Yamanouchi H, Kasai H, Sakuragawa N, Kurokawa T
Division of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, Tokyo.
Brain Dev. 1991 Sep;13(5):355-8. doi: 10.1016/s0387-7604(12)80133-1.
A seven-year-old girl with Krabbe disease presenting palatal myoclonus only when awake is reported. The patient was diagnosed as having Krabbe disease enzymatically at the age of eleven months. She developed rhythmical contractions of the soft palate, pharynx, larynx, lips and tongue at two years. The surface electromyography showed rhythmical 2 Hz electrical activities. The MRI disclosed markedly attenuated intensity in the midbrain, pons and medulla oblongata on T2-weighted images. Palatal myoclonus was not controlled by carbamazepine in therapeutic doses, but disappeared when the patient was asleep. This is the first reported case of Krabbe disease with palatal myoclonus.
报告了一名七岁患克拉伯病的女孩，仅在清醒时出现腭肌阵挛。该患者在11个月大时通过酶学诊断为克拉伯病。她在两岁时出现软腭、咽、喉、唇和舌的节律性收缩。表面肌电图显示有节律的2赫兹电活动。磁共振成像（MRI）在T2加权图像上显示中脑、脑桥和延髓的信号强度明显减弱。治疗剂量的卡马西平未能控制腭肌阵挛，但患者入睡时阵挛消失。这是首例报告的伴有腭肌阵挛的克拉伯病病例。
