Skip to main content

Main menu

  • Home
  • Content
    • Current issue
    • Past issues
    • Early releases
    • Collections
    • Sections
    • Blog
    • Infographics & illustrations
    • Podcasts
    • COVID-19 Articles
  • Authors & Reviewers
    • Overview for authors
    • Submission guidelines
    • Submit a manuscript
    • Forms
    • Editorial process
    • Editorial policies
    • Peer review process
    • Publication fees
    • Reprint requests
    • Open access
    • Patient engagement
  • Members & Subscribers
    • Benefits for CMA Members
    • CPD Credits for Members
    • Subscribe to CMAJ Print
    • Subscription Prices
  • Alerts
    • Email alerts
    • RSS
  • JAMC
    • À propos
    • Numéro en cours
    • Archives
    • Sections
    • Abonnement
    • Alertes
    • Trousse média 2023
  • CMAJ JOURNALS
    • CMAJ Open
    • CJS
    • JAMC
    • JPN

User menu

Search

  • Advanced search
CMAJ
  • CMAJ JOURNALS
    • CMAJ Open
    • CJS
    • JAMC
    • JPN
CMAJ

Advanced Search

  • Home
  • Content
    • Current issue
    • Past issues
    • Early releases
    • Collections
    • Sections
    • Blog
    • Infographics & illustrations
    • Podcasts
    • COVID-19 Articles
  • Authors & Reviewers
    • Overview for authors
    • Submission guidelines
    • Submit a manuscript
    • Forms
    • Editorial process
    • Editorial policies
    • Peer review process
    • Publication fees
    • Reprint requests
    • Open access
    • Patient engagement
  • Members & Subscribers
    • Benefits for CMA Members
    • CPD Credits for Members
    • Subscribe to CMAJ Print
    • Subscription Prices
  • Alerts
    • Email alerts
    • RSS
  • JAMC
    • À propos
    • Numéro en cours
    • Archives
    • Sections
    • Abonnement
    • Alertes
    • Trousse média 2023
  • Visit CMAJ on Facebook
  • Follow CMAJ on Twitter
  • Follow CMAJ on Pinterest
  • Follow CMAJ on Youtube
  • Follow CMAJ on Instagram
SynopsisC

The “eye of the tiger” sign

Danish Saleheen, Philippe Frossard, Mohammed Zeeshan Ozair, Mohammad Ali Kazmi, Hamza Khalid and Bhojo Khealani
CMAJ January 04, 2005 172 (1) 38; DOI: https://doi.org/10.1503/cmaj.1040036
Danish Saleheen
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Philippe Frossard
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Mohammed Zeeshan Ozair
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Mohammad Ali Kazmi
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Hamza Khalid
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Bhojo Khealani
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • Figures & Tables
  • Responses
  • Metrics
  • PDF
Loading
  • © 2005 Canadian Medical Association or its licensors

A 13-year-old boy presented to a pediatric clinic with progressive decreased movements. His vision had been decreasing for 8 years, and he had been unable to walk for 3 years.

The patient was born to a healthy nonconsanguineous couple. His mother's pregnancy and his natal history were unremarkable. During infancy his ability to hold his neck and to sit with and without support was delayed. Motor and speech delay were noticed at 2 years, and at 4 years his night vision began to deteriorate, and he had frequent falls with subsequent injuries. An ophthalmologist diagnosed retinitis pigmentosa (RP). At school, his behaviour and academic ability were normal.

At the age of 10, the patient developed spasticity, decreased movements of his lower limbs and dystonic postural abnormalities. The spasticity and dystonia were progressive and disabling enough to restrict him to a wheelchair. His speech deteriorated, and he gradually stopped talking. His parents also observed an intellectual decline. The patient was seen by a number of physicians, none of whom was able to establish a satisfactory diagnosis, until he presented to the pediatric clinic. Funduscopy confirmed the finding of RP, and an MRI showed marked bilateral high-signal intensities surrounding the globus pallidus — the “eye of the tiger” sign that is characteristic of pantothenate kinase-associated neurodegeneration (PKAN) (Fig. 1left; the right image shows an age-matched normal MRI).1

Figure
  • Download figure
  • Open in new tab
  • Download powerpoint

Figure 1.

PKAN, formerly known as Hallervorden–Spatz disease, was first described in 1922.2 It is an autosomal recessive neurodegenerative disorder associated with accumulation of iron in the basal ganglia,1 and it has 2 major forms: early onset and late onset.2 Early-onset PKAN is rapidly progressive and characterized by gait impairment, as seen in our patient. Dystonia develops, leading to loss of ambulation and restriction of activities by mid-adolescence. Intellectual impairment, RP and optic atrophy are also associated with the disease.2 Late-onset PKAN presents by 20 years, manifesting a progressive picture of dementia, parkinsonism, dystonia, anarthria, aphonia and incontinence.2 The pathognomonic “eye of the tiger” sign is seen in both forms of the disease. No prevalence studies have yet been done on this disease or its different forms.

