Objective: To present a case study of a 24-year-old patient with severe dystonia and cognitive decline, suspected to have Pantothenate Kinase-Associated Neurodegeneration (PKAN), a rare subtype of Neurodegeneration with Brain Iron Accumulation (NBIA).

Background: Neurodegeneration with brain iron accumulation encompasses diverse disorders characterized by brain iron deposition. PKAN, an autosomal recessive NBIA disorder, results from mutations in PANK2, presenting with childhood-onset neuroregression. This case explores the rare occurrence of PKAN-like symptoms in adulthood following a traumatic injury. The patient experienced dystonia following a serious traumatic injury in 2015. Despite clonazepam treatment yielding no response, subsequent MRI revealed the distinctive “eye of the tiger” sign associated with neurodegenerative disorders with iron accumulation.

Method: The patient, unresponsive to clonazepam, was prescribed trihexyphenidyl. Due to unavailability of genetic testing in Uzbekistan, a conclusive genetic diagnosis is pending. Given the “eye of the tiger” sign on MRI and clinical features, PKAN is suspected. The patient was referred to a hematologist for a potential experimental iron chelation treatment using deferiprone.

Results: Clinical manifestations align with classic PKAN features, including dystonia, cognitive decline, and the “eye of the tiger” sign. Cognitive decline and the ineffectiveness of clonazepam underscore the complexity of the case. The absence of genetic testing prompts exploration of alternative diagnostic and therapeutic avenues, emphasizing the need for collaboration and innovative approaches in resource-limited regions.

Conclusion: This case underscores challenges in diagnosing adult-onset PKAN without genetic confirmation and managing rare neurodegenerative disorders in regions with limited diagnostic resources, emphasizes the importance of international collaboration. The referral for experimental iron chelation treatment aims to address the underlying iron accumulation, offering a potential avenue for disease modification. Further research and longitudinal studies are crucial to understand the atypical presentation and response to emerging therapies in PKAN.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/unraveling-the-complexity-of-neurodegenerative-disorders-a-case-report-of-pkan-suspected-in-a-24-year-old-patient-with-severe-dystonia/