[Wilson's disease; diagnosis with the aid of magnetic resonance tomography].
In a 21-year-old woman with a smaller and sloppy handwriting, drooling especially when stooping, sporadic choking, clumsiness, and frequent stumbling, Wilson's disease was diagnosed. The medical history disclosed a short period of haemolytic anaemia with transient hepatic failure, and irregular menstruation periods with infertility. On examination there were no signs of liver or spleen enlargement. She was slow, had an expressionless face and mild dysarthria, and slight impairment of the coordination of the limbs. Magnetic resonance imaging of the brain showed bilateral hyperintensive lesions of the basal ganglia on T2W images. Zinc therapy induced a good biochemical response and there was also some clinical improvement. Linkage analysis within the family identified one other asymptomatic homozygotically affected sister. A diagnostic delay occurs frequently due to relative unfamiliarity with this rare disease and due to its variable clinical expression.
van den Berg
J S
JS
Afd. Neurologie, Academisch Medisch Centrum, Amsterdam.
Hoogenraad
T U
TU
Duyn
J A
JA
Verbeeten
B
B
Aalfs
C M
CM
de Visser
M
M
D000328:Adult; D001921:Brain / Q000473:pathology*; D005260:Female; D006580:Genetic Carrier Screening; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D013431:Sulfates / Q000627:therapeutic use; D017967:Zinc Compounds / Q000627:therapeutic use; D019287:Zinc Sulfate
D013431:Sulfates; D017967:Zinc Compounds; D019287:Zinc Sulfate
Ziekte van Wilson; ontmaskering met behulp van kernspinresonantie-tomografie.