Botulinum toxin in Hallervorden–spatz syndrome

• Published in: Toxicon (Oxford) 2008-06, Vol.51, p.24-24
• Main Authors: Márcio Neves, Cardoso, Joana, Damásio, Marina, Magalhães
• Format: Article
• Language: English
• Subjects: Botulinum toxin; Hallervorden–Spatz Syndrome
• ISSN: 0041-0101; 1879-3150
• DOI: 10.1016/j.toxicon.2008.04.074

Hallervorden–Spatz Syndrome (HSS) is a rare autosomal-recessive pantothenate kinase-associated neurodegenerative disorder. The clinical phenotype includes dystonia and parkinsonism, among other neurological manifestations. Pharmacotherapies for dystonia, although sometimes efficacious, may have a transient effect. There are few reports regarding specific uses of Botulinum Toxin (BT) in management of these patients. We present two cases, with definitive HSS, treated with BT. (1) A 17-year old male, with neuropsychiatric symptoms beginning at 9 years. At 14 years, he developed bilateral hand dystonia that initially improved with medical treatment. It progressed to a generalised dystonia, with oromandibular, cervical, axial and lower limb involvement. Cervical, oromandibular and limb dystonia was treated with BT with a temporary good response. (2) A 28-year-old female, who presented with dystonia and parkinsonism. Dystonia became worse and started to involve craniofacial (blepharospasm and oromandibular dystonia) and limb muscles. She has been treated with BT for more than 10 years with good response. BT treatment has been enough to control dystonia with easier chewing and the disappearance of a gum lesion that had developed. Conclusion: Although there is no specific treatment for HSS, there are disabling symptoms that may be ameliorated by BT applications, improving the quality of life for patients and their caregivers.