Progressive dystonia in a child with chromosome 18p deletion, treated withintrathecal baclofen

We report a case of dystonia with a partial deletion of the short arm Cp) o f chromosome 18 and androgen insensitivity. Neurologic findings in the 18p syndrome are reported to include mental retardation, seizures, incoordinati on, tremor, and chorea. A 15-year-old girl with a denovo 18p deletion [kary otype 46, XY, del (183(p11.1)] developed progressive asymmetric dystonia. S he had oromotor apraxia and partial expressive aphasia since childhood, and she was able to partially communicate through elementary sign language. At the age of 15 years, she developed subacute and progressive choreic moveme nts of the right arm, severe dystonic posturing of the left arm, and spasti c dystonia in both legs. Her response to parenteral or oral benzodiazepines , oral trihexyphenidyl, benztropine mesylate, baclofen, and L-dopa were bri ef and inadequate. The response to intrathecal baclofen has been sustained over 18 months. In all Likelihood, the 18p deletion syndrome affecting this patient is significant in the pathogenesis of her acquired dystonia. Chron ic intrathecal baclofen therapy via pump has been effective in this case an d should be considered as a treatment modality in carefully selected patien ts with dystonia.