Medicina-buenos Aires最新文献

Sudden unexpected death in epilepsy (SUDEP) is an important cause of mortality in children with epilepsy, with a similar incidence to that of adults. Its epidemiology and pathophysiology are not yet fully defined. This review article addresses SUDEP in the pediatric population, describing its definition, epidemiology, pathophysiology and associated risk factors with a particular focus on prevention strategies and communication to families. Risk factors such as the presence and frequency of generalized tonic-clonic seizures -especially during sleep-, drug-resistant epilepsy, lack of nocturnal supervision and neurological comorbidities are emphasized. Proposed pathophysiological mechanisms include autonomic dysregulation, postictal respiratory depression and genetic susceptibility, particularly in developmental and epileptic encephalopathies such as Dravet syndrome. Preventive strategies are centered on seizure control, nocturnal monitoring, caregiver education and a multidisciplinary approach. Knowledge and education regarding the topic are often greater in specialized drug-resistant epilepsy centers, yet improvement is needed across all care settings. Informing families in a relevant and sensitive manner is highlighted, aiming to foster a trusting and supportive relationship. Although the risk of SUDEP cannot be completely eliminated, the implementation of evidence-based measures reduces its incidence.

The management of tics requires a multimodal approach, combining pharmacological and non-pharmacological treatments, tailored to each patient according to the severity of the tics, their impact on quality of life, associated comorbidities, and the patient's preferences. In recent years, new drugs with promising results have been investigated, as well as surgical techniques such as deep brain stimulation, which has shown efficacy in refractory cases and in those with debilitating symptoms. However, more controlled and long-term studies are needed to confirm the efficacy and safety of these therapeutic options in different clinical contexts.

With the aim of evaluating the proposed revision to the diagnostic criteria for multiple sclerosis, this article explores a selection of recent studies that have significantly contributed to increase the accuracy of diagnosis, introducing new neuroimaging markers, with special focus in pediatric patients. The following changes have been introduced to the 2024 revision of multiple sclerosis diagnostic criteria: optic nerve as the 5th central nervous system topography, specific cases with radiologically isolated syndromes at risk of future relapses, now considered as having multiple sclerosis, and the diagnostic power of lesions with central vein sign, paramagnetic rim lesions, and cortical lesions. Finally, the 2024 revised criteria refined the diagnostic work-up of pediatric onset multiple sclerosis by introducing the antibody testing for myelin oligodendrocytes glycoprotein in patients younger than 12 years.

This article provides an overview of neuromuscular diseases in childhood for pediatric neurologists, highlighting conditions with available specific treatments. It focuses on spinal muscular atrophy (SMA), where disease-modifying therapies have changed the natural history of the disease. Congenital myasthenic syndromes are addressed next, emphasizing the importance of genetic diagnosis for tailored therapies. In the field of muscular dystrophies, we will highlight advances in Duchenne. Mitochondrial myopathies are also reviewed, with mention of treatments such nucleoside for timidine kinase deficiency. Pompe disease is highlighted due to the availability of enzyme replacement therapy and finally, the article discusses treatable metabolic myopathies, such as riboflavin transporter deficiencies. This review aims to promote early diagnosis and personalized management in neuromuscular disorders.

Neurofibromatosis type 1 (NF1) is a genetically determined, autosomal dominant disease with complete penetrance and variable clinical expression. It is characterized by the presence of café-au-lait macules, ephelides, Lisch nodules, neurofibromas, plexiform neurofibromas and predisposition to tumours. From a neurological point of view, it can manifest with migraines, seizures, vasculopathy, learning disorders, etc. The current diagnostic criteria include genetic and new ophthalmological findings. Although, the extensive clinical and genetic heterogeneity of the disorder makes genotype-phenotype correlation difficult. Recent studies have revealed a limited number of genotype-phenotype correlations which have improved the understanding of this disease and have favored the development of precision treatments (MEK pathway inhibitors), improving quality of life of affected children. A multidisciplinary approach is crucial to provide appropriate care for these children. Early detection of neurological and oncological complications is important, to provide timely interventions to manage symptoms in a timely manner.

Parasomnias, from the Greek "para" (around) and the Latin "somnus" (sleep), refer to manifestations that occur in relation to sleep: whether at the onset, during its course, or upon waking. They constitute up to a third of consultations. These events are striking and often bothersome, both for those who experience them and for those who observe them. They involve motor, cardiovascular, or other manifestations, generating fear and/or anxiety when witnessed. Some parasomnias show a familial pattern or are associated with neurodevelopmental disorders, appearing in relation to triggers such as febrile processes, medications, emotional disturbances, or respiratory disorders. This can lead to confusion with conditions like epilepsy, necessitating meticulous examination and clinical history-taking to ensure accurate diagnosis. The International Classification of Sleep Disorders (ICSD-3) by the American Academy of Sleep Medicine (AASM) classifies parasomnias into three categories: a) Parasomnias related to REM (rapid eye movement) sleep; b) Parasomnias related to non-REM sleep and c) Other specified or unspecified parasomnias. Given the impact of sleep problems on children's development, it is essential to be adequately prepared and informed to address these issues and prevent potential complications.

Diagnosing a metabolic disease is not a simple task. There are more than 2000 metabolic diseases, 70% of which present with neurological manifestations. The signs and symptoms of these neurometabolic diseases are highly varied and range from purely neurological, biochemical, multisystemic, or simply cutaneous. Cutaneous manifestations in metabolic diseases appear in 10-12% as the initial sign or accompany other neurological or systemic manifestations. Identifying these cutaneous signs can assist the clinician in orienting suspicion, facilitating diagnosis, or identifying complications or treatment side effects. The main cutaneous manifestations in neurometabolic diseases can be grouped into vascular lesions, ichthyosis, papular and nodular skin lesions, pigmentation disorders, photosensitivity, skin laxity and hair involvement. In this article, we summarize the most common cutaneous signs in metabolic diseases, diagnostic guidance, and therapeutic options.

Intellectual giftedness is defined as the manifestation in an individual of exceptional cognitive abilities in various areas of knowledge, skills, or competencies, compared to the average performance standards observed in the general population. Parents, teachers, and neurobiologists face complex questions for which there are still few conclusive answers. It presents a critical analysis of current diagnostic processes, challenges, and limitations. It also discusses biological factors involved, such as genetics, brain function, and development, as well as the influence of the environment on the expression and enhancement of these abilities. Finally, practical recommendations are offered to professionals, families, and educators to foster environments that promote harmonic development for those exceptional children and opportunities for the development of their full potential for all children.

Acquired brain damage, comprising traumatic and nontraumatic brain injuries, is a major public health concern with far-reaching effects on prognosis and continued disability. This review aims to explore the types of acquired brain damage and cognitive rehabilitation techniques, and the role of cognitive rehabilitation in aiding recovery in pediatric populations. This further highlights the current gaps in research and future directions.