14800-DvRappard

63 Intrathecal baclofen treatment: metachromatic leukodystrophy versus spastic cerebral palsy 4 WHAT THIS PAPER ADDS • ITB is a feasible and safe therapy to improve comfort and daily care in children and youth with MLD. • Course of ITB treatment in the first 6 months is mostly comparable between MLD and SCP. Metachromatic leukodystrophy (MLD, OMIM 250100) is an autosomal recessive lysosomal disorder leading to progressive neurological decline in a previously healthy child or young adult. Increasing motor impairments such as spasticity and dyskinesia are challenging to treat and often lead to limitations in daily care and comfort. 1-3 MLD is divided into three clinical subtypes, based on the age of onset: The late-infantile form starts before 30months of age, the juvenile formbefore 16 years and the adult form thereafter. First symptoms and signs in younger patients consist of motor deterioration, older patients usually present with cognitive and psychiatric symptoms. 4 Currently, there is no curative treatment for MLD. Hematopoietic cell transplantation (HCT) has led to encouraging results, once performed in an early stage of the disease, especially for juvenile and adult patients. 5,6 First results for a gene-therapy approach are promising. 7 In the many patients for whom the diagnosis comes too late and who are are no longer candidates for HCT, relentless disease progression is inevitable. Decline in level of mobility can be classified by an adapted gross motor function classification (GMFC- MLD), 8 based on the grossmotor function classification system (GMFCS) for childrenwith cerebral palsy. 9 All juvenile MLD patients develop spasticity and often also a dyskinetic movement disorder, young patients rapidly, older patients more slowly. Sometimes, demyelinating peripheral neuropathy becomes so overwhelming as to effectively counteract spasticity. However, in our clinical experience, this is not frequent, certainly not in patients with the juvenile and adult forms. Spasticity, dyskinesia and pain caused by these movement disorders can limit optimal daily care, transfers and sitting. The first step in treatment is oral spasmolytic medication as baclofen, 10,11 a GABA- agonist that inhibits neural transmission at the level of the spinal cord, thereby leading to muscle relaxation. 12 When side effects occur (>10%) and problems persist, intrathecal baclofen therapy (ITB) is an alternative treatment. It delivers the baclofen locally to the