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AceruloplasminemiaA neurodegenerative disorder characterised by accumulation of iron in the brain and a clinical triad of retinal degeneration, diabetes mellitus, and neurologic signs/symptoms.
Clinical findings Movement disorder (blepharospasm, grimacing, facial and neck dystonia, tremors, chorea) and cerebellar ataxia (gait ataxia, dysarthria), progressive extrapyramidal signs, and dementia
Lab Absent serum ceruloplasmin due to a mutation in the ceruloplasmin gene and one or more of the following: low serum copper or iron, high serum ferritin, and increased iron in the glia, neurones, basal ganglia and dentate nucleus, liver cells, and pancreatic islets.
Imaging MRI findings of abnormal low intensities reflecting iron accumulation in the brain (striatum, thalamus, dentate nucleus) and liver on both T1- and T2-weighted images.
Management Chelation with desferrioxamine, fresh-frozen plasma (FFP) to reduce iron in the liver may improve neurologic signs/symptoms; antioxidants (vitamin E), zinc and deferasirox (iron chelator) may prevent hepatic and pancreatic damage.