Related Experiment Video
Updated: May 28, 2026
Assessing Iron Deposition in the Brains of 5xFAD Mice by Perls'/DAB Staining
Published on: May 23, 2025
Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation
Daniela Rossi1, Elisa De Grandis, Chiara Barzaghi
1Child Neurology and Psychiatry Unit, G. Gaslini Institute, Genova, Italy. danielapaolarossi@fastwebnet.it
Background:
Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disorder caused by pantothenate kinase (PANK2) gene mutations. Brain magnetic resonance imaging (MRI) typically shows the "eye-of-the-tiger" sign, i.e. bilateral pallidal T2 hypointensity with a small central region of T2-hyperintensity.
Aims:
To describe clinical and MRI findings of a boy with early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation.
Methods:
Clinical, neuroradiological and molecular investigations have been performed.
Results:
At first observation (2years and 10months) the boy presented only with developmental delay and toe-walking and isolated T2 hyperintensity within globi pallidi on brain MRI. One year later, small rounded areas of markedly low signal within the globi pallidi on T2∗- weighted images appeared in association with mild dystonia. PANK2 gene homozygous mutation confirmed the diagnosis of PKAN.
Conclusions:
In young children, PKAN should be suspected also before clinical and neuroradiological picture is fully indicative, to avoid delayed diagnosis of a genetic disease for which therapeutical options could be potentially useful if administered in paucisymptomatic subjects.
Insights
Pantothenate kinase-associated neurodegeneration (PKAN) can present with subtle early signs, including developmental delay and specific MRI findings. Early diagnosis of this PANK2 gene disorder is crucial for potential therapeutic interventions in young children.
Area of Science:
- Neurogenetics
- Pediatric Neurology
- Neuroimaging
Background:
- Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, inherited neurodegenerative disorder.
- Mutations in the PANK2 gene are the primary cause of PKAN.
- Characteristic brain MRI findings include the "eye-of-the-tiger" sign in the globus pallidus.
Observation:
- A case study of a young boy with early-onset neurodegeneration and brain iron accumulation is presented.
- Initial presentation at 2 years 10 months included developmental delay and toe-walking.
- Brain MRI revealed isolated T2 hyperintensity in the globus pallidi.
Findings:
- Over one year, the patient developed mild dystonia and characteristic T2*-weighted MRI changes (low signal areas in globus pallidi).
- Genetic analysis confirmed a homozygous PANK2 gene mutation, establishing the diagnosis of PKAN.
- This highlights a potential early MRI signature preceding overt "eye-of-the-tiger" sign.
Implications:
- PKAN diagnosis should be considered in young children with nonspecific neurological symptoms and suggestive MRI findings.
- Early identification is critical as therapeutic options may be more effective in paucisymptomatic individuals.
- This case underscores the importance of genetic testing for neurodegenerative disorders with iron accumulation.
Related Concept Videos
01:24Parkinson Disease ll: Pathophysiology
01:24Parkinson Disease l: Introduction
01:29Alzheimer Disease l: Introduction
01:37Neural Regulation
01:23Alzheimer Disease ll: Pathophysiology
01:15Parkinson's Disease: Overview