Braga S E, Gerber A, Meier C, Weiersmüller A, Zimmermann A, Herrmann U, Liechti S, Moser H
Department of Paediatrics, University of Bern, Switzerland.
Eur J Pediatr. 1990 Dec;150(2):132-5. doi: 10.1007/BF02072056.
Severe neonatal centronuclear myopathy is inherited as an X-linked condition characterized by primary asphyxia, extreme muscular hypotonia and absent spontaneous movements. We report seven cases from three families to point out the importance of diagnosis with regard to prognosis, outcome and genetic counselling. In hypotonic diseases, analysis of cerebrospinal fluid, electromyography, nerve conduction velocity creatine kinase and a skin biopsy for fibroblast cultures for metabolic investigations are usually carried out. Needle muscle biopsy is an additional valuable investigation to establish diagnosis. In all our patients we found an increased number of centrally located nuclei with perinuclear halos confirming the diagnosis of centronuclear myopathy. The diagnosis of this disorder will become of greater importance as soon as carrier detection and prenatal diagnosis by DNA-technology are routinely available.
严重的新生儿中央核性肌病是一种X连锁遗传病，其特征为原发性窒息、极度肌张力减退和无自主运动。我们报告来自三个家庭的7例病例，以指出诊断对于预后、结局和遗传咨询的重要性。在肌张力减退疾病中，通常会进行脑脊液分析、肌电图、神经传导速度、肌酸激酶检测以及用于代谢研究的成纤维细胞培养的皮肤活检。肌肉针吸活检是确立诊断的另一项有价值的检查。在我们所有患者中，我们发现中央核数量增加且核周有晕，从而确诊为中央核性肌病。一旦通过DNA技术进行携带者检测和产前诊断成为常规手段，这种疾病的诊断将变得更加重要。
