Aceruloplasminemia: Unique Clinical and MRI Findings in a Patient with a Novel Frameshift Mutation.

The article discusses a case of aceruloplasminemia, a rare disorder caused by mutations in the ceruloplasmin gene, leading to iron accumulation in the body. The patient, a 61-year-old Caucasian female, presented with a history of gait impairment, involuntary movements, cognitive decline, and anemia. Unique clinical and MRI findings, including basal ganglia cavitations, were observed. Treatment with iron chelation therapy was unsuccessful due to delayed diagnosis. The article highlights the importance of early diagnosis and treatment in managing aceruloplasminemia. [Extracted from the article]