Mori H, Sato K, Hirasawa E, Kondo T, Mizuno Y
Department of Neurology, Juntendo University School of Medicine, Tokyo.
No To Shinkei. 1996 Aug;48(8):763-71.
We report a right-handed 22-year-old man with muscle atrophy. His prenatal course and the delivery were uneventful, but he walked unsupported at 15 months of the age for the first time. He was apparently well but he was in the slowest group in running in schools. He noted a difficulty in climbing up stairs at 19 years of the age, and he was admitted to our hospital for the work up when he was 22-year-old. His family history and past medical history were unremarkable. On admission, he was a slender and tall guy in no acute distress. General physical examination was unremarkable, but he had high-arched palate and high-arched feet. On neurologic examination, mental status and higher cerebral functions were normal. Cranial nerves appeared intact, however, he had a thin and long face without weakness. The sternocleidomastoid muscles appeared somewhat atrophic and were moderately weak. He was able to walk normally, however, he needed a handrail when he went up stairs. Thigh muscles and triceps surae muscles were atrophic and slightly weak (4/ 5). Muscle tone was hypotonic and no deep tendon reflexes were elicited except for jaw jerk. No ataxia or involuntary movements were seen; sensation was intact. Laboratory examination was unremarkable except for slight increase in serum CK to 145 IU/L. An ischemic forearm exercise test revealed slight elevation of lactate and pyruvate in that base line levels were 5.4 mg/dl and 0.52 mg/dl, respectively, which rose to 11.4 mg/dl and 0.85 mg/dl, respectively, 20 minutes after the initiation of the ischemic exercise. The base line serum ammonia was 102.5 micrograms/dl which decreased to 64.8 micrograms/dl at 20 minutes. A diagnostic biopsy was performed from the left quadriceps femoris muscle. The patient was discussed in a neurologic CPC, and the chief discussant arrived at the conclusion that the patient had nemaline myopathy. Opinions were divided between nemaline myopathy and debranching enzyme deficiency. The results of the ischemic exercise was not typical of glycogen storage disease, but elevations of lactate and pyruvate did not appear to be sufficient to be interpreted as normal. Histologic examination of the biopsied specimen revealed marked type I fiber predominance and abundant nemaline rods. Cytoplasmic bodies were also seen. Histologic characteristics were consistent with the diagnosis of nemaline myopathy. The possibility of concomitant presence of AMP deaminase deficiency was discussed, because serum ammonia did not elevate in the ischemic exercise test.
我们报告了一名22岁的右利手男性，患有肌肉萎缩。他的产前过程和分娩均正常，但他在15个月大时首次能够独立行走。他看起来健康，但在学校跑步时属于速度最慢的一组。他在19岁时注意到爬楼梯有困难，22岁时因进一步检查而入住我院。他的家族史和既往病史均无异常。入院时，他身材瘦高，无急性痛苦表现。全身体格检查无异常，但他有高拱腭和高弓足。神经系统检查显示，精神状态和高级脑功能正常。颅神经似乎完好无损，然而，他脸瘦长且无肌无力。胸锁乳突肌略显萎缩，肌力中度减弱。他能够正常行走，但上楼梯时需要扶手。大腿肌肉和腓肠肌萎缩，肌力稍弱（4/5级）。肌张力减低，除下颌反射外未引出深腱反射。未见共济失调或不自主运动；感觉正常。实验室检查除血清肌酸激酶轻度升高至145 IU/L外无异常。缺血性前臂运动试验显示乳酸和丙酮酸略有升高，基线水平分别为5.4 mg/dl和0.52 mg/dl，缺血运动开始20分钟后分别升至11.4 mg/dl和0.85 mg/dl。基线血清氨为102.5微克/dl，20分钟时降至64.8微克/dl。对左股四头肌进行了诊断性活检。该患者在神经科病例讨论会上进行了讨论，主要讨论者得出结论，该患者患有杆状肌病。对于杆状肌病和脱支酶缺乏症存在不同意见。缺血运动试验结果并非糖原贮积病的典型表现，但乳酸和丙酮酸的升高似乎不足以解释为正常。活检标本的组织学检查显示I型纤维明显占优势，有大量杆状体。还可见胞质体。组织学特征与杆状肌病的诊断一致。由于缺血运动试验中血清氨未升高，因此讨论了是否同时存在AMP脱氨酶缺乏的可能性。
