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Palatal myoclonus in Krabbe disease.

Abstract
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.
AuthorsH Yamanouchi, H Kasai, N Sakuragawa, T Kurokawa
JournalBrain & development (Brain Dev) Vol. 13 Issue 5 Pg. 355-8 (Sep 1991) ISSN: 0387-7604 [Print] Netherlands
PMID1785660 (Publication Type: Case Reports, Journal Article)
Topics
  • Brain (pathology)
  • Electrodiagnosis
  • Female
  • Humans
  • Infant
  • Leukodystrophy, Globoid Cell (complications)
  • Magnetic Resonance Imaging
  • Myoclonus (diagnosis, etiology, physiopathology)
  • Palatal Muscles (physiopathology)

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