Two cases of autosomal recessive generalized dystonia in childhood: 5 year follow-up and bilateral globus pallidus stimulation results.
We report two brothers with an unknown form of early-onset familiar dystonia. Characteristic clinical features are (1) childhood-onset; (2) extrapyramidal motor symptoms; (3) dysarthria; and (4) mental retardation. Additional findings include loss of D(2)-receptors in both basal ganglia and hypoplasia of the cerebellar vermis with dilatation of the fourth ventricle and cisterna magna. There seems to be a progressive and non-progressive form of this clinical entity. Dystonic symptoms of the progressive form that occurred in one of the brothers were alleviated dramatically by bilateral internal globus pallidus (Gpi) stimulation, and the improvement has lasted now for 5 years.
Lenders
Mathieu W
MW
Department of Neurosurgery, Medisch Spectrum Twente Hospital Group, P.O. Box 50000, NL-7500 KA Enschede, The Netherlands.
Vergouwen
Mervyn D
MD
Hageman
Gerard
G
van der Hoek
Joffrey A
JA
Ippel
Elly F
EF
Jansen Steur
Ernst N
EN
Buschman
Hendrik P
HP
Hariz
Marwan
M
D001480:Basal Ganglia Diseases / Q000209:etiology; D002648:Child; D002946:Cisterna Magna / Q000378:metabolism / Q000473:pathology; D004401:Dysarthria / Q000209:etiology; D004421:Dystonia / Q000151:congenital / Q000235:genetics* / Q000628:therapy*; D004599:Electric Stimulation Therapy; D004567:Electrodes, Implanted; D020546:Fourth Ventricle / Q000378:metabolism / Q000473:pathology; D005808:Genes, Recessive; D005917:Globus Pallidus / Q000502:physiology*; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D017448:Receptors, Dopamine D2 / Q000378:metabolism
D017448:Receptors, Dopamine D2