Treatment of Pantothenate-kinase neurodegeneration with baclofen, botulinum toxin, and deferiprone: A case report

Abstract

Abstract Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder characterized by progressive motor symptoms such as dystonia and spasticity. Classical PKAN is the most common subtype of neurodegeneration with brain iron accumulation (NBIA). There is no current established treatment for PKAN. Baclofen and botulinum toxin have been reported to improve motor symptoms and ease care in these patients. Deferiprone is a well-tolerated iron chelator and has been shown effective in reducing the brain iron accumulation. We report a seven-year-old boy who presented to our ward with spastic gait and extrapyramidal signs. Brain MRI was performed which showed features of neurodegeneration secondary to brain iron accumulation with specific appearance of eye-of-the-tiger sign. Genetic testing was positive for a homozygous mutation in PKAN2 and the diagnosis of early stage classical PKAN was made. The case report highlights the potent efficacy of baclofen, botulinum toxin, and deferiprone in slowing down the disease progression at an early stage and improving the severity of symptoms.