PKAN has been mapped to chromosome 20p12.3-p13.3 Mutations in PANK2, the gene encoding the enzyme pantothenate kinase 2, have been demonstrated in the majority of patients with PKAN.1,3 The presence of mutation in PANK2 leads to a genetic diagnosis and makes presymptomatic testing of family members possible, but an MRI can still be considered the “gold standard” in diagnosing early-onset PKAN.1

The differential diagnosis for progressive dystonia in children includes idiopathic generalized dystonia, dopa-responsive dystonia, myoclonic dystonia, metachromatic leukodystrophy, Niemann–Pick disease type C and Lesch–Nyhan syndrome.4

There is no specific treatment. Some patients show residual activity of the enzyme, but the benefit of pantothenate supplementation in ameliorating symptoms has not yet been proven. However, levodopa, anticholinergics and intrathecal baclofen have been shown to improve the patient's quality of life.2

References

  1. 1.↵
    Hayflick SJ, Westaway SK, Barbara L, Zhou B, Johnson M, Ching K, et al. Genetic, clinical, and radiographic delineation of Hallervorden–Spatz syndrome. N Engl J Med 2003;348:33-40
    OpenUrlCrossRefPubMed
  2. 2.↵
    Neil Gordon. Pantothenate kinase-associated neurodegeneration (Hallervorden–Spatz syndrome). Eur J Pediatr Neurol 2002;6:243-7.
    OpenUrlCrossRefPubMed
  3. 3.↵
    Zhou B, Westaway SK, Levinson B, Johnson M, Gitshier J, Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden–Spatz syndrome. Nat Genet 2001;28: 345-9.
    OpenUrlCrossRefPubMed
  4. 4.↵
    Assmann B, Surtees R, Hoffmann GF. Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia. Ann Neurol 2003;54(Suppl 6):S18-24.
PreviousNext
Back to top

In this issue

Canadian Medical Association Journal: 172 (1)
CMAJ
Vol. 172, Issue 1
4 Jan 2005
  • Table of Contents
  • Index by author
  • Canadian Adverse Reaction Newsletter (127-138)

Article tools

Respond to this article
Print
Download PDF
Article Alerts
To sign up for email alerts or to access your current email alerts, enter your email address below:
Email Article

Thank you for your interest in spreading the word on CMAJ.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
The “eye of the tiger” sign
(Your Name) has sent you a message from CMAJ
(Your Name) thought you would like to see the CMAJ web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Citation Tools
The “eye of the tiger” sign
Danish Saleheen, Philippe Frossard, Mohammed Zeeshan Ozair, Mohammad Ali Kazmi, Hamza Khalid, Bhojo Khealani
CMAJ Jan 2005, 172 (1) 38; DOI: 10.1503/cmaj.1040036

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
‍ Request Permissions
Share
The “eye of the tiger” sign
Danish Saleheen, Philippe Frossard, Mohammed Zeeshan Ozair, Mohammad Ali Kazmi, Hamza Khalid, Bhojo Khealani
CMAJ Jan 2005, 172 (1) 38; DOI: 10.1503/cmaj.1040036
Digg logo Reddit logo Twitter logo Facebook logo Google logo Mendeley logo
  • Tweet Widget
  • Facebook Like

Jump to section

  • Article
    • References
  • Figures & Tables
  • Responses
  • Metrics
  • PDF

Related Articles

  • No related articles found.
  • PubMed
  • Google Scholar

Cited By...

  • A novel mutation in a patient with pantothenate kinase-associated neurodegeneration
  • Google Scholar

More in this TOC Section

  • Does β-blocker prophylaxis improve survival after major noncardiac surgery?
  • The changing ecology of avian flu
  • Applying the 2005 Canadian Hypertension Education Program recommendations: 4. Managing uncomplicated hypertension
Show more Synopsis

Similar Articles

Collections

  • Topics
    • Genetics
    • Neurology

 

View Latest Classified Ads

Content

  • Current issue
  • Past issues
  • Collections
  • Sections
  • Blog
  • Podcasts
  • Alerts
  • RSS
  • Early releases

Information for

  • Advertisers
  • Authors
  • Reviewers
  • CMA Members
  • CPD credits
  • Media
  • Reprint requests
  • Subscribers

About

  • General Information
  • Journal staff
  • Editorial Board
  • Advisory Panels
  • Governance Council
  • Journal Oversight
  • Careers
  • Contact
  • Copyright and Permissions
  • Accessibiity
  • CMA Civility Standards
CMAJ Group

Copyright 2023, CMA Impact Inc. or its licensors. All rights reserved. ISSN 1488-2329 (e) 0820-3946 (p)

All editorial matter in CMAJ represents the opinions of the authors and not necessarily those of the Canadian Medical Association or its subsidiaries.

To receive any of these resources in an accessible format, please contact us at CMAJ Group, 500-1410 Blair Towers Place, Ottawa ON, K1J 9B9; p: 1-888-855-2555; e: cmajgroup@cmaj.ca

Powered by HighWire