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Introduction: The aetiology and clinical features of peroxisomal diseases vary widely. An altered very-long-chain fatty acid (VLCFA) profile is commonly found in many of these diseases, and this makes it easier to point the diagnosis in the right direction., Patients and Methods: We review our experience in the diagnosis of cases of peroxisomal diseases with an altered VLCFA pattern; these were determined in serum only when there was a strong clinical suspicion up to the end of 1998, when their quantification by chromatography was introduced into our laboratory., Results: The neuropaediatric database included 10,239 cases between May 1990 and 1st October 2007. Ten cases of peroxisomal disease with an altered VLCFA pattern were identified, all of them males. There were two cases of Zellweger syndrome spectrum, one unclassified peroxisomal oxidation defect and seven X-linked adrenoleukodystrophies (four with neurological compromise and three with no neurological damage; two were identified in siblings of patients and the other due to the presence of Addison's syndrome)., Conclusions: In our 10 cases, the diagnosis was guided by the clinical or familial features that led to the determination of VLCFA. Being able to determine VLCFA makes early systematic diagnosis of patients possible. At present, VLCFA determination is performed when there is a clinical suspicion of Zellweger spectrum, suspected X-linked adrenoleukodystrophy/adrenomyeloneuropathy of unclear causation, Addison's disease, both in males and females, and above all in cases of chronic encephalopathy of unknown causation, with or without prenatal onset.

Objective: We review retrospectively the clinical histories of patients who were immediately switched from carbamazepine (CBZ) to oxcarbazepine (OXC), being administered a minimum of 1.3 times the CBZ dosis in 2 daily dosis of OXC., Method: The immediate switching was carried out in 22 paediatric cases. 17 patients were taking CBZ in monotherapy and 5 in politherapy. The change was made in 20 cases to lower the number of seizures (and to avoid side effects in 4 of them), and in 2 only to reduce drowsiness and fatigue. The average change was from 18.62 mg/kg of CBZ to 28.89 mg/kg of OXC. The medium change rate was 1.6:1 (maximum: 2:1)., Results: In 19 cases there were no side effects. With one boy, the essential tremor worsened and two girls became more tired and drowsy. Three experienced less drowsiness and one less weight increase. Twelve cases showed no seizure changes. Five cases became immediately seizure-free, three of them for a prolongated time. There was a reduction in seizure frequency in 2 cases, with posterior disappearance in one of them. Three cases experienced a reduction in seizure intensity. In two cases OXC was stopped after 24 seizure-free months. Fourteen patients were still taking OXC, 8 in monotherapy, with a mean follow-up of 31.5 months., Conclusion: Given the potential benefits, ease and good tolerability, we advise trying with immediate switching to OXC, before adding another antiepileptic drug to CBZ.

Introduction: Type I Chiari malformation consists on the caudal displacement of cerebellar tonsils through the foramen magnum. It is often asymptomatic, although it may display symptoms as a result of cerebellum, brainstem, high cervical spinal cord or the lower cranial nerve, involvement., Objective: We report our experience over the last 16 years. We have identified 16 patients with type I Chiari malformation. Only 2 cases showed common type I Chiari symptoms and just one had respiratory disorder as the first clinical sign., Clinical Case: A 15 year old girl presented with a 5 years' history of chronic daily cough aggravated by exercise. Snoring and sleep apnea had been noted by her mother for 1 year. The girl eventually suffered from migraine and diurnal hypersomnolence. The physical and neurological examination was normal with the only exception being the absence of bilateral nauseous reflex. A nocturnal polysomnography study demonstrated a pseudoperiodic pattern with apnea pauses associated to cycles of deep breathing, resulting in severe gasometric repercussion and bradycardia. Magnetic resonance imaging of the brain showed Chiari I malformation. Non-invasive mechanical ventilation treatment significantly improved the clinical symptoms and gasometric analysis., Discussion: Surgical posterior fossa decompression is discussed. Early decompression before appearance of irreversible neurological damage is recommended. It is associated with a significant reduction in the number of central apneas and sleep arousals. Surgical intervention is recommended in symptomatic patients and in cases of radiographic Chiari malformation or syrinx progression.

Introduction: The progress made in perinatal health care in recent years has changed the epidemiology of neurological diseases during the neonatal period. The reduction in neonatal mortality has been accompanied by an increasingly large number of patients suffering from disabling diseases or with a risk of suffering from them; a prolonged follow-up and the joint efforts of neonatologists and neuropaediatricians are therefore essential., Development: We review the welfare work and demand for health care for newborn infants with neurological disorders in our service, as well as perinatal neurological morbidity, the functioning of the follow-up outpatients department, and we also report some of the findings from our experience in following up high-risk newborn infants., Conclusions: The demand for neonatal health care is increasing, and it is important to take this into account so as to be able to plan better strategies for the use of health care resources and for caring for patients. In our population, preterm delivery and asphyxia are the chief perinatal factors leaving neurological sequelae, with an overall incidence that is similar to that reported in other research and a high proportion of severe sequelae. The follow-up programmes must be made cost-effective by better selection of the high risk population to be monitored and coordination with primary care paediatricians. Early detection of the deficits is essential to be able to implement early intervention, and this can be aided by a series of recommendations aimed at professionals and relatives, as well as by improved coordination between the different multidisciplinary groups involved in prevention and care programmes.

