Andrea Savransky, Andrea Del Rocío Quiroz Saavedra, Bolivar Quito-Betancourt, Ruth Elizabeth Chávez, Luz Monti, Maria Celeste Buompadre
{"title":"[Guide to approaching the first demyelinating event in pediatrics].","authors":"Andrea Savransky, Andrea Del Rocío Quiroz Saavedra, Bolivar Quito-Betancourt, Ruth Elizabeth Chávez, Luz Monti, Maria Celeste Buompadre","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Isolated demyelinating syndrome (IDS), or first demyelinating event, is defined as an acute neurological presentation associated with central nervous system (CNS) demyelination. It may occur as a monophasic episode or represent the initial manifestation of a recurrent demyelinating disorder. IDS is classified as either monofocal -affecting the brain, brainstem, cerebellum, optic nerve, or spinal cord-or multifocal, when a combination of these regions is involved. Management is primarily directed toward optimizing functional recovery. Additionally, in patients who fulfill diagnostic criteria for an underlying demyelinating disease, the initiation of immunosuppressive therapy should be considered.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"186-195"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Impact of emotional dysregulation on Attention Deficit Hyperactivity Disorder].","authors":"Esteban Vaucheret Paz","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent neurodevelopmental disorders in childhood. Beyond its core symptoms of inattention, hyperactivity, and impulsivity, approximately 25% to 45% of individuals with ADHD exhibit emotional dysregulation, which is associated with greater clinical severity and poorer functional outcomes. Emotion regulation refers to the ability to identify, modulate, and implement emotional responses that are appropriate to contextual demands and goal-directed behavior. Emotional dysregulation arises when these processes are disrupted, leading to disproportionate emotional responses, emotional lability, irritability, and maladaptive behaviors. Emotional dysregulation in ADHD constitutes a dimensional trait rather than a diagnostic criterion. Neurocognitive models highlight the contribution of atypical attentional orientation toward emotional stimuli, a preference for immediate rewards, and alterations in regulatory mechanisms. Executive functions play a central role in this process, particularly working memory, inhibitory control, and cognitive flexibility. Working memory emerges as the most consistent predictor of emotional dysregulation. Emotional lability has been identified as a frequent and relatively specific manifestation of ADHD, whereas irritability is considered a transdiagnostic construct associated with broader psychopathological trajectories. Emotional dysregulation is associated with reduced response to standard pharmacological and non-pharmacological treatments for ADHD, increased psychiatric comorbidity, and poorer quality of life. Systematic identification and targeted intervention of emotional dysregulation should therefore be an integral part of the assessment and management of ADHD.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"54-59"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Florencia Pérez-Vidarte, Alfredo Cerisola, Ruth Chávez, Nicolás Espinoza, Aroldo Morón, Virginia Pedemonte, Marcelo Roman, Alcy Torres, Andrea Savransky
{"title":"[Disease associated with anti-myelin oligodendrocyte glycoprotein (MOGAD)].","authors":"Florencia Pérez-Vidarte, Alfredo Cerisola, Ruth Chávez, Nicolás Espinoza, Aroldo Morón, Virginia Pedemonte, Marcelo Roman, Alcy Torres, Andrea Savransky","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The disease associated with antibodies against myelin oligodendrocyte glycoprotein (MOGAD) is an inflammatory demyelinating disorder of the central nervous system. The clinical phenotype is diverse and varies according to the age at presentation, with acute disseminated encephalomyelitis (ADEM) in children, and optic neuritis and transverse myelitis more frequently observed in adults. Detection of anti-MOG antibodies is required for diagnosis. Testing for antibodies using serum cell-based assays (CBA) is the method of choice. Diagnosis is made based on the clinical presentation associated with antibody positivity and the exclusion of more likely alternative diagnoses. Acute management includes intravenous methylprednisolone (IVMP) for 3-5 days, followed by oral corticosteroids with a gradual taper over the 3 months following the acute event. If there is inadequate response, intravenous immunoglobulin (IVIG) or plasma exchange may be initiated as second-line therapy. Maintenance treatment is reserved for patients who experience relapses or have a severe initial presentation with poor recovery.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"177-181"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Paula Ivarola, Oscar Papazian, Maria Celeste Buompadre
