Eye of the Tiger: Looking Beyond Neurodegeneration with Brain Iron Accumulation Disorders

Abstract

The “eye-of-the-tiger” sign in brain magnetic resonance imaging (MRI) is typically associated with neurodegeneration with brain iron accumulation disorders, especially pantothenate kinase-associated neurodegeneration. However, very similar neuroimaging findings may be seen in other neurodegenerative disorders involving the basal ganglia. We report here a patient with fucosidosis who had MRI brain findings closely resembling the “eye-of-the-tiger” sign.

Keywords

eye-of-the-tiger sign - fucosidosis - neurodegeneration with brain iron accumulation

Note

The authors are grateful to the patient and his family, for their participation in this study. Molecular genetic testing of the patient was performed in MedGenome Labs Ltd., Bengaluru, India.

Publication History

Received: 06 August 2020

Accepted: 24 December 2020

Article published online:
17 February 2021

• References

• 1 Hayflick SJ, Hartman M, Coryell J, Gitschier J, Rowley H. Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. AJNR Am J Neuroradiol 2006; 27 (06) 1230-1233
• 2 Richards S, Aziz N, Bale S. et al; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17 (05) 405-424
• 3 George HT. Disorders of glycoprotein degradation: α-mannosidosis, β-mannosidosis, α-fucosidosis and sialidosis. In: Scriver CR, Beaudet AL, Sly WS. et al, eds. The Metabolic and Molecular Basis of Inherited Metabolic Disease. 8th ed.. New York: McGraw-Hill; 2001: 3507-3533
• 4 Sheth J, Mistri M, Bhavsar R. et al. Lysosomal storage disorders in Indian children with Neuroregression attending a genetic center. Indian Pediatr 2015; 52 (12) 1029-1033
• 5 Wali G, Wali GM, Sue CM, Kumar KR. A novel homozygous mutation in the FUCA1 gene highlighting fucosidosis as a cause of dystonia: case report and literature review. Neuropediatrics 2019; 50 (04) 248-252
• 6 Gowda VK, Srinivasan VM, Vegda H, Bhat M. Fucosidosis with pathogenic variant in FUCA1 gene. Indian J Pediatr 2020; 87 (10) 867-868
• 7 Willems PJ, Gatti R, Darby JK. et al. Fucosidosis revisited: a review of 77 patients. Am J Med Genet 1991; 38: 111-131
• 8 Galluzzi P, Rufa A, Balestri P, Cerase A, Federico A. MR brain imaging of fucosidosis type I. AJNR Am J Neuroradiol 2001; 22 (04) 777-780
• 9 Gautschi M, Merlini L, Calza AM, Hayflick S, Nuoffer JM, Fluss J. Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin. Eur J Paediatr Neurol 2014; 18 (04) 516-519
• 10 Zubarioglu T, Kiykim E, Zeybek CA. et al. Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation. Ann Indian Acad Neurol 2015; 18 (04) 471-474
• 11 Gregory A, Hayflick SJ. Pantothenate kinase-associated neurodegeneration. 2002. In: Adam MP, Ardinger HH, Pagon RA. et al, eds. GeneReviews®. Seattle, WA: University of Washington; ;1993–2020. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1490/
• 12 Yoganathan S, Sudhakar SV, Thomas M, Dutta AK, Danda S. “Eye of tiger sign” mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN). Brain Dev 2016; 38 (05) 516-519