多小核疾病：来自科威特的5例患者报告。
Multi-minicore disease: a report of 5 patients from Kuwait.
作者信息
Al-Jumah E S, Habeeb Y K, Al-Bloushi M A, Moosa A
机构信息
Department of Paediatric Neurology, Mubarak Al-Kabeer Hospital, Safat, Kuwait.
出版信息
Med Princ Pract. 2005 Sep-Oct;14(5):349-53. doi: 10.1159/000086934.
OBJECTIVE
To describe the characteristic clinical features and the diagnostic findings in muscle histochemistry of multi-minicore disease in 5 children from two unrelated families in Kuwait.
CLINICAL PRESENTATION
The 5 children who presented with muscle weakness, 2 siblings from family 1 and the remaining 3 from the other (family 2), represent the classical type of multi-minicore disease; however, the two families differ in the course of the disease. Family 1 had the non-progressive form while family 2 had progressive weakness with respiratory complications and scoliosis. The diagnosis was confirmed in the index patients by muscle histochemistry, which demonstrated the typical minicores, which are devoid of oxidative enzyme activity.
CONCLUSION
Both families represent the classical form, however, clinical variability in the course of the illness was demonstrated in these two families.
目的
描述科威特两个无血缘关系家庭中5名儿童的多微小核心病的特征性临床特征及肌肉组织化学诊断结果。
临床表现
5名出现肌无力症状的儿童，其中来自家庭1的2名是兄弟姐妹，另外3名来自另一个家庭（家庭2），均表现为典型的多微小核心病类型；然而，两个家庭的疾病病程有所不同。家庭1为非进行性形式，而家庭2则有进行性肌无力并伴有呼吸并发症和脊柱侧弯。通过肌肉组织化学检查在索引患者中确诊，该检查显示出典型的微小核心，其缺乏氧化酶活性。
结论
两个家庭均表现为典型形式，然而，这两个家庭在疾病病程中表现出临床变异性。
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