{"title":"[Neuroleptic Malignant Syndrome].","authors":"Paula Ivarola, Oscar Papazian, Maria Celeste Buompadre","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Neuroleptic malignant syndrome (NMS) is a rare but potentially life-threatening neurological emergency, most commonly associated with antipsychotic drugs and other dopamine receptor-blocking agents. Although its incidence has declined over recent decades, NMS remains a diagnostic challenge due to its heterogeneous clinical presentation and overlap with other drug-induced syndromes. The classic clinical picture is defined by a tetrad of hyperthermia, generalized muscle rigidity, altered mental status, and autonomic dysfunction, frequently accompanied by marked creatine kinase elevation secondary to rhabdomyolysis. Diagnosis is primarily clinical and supported by complementary studies aimed at assessing severity, excluding differential diagnoses, and monitoring systemic complications. The underlying pathophysiology involves dopamine D2 receptor blockade within the central nervous system, particularly in the hypothalamus and basal ganglia, leading to impaired thermoregulation and motor control. Management relies on immediate discontinuation of the offending agent, intensive supportive care, and, in moderate to severe cases, pharmacological treatment with benzodiazepines, dopaminergic agents such as bromocriptine or amantadine, and muscle relaxants such as dantrolene. Early recognition and timely treatment are crucial to ensure favorable outcomes and reduce morbidity and mortality.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"157-161"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rocío Garcia, Andrea Quiroz Saavedra, Sandra Jimenez, Alex Aguirre, Elizabeth Wilson, Denis López, Alfredo Cerisola, Edgard Andrade, Maria Teresa Acosta, Jorge Vidaurre, Andrea Savransky
{"title":"[Update guide on pediatric multiple sclerosis].","authors":"Rocío Garcia, Andrea Quiroz Saavedra, Sandra Jimenez, Alex Aguirre, Elizabeth Wilson, Denis López, Alfredo Cerisola, Edgard Andrade, Maria Teresa Acosta, Jorge Vidaurre, Andrea Savransky","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Multiple Sclerosis (MS) is a chronic, immune-mediated demyelinating disorder of the central nervous system. Approximately 10% of cases present before 18 years of age, constituting paediatric-onset MS (POMS). Compared with adults, children with MS exhibit higher relapse rates and shorter intervals between the first event and subsequent relapses, yet generally demonstrate better recovery. The latest revision of the diagnostic criteria (2024) incorporates: the optic nerve as an additional location; specific MRI radiologically isolated syndrome; and CSF kappa free light chain as an adjunctive biomarker. In paediatric populations, the typically high burden of inflammatory lesions and high relapse rate warrants special consideration. The principal differential diagnosis is MOG-antibody-associated disease, Evidence indicates that early initiation of high-efficacy disease-modifying therapies is associated with improved long-term outcomes.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"172-176"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bolívar Quito-Betancourt, María Teresa Acosta, Hugo A Arroyo, Alfredo Cerisola, Juan Contreras, Gabriel González Rabelino, Alonso Zea Vera
{"title":"[Tics and Tourette Syndrome].","authors":"Bolívar Quito-Betancourt, María Teresa Acosta, Hugo A Arroyo, Alfredo Cerisola, Juan Contreras, Gabriel González Rabelino, Alonso Zea Vera","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Tics disorders and Tourette syndrome (TS) are neurodevelopmental conditions characterized by motor and/or vocal tics with onset in childhood. Their clinical presentation is heterogeneous and fluctuating over time, with exacerbations related to emotional, environmental, and medical factors. Diagnosis is clinical and based on medical history and neurological examination, following DSM-5-TR criteria, with ancillary testing rarely required. The prevalence of TS is estimated at 0.7%, while transient tic disorders affect up to 10% of children. The natural history is generally favorable, with symptom improvement during adolescence, although a subset of patients continues to experience tics into adulthood. Most individuals with TS present psychiatric comorbidities, particularly attention-deficit/hyperactivity disorder and obsessive-compulsive disorder, which significantly impact quality of life and should be prioritized in management decisions. Treatment is recommended only when tics cause functional impairment and follows a stepwise approach including psychoeducation, behavioral interventions, and individualized pharmacological therapy. Comprehensive behavioral intervention for tics is considered first-line treatment when available. Alpha-2 adrenergic agonists and dopamine antagonists are the most commonly used pharmacological options. Neuromodulation therapies are reserved for severe, refractory cases. These recommendations from the Ibero-American Academy of Pediatric Neurology summarize current evidence and provide a practical, updated framework for the diagnosis and management of tic disorders and Tourette syndrome in pediatric patients.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"119-128"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gustavo Fretchel, María Guillermina Ludueña, Mariana Labato
