Tsai C H, Huang W S, Tsai F J, Lee C C, Chen S S
Department of Pediatrics, China Medical College Hospital, Taichung.
J Formos Med Assoc. 1996 Feb;95(2):153-6.
We report a baby boy, the third child of a nonconsanguineous couple, with congenital myotubular myopathy. At birth, he had generalized hypotonia and respiratory distress. On physical examination, an elongated apathetic face, high-arched palate, bilateral ptosis, funnel chest, frog-leg posture, little spontaneous movement of the limbs and areflexia were observed. A chest x-ray revealed thin ribs and clavicles. The infant died 54 days after birth despite intensive management. The mother, a healthy 32-year-old female, displayed myotubes on muscle biopsy which suggested an X-linked recessive inheritance pattern for myotubular myopathy. This report illustrates the importance of taking a detailed family history as well as a muscle biopsy in the diagnosis of X-linked recessive myotubular myopathy.
我们报告一例患有先天性肌管性肌病的男婴，他是非近亲结婚夫妇的第三个孩子。出生时，他全身肌张力减退并伴有呼吸窘迫。体格检查发现，他面部狭长且神情淡漠，腭弓高，双侧上睑下垂，漏斗胸，呈蛙腿姿势，四肢几乎无自主运动且无反射。胸部X线显示肋骨和锁骨纤细。尽管进行了积极治疗，该婴儿仍在出生54天后死亡。母亲是一名健康的32岁女性，肌肉活检显示有肌管，提示肌管性肌病为X连锁隐性遗传模式。本报告说明了详细家族史及肌肉活检在X连锁隐性肌管性肌病诊断中的重要性。
