Search

In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated with torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with AMC5-TOR1A have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has not been conducted. Here, we assess the clinical, radiological and molecular characteristics of 57 individuals from 40 families with biallelic variants in TOR1A. Median age at last follow-up was 3 years (0-24 years). Most individuals presented with severe congenital flexion contractures (95%) and variable developmental delay (79%). Motor symptoms were reported in 79% and included lower limb spasticity and pyramidal signs, as well as gait disturbances. Facial dysmorphism was an integral part of the phenotype, with key features being a broad/full nasal tip, narrowing of the forehead and full cheeks. Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual disability, absent speech and inability to walk. In a subset, the presentation was consistent with foetal akinesia deformation sequence with severe intrauterine abnormalities. Survival was 71%, with higher mortality in males. Death occurred at a median age of 1.2 months (1 week-9 years), due to respiratory failure, cardiac arrest or sepsis. Analysis of brain MRI studies identified non-specific neuroimaging features, including a hypoplastic corpus callosum (72%), foci of signal abnormality in the subcortical and periventricular white matter (55%), diffuse white matter volume loss (45%), mega cisterna magna (36%) and arachnoid cysts (27%). The molecular spectrum included 22 distinct variants, defining a mutational hotspot in the C-terminal domain of the Torsin-1A protein. Genotype-phenotype analysis revealed an association of missense variants in the 3-helix bundle domain to an attenuated phenotype, while missense variants near the Walker A/B motif as well as biallelic truncating variants were linked to early death. In summary, this systematic cross-sectional analysis of a large cohort of individuals with biallelic TOR1A variants across a wide age-range delineates the clinical and genetic spectrum of TOR1A-related autosomal-recessive disease and highlights potential predictors for disease severity and survival., (© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain.)

The development of acute neurologic dysfunction associated with tumefactive demyelinating lesions and mild diffuse involvement of the corpus callosum has been described in children as a sentinel event that may allow diagnosis of juvenile metachromatic leukodystrophy (MLD) at an early and potentially treatable stage. We report a child who developed this clinico-radiologic pattern associated with myelin oligodendrocyte glycoprotein antibodies several months before the onset of progressive symptoms of late infantile MLD., (© 2022 American Academy of Neurology.)

Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated cases compatible with abnormal brain iron deposits are known. The patients were evaluated using standardised clinical assessments of ataxia and MDs. First, NBIA genes were analysed by Sanger sequencing and 59 patients achieved a diagnosis, including the detection of the founder mutation PANK2 p.T528M in Romani people. Then, we used a custom panel MovDisord and/or exome sequencing; 29 cases were solved with a great genetic heterogeneity (34 different mutations in 23 genes). Three patients presented brain iron deposits with Fe-sensitive MRI sequences and mutations in FBXO7 , GLB1 , and KIF1A , suggesting an NBIA-like phenotype. Eleven patients showed very early-onset ataxia and CA with cortical hyperintensities caused by mutations in ITPR1 , KIF1A , SPTBN2 , PLA2G6 , PMPCA, and PRDX3 . The novel variants were investigated by structural modelling, luciferase analysis, transcript/minigenes studies, or immunofluorescence assays. Our findings expand the phenotypes and the genetics of MDs and ataxias with early-onset CA and cortical hyperintensities and highlight that the abnormal brain iron accumulation or early cerebellar gliosis may resembling an NBIA phenotype.

Background and Objectives: To investigate whether children receiving immunosuppressive therapies for neuroimmunologic disorders had (1) increased susceptibility to SARS-CoV2 infection or to develop more severe forms of COVID-19; (2) increased relapses or autoimmune complications if infected; and (3) changes in health care delivery during the pandemic., Methods: Patients with and without immunosuppressive treatment were recruited to participate in a retrospective survey evaluating the period from March 14, 2020, to March 30, 2021. Demographics, clinical features, type of immunosuppressive treatment, suspected or confirmed COVID-19 in the patients or cohabitants, and changes in care delivery were recorded., Results: One hundred fifty-three children were included: 84 (55%) female, median age 13 years (interquartile range [8-16] years), 79 (52%) on immunosuppressive treatment. COVID-19 was suspected or confirmed in 17 (11%) (all mild), with a frequency similar in patients with and without immunosuppressive treatment (11/79 [14%] vs 6/74 [8%], p = 0.3085). The frequency of neurologic relapses was similar in patients with (18%) and without (21%) COVID-19. Factors associated with COVID-19 included having cohabitants with COVID-19 ( p < 0.001) and lower blood levels of vitamin D ( p = 0.039). Return to face-to-face schooling or mask type did not influence the risk of infection, although 43(28%) children had contact with a classmate with COVID-19. Clinic visits changed from face to face to remote for 120 (79%) patients; 110 (92%) were satisfied with the change., Discussion: In this cohort of children with neuroimmunologic disorders, the frequency of COVID-19 was low and not affected by immunosuppressive therapies. The main risk factors for developing COVID-19 were having cohabitants with COVID-19 and low vitamin D levels., (Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)

