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Prolonged survival in neonatal nemaline rod myopathy
B L Banwell1, N C Singh, D A Ramsay
1Department of Paediatrics and Critical Care, Children's Hospital of Western Ontario, London, Canada.
Insights
Severe nemaline rod myopathy typically causes early mortality in neonates. However, two infants receiving intensive pediatric critical care showed progressive improvement, achieving respiratory independence and normal cognitive development.
Area of Science:
- Pediatric critical care medicine
- Neuromuscular disorders
- Neonatology
Background:
- Severe nemaline rod myopathy (sNRM) is a serious congenital neuromuscular disease.
- Neonates with sNRM often face significant morbidity and mortality.
- Early mortality is a recognized outcome for severe cases of nemaline rod myopathy.
Purpose of the Study:
- To report on two neonates with severe nemaline rod myopathy who defied typical prognostic expectations.
- To highlight the potential for recovery and improved outcomes in select cases of sNRM.
- To document the long-term progress of infants with sNRM under intensive care.
Main Methods:
- Case report of two neonates diagnosed with severe nemaline rod myopathy.
- Provision of comprehensive pediatric critical care unit support from birth.
- Longitudinal monitoring of respiratory function, muscle strength, and cognitive development.
Main Results:
- Both patients demonstrated progressive clinical improvement from birth.
- Respiratory independence was achieved at 15 and 22 months of age.
- At 17 and 29 months, patients are cognitively normal with increasing muscle strength.
Conclusions:
- Severe nemaline rod myopathy may not invariably lead to early mortality.
- Intensive pediatric critical care can facilitate significant recovery in affected neonates.
- These cases suggest a potential for better long-term outcomes than previously established for sNRM.
Abstract:
Two children are reported who are notable exceptions to the rule of early mortality reported for neonates with severe nemaline rod myopathy. Their conditions improved progressively from birth with full pediatric critical care unit support. They achieved respiratory independence at 22 months and 15 months and now at ages 29 months and 17 months, respectively, they are cognitively normal and demonstrating progressive improvement in muscle strength.