Pantothenate kinase-associated neurodegeneration: A classical case report and literature review
PDF (Español)
HTML (Español)

Keywords

Pantothenate kinase-associated neurodegeneration
neurodegeneration
dystonia
spasticity
neuroimaging with

Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare neurodegenerative disease characterized by progressive extrapyramidal dysfunction and iron accumulation in the basal ganglia. The classic sign in neuroimaging of "eye of the tiger" is seen on T2-weighted magnetic resonance imaging scan. We present a classic case of the disease in a child who starts with motor symptoms at 5 years old and was studied at the Instituto de Ortopedia Infantil Roosevelt, with typical neuroimaging and confirmation of the mutation by molecular study.

https://doi.org/10.22379/2422402247%20

PDF (Español)
HTML (Español)

References

GREGORY A, HAYFLICK S. GeneReviews [Internet]; 2002 [actualizado enero 31 de 2013; citado el 12 junio de 2014]. Disponible en http://www. ncbi.nlm.nih.gov/books/NBK1490/.

GREGORY A, POLSTER J, HAYFLICK S. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J. Med. Genet. 2009;46:73-80.

HAYFLICK S, WESTAWAY S, LEVINSON B, ZHOU B, JOHNSON M, CHING K, GITSCHIER J. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 2003;348:33-40.

DUSEK P, JANKOVIC J, LE W. Iron dysregulation in movement disorders. Neurobiology of Disease 2012;46:1-18.

OMIN.ORG [Internet]. EE. UU: OMIM; 1996 [actualizado febrero de 2014; citado el 12 junio de 2014]. Disponible en http://www.omim.org/entry/234200.

KRUER M, BODDAERT N. Neurodegeneration with?Brain Iron Accumulation: A Diagnostic Algorithm. Semin Pediatr Neurol. 2012;19:67-74.

SCHIPPER H. Neurodegeneration with brain iron accumulation. Clinical syndromes and neuroimaging. Biochimica et Biophysica Acta 2012; 1822:350-60.

BEKIESINSKA-FIGATOWSKA M, MIERZEWSKA M, JURKIEWICZ E. Basal ganglia lesions in children and adults. Eur J of Radiology 2013;82:837-849.

KUSVURAN E, IRMAK S, ET AL. Comparison of several advanced oxidation processes for the decolorization of Reactive Red 120 azo dye in aqueous solution. Journal of Hazardous Materials 2004;109:85- 93.

FREEMAN K, GREGORY A, TURNER A, ET AL. Intellectual and adaptive behavior functioning in pantothenate kinase-associated eurodegeneration. J Intellect Disabil Res. 2007;51:417-26.

GUIMARAES J, SANTOS J. Generalized freezing in Hallervorden-Spatz syndrome: case report. Eur J Neurol. 1999;6:509-13.

YAMASHITA S, MAEDA Y, OHMORI H, UCHIDA Y, HIRANO T, ET AL. Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene. J Neurol Sci. 2004;225:129-33.

OMIN.ORG [Internet]. EE. UU.: OMIM; 1996 [actualizado abril de 2010; citado el 12 junio de 2014]. Disponible en http://www.omim.org/entry/607236.

HOULDEN H, LINCOLN S, FARRER M, ET AL. Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic. Neurology 2003;61:1423-6.

KAZEK B, JAMROZ E, ET AL. Novel PANK2 Gene Mutation: Clinical and Molecular Characteristics of Patients-Short Communication. J Child Neurol. 2007;22:1256-9.

SWAIMAN KF. Hallervorden-Spatz syndrome. Pediatr Neurol. 2001;25:102-8.

SCHNEIDER S. Syndromes of Neurodegeneration with Brain Iron Accumulation. Semin Pediatr Neurol. 2012;19:57-66.

KRUER M, HIKEN M, GREGORY A, ET AL. Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration. Brain 2011;134:947-58.

HOGARTH P, GREGORY A. New form of neurodegeneration with brain iron accumulation: features associated with MPAN. Neurology 2013;80:268-75.

HAYFLICK S. Neurodegeneration with Brain Iron Accumulation: From Genes to Pathogenesis. Semin Pediatr Neurol. 2006;13:182-5.

HOGARTH P, GREGORY A, KRUER M, SANFORD L, ET AL. New form of neurodegeneration with brain iron accumulation: features associated with MPAN. Neurology 2013;80:268-75.

KUMAR N, BOES C, BABOVIC-VUKSANOVIC D, BOEVE BF. The 'eye-of-the-tiger' sign is not pathognomonic of the PANK2 mutation. Arch. Neurol. 2006;63:292-3.

WU Y, HESS C, SINGHAL N. Idiopathic Basal Ganglia Calcifications: An Atypical Presentation of PKAN. Pediatric Neurology 2013,49:351-4.

CASTELNAU P, CIF L, VALENTE EM, ET AL. Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. Ann Neurol. 2005;57:738-41.

TIMMERMANN L, VOLKMANN J. Deep brain stimulation for treatment of dystonia and tremor. Nervenarzt 2010;81(6):680-7.

A two-arm efficacy and safety study of deferiprone in patients with pantothenate kinase-associated neurodegeneration (PKAN) [Internet]. ClinicalTrials.gov [actualizado abril 24 de 2014; citado el 3 de julio de 2014]. Disponible en http://www.clinicaltrials.gov/ct2/show/study/NCT01741532?term=deferiprone&rank=1#contacts.

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Downloads

Download data is not yet available.