The EARS2 nuclear gene encodes mitochondrial glutamyl-tRNA synthetase, a member of the class I family of aminoacyl-tRNA synthetases (aaRSs) that plays a crucial role in mitochondrial protein biosynthesis by catalyzing the charging of glutamate to mitochondrial tRNA(Glu). Pathogenic EARS2 variants have been associated with a rare mitochondrial disorder known as leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL). The targeted sequencing of 150 nuclear genes encoding respiratory chain complex subunits and proteins implicated in the oxidative phosphorylation (OXPHOS) function was performed. The oxygen consumption rate (OCR), and the extracellular acidification rate (ECAR), were measured. The enzymatic activities of Complexes I-V were analyzed spectrophotometrically. We describe a patient carrying two heterozygous EARS2 variants, c.376C>T (p.Gln126*) and c.670G>A (p.Gly224Ser), with infantile-onset disease and a severe clinical presentation. We demonstrate a clear defect in mitochondrial function in the patient's fibroblasts, suggesting the molecular mechanism underlying the pathogenicity of these EARS2 variants. Experimental validation using patient-derived fibroblasts allowed an accurate characterization of the disease-causing variants, and by comparing our patient's clinical presentation with that of previously reported cases, new clinical and radiological features of LTBL were identified, expanding the clinical spectrum of this disease.

To date, few cases of 3p proximal interstitial deletions have been reported and the phenotype and genotype correlation is not well understood. Here, we report a new case of a 3p proximal interstitial deletion. The patient is an 11-year-old female with speech and social interaction difficulties, learning disability, and slight facial dysmorphism, but no other major malformations. An 8 Mb de novo interstitial deletion at 3p14.2-p14.1, from position 60.461.316 to 68.515.453, was revealed by means of array comparative genomic hybridization and confirmed using quantitative reverse-transcription polymerase chain reaction assays. This region includes six genes: FEZF2, CADPS, SYNPR, ATXN7, PRICKLE, and MAGI1, that are known to have a role in neurodevelopment. These genes are located on the proximal side of the deletion. We compare our case with previously well-defined patients reported in the literature and databases.

Objectives: To analyze the height and width of the ridge at the level of the premaxilla in edentulous patients, evaluating whether the sex of the patient, type of prosthetic rehabilitation and antagonist have an influence., Material and Method: We randomly selected a total of 89 patients, having an average age of 66.21 years old. A total of 308 measurements were made, all of them at the level of the premaxilla, in the intercanine area. As dependent variables, we analyzed the patients' sex, age and the antagonist: removable (dental) prostheses (RP), fixed (dental) prostheses (FD), natural dentition (ND). As independent variables, we measured the height and residual width in sagittal sections provided by tomographic studies using Dentascan®., Results: We observed a significantly smaller ridge in women versus in men, and in patients whose antagonist was a fixed prosthesis; whereas for the type of prosthesis, we did not observe significant differences between the two categories analyzed., Conclusions: Bone resorption at the level of the premaxilla is a variable process in which a smaller size is observed (height and width) in women and when the antagonist is a fixed prosthesis.

Objective: To determine the optimum surgical treatment for oral antral communications (OAC) and to understand the main post-operative complications., Study Design: Meta-analytical, observational and retrospective study of 1.072 cases of OAC obtained from a literature review of 15 articles., Results: OAC occur slightly more often in men and during the fourth decade of life. Its primary etiological factor is dental extraction, most often affecting the third molar. The most common treatment has been the use of Bichat's fat pad grafts, whereas the technique with the highest percentage of complications has been the use of the palatal rotation flap. The most frequent complication has been the fistulization of the OAC., Conclusions: Early diagnosis of OAC and its treatment within 48 hours of evolution are fundamental in order to properly resolve this pathology. The use of Bichat's fat pad grafts is a simple technique that offers excellent vascularization and results.

