López-Domínguez J M, Lara C, Casado J L, Borrero J J, Blanco A, Robledo A, Díaz-Espejo C
Sección de Neurología, Hospital Juan Ramón Jiménez, Huelva, España.
Rev Neurol. 1997 Aug;25(144):1215-7.
Centro-nuclear myopathy is a congenital myopathy characterized by the presence of central nuclei on muscle biopsy. Three clinical forms have been distinguished. Classification depends on the type inherited, age of onset and degree of muscle involvement.
We describe the case of a female patient in whom the diagnosis of centro-nuclear myopathy was made at the age of 53. The patient had not been studied previously, but was sent to us by the Department of Anaesthesia. The clinical features had first appeared in infancy. There was no family history of this disorder. Apparently this was a sporadic case.
In the differential diagnosis of adult patients with girdle paresthesias centro-nuclear myopathy should be included. This unusual muscle disorder may be need to be considered if anaesthesia is required.
中央核性肌病是一种先天性肌病，其特征是肌肉活检时存在中央核。已区分出三种临床类型。分类取决于遗传类型、发病年龄和肌肉受累程度。
我们描述了一名53岁女性患者的病例，该患者在53岁时被诊断为中央核性肌病。该患者此前未接受过检查，但由麻醉科转至我们这里。临床特征最早出现在婴儿期。该疾病无家族史。显然这是一例散发病例。
在成年患者出现肢体带感觉异常的鉴别诊断中应考虑中央核性肌病。如果需要进行麻醉，可能需要考虑这种不常见的肌肉疾病。
