Ann Rehabil Med.  2018 Apr;42(2):363-367. 10.5535/arm.2018.42.2.363.

Botulinum Toxin-A Injection in the Treatment of Spasticity in a Infantile-Onset Neurodegeneration With Brain Iron Accumulation: A Case Report

• Do HK
• Jo GY
• Kwon JK
• Kim WJ

• KMID: 2432209
• DOI: http://doi.org/10.5535/arm.2018.42.2.363

Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disorder characterized by iron accumulation in the globus pallidus (GP) of the brain (neurodegeneration with brain iron accumulation [NBIA]), which is characterized by dystonia and spasticity resulting in postural difficulties. A 33-month-old boy was admitted with a pronounced gait disturbance. Marked hypertonicity in the patient's both calf muscles was noted, resulting in waddling with repeated slip-falls. NBIA was suspected by high T2 intensity in the GP on brain MRI, then it was confirmed by detecting PANK2 mutation. Botulinum toxin-A injection was administered to both calf muscles. After 2 weeks, a decrease in spasticity and an increase in range of motion were observed, and consequently, an increase in the patient's gait stability with both heels touching the ground, enabling him to walk straight independently. A definitive treatment for NBIA has not been established, and a symptomatic therapy is currently the mainstay of treatment in this case. This is the first case report of botulinum toxin injection for treatment of gait disturbance caused by spasticity in an infantile-onset PKAN.

Keyword

Neurodegeneration with brain iron accumulation (NBIA); Pantothenate kinase-associated neurodegeneration (PKAN); PANK2

MeSH Terms

Botulinum Toxins
Brain*
Child, Preschool
Dystonia
Gait
Globus Pallidus
Heel
Humans
Iron*
Magnetic Resonance Imaging
Male
Muscle Spasticity*
Muscles
Neurodegenerative Diseases
Pantothenate Kinase-Associated Neurodegeneration
Range of Motion, Articular
Botulinum Toxins
Iron

Figure

• 

  Fig. 1 T2-weighted brain magnetic resonance imaging. Arrows indicate bilateral T2 high signal intensity in anteromedial portion of both globus pallidus.

Reference

1. Gelman N, Gorell JM, Barker PB, Savage RM, Spickler EM, Windham JP, et al. MR imaging of human brain at 3.0 T: preliminary report on transverse relaxation rates and relation to estimated iron content. Radiology. 1999; 210:759–767. PMID: 10207479.

2. Kurian MA, McNeill A, Lin JP, Maher ER. Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). Dev Med Child Neurol. 2011; 53:394–404. PMID: 21480873.

3. Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet. 2009; 46:73–80. PMID: 18981035.

4. Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord. 2012; 27:42–53. PMID: 22031173.

5. Gregory A, Hayflick SJ. Pantothenate kinase-associated neurodegeneration. In : Adam MP, Ardinger HH, Pagon RA, Wallace SE, editors. GeneReviews. Seattle: University of Washington;1993.

6. Graham HK, Aoki KR, Autti-Ramo I, Boyd RN, Delgado MR, Gaebler-Spira DJ, et al. Recommendations for the use of botulinum toxin type A in the management of cerebral palsy. Gait Posture. 2000; 11:67–79. PMID: 10664488.

7. Egan RA, Weleber RG, Hogarth P, Gregory A, Coryell J, Westaway SK, et al. Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). Am J Ophthalmol. 2005; 140:267–274. PMID: 16023068.

8. Seo JH, Song SK, Lee PH. A novel PANK2 mutation in a patient with atypical pantothenate-kinase-associated neurodegeneration presenting with adult-onset Parkinsonism. J Clin Neurol. 2009; 5:192–194. PMID: 20076801.

9. Crisci C, Esposito M. Efficacy of botulinum toxin A treatment in a case of pantothenate kinase associated neurodegeneration (PKAN). BMJ Case Rep. 2011; 5. 16. [Epub]. DOI: 10.1136/bcr.07.2011.4514.

10. Rai V, Goyal V, Shukla G, Rath G, Behari M. Adductor laryngeal breathing dystonia in NBIA treated with botulinum toxin-A. Ann Indian Acad Neurol. 2013; 16:409–410. PMID: 24101831.