Inborn errors of metabolism (IEM) can have their onset in adolescence or in adulthood. Although it is difficult to contribute exact data on prevalence -because there are few studies in this respect, and IEM are regarded as infrequent- their detection is important due to the possibilities for therapy and family genetic counselling. The main symptoms of IEM in the adult are neurological, followed by hepatic. Two basic modes of onset can be established. One is acute, normally taking the form of consciousness alteration, lethargy, coma of unknown etiology in a previously healthy patient (urea cycle deficits, homocysteine remethylation disorders and porphyries are the most frequent causes). The other is an insidious, often progressive, chronic symptomathology that can involve complex clinical features, and more rarely a symptom that is isolated in a persistent way (Wilson's disease, mitochondrial diseases, lysosomal storage disorders, Refsum's disease and glycogenosis are some examples of this group). It is especially important to determine the forms of acute onset as these can present situations of extreme emergency where appropriate conduct can prevent the death of the patient. In this case, simple laboratory examinations, such as determination of ammonia, homocysteine, lactate, acylcarnitines, amino acids, organic and porfirines, can guide the diagnosis and enable the start of intensive treatment. This article provides a practical approach that deals with the general characteristics and the clinical keys for suspecting the most usual IEMs in the adult.

Herpes simplex encephalitis is the most common form of sporadic viral encephalitis. It may occur at any age, giving rise to a syndrome with a high morbidity and mortality. Its presentation may be atypical, and the initial complementary investigations nonspecific, making early diagnosis difficult and thus worsening its prognosis. This report describes four infants with herpes encephalitis presenting with an opercular syndrome that left significant sequelae after the acute episode. The opercular syndrome is characterized clinically by a disturbance of voluntary control of the facio-linguo-glosso-pharyngeal muscles, affecting speech and swallowing. Recognition of the opercular syndrome as a form of presentation of herpes encephalitis enables early diagnosis to be made in these patients, with the rapid initiation of treatment with acyclovir, improving the clinical course.

Introduction: Acute childhood ataxia is a cause of referency to the pediatric emergency room. AIM. To characterize the etiology, clinical picture, management, and outcome of acute ataxia in our hospital., Patients and Methods: A prospective study was undertaken including 39 children with acute ataxia who were admitted between January 1, 2001 and December 31, 2003., Results: During the study period 159,002 episodes were evaluated, 39 children (0.024%) with acute ataxia. The most common diagnoses were post-infectious ataxia (51.2%) and toxic exposure (25.6%). The mean age at presentation in post-infectious ataxia was 55 +/- 27.61 months, 60% females. A prodromal febrile illness was noted in 95%: varicella (10), nonspecific viral infection (6), mycoplasma, enterovirus, and Epstein-Barr virus. The latency from the prodromal illness to the onset of ataxia was 5.86 +/- 3.78 days. Lumbar punctures were altered in 11/17. All computed tomography scans performed were normal. At follow up, one boy presented asymmetric signs of cerebellar dysfunction secondary to hemicerebellitis. The media of the patient who showed full-gait recovery was 18 days, and was complete in all children, except one boy who presented hemophagocytic lymphohistiocytosis. Toxic ingestion was the second most common cause. Boys less than 6 years were more commonly affected., Conclusions: Acute childhood ataxia are an uncommon cause of presentation to our pediatric emergency room. Postinfectious ataxia and drug ingestion are the most common diagnosis, with a usually benign and self-limited process. A thorough history and neurology examination should be guided to etiology. Neuroimaging studies and hospitalization are needed only if atypical presentation, asymmetric neurologic examination and prolonged ataxia.

Introduction: Gait apraxia is not used to be considered as a diagnostic entity in Pediatric Neurology., Case Reports: We present two pediatric patients that, after to have acquired normal gait and in consequence of a acute process, they lost the capacity to walk. In spite of intensive rehabilitation treatment hold along various years, they had not been able to help them. Both injury were very dissimilar; in one of them was affected the precentral and paracentral cortex in consequence of an encephalitic process. In the other, the basal ganglia and the hippocampus after a situation of near-drowning at the age of 15 months., Conclusion: The mechanism of this disorder is discussed and emphasis is done in its badly long-term prognosis.