Introduction: The quality of the health care in a major part of neuropaediatrics benefits from appropriate communication and strategies that have been agreed with primary care (PC) paediatricians., Patients and Methods: We analyse the children who were assessed in the Neuropaediatric service at the Hospital Universitario Miguel Servet in Saragossa over a period of eight years and we also discuss the most important courses of action followed in the most prevalent problems., Results: Eight reasons for visiting accounted for 86% of the total number: paroxysmal disorders (33%), headache (27%), psychomotor retardation (11.5%), alterations affecting the shape or size of the head (5.6%), problems at school and/or attention deficit (4.5%), behavioural disorders (4.25%), gait disorders (3.5%) and perinatal distress (3.4%). The most frequent diagnoses are headaches/migraines (26%), non-epileptic paroxysmal disorders (16.5%), prenatal encephalopathy (10.5%), epilepsy (8%), mental retardation (7.5%), infantile cerebral palsy (4.6%), cryptogenic attention deficit hyperactivity disorder (ADHD) (3.8%) and cryptogenic autism (3.6%)., Conclusions: The PC paediatrician working in close relation with the children and their families in all cases is the person mainly responsible for conducting a follow-up on some of the most prevalent problems, such as headaches, many non-epileptic paroxysmal disorders and ADHD. The processes must be established, clearly specified, based on the best evidence, with the participation and within reach of all the professionals involved, in order to favour homogeneity and keep variability in the interventions to a minimum. Channels of communication, including the information and communications technologies, need to be set up to allow health professionals to be permanently up-to-date and capable of controlling their patients in the best possible way.

Introduction: In neuropaediatrics, the aetiological diagnosis rarely allows a causal treatment to be established. In many cases, all we can offer is referral to early intervention (EI) and botulinum toxin type A (BTA). The only requirement before starting both interventions is a functional or syndromic diagnosis., Patients and Methods: Here we analyse the experience gained from an EI programme carried out in the region of Aragon since February 2003 and with the BTA service in the Neuropaediatric Unit of the Hospital Universitario Miguel Servet since November 2003., Results: By the end of 2007, 2629 requests had been made for admission to the EI programme and in the year 2007 a total of 702 children were treated. In four years and four months 122 children with infantile cerebral palsy (ICP) were infiltrated with BTA, with positive results in 70% of cases and mild, transient side effects in 13.1%., Conclusions: The children, parents and professionals involved all view EI and BTA with satisfaction. Neuropaediatrics is one of the medical specialties that are best suited to child development and early intervention centres (CDIAT). The neuropaediatrician participates in all the stages of the EI: detection, diagnosis, information and intervention. He or she may act as the coordinating and homogenising element in EI, that is to say, as a link between CDIAT and health care services. Neuropaediatricians are also essential in EI training and education, in family training, information and awareness campaigns, primary care, social services and nurseries. Treatment with BTA cannot be viewed as an isolated technique, but instead as part of a programme in which physiotherapy, orthosis and sometimes surgery play a fundamental role. Coordination among the different professionals involved in treating the child with ICP is absolutely crucial.

Introduction: As result of our aim to improve the quality standard of our emergency system, work has been carried out in relation to the development and monitorization of effective clinical protocols in the department of paediatric practice., Patients and Methods: An evidence based review approach was taken to design a clinical protocol about Bell's palsy condition for the paediatric emergency department. Previous protocol approved in March 2003 was reviewed accordingly with the new designed protocol's quality standards. The Bell's palsy cases reported since March 2003 until June 2006 to paediatric emergency department were analyzed., Results: A total of 27 patients affected by Bell's palsy were reported to the hospital's emergency department. Facial expression was described in 85.19% of the cases. Cranial nerves normal function was reported in 77.78%. Fundoscopic examination was described in 77.78% and otoscopic findings in 44.44%; the absence of herpes vesicles was analyzed only in 11.11%. All patients received steroid therapy (prednisone) and the treatment resulted in the complete recovery. The mean time to resolution was 58.6 days., Conclusions: In order to improve hospital's quality standards, clinical protocols should be designed and verified regularly to ensure the proper performance. Medical auditing also contributes to improve effectiveness in health attendance.

