Pantothenate Kinase-Associated neurodegeneration (Hallervorden–Spatz syndrome)

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Specific Imaging Findings. In pantothenate kinase-associated neurodegeneration (PKAN, formerly known as Hallervorden–Spatz syndrome), MRI shows markedly hypointense globi pallidi on T2-weighted images, with a small hyperintense central or anteromedial area. This finding has been labelled the “eye-of-the-tiger” sign and is highly characteristic of PKAN; it is visible on both axial and coronal images. Gradient-echo T2*-weighted images show more profound hypointensity owing to paramagnetic effects. T1-weighted images may show a corresponding high signal intensity of the pallida. There is no contrast enhancement. CT may reveal symmmetrically increased attenuation, primarily in the anteromedial globus pallidus. Pertinent Clinical Information. This rare autosomal recessive disorder is a part of a group of diseases called “neurodegeneration with brain iron accumulation” (NBIA) which also includes aceruloplasminemia and neuroferritinopathy. PKAN typically presents in older children or adolescents with oromandibular dystonia, mental deterioration, pyramidal signs, and retinal degeneration. Most patients die within 10 years of the clinical onset, although longer survival into early adulthood is possible. Differential Diagnosis. HARP Syndrome (hypopre-β-lipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration. • may be indistinguishable. Other Forms of NBIA. • “eye-of-the-tiger” sign absent. Toxic Encephalopathies (CO poisoning) (3)• globus pallidus T2 hyperintensity without hypointense portion Kernicterus • globus pallidus T2 hyperintensity without hypointense portion. Methylmalonic Acidemia. • globus pallidus T2 hyperintensity without hypointense portion. Normal Iron Deposition. • iron starts accumulating in the pallidi during later childhood and adolescence and is usually seen on MRI from approximately 25 years of age onwards

Original languageEnglish
Title of host publicationBrain Imaging with MRI and CT: An Image Pattern Approach
PublisherCambridge University Press
Pages9-10
Number of pages2
ISBN (Print)9781139030854, 9780521119443
DOIs
Publication statusPublished - Jan 1 2010

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Pantothenate Kinase-Associated Neurodegeneration
Globus Pallidus
Tigers
Iron
Neurotoxicity Syndromes
Abetalipoproteinemia
Kernicterus
Retinal Degeneration
Retinitis Pigmentosa
Dystonia
Carbon Monoxide
Poisoning
Differential Diagnosis
Survival

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Rossi, A. (2010). Pantothenate Kinase-Associated neurodegeneration (Hallervorden–Spatz syndrome). In Brain Imaging with MRI and CT: An Image Pattern Approach (pp. 9-10). Cambridge University Press. https://doi.org/10.1017/CBO9781139030854.005

Pantothenate Kinase-Associated neurodegeneration (Hallervorden–Spatz syndrome). / Rossi, Andrea.

Brain Imaging with MRI and CT: An Image Pattern Approach. Cambridge University Press, 2010. p. 9-10.

Research output: Chapter in Book/Report/Conference proceedingChapter

Rossi, A 2010, Pantothenate Kinase-Associated neurodegeneration (Hallervorden–Spatz syndrome). in Brain Imaging with MRI and CT: An Image Pattern Approach. Cambridge University Press, pp. 9-10. https://doi.org/10.1017/CBO9781139030854.005
Rossi A. Pantothenate Kinase-Associated neurodegeneration (Hallervorden–Spatz syndrome). In Brain Imaging with MRI and CT: An Image Pattern Approach. Cambridge University Press. 2010. p. 9-10 https://doi.org/10.1017/CBO9781139030854.005
Rossi, Andrea. / Pantothenate Kinase-Associated neurodegeneration (Hallervorden–Spatz syndrome). Brain Imaging with MRI and CT: An Image Pattern Approach. Cambridge University Press, 2010. pp. 9-10
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