Neonatal nemaline myopathy associated with NEB variants and a favorable 3-year outcome: A case report.
Zhengxi Liu, Ya Luo, Guiping Li et al.
✦ AI-curated · Sources linked
Case in brief
A female neonate developed cyanosis, bradycardia, respiratory distress, and hypotonia shortly after birth, with recurrent respiratory deterioration and bulbar feeding and swallowing difficulties. Trio whole-exome sequencing found one maternally inherited pathogenic NEB frameshift variant and two missense variants of uncertain significance, supporting—but not definitively establishing—nemaline myopathy; biopsy, phasing, and functional studies were unavailable. With respiratory, feeding, and supportive care, her respiratory function, feeding, and tone improved, and support was withdrawn. Developmental screening found no reported abnormalities, and at age 3 years she had no apparent motor impairment.
What made this case unusual
Despite life-threatening neonatal respiratory and bulbar dysfunction, the child had a favorable reported early developmental course, with no apparent motor impairment at age 3 years.
Diagnostic / clinical pearl
NEB sequencing can support evaluation of suspected neonatal nemaline myopathy, but variants—especially those of uncertain significance—require cautious interpretation when biopsy, phasing, and functional evidence are unavailable.
Why it matters
A severe neonatal presentation did not predict an invariably poor early outcome in this case; ongoing neuromuscular, respiratory, feeding, orthopedic, and developmental surveillance was still considered warranted.