionally by those children aged over 9.