Aceruloplasminemia


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Aceruloplasminemia

A 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.
References in periodicals archive ?
In cases of iron deposition in the basal ganglia and the "eye-of-the-tiger" sign, differential diagnosis includes aceruloplasminemia and neuroferritinopathy.
Harris, "Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis," Annals of the New York Academy ofSciences, vol.
(1,2) Other subtypes of NBIA include neuroferritinopathy and aceruloplasminemia caused by mutations in the ferritin light chain (FTL) and mutations in the ceruloplasmin (CP) gene, respectively.
Rare diseases such as Menkes disease (an X-linked disorder of copper transport leading to decreased intestinal copper absorption) and aceruloplasminemia (a rare disorder leading to the absence of ceruloplasmin and problems in iron metabolism).
Perez-Aguilar, "Ceruloplasmine and iron metabolism: their implications in hemochromatosis, Wilson's disease and aceruloplasminemia," Revista CUnica Espanola, vol.
Among intoxication-type IMDs, DM develops due to iron overload in hemochromatosis (10) and in aceruloplasminemia (11), which may arise from ketoacidosis-induced pancreatitis in organic aciduria (12,13).
In neurodegeneration with brain iron accumulation related-disorders, the presence of thalamic hypointensities on [T2.sup.*]-weighted or SWI imaging is suggestive of aceruloplasminemia and neuroferritinopathy [7].
Similarly, in a case study of patient suffering from aceruloplasminemia, a disease resulting from a defect in the ceruloplasmin gene, an accumulation of iron in the macula was found and features of AMD developed [7].
Decreased concentrations of ceruloplasmin may indicate aceruloplasminemia, Menkes disease, or Wilson disease.
Several hereditary disorders, including aceruloplasminemia, can disrupt this homeostasis.