Maria Paula Rengifo Mosquera
The Free University, ColombiaPresentation Title:
Unraveling childhood alternating hemiplegia: A scoping review
Abstract
Alternating Hemiplegia of Childhood (AHC) is a rare and complex neurological disorder characterized by recurrent episodes of hemiplegia and a diverse spectrum of neurodevelopmental symptoms that begin before 18 months of age. This scoping review aimed to synthesize the available literature on the clinical, genetic, and therapeutic aspects of AHC in order to provide a comprehensive understanding of the disease. The global prevalence of AHC is approximately 1 in 1,000,000 children and is strongly associated with de novo mutations in the ATP1A3 gene, which encodes subunits of the neuronal Na⁺/K⁺-ATPase pump and plays a critical role in regulating neuronal excitability. Clinically, AHC manifests in three phases, with episodic hemiplegia triggered by factors such as stress, temperature changes, bright lights, or bathing. Patients may also present with cognitive impairment, dystonia, ataxia, choreoathetosis, epilepsy, autonomic dysfunction, and, in some cases, cardiac and endocrine abnormalities.
Diagnosis is primarily clinical and based on criteria such as early onset, resolution of symptoms during sleep, and fluctuating neurological signs; genetic confirmation through ATP1A3 sequencing strengthens diagnostic accuracy. Treatment remains symptomatic and individualized, using acute and preventive strategies with varying success. Therapeutic agents include flunarizine, benzodiazepines, topiramate, ketogenic diet, and in select cases, vagus nerve stimulation. In conclusion, AHC requires a multidisciplinary approach and long-term follow-up. Further multicenter, standardized, and controlled studies are urgently needed to better understand the pathophysiology of AHC and to develop targeted therapies that can improve the quality of life for affected individuals and their families.
Biography
Maria Paula Rengifo Mosquera is currently a Pediatrics Resident at the Free University, Cali Campus, Colombia. She has developed a strong academic interest in pediatric neurology and rare neurological disorders. She has participated in local and international academic events and collaborative research projects during her medical training. Her areas of interest include neurogenetics, child development, and the early detection of neurological diseases in pediatric populations.
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