Central Core Disease Associated with Scoliosis Report of One Case

中心蕊肌病是一種并不是常見的先天性肌病變。本篇報告一中心肌病合併脊柱側彎的病例。病患從小就有輕微運動發展遲滯，大約五歲左右，父母親注意到其有脊柱側彎以及輕微肌無力。神經學檢查測示下肢膝反射消失；脊椎核磁共振描并無明顯病變；血清中CK值有明顯上昇現象；肌肉切片顯示第一型肌織維萎縮及增加，在NADH及SDH染色下，則可發現肌肉織維有明顯的中央空洞，因此診斷為中心蕊肌病。因為其它肌肉病變大多在發病末期才會出現脊柱側彎便成為此病之特色。我們建議任何診斷為特特發性脊柱側彎之病患，不管其是否有肌肉無力之現象，均需要做詳細之神經學檢查，以免遺漏了先天性肌病變譬如中心蕊肌病之診斷，并希望能籍此減少此類病患在麻醉時產生惡性高熱症之危險。

關鍵字

中心蕊肌病；脊柱側彎；先天性肌病變；惡性高熱症

並列摘要

A 13 year-old girl with scoliosis and central core disease is reported. She was noted to have mild psychomotor developmental delay since early infancy. Scoliosis with minimal muscle weakness was noted at about five years old. The neurological examination disclosed absent knee jerk. The spine MRI showed no significant finding. The serum CK revealed 518 U/L. The muscle biopsy obtained from the quadriceps femoris muscle showed Type 1 fiber atrophy and predominance, as is commonly seen in congenital myopathies. Under nicotinamide adenine dinucleotide dehydrogenase (NADH) and succinate dehydrogenase (SDH) stains, core structures were identified and the diagnosis of central core disease (CCD) was made. Since kyphoscoliosis usually becomes prominent as muscle weakness progresses to loss of ambulation in other myopathies, the disproportionate spinal involvement in central core disease appears to be a striking feature. We suggest that all patients with idiopathic scoliosis deserve a thorough neurological evaluation if congenital myopathies are suspected. Muscle biopsy should also be recommended for a confirmatory diagnosis even if only minimal muscle weakness present. Besides, early detection of CCD helps us to identify the population who are at a higher risk for malignant hyperthermia.

並列關鍵字

central core disease ； scoliosis ； congenital myopathy ； malignant hyperthermia

國際替代計量

Central Core Disease Associated with Scoliosis Report of One Case

全文下載

主題瀏覽