원위부 하지 위약을 주소로 한 중심핵병 1예 = A Case of Central Core Disease with Distal Lower Limb Weakness - Case Report -

다국어 초록 (Multilingual Abstract)

We report a 13-year-old boy with central core disease who had prominent distal lower limb weakness.
Three months ago, his lower limb weakness had progressed slowly, then he couldn’t toe stand. He had no
sensory symptoms and no family history of genetic disease. The results of motor and sensory nerve conduction
tests were normal in both legs. Needle electromyography showed denervation and polyphasic
potential with short duration in both lower limbs. The serum creatine kinase level was normal. Considering
the test results, the patient was initially suspicious for distal myopathy. However, as uniform central
cores were observed in type 1 muscle fibers in muscle biopsy, the patient was ultimately diagnosed with
central core disease. Central core disease is normally known as an autosomal dominant congenital myopathy
which results in prominent proximal limb weakness. Therefore, this case with distal lower limb weakness
presented an atypical feature of central core disease.

참고문헌 (Reference)

1 Greenfield JG, "The prognostic value of the muscle biopsy in the floppy infant" 81 : 461-484, 1958

2 McCarthy TV, "Ryanodine receptor mutations in malignant hyperthermia and central core disease" 15 : 410-417, 2000

3 Dubowitz V, "Oxidative enzymes and phosphorylase in central core disease of muscle" 2 : 23-, 1960

4 Engel WK, "Late onset rod myopathy: a newly recognized, acquired and progressive disease" 16 : 308-309, 1966

5 Dumitru D, "Hereditary myopathies. In Electrodiagnostic medicine, 2nd ed" Hanley & Belfus 1317-1320, 2002

6 Mastaglia FL, "Genetic myopathies. In Clinical neurology, 1st ed" Churchill Livingstone 1268-1269, 1991

7 Walton SJ, "Disorders of voluntary muscle, 5th ed" Churchill Livingstone 671-672, 1988

8 Shuaib A, "Central core disease: clinical features in 13 patients" 66 : 389-396, 1987

9 Issacs H, "Central core disease: A correlated genetic histohemical, ultramicroscopic and biochemical study" 38 : 1177-1186, 1975

10 Telerman-Topper N, "Central core disease. A study of clinically unaffected muscle" 19 : 207-223, 1973

11 Myung NH, "Central core disease, a case report" 8 : 235-240, 1993

12 Dubowithz V, "Central core disease of muscle: clinical, histochemical and electromicroscopic studies of an affected mother and child" 93 : 133-146, 1970

13 Mrozek K, "A sporadic case of central core disease" 10 : 339-348, 1970

14 Shy GM, "A new congenital non-progressive myopathy" 79 : 610-621, 1956