Wilmer Santiago Herrera Malpica, MD, CNCT, Receives ANF's 2024 Pediatric Research Award

Wilmer Santiago Herrera Malpica, MD, CNCT, has been awarded one of this year’s new Pediatric Research Awards for his abstract, “Congenital Onset Presynaptic Myasthenic Syndrome: Specific Mutation, Phenotype, and Analysis of Stimulation Potential With Concentric Electrodes.” 

The motivation for Dr. Santiago Herrera Malpica’s research was the need for precise and effective use of concentric needle electrodes to explore stimulated potential analysis in rare disorders like congenital myasthenic syndromes. The winning abstract reviews findings from a 9-year-old girl with a history of perinatal hypoxia, delayed motor neurodevelopment, and behavioral disorders. Stimulated potential analysis with concentric needle electrodes (SPACE) of the frontalis muscle showed abnormal jitter with a mean consecutive difference (MCD) between 27 (minimum) and 122 (maximus) and an average of 69 which is indicative of a NM junction disease. Trio exome sequencing was performed, which found a variant in the SYT2 gene (NM_177402. 5) c. 1022T>C; (p. Phe341Ser) missense type, with an autosomal recessive inheritance pattern in compound heterozygosity compatible with congenital onset presynaptic myasthenic syndrome (CMS7B). 

Dr. Santiago Herrera Malpica was excited to submit his abstract to AANEM saying, “It is an association of great prestige and recognition worldwide, and it encourages being up to date on diseases that compromise the muscles and nerves.” Going forward, he plans to learn more about the electrophysiological diagnosis with US and the contribution of rehabilitation in the pediatric population. 

Appreciative of the opportunity to collaborate with AANEM and learn from fellow specialists, Dr. Santiago Herrera Malpica expresses gratitude for the Pediatric Research Award. “It fills me with pride and motivation as a professional and representative of my country, Colombia, to continue advancing in knowledge and diagnosis of patients.”

Dr. Santiago Herrera Malpica's abstract will be presented at the 2024 AANEM Annual Meeting in Savannah, Georgia, Oct. 15-18 among all abstracts, including the Best Abstract Award, Best Abstract Runner-Up Award, Residency and Fellowship Member Award, Medical Student Award, and President's Research Award abstracts.