The Palliative Use of Intrathecal Baclofen in Niemann-Pick Disease Type C.

Niemann-Pick disease type C is a rare progressive genetic disorder that leads to the abnormal accumulation of lipids within various tissues of the body, including brain tissue and liver. There is a rapid progression of the disease, resulting in severe disability in only a few years after the first symptoms, and survival is not much longer. Spasticity, dystonia, and chronic pain are common findings that severely impact quality of life in these patients. Analgesic management with traditional pain medications is not always effective, and the risk for secondary effects in medically complex patients is high. Liver function is also a limiting factor in these patients. This is a case report of a boy with advanced Niemann-Pick disease type C with developmental regression, cataplexia, and seizures. His severe spasticity made positioning and care difficult, and intense pain required multiple hospitalizations. He had unsuccessfully trialed multiple drugs. An intrathecal baclofen pump was placed without surgical complications and resulted in positive clinical effects. Baclofen pumps have classically been used for spasticity management in adults and children with nonprogressive diseases such as cerebral palsy or spinal cord injury with relatively long life expectancies. In adults, they have been used in patients with multiple sclerosis; however, use in pediatric neurodegenerative diseases has scarcely been reported. The use of intrathecal baclofen in palliative settings might provide an additional resource to provide comfort and quality of life for children with neurodegenerative diseases not only at end-of-life stages but also earlier on.

Robotic gait training in an adult with cerebral palsy: a case report.

Improved treatments and rehabilitation for cerebral palsy (CP) have led to an increased number of children with CP surviving into adulthood. Adults with CP show an increased prevalence of pain, fatigue, and musculoskeletal dysfunction, leading to a decrease in ambulatory function. Recent work has demonstrated the potential benefits of intensive task-specific gait training, including the use of robotic-driven gait orthoses, on motor recovery in children with CP. In contrast, reports of interventions aimed at improving motor function in adults with CP are lacking. This case study reports on the outcomes of a 6-week intervention of robotic-assisted gait training administered to a 52-year-old woman with right hemiplegia attributable to CP. Improvements were noted in balance, walking speed, and time to negotiate stairs at posttraining and follow-up. Gait analysis showed an increase in step length and a reduction in the period of double support. In conclusion, robotic-assisted gait training may be beneficial in enhancing locomotor function in adults with CP.