Introduction: Hereditary neuromuscular diseases are disorders which can vary largely in their age of onset, symptoms and severity. Many are severe, disabling and have an important personal, familial and social impact and can restrict the prognosis for survival. The constant progress being made in diagnostics makes it necessary to continually update knowledge and information., Patients and Methods: We carried out a review of the hereditary neuromuscular diseases contained in the Neuropaediatrics database at the Hospital Miguel Servet in Zaragoza from May 1990 to October 2004., Results: Of the 7,805 patients in the database, 123 (1.5% of the total) were patients with hereditary neuromuscular diseases, of whom 71 were males and 52 females. These included: 35 sensory-motor hereditary neuropathies, 17 dystrophinopathies, 10 myotonic dystrophies, 10 spinal muscular atrophies, four merosin-deficient congenital dystrophies, four other muscular dystrophies, three mitochondrial myopathies, three myasthenias, two familial neuropathies with insensitivity to pain, two Friedreich's ataxias, one familial neuropathy with liability to pressure palsies, one case of Walker-Warburg syndrome, five polyneuropathies associated to leukodystrophy and another 25 cases that could not be classified. Genetic studies provided a diagnosis in 36 cases (29.2%): nine myotonic dystrophies, eight dystrophinopathies, eight cases of spinal muscular atrophy, four demyelinating sensory-motor hereditary neuropathies, two instances of Friedreich's ataxia, two limb-girdle muscular dystrophies, one congenital myasthenia, one McArdle's disease and one case of Kearns-Sayre syndrome., Conclusions: Genetic studies enable us to establish diagnoses that were previously limited to the realm of assumption, and allow us to avoid the need for muscle tissue biopsies, which is a welcome development, especially when dealing with children. Immunohistochemical studies need to be updated and biological samples should be systematically saved in cases where no diagnosis is reached.

Introduction: 10-15% of asymptomatic congenital infections by cytomegalovirus (CMV) in the neonatal period develop persistent problems with varying degrees of severity, fundamentally involving neurological disorders, neurosensory hypoacusis and hypovision, which appear from the age of 6-9 months onwards, when a diagnosis is no longer possible. The PCR (polymerase chain reaction) technique can detect DNA of CMV in blood samples on filter paper used for screening hypothyroidism and metabolic pathologies that were kept from the neonatal period., Case Report: A child aged 3 years and 8 months with delayed intrauterine growth, autism, mental retardation, microcephalus and neurosensory hypoacusis; periventricular calcifications, leukoencephalopathy and bilateral malformation of the temporal lobe; and a diagnosis of congenital CMV confirmed by detection of DNA by PCR in the blood sample on filter paper saved from the neonatal period., Conclusions: The retrospective study of congenital infection by CMV should be considered when faced with severity and varying association of delayed intrauterine growth, microcephalus, neurosensory hypoacusis, chorioretinitis, mental retardation, autism or other behavioural disorders, intracranial calcifications, encephaloclastic alterations, leukoencephalopathy, cortical dysplasia and malformations of the temporal lobe and the hippocampus. Since the filter papers from neonatal screening are not kept for ever, perhaps the idea of doing so ought to be considered, given the possibilities they offer for retrospective studies.

Introduction: Shaken baby syndrome (SBS) is a form of physical abuse that includes the presence of a subdural or subarachnoid haematoma or diffuse cerebral oedema, retinal haemorrhages and, in general, absence of other physical signs of traumatic injury. Osteogenesis imperfecta (OI) is a genetic disorder affecting the synthesis of type I collagen that leads to brittle bones with frequently occurring fractures, with presenting clinical symptoms taking a variety of forms. A differential diagnosis allowing it to be distinguished from physical abuse is known, due to the existence of bone fractures with no known traumatic injuries, but we do not understand the link between OI and SBS., Case Report: We describe the case of an infant who, at the age of 3 months, suffered symptoms of acute encephalopathy with convulsions, subdural haematoma and retinal haemorrhages compatible with SBS, as well as bilateral rib fractures. The skeletal series of X-rays revealed alterations in bone structure and texture, which led to a diagnosis of OI that was confirmed by a study of the collagen in skin fibroblasts., Conclusions: The suspected existence of SBS is unpleasant both for the health care professional and for the patient's relatives. The existence of rib fractures in an obvious case of shaken baby syndrome suggested malicious abuse; however, the parents' attitude and the existence of OI made us think that no harm was intended. Shaking could have been secondary to bouts of crying due to microfissures related to the OI. The differential diagnosis of processes that can be mistaken for shaken baby or from favourable or predisposing medical factors must be taken into consideration.

