[The impact of congenital heart disease on neurodevelopment].

It is estimated that about 1 in 100 live births has a congenital heart disease (CHD). Cognitive deficit, academic difficulties, and behavioral abnormalities, in combination, represent the most common morbidity affecting quality of life in survivors with CHD. Developmental dysfunction results from a complex interaction between patient-specific factors such as genetic susceptibility, cardiac diagnosis, fetal development, and environmental factors such as preoperative events, supportive techniques during surgical repair, postoperative events, socioeconomic status.

The diagnostic workup of children with the radiologically isolated syndrome differs by age and by sex.

Background: Cerebrospinal fluid (CSF) and spinal MRIs are often obtained in children with the radiologically isolated syndrome (RIS) for diagnosis and prognosis. Factors affecting the frequency and timing of these tests are unknown.

Objective: To determine whether age or sex were associated with (1) having CSF or spinal MRI obtained or (2) the timing of these tests.

[Environmental factors influencing developmental disorders].

Neurodevelopmental disorders have been associated with multiple causes especially, genetic a nd environmental -nutritional, infectious, toxic, traumatic and psychosocial stress among others- that in general do not operate alone, but interact with each other. Of special interest is to identify the mechanism(s) that lead to these disorders. Inflammation and epigenetic changes may play a common end for many forms of environmental risk.

Spontaneous remission in juvenile myasthenia gravis: A cohort of 13 cases and review of the literature.

We describe the clinical course of patients with juvenile myasthenia gravis who experienced spontaneous remission and review the literature. This is a retrospective study of 13 patients with spontaneous remission from a cohort of 133 patients younger than 18-years-old. We compared several variables with potential prognostic value in patients with and without spontaneous remission.

[Treatment of juvenile myasthenia gravis].

Juvenile myasthenia gravis is a rare autoimmune disease, which has made it difficult to collect data from prospective randomized controlled trials to evaluate the efficacy and results of different treatments. Although there are differences between the juvenile myasthenia gravis and that of the adult, the data provided by some researches in adults in the treatment of juvenile myasthenia gravis have been used. The different therapeutic options will be evaluated, with the different evidences that sustain it and a treatment algorithm will be elaborated keeping always in mind that each patient offers us different challenges.

[Microcephaly].

Microcephaly is defined as a head circumference more than two standard deviations below the mean for gender and age. It is an important neurological sign and predictor of future disability. One of its diagnostic difficulties lies in the ranks of the head circumference reference against which we measure each child.

Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification.

The genetic diagnosis algorithm for mitochondrial (mt) diseases starts looking for deletions and common mutations in mtDNA. MtDNA's special features, such as large and variable genome copies, heteroplasmy, polymorphisms, and its duplication in the nuclear genome as pseudogenes (NUMTs), make it vulnerable to diagnostic misleading interpretations. Multiplex Ligation-dependent Probe Amplification (MLPA) is used to detect copy number variations in nuclear genes and its application on mtDNA has not been widely spread.

[Paradoxical reaction during tuberculosis treatment in immunocompetent children: case report].

Tuberculosis is an important public health problem. It is estimated that around 5-10% of patients with tuberculosis present with central nervous system involvement; meningitis and tuberculoma being two of the most frequent manifestations. The paradoxical reaction in patients undergoing antituberculosis treatment is infrequent, nevertheless it is an important consideration in patients, who after an appropriate initial response to specific treatment, present with worsening clinical and radiological signs or the appearance of new lesions.

[Environmental toxic and its effect on neurodevelopment].

Neurodevelopmental disorders are the result of a disturbance of brain function. They are frequent, with varied symptomatology, manifest themselves at different times of life and tend to be persistent with impact at the individual, family and social level. The association of these disorders with genetic entities is low.

[Acute encephalitis anti-ionotropic glutamate receptor activated N-methyl-D-aspartate (NMDAR): analysis of eleven pediatric cases in Argentina (Benito Yelín Award)].

Encephalitis are an inflammatory processes of various origin, among which include autoimmune origin. The identification of antibodies against the N-methyl-D- aspartate, allowed clinical immunological characterization of an entity susceptible to immunomodulatory therapy. Originally described in young women associated with ovarian teratoma, is now a recognized entity in children even in the absence of detectable tumors.

[Acute non-traumatic myelopathy in children and adolescents].

