Tremor and deep brain nuclei hyperintensities in 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.
Grunseich
Christopher
C
Department of Neurology, Georgetown University Hospital, Washington, DC, USA.
Fishbein
Thomas M
TM
Berkowitz
Frank
F
Shamim
Ejaz A
EA
D000015:Abnormalities, Multiple / Q000473:pathology; D000273:Adipose Tissue / Q000473:pathology; D000328:Adult; D001921:Brain / Q000473:pathology*; D005145:Face / Q000002:abnormalities / Q000473:pathology; D006402:Hematologic Diseases / Q000150:complications / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D012640:Seizures / Q000209:etiology* / Q000473:pathology; D015837:Vestibular Diseases / Q000150:complications / Q000473:pathology