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Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl‐CoA Dehydrogenase Deficiency ( GA 1): Report of Two Cases
Author(s) -
Ghatan Saadi,
Kokoszka Malgosia A.,
Ranney Anne M.,
Strauss Kevin A.
Publication year - 2016
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12278
Subject(s) - dystonia , medicine , anesthesia , baclofen , enteral administration , pediatrics , surgery , parenteral nutrition , psychiatry , receptor , agonist
Two individuals with intractable generalized dystonia secondary to glutaric aciduria type 1 ( GA 1) were treated with continuous intraventricular baclofen ( IVB ) infusion. On IVB of 220 μg/day, one 10‐year‐old girl had an 85% reduction in dystonia, from Barry‐Albright Dystonia Scale ( BADS ) score 30.7 to 4.5 (maximum score: 32) at 30 postoperative months. Her enteral dystonia medications were reduced >60%, and she discontinued medications for pain, anxiety, and depression. A second GA 1 patient, age 23, experienced a more modest 18% reduction in dystonia ( BADS decrease from 29.7 to 24.3) on IVB of 1,665 μg/day at 14 postoperative months. He substantially reduced his enteral dystonia medications and reported meaningful pain relief. These cases demonstrate that IVB may be a palliative option in the intractable dystonia of GA 1. Our provisional observations suggest that IVB may be more beneficial in younger GA 1 patients.