Refractory rhabdomyolysis responsive to corticosteroid therapy

Area of Science:

• Pediatric Neurology
• Genetics
• Nephrology

Background:

• Rhabdomyolysis, a severe myopathy, is common in children.
• Intravenous volume expansion is the standard treatment to prevent kidney injury.
• Congenital myopathies can present with rhabdomyolysis.

Observation:

• A 15-year-old boy with prior rhabdomyolysis presented with muscle symptoms and elevated creatine kinase (CK) post-viral illness.
• Standard fluid therapy yielded minimal improvement.
• The patient had a history of rhabdomyolysis.

Findings:

• Intravenous methylprednisolone administration resulted in a significant decrease in CK levels.
• Clinical symptoms, including muscle weakness and cramps, improved dramatically.
• Genetic testing identified a mutation in the BIN1 gene, confirming congenital centronuclear myopathy.

Implications:

• Methylprednisolone may be a potential therapeutic option for specific pediatric rhabdomyolysis cases.
• BIN1 gene mutations should be considered in pediatric rhabdomyolysis, especially with recurrent episodes.
• This case highlights the importance of genetic diagnosis in managing complex pediatric myopathies.