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請使用永久網址來引用或連結此文件:
http://ir.cmu.edu.tw/ir/handle/310903500/28939
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| 題名: | Bilateral diffuse hypoperfusion of posterior temporoparietals and occipitals in Tc-99m HMPAO brain SPECT in a patient with noncommunicating hydrocephalus |
| 作者: | Shih, WJ;Tsai, CH;Stipp, V;Lu, G |
| 貢獻者: | 附設醫院;UNIV KENTUCKY,MED CTR,LEXINGTON,KY;CHINA MED COLL HOSP,TAICHUNG,TAIWAN;PEPING UNION MED COLL HOSP,BEIJING,PEOPLES R CHINA |
| 日期: | 1996 |
| 上傳時間: | 2010-09-24 14:16:26 (UTC+8) |
| 出版者: | LIPPINCOTT-RAVEN PUBL |
| 摘要: | 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. |
| 關聯: | CLINICAL NUCLEAR MEDICINE 21(3):252-255 |
| 顯示於類別: | [台中附設醫院] 期刊論文
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