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. MRI, initially normal, was followed by a progressive cerebral and cerebellar atrophy and the boy survived with heavy neurological secuelae.

In infants under 6 months of age, paracetamol overdose is usually due to dose confusion by caretakers. Recently, liquid formulations of this drug have been commercialized in larger,60-ml bottles. The syringe to measure the syrup in these new formulations is also bigger (5 cc versus 1.2-2 cc). We present six cases of 2-4-month-old infants mistakenly given an overdose of paracetamol, each from this new 60-ml formulation. These patients are especially susceptible to poisoning because of liver immaturity and require more aggressive management. To prevent this kind of poisoning, correct and clear information must be given to caregivers about drug dosage.

Introduction: Tourette syndrome shows a fluctuating evolution, often masked by its comorbidity., Objective: To study the clinical factors predicting the initial remission of tics in children with Tourette syndrome. Patients and methods. All patients attended during the last 5 years at a Child Neurology hospital based out patient clinic, with the diagnosis of Tourette syndrome according to DSM IV criteria, were selected., Outcome Measure: total remission of tics during at least 3 months, evaluated during the patient s second visit to our clinic. Demographic, clinic and therapeutic variables were studied. Statistical analysis was based on the Student t test or non parametric tests, as necessary., Results: 53 patients, 44 males and 9 females. Age at starting tics: 6.9 2.2 years, time of evolution: 2 years (range: 1 9.4). Comorbidity in 51%: 34% with attention deficit hyperactivity disorder (ADHD), 17% with obsessive compulsive disorder (OCD) and school underachievement: 26%. Familial antecedents of tics, OCD, or ADHD: 49%. Tics remission at second visit to our clinic: 41.5%. Patients without remission were those with an earlier onset of tics (p=0.085), longer time of evolution (p< 0.05), or school underachievement (p= 0.024). Remission was not statistically associated with treatment. OCD and ADHD were associated with school failure but were not related to the tics evolution., Conclusion: The short term (at second visit), temporal (minimum 3 months) total remission of Tourette syndrome was not related to treatment but to previous duration of the syndrome and to factors (other than OCD and ADHD) that lead to school failure.

Introduction: Performing amniocentesis between the fourth and sixth months of gestation is a widespread practice. However, it can entail serious consequences, apart from the loss of the foetus, such as injuries to the developing central nervous system., Case Reports: Over the past few years we have dealt with four patients who were carriers of a focal disturbance of neuroblast migration, which could have its origins in amniocentesis. Two patients displayed mental retardation and difficult to treat epilepsy, while the other two only presented hemiparesis. In two cases the right hemisphere of the brain was affected. One of them also presented extracranial brain tissue, which was possibly extruded during the accidental puncture of the skull., Conclusions: Despite its being rarely mentioned in the literature, a direct or indirect attack on the brain during diagnostic amniocentesis is a possibility that must be borne in mind when considering the use of this technique

Introduction: The new antiepileptic drugs should also be evaluated outside clinical trials., Objective: To study the efficacy of treatment with lamotrigine in everyday neuropaediatric clinical practice., Patients and Methods: We made a longitudinal study of all patients treated with lamotrigine in a hospital outpatients department. The efficacy was evaluated by: 1. The number of patients showing partial response (>/=50% reduction in seizures as compared to the basal rate), and total response maintained throughout the follow up period. 2. Duration of treatment, studied using the Kaplan Meier method., Results: 80 patients treated with LTG had as the aetiology of their seizures: idiopathic 3.7%, cryptogenic (51.3%) and symptomatic (45%). We found there to be partial control during the first three months of treatment in 60.8% of the patients, which was maintained after 12 months in 43.1%, and after three years in 30.7%. Total control of the seizures after three months was found in 14.8%, after twelve months in 9.8% and after three years in 3.8%. The probability of treatment with lamotrigine being maintained for six months was 86%, for twelve months 61% and for three years 31%. Lamotrigine was suspended in 38 patients (47.5%). Side effects were reported in five cases., Conclusions: In clinical practice, the therapeutic effect not only consists of the percentage of patients who respond to treatment, but also the length of time this response is maintained. In our study, both measurements of effect showed results similar to those with classical antiepileptic drugs.

