Title : Freudian slips and ferrous chips: Neuropsychiatric presentation of brain iron accumulation
Abstract:
Background: Neurodegeneration with Brain Iron Accumulation (NBIA) is an exceptionally rare, inherited neurodegenerative disorder marked by abnormal iron deposition in the brain, particularly the basal ganglia. The global incidence is extremely low, and its clinical manifestations can be diverse, including both movement and neuropsychiatric symptoms, making diagnosis challenging—especially when comorbid with common conditions like diabetes mellitus.
Case details: We report a case of a middle-aged male who presented with prominent emotional lability, easy fatiguability, and increased irritability. Laboratory workup revealed persistently uncontrolled blood glucose. Due to the presence of pronounced neuropsychiatric symptoms, further evaluation with brain MRI was performed, revealing characteristic findings of NBIA with iron accumulation in the basal ganglia.
Management: Our patient was managed with iron chelation therapy, aimed at reducing brain iron stores, while also optimizing glycemic control through standard measures. Over subsequent follow-up, the patient experienced marked improvement in his emotional stability and reduction in neuropsychiatric symptoms, along with better control of blood glucose.
Conclusion: NBIA is a rare cause of neuropsychiatric and movement abnormalities that should be considered in patients with atypical presentations, especially when neuroimaging reveals iron accumulation. Early identification and initiation of chelation therapy, though supportive, can lead to clinical improvement.
