Neonatal nemaline myopathy associated with NEB variants and a favorable 3-year outcome
Zhengxi Liu, Ya Luo, Guiping Li, Run Li, Xiaokuan CaoRationale:
Nemaline myopathy (NM) is a rare congenital myopathy characterized by muscle weakness and hypotonia. Severe neonatal disease may involve respiratory failure and bulbar dysfunction. Variants in the nebulin gene (
Patient concerns:
A female neonate developed cyanosis, bradycardia, respiratory distress, and hypotonia shortly after birth. She required invasive mechanical ventilation and later experienced recurrent respiratory deterioration, difficulty weaning from ventilatory support, poor feeding, vomiting and choking, weak sucking and swallowing, and diminished primitive reflexes.
Diagnoses:
The clinical phenotype and trio whole-exome sequencing findings supported a clinical diagnosis of NM associated with
Interventions:
The patient received invasive and noninvasive respiratory support, oxygen therapy, feeding and symptomatic management, serial neurological assessments, and neurological rehabilitation.
Outcomes:
The Neonatal Behavioral Neurological Assessment score increased from 25 on day 7 to 30 on day 14 and 36 on day 28. Respiratory function, feeding, and muscle tone gradually improved, allowing respiratory support to be withdrawn. Denver Developmental Screening Test assessments performed at 6-month intervals after discharge identified no reported developmental abnormalities. At 3 years of age, no apparent hypotonia, movement disorder, or other clinically evident motor impairment was observed.
Lessons:
Neonatal NM associated with