Tremor and deep brain nuclei hyperintensities in Kabuki syndrome.

TitleTremor and deep brain nuclei hyperintensities in Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2010
AuthorsGrunseich C, Fishbein TM, Berkowitz F, Shamim EA
JournalPediatric neurology
Date Published2010 Aug

Kabuki syndrome is a rare congenitali disorder first described in 1981. Case reports indicate multiple congenital abnormalities: skeletal anomalies, cognitive impairment, characteristic facial appearance, and peculiar dermatoglyphic patterns. We describe a patient with Kabuki syndrome who presented with physiologic tremor in her distali upper extremities. Cranial magnetic resonance imaging revealed symmetric T(2)-hyperintense lesions with mildly restricted diffusion in the lentiform nuclei, red nuclei, and dentate nuclei bilaterally. Although multiple abnormalities of the central nervous system were reported previously in Kabuki syndrome, this patient is the first, to the best of our knowledge, with the unique findings that we observed.

Alternate JournalPediatr. Neurol.
Citation Key409