Introduction: Benign paroxysmal vertigo (BPV) is characterised by the sudden onset of brief recurring episodes of loss of balance, sometimes accompanied by vegetative symptoms, which tend to disappear spontaneously in a matter of months or years and have no intercritical alterations., Patients and Methods: We analyse the clinical and developmental characteristics of the patients who were listed as possible cases of benign paroxysmal vertigo in the database of the Neuropaediatric Unit of the Hospital Miguel Servet in Zaragoza over a 14 year period. Clinical records were reviewed and cases no longer controlled were contacted by telephone., Results: 18 patients were considered to be cases of BPV, with the typical criteria, and 13 were found to be possible BPV (p-BPV). The atypical data of the p-BPV included late age of onset, prolonged persistence of the episodes and long duration of each episode. Neuroimaging was performed in 8 (44%) of the BPV and 10 (77%) of the p-BPV, and electroencephalogram recordings were carried out in 15 (83%) of the BPV and 11 (85%) of the p-BPV, with normal results in all cases., Conclusions: Establishing a diagnosis of BPV with strict criteria can mean that some atypical cases are excluded. As no biological marker is available, the diagnosis is clinical-developmental and sometimes complementary tests need to be conducted in order to rule out other pathological conditions. A broader clinical spectrum, cases in which the episodes last longer and a greater range of ages of onset and complete remission are all possible. A diagnosis of BPV should reassure the patients' families as it is a benign process that tends to disappear spontaneously.

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., Results: Of a total of 7,562 patients surveyed in the period under study, 757 subjects (10%) had epilepsy and there were 49 cases of AE (6.47% of the total number of cases of epilepsy): 29 were females (59.2%) and 20 were males (40.8%). Mean age at the time of the first visit was 7.93 years (ranging between 3 years and 10 months and 13 years and 6 months). The average follow-up time between the first visit and the last time information was updated was 5.3 years (ranging between 10 days and 13 years and 2 months). Only two females, receiving treatment, still have absences. 42 children have been without absences for more than six months, 16 with treatment and 26 without therapy; 21 children have been without absences for over four years and are not under treatment. 12 have problems at school., Conclusions: AE is easy to diagnose and usually responds well to treatment either as monotherapy or, in some cases, in association with two antiepileptic agents. Strict initial control by experts in its management prevents absences from continuing over long periods of time. The psychosocial and learning dysfunctions that are associated in some cases require close attention.

Introduction and Aims: Influenced by medical, scientific and social advances, the changes that have taken place in the needs of the population have given rise to a growing demand for health care in neuropaediatric pathology. The aim of this study was to determine the neuropaediatric health care requirements at the Hospital General Universitario de Guadalajara, a secondary care hospital that is a reference centre for the province of Guadalajara., Patients and Methods: We studied the children up to the age of 10 years with a neurological pathology attended at the Hospital General Universitario de Guadalajara over an 8-year period, since the Neuropaediatric unit was opened on 1 July 1992., Results: In all 1,236 children were evaluated, which represents 8.45% of all the children below the age of 10 in the province of Guadalajara, with an average of 154.5 new patients per year. There was a predominance of males, 56.4%, and a high percentage of very young children: 26.05% under the age of 1 year and 50.56% under the age of 3. There has been a progressive increase in the number of Neuropaediatric outpatients, which in the year 2000 accounted for 20% of first visits and 16% of the total number (first and successive) of Paediatric outpatients. 12.94% of the patients in our series had also been examined in different tertiary care hospitals., Conclusions: There is a very high demand for neuropaediatric care in Guadalajara and it is growing in a significant and progressive manner. We suggest it would be advisable to have a tertiary reference hospital available to help cope with this situation.

Introduction: Foix-Chavany-Marie syndrome, or bilateral anterior opercular syndrome, is characterised by facio-pharyngo-glosso-masticatory diplegia with 'automatic-voluntary dissociation', which consists in the abolition of voluntary movements while involuntary movements and reflexes are preserved. It is produced by bilateral involvement of the anterior or frontal opercular region. In adults it is related to ischemic lesions. In childhood it presents congenitally in perisylvian dysplasias and as an acquired disorder in encephalitis or can be episodic in symptomatic or idiopathic epilepsies such as benign rolandic epilepsy., Case Report: A 13-year-old patient who presented, over five straight days, four episodes of facial dysplegia, anarthria, dysphagia, drooling, paralysis of the upper limbs, while involuntary facial expression was normal and the corneal, cough and gag reflexes were preserved. The first three come to an end spontaneously at 2, 4 and 20 hours, respectively; the fourth episode concluded an hour and a half after onset, following administration of intravenous phenytoin for 5 minutes. Computerised axial tomography and magnetic resonance images of the brain, as well as the interictal electroencephalograms (EEG), were normal. Administration of oxcarbazepine was started but at 8 months was stopped after a normal EEG during nocturnal sleep was obtained. After 15 months, the patient has not presented any more episodes., Conclusions: The paroxysmal character of the disorder together with normal interictal periods, the normality of the neuroimages, and the speedy recovery achieved after the administration of phenytoin support the notion of an epileptic origin. We believe that we are dealing with a bilateral anterior opercular syndrome due to a non-convulsive epileptic state, compatible with the presentation of benign rolandic epilepsy.

