Update on Pediatric NMJ Disorders-Dr. Sakonju Presentation

Dr. Sakonju Presentation

Pdf Summary

The presentation by Dr. Ai Sakonju from SUNY UPSTATE Medical University focuses on pediatric neuromuscular junction (NMJ) disorders, specifically congenital myasthenic syndromes (CMS), which often involve complex genetic underpinnings and are frequently misdiagnosed. The talk highlights two case studies that underscore the importance of genetic testing and careful clinical evaluation in diagnosing CMS.<br /><br />Case 1 involves a newborn with respiratory failure and multiple physical anomalies whose genetic testing revealed compound heterozygous variants of uncertain significance in the CHAT gene, leading to a diagnosis of CHAT deficiency. Treatment with neostigmine in an ICU setting was suggested to manage respiratory symptoms.<br /><br />Case 2 describes a 6-year-old boy with motor delays and a history of ptosis. His genetic testing showed multiple variants of uncertain significance (VUS), and a low-dose medication trial significantly improved his physical abilities. This case highlighted the challenges in genetic interpretation, emphasizing the necessary differentiation between cis and trans mutations.<br /><br />Dr. Sakonju emphasized using rapid exome sequencing in neonates with respiratory issues and the potential necessity of gene testing for myotonic dystrophy. The presentation warned against the indiscriminate use of pyridostigmine, which can worsen some CMS types, and advocated for specific treatments like liquid albuterol, especially for DOK-7 CMS patients.<br /><br />Overall, the presentation stressed the critical need for thorough genetic testing and clinical evaluation in identifying CMS, highlighting frequent misdiagnoses and the need for cautious medication trials. Understanding the genetic basis and appropriate treatment options can significantly benefit affected children. Additional resources provided include using the AANEM app for feedback and credit claiming, with expectations for continued development in this field through attendee inputs.

Keywords

pediatric neuromuscular junction disorders

congenital myasthenic syndromes

genetic testing

CHAT deficiency

case studies

rapid exome sequencing

DOK-7 CMS

clinical evaluation

neostigmine treatment

misdiagnosis