The term 'acute myelopathies'--referred to a spinal cord dysfunction--represent a heterogeneous group of disorders with distinct etiologies, clinical and radiologic features, and prognoses. The objective of this review is to discuss the non-traumatic acute myelopathies. Acute myelopathy can be due to several causes as infective agents or inflammatory processes, such as in acute myelitis, compressive lesions, vascular lesions, etc.

Epilepsy with myoclonic atonic seizures: an electroclinical study of 69 patients.

Epilepsy with myoclonic-atonic seizures is characterized by myoclonic-atonic, absence, tonic-clonic, and eventually tonic seizures, appearing in previously normal children at ages 18-60 months. We analyzed the electroclinical features, treatment, and outcome of 69 patients with myoclonic-atonic seizures; these patients were followed between 1990 and 2012 at the Juan P. Garrahan Pediatric Hospital, Buenos Aires, Argentina.

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

Objective: To identify the mutated gene in a group of patients with an unclassified heritable white matter disorder sharing the same, distinct MRI pattern.

Methods: We used MRI pattern recognition analysis to select a group of patients with a similar, characteristic MRI pattern. We performed whole-exome sequencing to identify the mutated gene.

Long-term follow-up of the ketogenic diet for refractory epilepsy: multicenter Argentinean experience in 216 pediatric patients.

Purpose: In this Argentinean retrospective, collaborative, multicenter study, we examine the efficacy and tolerability of the ketogenic diet (KD) for different epilepsy syndromes.

Materials And Methods: we evaluated the clinical records of 216 patients started on the KD between March 1, 1990 and December 31, 2010.

Results: One hundred forty of the initial patients (65%) remained on the diet at the end of the study period.

Basal ganglia and internal capsule stroke in childhood--risk factors, neuroimaging, and outcome in a series of 28 patients: a tertiary hospital experience.

We present 28 patients with basal ganglia ischemic stroke and describe the main neurological manifestations, neuroimaging findings, risk factors, and outcome. In 23 cases, at least 1 risk factor was identified. A total of 7 cases (25%) had antecedent of varicella infection and 7 cases (25%) had preceding mild head trauma.

[Opsoclonus-myoclonus syndrome].

The opsoclonus-myoclonus syndrome in children is a rare entity which is characterized by irritability, chaotic ocular movements with vertical, horizontal, rotatory components (opsoclonus) along with myoclonus and ataxia. In a high proportion of cases, it is associated with neuroblastoma although other etiologies involving infectious or toxic agents have been reported. An autoimmune mechanism would be responsible for the dysfunction of structures in brain stem and cerebellum thus explaining some of the cardinal symptoms such as opsoclonus, myoclonus and ataxia.

[Subependymal nodules-sudependymal giant cell astrocytoma complex in children with tuberous sclerosis].

The object of this paper is to describe the imaging and clinical characteristics of subependymal nodule (SN) - subependymal giant cell astrocytoma (SGCA) complex in tuberous sclerosis and analyze its evolution in order to attempt early detection and the prevention of intracranial hypertension. We evaluated 22 patients with the pathological diagnosis of SGCA. The diagnosis was made at a median of 10.

[Migraine and other primary headaches in children and adolescents].

Migraine diagnosis only relies on clinical characteristics of the episodes and therefore on the doctor's skill and experience. It is recognized that migraine inclusively in the pediatric group is underdiagnosed and inadequately treated. The International Headache Society recently reviewed the international headache classification and incorporated some clinical criteria according to the different age groups.

Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients.

We describe the electroclinical features, therapy, and long-term evolution of 17 patients with migrating focal seizures in infancy, and analyzed the charts of these patients seen between February 1985 and July 2005. Three different electroclinical patterns were recognized: (1) 8 cases with alternating simple focal motor seizures at onset. The ictal electroencephalography (EEG) pattern was characterized by recurrence of rhythmic focal spikes or rhythmic sharp activity in the Rolandic region; (2) 5 cases with complex focal seizures and progressive appearance of polymorphic delta- activity in 1 temporo-occipital region recurring independently; (3) 4 cases with focal complex seizures with motor manifestations.

Accidental cerebral venous gas embolism in a young patient with congenital heart disease.

This article describes an 11-year-old girl with a diagnosis of Ebstein's anomaly. Glenn and Fontan surgeries were performed successfully. She had a generalized tonic-clonic seizure after peripheral intravenous infusion under pressure.