Introduction: Rhabdomyolysis is a syndrome characterised by the destruction of muscle fibres which results in the release of toxic intracellular metabolites into the circulatory system. It usually has a benign progression but can have serious, potentially fatal, complications that largely depend on the cause. Disorders affecting the metabolism of energy in muscles can manifest as recurring rhabdomyolysis, which usually has kidney failure as its most common complication., Case Report: An 8 year old girl who had suffered an episode of rhabdomyolysis one year earlier and later died in the Paediatric Intensive Care Unit while suffering from acute symptoms of rhabdomyolysis and refractory shock. A muscular biopsy specimen was collected, but it was not possible to establish a diagnosis from that sample., Conclusions: Even with all today's progress in the biochemical, molecular and genetic fields, the cause of recurring rhabdomyolysis is not easy to identify. What stands out in this case is the fatal progression of a usually benign problem, whose most serious complication is considered to be the delayed production of kidney failure when there is severe decompensation that does not receive adequate treatment. We recommend having guidelines set out for the correct collection, preparation and storage of the biological samples needed for the biochemical, enzymatic, immunohistochemical and DNA studies that can provide a diagnosis when death due unknown causes occurs. We emphasise the fact that it is the doctor's duty and right to exhaust all the diagnostic possibilities available.

Introduction: Episodic disseminated inflammation of the central nervous system (CNS) presents in processes that are difficult to differentiate, such as acute disseminated encephalomyelitis (ADE) and its multiphasic variants, and multiple sclerosis (MS). Magnetic resonance imaging allows these problems to be identified more frequently than in the past., Patients and Methods: We carried out a retrospective study of the cases of episodic disseminated inflammation of the CNS, according to clinical features and compatible neuroimaging, at the Neuropaediatric Unit of the Hospital Infantil Miguel Servet, between May 1990 and August 2003., Results: Of the 6777 children evaluated over this period, 10 met the eligibility criteria, with a minimum age at onset of 2 years and 2 months. In four cases there was a history of an infectious process or vaccination. Clinical involvement was multisymptomatic, the most frequent being ataxia, dysmetry, tremor, drowsiness, paresis and cranial nerve involvement. Six of them had cerebrospinal fluid disorders and only two presented disorders in the fundus oculi. Five of them were given corticoid treatment. Progress was favourable, except in two cases: one due to the persistence of a corticoid dependent optical neuropathy and the other because of dyskinesia in the right hand., Discussion: Diagnosis of ADE is established by signs of multifocal clinical involvement and neuroimaging, and depends on a compatible progression. Prognosis is generally good and corticoids seem to be effective, at least in shortening the time the clinical features last. It is not possible to completely differentiate it from MS, especially in recurring forms. Clinical and magnetic resonance controls must be carried out.

Introduction: Prenatal intracranial anomalies of a cystic nature are mainly either malformations (arachnoid cysts) or disruptive (porencephaly). They are usually incidental findings and, unless they undergo a progressive increase in size and become expansile or offer clinical features, they are usually managed 'expectantly'. Disruptive defects are more frequent in twin pregnancies., Case Report: A one and a half-month-old male patient, fruit of a bichorial twin pregnancy, with bouts of paleness, cyanosis around the mouth and movements of the mouth that initially responded to treatment with valproate. Physical exploration was normal except for a significant increase in the cephalic perimeter. A notable anaemia was observed and neuroimaging revealed a left temporal intraparenchymatous cystic lesion; in addition, magnetic resonance imaging showed alterations in the linear and symmetrical signals in the parasagittal region. At three months the seizures reappeared and the cyst had increased in size, which led to the implantation of a cyst peritoneal shunt. The seizures ceased and the size of the cyst became stable, without full re expansion of the brain tissue., Discussion: It is necessary to carry out a differential diagnosis of an arachnoid cyst and porencephaly. Given the history of being a twin, the notable degree of anaemia at the age of one month and the image suggesting parasagittal cerebral injury (a pattern of hypoxic ischemic encephalopathy in the full term neonate), we think that our patient was suffering from antenatal or perinatal cerebrovascular damage, which conditioned the development of an expansile porencephalic cyst and cortical damage that accounted for the symptoms of epilepsy.

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., Results: In 58 cases (0.92%) out of a total number of 6257 children the visit was due to microcephalus. The mean age at the last visit was 3.9 years. In five children (8.6%) the cephalic perimeter was not below p3. No encephalopathy was found in 20 patients (34.4%) and 38 (65.5%) were seen to have encephalopathy, 37 with a prenatal origin: nine genetic, three disruptive and 22 unspecified. Functional diagnoses were as follows: mental retardation in 29 patients, infantile cerebral palsy in 18, autistic spectrum in four and epilepsy in four. Neuroimaging studies aided diagnosis in 13 cases, i.e. 43.3% of those carried out., Conclusions: Visits to the doctor because of microcephalus, as well as in normal children, include the whole range of prenatal encephalopathies and are associated, ordered according to the frequency of occurrence, with mental retardation and with infantile cerebral palsy. Individual evaluation and clinical progression allow the orientation of each case. Neuroimaging is the most useful complementary examination for diagnostic purposes.

Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations. It is diagnosed by the existence of certain clinical criteria which cannot appear until adulthood., Patients and Methods: The clinical histories of the confirmed or possible cases of neurofibromatosis (NF) in the neuropaediatric databases at the Hospital Miguel Servet in Zaragoza and at the Hospital General in Guadalajara were analysed retrospectively., Results: Cases were distributed in 46 NF1, six compatible with NF1, 11 with just marks, five with marks and a family history of marks, and two cases of segmentary NF. Among the confirmed cases of NF1, the following alterations were found: optic glioma (OG) in eight, and one of them developed a glioblastoma multiforme, multiple radicular neurofibromas in one, mental retardation in one and learning disorders in 13 of the 29 school aged children, afebrile seizures in three, precocious puberty in two and scoliosis in nine. Brain areas with hypersignals were found in 71% of the cases submitted to magnetic resonance imaging (MRI) (20 out of 28), including seven of the eight patients suffering from OG., Discussion: Our case mix, like all the others, exemplifies the clinical heterogeneity and unpredictable progression of children with NF1 or who are suspected of suffering from it. We followed the most widely used method of clinical and ophthalmological control, and complementary examinations were performed according to the clinical features. If neuroimaging is used, it must be MRI.

Introduction: Eosinophil infiltration of skeletal muscle is rare, but often no etiological factor can be identified and these are isolated eosinophilic myositis. They may be associated with parasite infections or drugs, or be features of rare systemic disorders of hypereosinophilia, such as the myalgia eosinophilia syndrome and the idiopathic hypereosinophilic syndrome. The eosinophilic myopathies should be distinguished from the commoner inflammatory myopathies such as polymyositis and dermatomyositis., Clinical Case: A nine year old boy with slight motor clumsiness but normal psychomotor development and neurological findings. Laboratory findings showed slightly raised serum transaminases (SGOT 271, SGPT 157 UI/L), CPK 7517 UI/L and eosinophilia (707/mL). Investigations for myoglobin cysticercosis, trichinosis, hydatidosis and toxicariasis were negative. No parasites were found in the faeces. The gammaglobulins were normal. Anti smooth muscle, antinuclear and anti KLM antibodies were negative. Cardiological studies were normal. His father, mother and two siblings had normal results of laboratory tests. Muscle biopsy showed inflammatory myopathy with abundant eosinophils, no evidence of parasites, no alteration of membrane proteins: dystrophin, sarcoglycan and merosine. Two years later he remains asymptomatic, maintains raised muscle enzyme levels in all tests with figures for CPK between 3,065 and 9,616UI/L, and eosinophilia ranging between 634 and 1,026/mL. Corticosteroid treatment was tried but no response obtained., Conclusion: We consider this to be a case of eosinophilic polymyositis which gives rise to many questions regarding etiopathogenesis, management and prognosis.

Introduction and Objectives: Advances in genetics, techniques for diagnosis and treatment, and increasing concern for the quality of life and neuropsychological aspects of epileptic children and the possible repercussions of treatment lead to changes in the approach to epilepsy and require continual adaptation. In this study we analysed a series of cases of idiopathic and cryptogenic epilepsy attended by the Neuropaediatric Department of the Hospital Miguel Servet in Zaragoza (Spain)., Patients and Methods: We studied the cases diagnosed as having idiopathic or cryptogenic epilepsy between May 1990 and December 1999., Results: We assessed 4,507 children. In 1,794 (39.8%) consultation was for a paroxystic disorder. Epilepsy was diagnosed in 466 children (10.3%) and 103 cases were considered possibly or probably epilepsy but the diagnosis remains in doubt (2.3%). In 111 cases (23.8%) the epilepsy was considered idiopathic, in 122 (26.2%) cryptogenic and in 233 cases (50%) symptomatic. The following epileptic syndromes were identified: epilepsy-absence attacks in 28 cases (6%), benign myoclonic infantile epilepsy in 4 cases, other idiopathic generalized epilepsies in 61 cases (13%), benign Rolandic epilepsy in 18 cases (3.9%), 2 cases of cryptogenic Ohtahara syndrome, 6 cases of cryptogenic West syndrome, 1 severe case of infantile myoclonic epilepsy, 1 case of continuous wave epilepsy during slow eye movement sleep and 1 case of Landau-Kleffner syndrome., Conclusion: Current requirements and the rate of advances in epilepsy make it essential for neuropaediatric teams to include experts in epilepsy.