Introduction: The variable proportion of cases with childhood epilepsy resistant to treatment, has led to the development of different new drugs., Objective: To study the efficacy of topiramate as add-on therapy in the everyday practice of a neuropaediatric clinic., Patients and Methods: A retrospective study of all the patients treated with topiramate in a hospital outpatient clinic was performed., Outcome Measurement: 1. Reduction in >/= 50% as compared to basal frequency (partial control) and total control of seizures, and 2. Duration of drug treatment, using the Kaplan-Meier method., Results: We studied 31 courses of treatment in 29 children. The aetiology of the epileptic syndromes was: idiopathic epilepsy (3.3%), cryptogenic epilepsy (58%) and symptomatic epilepsy (38.7%). We found a >/= 50% reduction in the basal monthly frequency of seizures after 3 months of treatment in 52% of the patients, which persisted 18 months later in 25%. Total control of seizures was obtained in 18.5% of the patients after 3 months of treatment, and this response was maintained 12 months later in 12.5%. The probability of maintaining treatment with topiramate for 6 months was 80%, and for 12 months was 49%. The average duration of treatment was 7.9 months (interval 1-29 months). Topiramate was suspended in 9 patients (29%)., Conclusion: In difficult to treat childhood epilepsy topiramate as add-on therapy provides a partial and total responses which are similar to those reported with classical drugs, and depend on the duration of follow-up.

Aim: Review of hereditary spherocytosis diagnosed in infants younger than two months and their follow up., Patients and Methods: Retrospective study of 18 infants younger than two months diagnosed from 1973 to 1995., Results: Diagnosis was established in the first week of life in 50% of the patients. Hereditary pattern was autosomic dominant in 94% of the cases. Anaemia was observed in all the patients and hyperbilirubinemia in only 44%, although the latter was the clinical presentation in patients diagnosed at younger age. Exchange transfusion was performed in 3 children (1 with the severe form and 2 with the typical form of the disease). During the first 6 months of age, 55% of infants presented hemolytic crises that required transfusion in 91% of them. Both periodicity of crises and transfusions decreased to 38 and 44% respectively after the first year. Splenectomy was performed in the 3 children with severe forms and in 6 with typical forms (mean age 8 years and 3 months). No cholecystectomy was required so far., Conclusions: The authors believe that neonatal spherocytosis does not implicate worse prognosis at follow up. Blood support is higher during the first year of life. Elective splenectomy depends on age and transfusional requirements.

Introduction: In our country, studies on the neuropediatric practice are scarce, in spite of their importance for planning of spending and resources, and definition of quality criteria., Objective: To study the clinical workload of the main neuropediatric clinical problems., Methods: Prospective, longitudinal, descriptive study of doctor-patient encounters, according to diagnosis, in the Child Neurology Division of a tertiaty hospital., Results: 3,200 visits, of which 83% were ambulatory. 24 ambulatory visits per 1,000 inhabitants younger than 15 years, and year. Diagnosis demanding larger clinical activity for out-patients were: epilepsy/seizures (38%), mental retardation (17%), headaches (17%), hyperactivity/conduct disorders (12%), and cerebral palsy/permanent motor sequela (10%). Among in-patients: epilepsy/seizures (47%), mental retardation (10%), brain tumors/neurological complications of oncology disorders (8%), cerebral palsy/motor sequela (8%), and neurological complications of prematurity (7%). Among new out-patients, headaches is the most frequent diagnosis, followed by epilepsy; among new in-patients, epilepsy holds the first place, followed by neurological complications of prematurity and brain trauma. The index follow-up/first visit is much larger for the real neurologic patient than for functional disorders so frequent among new referrals., Conclusions: The neuropediatric practice comprises essentially epilepsy, cognitive and conduct disorders, and headaches. Unfortunately, our practice is in part being defined by the pressure exerted by the primary medical care and by hospital management practices.

