Bilateral congenital lumbar hernias in a patient with central core disease--A case report
Joanna Lazier1, Jean K Mah2, Ana Nikolic3
1Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.
Insights
Congenital lumbar hernias are rare birth defects. This study links them to central core disease, a muscle disorder caused by RYR1 gene mutations, expanding the known phenotype.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Surgery
Background:
- Congenital lumbar hernias are rare malformations resulting from posterior abdominal wall developmental defects.
- They are occasionally associated with lumbocostovertebral syndrome and other anomalies like arthrogryposis.
Observation:
- A case report of an infant girl presenting with bilateral congenital lumbar hernias.
- The infant also exhibited multiple joint contractures, reduced muscle mass, and symptoms suggestive of malignant hyperthermia.
Findings:
- Molecular analysis identified an R4861C mutation in the ryanodine receptor 1 (RYR1) gene.
- This mutation is a known cause of central core disease, a congenital myopathy.
Implications:
- This is the first documented instance of congenital lumbar hernias co-occurring with central core disease.
- The findings suggest that RYR1 gene mutations may impact muscle development and differentiation, potentially expanding the phenotype of RYR1-related myopathies to include congenital lumbar hernias.
Abstract:
Congenital lumbar hernias are rare malformations caused by defects in the development of the posterior abdominal wall. A known association exists with lumbocostovertebral syndrome; however other associated anomalies, including one case with arthrogryposis, have been previously reported. We present an infant girl with bilateral congenital lumbar hernias, multiple joint contractures, decreased muscle bulk and symptoms of malignant hyperthermia. Molecular testing revealed an R4861C mutation in the ryanodine receptor 1 (RYR1) gene, known to be associated with central core disease. This is the first reported case of the co-occurrence of congenital lumbar hernias and central core disease. We hypothesize that ryanodine receptor 1 mutations may interrupt muscle differentiation and development. Further, this case suggests an expansion of the ryanodine receptor 1-related myopathy phenotype to include congenital lumbar hernias.
