Serratrice G, Pellissier J F, Pouget J, Saint-Jean J C
Presse Med. 1987 Feb 21;16(6):299-302.
Three new cases of X chromosome-linked spinal muscular atrophy associated with gynaecomastia are reported. They were concordant with the description given in about 15 published reports: predominantly proximal muscle weakness and atrophy, fasciculations in the face and tongue, areflexia and slowly progressive course. In two of our patients nerve biopsy showed axonal lesions. All these patients had gynaecomastia. The relationship between the neurological and endocrine syndromes is discussed, but no firm conclusion can yet be drawn.
报告了3例与男性乳房发育相关的X染色体连锁型脊髓性肌萎缩症新病例。这些病例与约15篇已发表报告中的描述一致:主要为近端肌肉无力和萎缩、面部和舌部肌束震颤、无反射以及病程缓慢进展。在我们的2例患者中,神经活检显示有轴突病变。所有这些患者均有男性乳房发育。文中讨论了神经综合征与内分泌综合征之间的关系,但尚未得出确凿结论。