Tremor and deep brain nuclei hyperintensities in Kabuki syndrome.

[kabuki syndrome]

Kabuki syndrome is a rare congenital 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 distal 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 .