Introduction: The workload of telephone consultations has been scarcely studied except at the Emergency Units, in spite of the considerable amount of time consumed by the task in normal practice., Objective: To asses the workload of telephone consultations in a Neuropediatric Unit, during normal working hours., Methods: A prospective analysis of all calls received during a year, at the out-patient hospital-based neuropediatric clinic., Results: 150-200 telephone consultations were received every month, decreasing during the holiday seasons. They amount to two thirds of the face-to-face contacts at the clinic, during the same period of time, and require about 10% of our day-time working hours. Disorders more likely to produce the calls: epilepsy (40%), mental retardation (19%), cerebral palsy (11%), all others with a frequency lower than 5%. These percentages, and those of hydrocephalus, autism and spina bifida, are similar to those encountered in normal practice, while headaches, speech delay, hyperactivity, syncopes, etc. produced half the number of calls expected; myopathies doubled the number of calls expected. The monthly frequency of calls varied significatively, along the year, for epilepsy, mental retardation, hyperactivity, migraine and autism. Calls were made especially by the family (49%), but it depends of the purpose and the patient's diagnosis. The purpose was most frequently to consult about the symptomatology of the illness; treatments produced 7% of calls; and discussion about citations, 19.5%, regardless of the diagnosis., Conclusion: In neuropediatric practice, telephone consultations should be recognized and provided for in order to manage effectively the clinical demand.

Objective: The influence of the type and extent of debridement on survival of patients with Fournier's gangrene and the efficacy of reconstruction with grafts and residual skin are analyzed., Methods: The study comprised 43 patients; 35 Fournier's gangrene, 7 trauma and one tumor. The patients with gangrene were treated by debridement, drainage, amputation and antibiotics. Cutaneous grafts and residual skin were used to repair the defect in a second stage procedure. No testicular avulsion was found in the trauma cases. The penile and scrotal injuries were sutured. One burial and one local flap were performed in two penoscrotal avulsions. Skin from the penis was used to repair partial scrotal defects and grafts were applied on the penis., Results: Mortality (21%) was high in partially debrided Fournier's gangrene, penis amputation and in cases undergoing only drainage. Skin grafts for total loss of penoscrotal cover and penile skin flaps for partial scrotal defects achieved good results. Tension suture was unfavorable in the penis, but was well-tolerated in the scrotum. Burial and local skin flaps were not good solutions. Poor results were obtained by conserving residual skin and grafting only the defect., Conclusions: Early, wide and repeated debridement procedures reduced the mortality in patients with gangrene, and the best results of reconstruction were obtained with split-thickness skin grafts for total loss of penoscrotal cover and penile skin flaps for partial defects of the scrotum.

Introduction: Experimental conditions are not mirrored by clinical practice., Objective: To study the efficacy of vigabatrin in the usual conditions of everyday clinical practice., Patients and Methods: Retrospective review of all epileptic patients treated with vigabatrin in a neuropediatric outpatient clinic., Outcome Measures: a) Persistent seizure frequency reduction > or = 50%, and total control of seizures. Potential predictors of response were studied by logistic regression. b) Duration of VGB therapy, studied by the Kaplan-Meier method and its associated log-rank test., Results: 113 patients with: partial symptomatic epilepsy (38%), partial cryptogenic (25.6%), partial idiopathic (6%), West syndrome (14%), Lennox-Gastaut syndrome (6%), other syndromes (9.7%). Reduction of seizure frequency was attained by 60% of patients at 3 months, sustained during 12 months by 40%, and during 5 years by 14%. Total control of seizures was present in 33% of patients at 3 months, persisted 12 months in 18% and 5 years in 2%. Independent predictors of a poor outcome were generalized seizures (except infantile spasms) and cerebral palsy, among others. The probability of continuing vigabatrin (VGB) therapy was 78% at 6 months, 55% at 2 years and 32% at 5 years. Duration of therapy was modified by early therapeutic response and antecedent of status epilepticus, among others. Adverse events were recorded in 18.5%. Visual fields were not studied in these series., Conclusions: For the time being, VGB-treated patients belong to the difficult-to-treat group. Percentages of responders depend upon duration of follow-up.

Objective: The objective of this study was to assess the clinical features that might reliably identify the presence of an intracranial injury., Patients and Methods: A prospective study of 1,128 children with head injury over a one year period was carried out. Information regarding each patient was documented, including demographic data, physical examination findings, neurologic status, diagnostic studies and the patient's outcome., Results: Of the 1.128 patients, traumatic intracranial abnormalities identified on CT of the head was found in 11 (1%). Four patients of this group (36%) required surgery. Two children subsequently died. Loss of consciousness, amnesia. Glasgow Coma Scale less than 15 and focal neurological deficits were significantly more common in the group with intacranial injury. The negative predictive values were high for all features., Conclusions: Patients with symptoms of head injury should undergo head CT because a small number will require surgery. After a minor head trauma, children who are neurologically normal and without symptoms may be discharged from the emergency department and sent home after careful physical examination alone.