MRI Spectrum of Neurodegeneration with Brain Iron Accumulation: A Case Series of Varied Clinical Phenotypes

Dr. Lavu Ramya, Dr. Veena Narisetty, Dr. G. Sree Ranga Lakshmi, Dr. Navya Vaddiparthi

Abstract: Background: Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurodegenerative disorders characterized by basal ganglia iron deposition and variable neurological manifestations. Aim: To describe the clinical presentations and characteristic MRI findings in patients with NBIA. Materials and Methods: This retrospective case series included ten patients with NBIA diagnosed based on clinical features and characteristic MRI findings. Neurological examination and MRI brain were evaluated for basal ganglia iron deposition and the "eye-of-the-tiger" sign. Genetic testing and family history were documented where available. Results: Patients aged 12?60 years had an equal male-to-female ratio. Clinical features included behavioral and psychiatric symptoms, cognitive decline, dystonia, bradykinesia, tremor, and ataxia. The "eye-of-the-tiger" sign was present in six patients. Three patients were from the same family, and one asymptomatic patient had characteristic MRI abnormalities. One patient had Kayser-Fleischer rings. Genetic testing identified PKAN mutations in six patients and an ADCY5 mutation in one. Conclusion: NBIA has a diverse clinical presentation, while characteristic MRI findings can provide important diagnostic clues. Recognition of basal ganglia iron deposition, along with genetic testing and family evaluation, facilitates diagnosis and counseling.

Keywords: NBIA; MRI; Eye-of-the-Tiger sign; PKAN; Brain iron accumulation

How to Cite?: Dr. Lavu Ramya, Dr. Veena Narisetty, Dr. G. Sree Ranga Lakshmi, Dr. Navya Vaddiparthi, "MRI Spectrum of Neurodegeneration with Brain Iron Accumulation: A Case Series of Varied Clinical Phenotypes", Volume 15 Issue 9, September 2026, International Journal of Science and Research (IJSR), Pages: 419-421, https://www.ijsr.net/getabstract.php?paperid=SR26906184434, DOI: https://dx.doi.org/10.21275/SR26906184434

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