Journal of Pediatric Neurology
DOI: 10.1055/s-0040-1718771
Case Report

Fluctuating Weakness in an 18-Month-Boy: Congenital Myasthenia

Arundhati Banerjee
1  Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India
,
Gananamani Senguttuvan
1  Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India
,
Chaitanya Reddy
1  Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India
,
1  Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India
› Author Affiliations
Funding None.

Abstract

We report a case of an 18-month-old child who presented with motor predominant delay in attaining developmental milestones and early onset fatiguable weakness with ptosis and ophthalmoparesis. This ptosis and ophthalmoparesis typically worsened with progression of the day. Examination showed proximal weakness with preserved muscle stretch reflexes. Electrophysiology showed characteristic decrement on repetitive nerve stimulation test that localized to disorders of the neuromuscular junction. Next-generation sequencing showed a pathogenic variant of CHRNE that was responsible for congenital myasthenic syndrome. Such variants show increased improvement with salbutamol in addition to anticholinesterase inhibitors. Hence, the child was started on pyridostigmine, and the plan was to add on salbutamol on follow-up if optimal improvement does not occur.

Ethical Approval

We confirm that we have read the journal's position on issues in ethical publication and affirm that this report is consistent with those guidelines.




Publication History

Received: 27 June 2020

Accepted: 22 September 2020

Publication Date:
03 November 2020 (online)

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Stuttgart · New York