Journal of Pediatric Neurology
DOI: 10.1055/s-0040-1712177
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Utility of Rapid Exome Sequencing in the Diagnosis of a Rare Congenital Myasthenic Syndromes in a Preterm Infant

1  Department of Neonatology, Cleveland Clinic Children's Hospital, Cleveland, Ohio, United States
,
Neil Friedman
2  Department of Neurology, Phoenix Children's Hospital, Phoenix, Arizona, United States
,
Ricardio J. Rodriguez
1  Department of Neonatology, Cleveland Clinic Children's Hospital, Cleveland, Ohio, United States
› Author Affiliations
Funding None.
Further Information

Publication History

24 February 2020

19 April 2020

Publication Date:
26 May 2020 (online)

Abstract

Congenital myasthenic syndromes (CMS) are rare and challenging diagnoses in preterm neonates. We presented in this case report a preterm infant with recurrent extubation failures. An exhaustive workup to rule out common etiologies of chronic ventilator dependence was negative including a neostigmine trial, acetylcholine receptor antibodies, and chromosomal microarray. Electromyography (EMG) showed features of a neuromuscular junction defect. After ruling out metabolic, inflammatory, and immune mediated causes, a rapid exome sequencing demonstrated CHRNB1 gene mutation diagnostic of autosomal dominant slow channel CMS. The patient was started on fluoxetine and nebulized salbutamol with a gradual improvement in her respiratory function over time with minimal ventilator support.

Authors' Contribution

I.B. drafted the initial manuscript and reviewed and revised the manuscript. N.F. critically reviewed and revised the manuscript for important intellectual content. R.J.R. critically reviewed the manuscript for important intellectual content.


Note

All authors approved the final manuscript as submitted and agree to be accountable for all aspects of this work.