Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui
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Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi · Jan 1996
Case ReportsOculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation.
We report a 10-month-old male infant with Type 2 Gaucher's disease. In addition to gradual arrest of neurological development, laryngospasm, opisthotonus, and limb rigidity, he presented characteristic oculomotor apraxia. History taking revealed that he had had abnormal horizontal gaze and had to turn his head to follow an object instead of moving the eyes alone. ⋯ To our knowledge, the T1448C gene frequency of Chinese Gaucher's disease is high. Thus, the ARMS screening method is applicable for further genetic diagnosis of Chinese Gaucher patients. Finally, this successful genetic diagnosis makes it possible in the future to perform prenatal diagnosis.