Introduction: Varicella in childhood is a self-limiting disease which usually follows a benign course. However, a considerable number of complications occur, particularly involving the nervous system. On rare occasions hemiparesis has been reported following an ischemic cerebrovascular accident related to varicella., Clinical Case: We report the case of a 4 year old boy who presented with right hemiparesis eight days after the onset of varicella. CAT and MR showed a cerebral infarct involving the left caudate nucleus, putamen and internal capsule. Other possible causes of cerebral infarct were ruled out. Four years later he had slight residual right hemiparesis. The pathogenesis may have been due to vasculitis of the intracranial arteries caused by direct invasion of the vessels by virus from the nearby nerve tissue. Another theory suggest similarities with moyamoya disease, suggesting that lesions of the head and neck stimulate the superior cervical ganglion and this, together with the production of circulating immuno-complexes may be the cause of the vasculopathy of the intracranial blood vessels., Conclusions: In most cases of cerebrovascular accidents occurring in childhood the cause is unknown. However, it is important to discover the cause since the risk of recurrence often depends on the primary disease. Once other commoner causes have been excluded, one should ask whether there is a history of varicella, since the prognosis is generally good and recurrence uncommon.

Introduction: McArdle's disease is a disorder of muscle energy metabolism caused by a deficit of muscle phosphorylase. The typical form presents with fatigability muscle cramps and pains triggered by physical exercise. Some cases have few symptoms. We report the case of a 14 year old girl diagnosed on finding a significantly raised CPK, studied following her complaint of fatigability., Clinical Case: A 14 year old girl presented with a CPK of 1,243 UI/l (normal 10-32) which had been requested in view of her fatigability. She had never had cramps, muscle pains or dark urine. Neurological examination was normal. The levels of CPK after intense exercise on the previous days were 7,459 UI/l, and after rest for one week were 283 UI/l (normal 25-230). The ischemic exercise test showed that she was unable to finish the test, with flat lactate and pyruvate curves and markedly raised ammonia (basal 89 and maximum 571 micrograms/dl). On muscle biopsy, the morphology of the striated muscle was seen to be normal and staining for myophosphorylase was negative., Conclusions: The fluctuations of muscle enzyme levels in relation to exercise orientate the diagnosis towards a disorder of muscle energy metabolism. To detect this, the investigation should be carried out following severe exercise for several days and then compared with a further test after some days of rest. The ischemic exercise test permits identification of defects of glycogenolysis, orientating the choice of suitable histochemical, enzymatic or molecular biological tests.

Introduction: Hemimegalencephaly is a disorder of neurone proliferation and migration, associated with excessive growth of all or part of one cerebral hemisphere, and variable degrees of pachygyria, polymicrogyria, neuronal heterotopy and gliosis of white matter. It is considered to be a rare malformation with severe encephalopathy, epilepsy resistant to treatment started early, contralateral hemiparesia and severe retardation of development. However, there may also be milder forms. The syndrome of pathological left handedness is associated with disorders of language, visuo-spatial changes and weakness and hypertrophy of the right limbs, with no family history of left handedness. It occurs in lesions predominantly of the left hemisphere which have occurred in the first six years of life., Clinical Case: A 12 year old girl presented with a syndrome of pathological left-handedness and craniofacial asymmetry of the left hemisphere. MR showed the left ventricle and hemisphere to be of increased size and with focal hyperintensity in the white matter, and at the level of the left parietotemporoccipital region there was a thick cortex with little interdigitation of white and grey matter., Conclusions: Minor forms of hemimegalencephaly are probably more frequent than is generally believed. A high index of suspicion is necessary to identify them. They should be considered in cases of left handedness, craniofacial or bodily asymmetry, cutaneous hamartomas, persistent electroencephalographic asymmetry and asymmetry on neuroimaging with an enlarged ventricle and homolateral hemisphere. Study of this may give information which is useful for understanding plasticity and mechanisms of recovery and functional compensation of immature nerve tissue.

Introduction: Complementary tests orientated by the clinical findings and correctly interpreted, are useful in some cases in order to exclude certain pathologies and on other occasions to help to orientate towards or to confirm diagnoses. Material and methods. In this paper we analyze the complementary tests most often used in children evaluated during a five year period, from May 1990 to May 1995, by a neuropaediatrician who recently joined the staff of the Hospital Miquel Servet in Zaragoza (which had no neuropaediatrician before then)., Results and Conclusions: Neuroimaging is the technique which was most often useful in establishing the diagnosis. CT or MR orientated or established the diagnosis in 21% of the total number of children evaluated and in 39% of the children in whom this investigation was carried out. The EEG contributed to the diagnosis of epilepsy in 11% of the children. In 16% of the cases of epilepsy the EEG was normal or with nonspecific changes and diagnosis was made on clinical grounds alone. Biochemical tests enabled some pathologies to be ruled out, but contributed to diagnosis on few occasions, most frequently the CSF (basically in meningitis and encephalitis) and muscle enzyme tests were also useful. Routinely used investigations such as those involving amino acids, ammonia, lactate and pyruvate established the diagnosis in a smaller proportion of cases than those used more selectively. Genetics were not found to be very useful in diagnosis. Reallocation of resources is necessary to permit the population as a whole to benefit from the continuous advances being made in techniques of direct study of molecular genetics.

