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Central core disease--a case report

N H Myong1, Y L Suh, J G Chi

  • 1Department of Pathology, Seoul National University, Korea.

Journal of Korean Medical Science
|June 1, 1993
PubMed
Summary
This summary is machine-generated.

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Central core disease, a rare congenital myopathy, presents with non-progressive muscle weakness. This case highlights typical findings in a Korean child, including central cores on muscle biopsy.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Central core disease (CCD) is a rare congenital myopathy.
  • It is characterized by abnormal myofibril organization within muscle fibers, forming 'cores'.
  • CCD typically presents with non-progressive muscle weakness.

Observation:

  • A 5-year-old Korean girl presented with typical non-progressive muscle weakness.
  • Electrodiagnostic studies revealed low-amplitude polyphasic electromyography and normal nerve conduction velocity.
  • Gastrocnemius muscle biopsy demonstrated central cores in over 80% of fibers.

Findings:

  • Histochemistry showed deficient or absent mitochondrial enzymes within the cores and a predominance of type I muscle fibers.
  • Ultrastructural analysis identified both structured and non-structured cores, occurring separately or together within single muscle fibers.

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  • This case represents the first reported instance of Central Core Disease in the Korean literature.

    • Implications:

    • This case contributes to the understanding of Central Core Disease presentation in pediatric populations.
    • It underscores the utility of combining electrodiagnostic, histochemical, and ultrastructural analyses for CCD diagnosis.
    • The report expands the geographic and ethnic documentation of this rare neuromuscular disorder.