{"title":"[20th International Congress of Internal Medicine of The Hospital de Clínicas José de San Martín. University of Buenos Aires].","authors":"Gustavo Fretchel, María Guillermina Ludueña, Mariana Labato","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 2 ","pages":"1-113"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148679070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Andrés Nascimento, Carlos Ortez, Jessica Expósito, Laura Carrera, Silvia Cerezo, Stephanie Lotz-Esquivel, Irene Zschaeck, Agustín Lujan, Chiara Gatnau, Berta Estévez-Arias, Eduardo Tizzano, Daniel Natera De Benito
{"title":"[Congenital muscular dystrophy phenotypes].","authors":"Andrés Nascimento, Carlos Ortez, Jessica Expósito, Laura Carrera, Silvia Cerezo, Stephanie Lotz-Esquivel, Irene Zschaeck, Agustín Lujan, Chiara Gatnau, Berta Estévez-Arias, Eduardo Tizzano, Daniel Natera De Benito","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Congenital muscular dystrophies (CMDs) are a clinically and genetically heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscle weakness and dystrophic changes on muscle biopsy, typically presenting at birth or in early infancy. Although classically defined by hypotonia and delayed motor development, CMDs are now recognized as part of a broader phenotypic continuum, with overlap with limb-girdle muscular dystrophies and other inherited myopathies. CMDs are progressive conditions, frequently complicated by joint contractures, spinal deformities, respiratory insufficiency, and, in selected genotypes, cardiac involvement. While no curative treatments are currently available, advances in molecular diagnosis have significantly improved genotype-phenotype correlations, clinical surveillance, and multidisciplinary management. Accurate genetic diagnosis is essential to guide respiratory and cardiac monitoring and to facilitate access to emerging therapies and clinical trials. CMDs include laminin α-2 deficiency, collagen VI-related disorders, SEPN1-related myopathy, laminopathies, and disorders of α-dystroglycan glycosylation, a particularly heterogeneous subgroup often associated with central nervous system and ocular involvement.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"7-13"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Monogenic and acquired cerebral vasculopathies as a cause of cerebrovascular disease in pediatrics].","authors":"María Celeste Buompadre","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Cerebral vasculopathies represent the most frequent risk factor for pediatric stroke. Although uncommon, monogenic vasculopathies show significant genotype- phenotype variability and involve vessels of different calibers. Among acquired forms, focal cerebral arteriopathy is the most frequent entity. Neuroimaging plays a central role in diagnosis and follow-up of vasculopathies. Recognition of specific patterns of vascular involvement helps guide diagnosis, assess recurrence risk, and inform therapeutic decisions.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"84-90"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alonso Zea Vera, Alfredo Cerisola, Maria José Rivera, Andrea Savransky, Laura Aguilar
{"title":"[Dystonia].","authors":"Alonso Zea Vera, Alfredo Cerisola, Maria José Rivera, Andrea Savransky, Laura Aguilar","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Dystonia is one of the most common hyperkinetic movement disorders in childhood and represents a significant cause of disability and impaired quality of life. Early recognition remains challenging due to its marked clinical and etiological heterogeneity and its frequent misdiagnosis as other movement disorders or functional neurological conditions. In 2025, an updated international consensus on the definition and classification of dystonia was published, maintaining a two-axis framework that integrates clinical characteristics (Axis I) and etiological and pathophysiological mechanisms (Axis II). In pediatric patients, dystonia may arise from genetic, acquired, structural, or functional causes, highlighting the importance of identifying treatable conditions such as dopa-responsive dystonia, Wilson disease, and GLUT-1 deficiency. Diagnostic evaluation requires a systematic approach, including targeted laboratory studies for reversible etiologies, brain magnetic resonance imaging, and genetic testing in selected cases. Management is individualized and may involve pharmacological therapies, focal treatment with botulinum toxin, and surgical options such as deep brain stimulation for refractory dystonia. Status dystonicus represents the most severe manifestation and constitutes a medical emergency requiring prompt recognition and intervention. These recommendations provide a practical and updated framework for the diagnosis and management of pediatric dystonia.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"129-136"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}