Introduction and Objectives: In order to determine the requirements for neuropaediatric attention in the Hospital Miguel Servet of Zaragoza, we studied the diagnoses of the 2,046 children evaluated during the 5 year period-May 1990 to May 1995-, when a neuropediatrician was appointed to the hospital (which previously did not have such a specialist)., Results: The most frequent problems were non-epileptic paroxystic disorders, epilepsies and febrile crises. The following is a list in descending order, of diseases affecting these children: Prenatal encephalopathies, disorders of development and behaviour, head injury (TCE), peripheral nervous system and cranial nerve disorders (which were neither traumatic nor secondary to space-occupying lesions), headaches, perinatal encephalopathies, infections and para-infectious diseases of the nervous system, cardiovascular problems, hydrocephalus, metabolic disorders, hypovision and eye disorders, neuromuscular disorders, tumours, dyskinesias, medulla problems and neurocutaneous syndromes., Conclusions: The frequency and diversity of the neurological pathology seen in childhood and the continual advances in knowledge and the related sciences are more than a single professional person can be expected to cope with. Experts are required in areas such as electroencephalography and epilepsy, neonatal neurology, the neurological aspects of intensive care, neuropsychology, neuro-oncology, neurometabolic disorders, neurogenetics and neuromuscular disorders. Neuropediatricians are required to control illnesses with great personal, family and social impact, such as the neurocutaneous syndromes and myelomeningocoele. Neuropaediatric services working in close inter-disciplinary collaboration with other specialists are necessary.

Introduction and Objective: Diagnosis in neuropediatrics requires a detailed personal and family history and thorough physical examination. In this paper we study the psychomotor development and physical examination of children evaluated during a 5 year period, from May 1990 to May 1995 by a neuropediatrician newly appointed to the Hospital Miguel Servet in Zaragoza, which previously did not have such a specialist., Results: Psychomotor retardation was seen in 19% of the children. In 50% of the children evaluated, significant data was obtained from the physical examination. The commonest finding, observed in 14% of the children, was of anomalous behaviour or an impression of mental deficiency. In decreasing order of frequency other data were: Diffuse pyramidal involvement, cranial nerve involvement, anomalous phenotype, microcephaly, microsomy, signs of neuromuscular involvement, hemiparesia, macrocephaly, skin markings, scoliosis, signs of extrapyramidal involvement, signs of cerebellar involvement, macrosomy and sensory disorders., Conclusions: Diagnosis in neuropediatrics is directed or established, sometimes exclusively, by an extensive personal and family history and adequate interpretation of this, which in the end depends on the skill of the clinician.

Introduction and Objective: The ambit of the work of each medical specialty is determined initially by the consultations it receives. Study of this will contribute to discovering the needs of the population, to establishing diagnostic strategies in the commonest clinical conditions and to the design of the healthcare organization necessary to fulfil these needs. Material and methods. We reviewed the reasons for consultations for neurological problems in 2,046 children evaluated during a 5 year period, between May 1990 and May 1995 in the Hospital Miguel Servet in Zaragoza, which did not previously have such a specialist., Results and Conclusions: The commonest reason for consultation was paroxystic disorders, which led to 33% of the consultations and affected 40% of the children seen. Other common causes of consultation, in decreasing order of frequency were: psychomotor retardation, head injury, perinatal distress, headache, disorders of movement, morphological changes, disorders of oculomotricity, visual disorders and acute encephalopathy.

Introduction and Objective: The need for healthcare in neuropediatric pathology has always existed. It increases with changes in the needs of the population determined by medical scientific and social advances. These needs, together with the frequency and diversity of the neurological pathology of infancy justify the existence of neuropediatricians and neuropediatric services in regional reference hospitals. To organize a regional neuropediatric service, it is first necessary to know the real needs of the population. The objective of this study was to determine the need for neuropediatric care in the Pediatric Department of the Hospital Miguel Servet in Zaragoza, the regional reference centre for Aragón, La Rioja and Soria., Material and Methods: We studied the work carried out over 5 years by a neuropediatrician, newly arrived in a department which did not formerly have such a specialist, principally evaluating diagnostic work. In this first part we describe the material and methods used and the general results obtained., Results: We analyzed the children studied during a 5 year period (May 1990 to May 1995). We evaluated 1,294 children seen in the Outpatient department and 752 during hospital admission (not followed up in Outpatients). This gave an annual average of 409 new patients in neuropediatrics., Conclusions: There is a great demand for neuropediatric attention. Its importance is due to the great frequency, diversity and the complexity of many of these conditions.