Document Detail

Progressive scoliosis in central core disease.
MedLine Citation:
PMID:  15926054     Owner:  NLM     Status:  MEDLINE    
Central core disease (CCD) is a rare congenital myopathy with autosomal dominant inheritance. Here, we report on two cases of progressive scoliosis in CCD, pointing out the value of a muscle biopsy to establish the correct diagnosis. The first case involves a 13-year-old boy with severe progressive scoliosis and joint contractures. The patient was initially diagnosed with arthropgryposis multiplex congenita. The second case involves a 45-year-old man with severe scoliosis that had slowly progressed over the years. Both patients suffered from unexplained muscle weakness and severe restriction of pulmonary function. The correct diagnoses were established through muscle biopsies taken from the paravertebral musculature during scoliosis surgery. Correction of the spinal deformities was achieved through posterior instrumentation in both patients, with prior anterior release in one patient. Although scoliosis is a common feature in CCD, the correct diagnosis can be missed in scoliosis patients. Therefore, we recommend a muscle biopsy in patients with scoliosis, unexplained muscle weakness and multiple joint problems.
Kirsten D Mertz; Bernhard Jost; Markus Glatzel; Kan Min
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2005-05-31
Journal Detail:
Title:  European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society     Volume:  14     ISSN:  0940-6719     ISO Abbreviation:  Eur Spine J     Publication Date:  2005 Nov 
Date Detail:
Created Date:  2005-12-13     Completed Date:  2006-02-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9301980     Medline TA:  Eur Spine J     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  900-5     Citation Subset:  IM    
Institute of Neuropathology, University Hospital Zurich, Switzerland.
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MeSH Terms
Middle Aged
Muscle, Skeletal / pathology,  ultrastructure
Myopathy, Central Core / complications*,  diagnosis*
Scoliosis / etiology*,  radiography,  surgery

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