https://scholars.lib.ntu.edu.tw/handle/123456789/628344
Title: | Congenital myotonic dystrophy: report of one case | Authors: | Liao, Yi-Hsin Sue, Whey-Chen Jang, Da-Ru Soong, Bing-Wen STEVEN SHINN-FORNG PENG Chou, Gwo-Su |
Keywords: | Congenital myotonic dystrophy | Developmental delay | DMPK gene | Issue Date: | 2003 | Journal Volume: | 44 | Journal Issue: | 3 | Source: | Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi | Abstract: | We report a laboratory-confirmed pediatric case of congenital myotonic dystrophy (CMD) in Taiwan. A 5-year-old girl presented in our neurological clinic with the chief complaints of developmental delay and slowness in learning. Clinical examination, intelligence tests, and developmental examinations revealed myopathic facial weakness, passivity and delayed cognitive development. Past history review showed neonatal hypotonia, feeding difficulty with cyanosis, and poor activity. Neonatal studies only revealed subgaleal hematoma and subarachnoid hemorrhage with mild degree right side intraventricular hemorrhage. Current neurological examination disclosed percussion myotonia and myotonia as poor muscle relaxation after forceful handgrip. CMD was confirmed by electromyography study and DNA analysis. The patient's mother, though minimally affected, had similar laboratory results. CMD affects children in both motor and cognitive function; the diagnosis should be entertained in developmentally delayed children with subtle neurological signs, even without strong family history. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/628344 | ISSN: | 1608-8115 |
Appears in Collections: | 醫學院附設醫院 (臺大醫院) |
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