Bilateral pallidotomy for severe dystonia in an 18-month-old child with glutaric aciduria.
Glutaric aciduria type 1 is an inborn error of metabolism due to deficiency of glutaryl-CoA dehydrogenase. This disorder mainly affects children. The majority of patients develop a dystonic-dyskinetic syndrome. The dystonia is painful and can cause significant disability. This report documents an 18-month-old child, the youngest reported, who underwent pallidotomy for disabling dystonia. The surgery improved dystonic symptoms, especially pain in this child with minor complications related to the procedure. Pallidotomy is a reasonable option for children with dystonic symptoms secondary to glutaric aciduria.
National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Goran
G
Rakocevic
Kelly E
KE
Lyons
Steven B
SB
Wilkinson
John W
JW
Overman
Rajesh
R
Pahwa
D020821:Dystonic Disorders / Q000175:diagnosis / Q000378:metabolism* / Q000601:surgery*; D005917:Globus Pallidus / Q000601:surgery*; D005977:Glutarates / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000378:metabolism / Q000601:surgery
D005977:Glutarates; C035736:glutaric acid