Treatment of classic pantothenate kinase-associated neurodegeneration with deferiprone and intrathecal baclofen.

Abstract

Neurodegeneration with brain iron accumulation (NBIA) describes a heterogeneous family of diseases characterized by high brain iron, particularly in the basal ganglia. The most common manifestation of childhood NBIA is classic pantothenate kinase-associated neurodegeneration (PKAN), a severe, progressive type of autosomal recessive neuroaxonal dystrophy characterized by early onset of symptoms (as opposed to atypical PKAN, with an average age of onset of 14 yrs). There is currently no established therapy for the disease. Intrathecal baclofen has been reported to improve ease of care and dystonia in patients with PKAN. Deferiprone, an iron chelator, has been shown to be safe and tolerable in patients with PKAN as well as effective in reducing brain iron accumulation, as measured by magnetic resonance imaging. This case report highlights the potency of combining intrathecal baclofen and oral deferiprone in a patient with classic PKAN. Although treatment with deferiprone alone was not attempted, this combination therapy seems to be more efficacious than treatment with only intrathecal baclofen.

• Authors: Napala R Pratini, Nancy Sweeters, Elliott Vichinsky, Jacob A Neufeld
• Journal: American journal of physical medicine & rehabilitation (Am J Phys Med Rehabil) Vol. 92 Issue 8 Pg. 728-33 (Aug 2013) ISSN: 1537-7385 [Electronic] United States
• PMID: 23370589 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)

Chemical References

• Iron Chelating Agents
• Muscle Relaxants, Central
• Pyridones
• Deferiprone
• Baclofen

Topics

• Administration, Oral
• Adolescent
• Baclofen (therapeutic use)
• Deferiprone
• Drug Therapy, Combination
• Humans
• Injections, Spinal
• Iron Chelating Agents (therapeutic use)
• Male
• Muscle Relaxants, Central (therapeutic use)
• Pantothenate Kinase-Associated Neurodegeneration (drug therapy)
• Pyridones (therapeutic use)