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18. An iron overload disorder presenting in adulthood with evidence of microcytic anemia, diabetes, peripheral retinal degeneration, dystonia, dementia, or dysarthria is s/o
1. Haemochromatosis type 3
3. Juvenile haemochromatosis
4. Classical haemochromatosis
Answer = Aceruloplasminemia
Neurological expression is a key feature of the disease. Hereditary Aceruloplasminemia is the sole form of adult genetic iron overload in which excessive iron deposition occurs in the brain. Movement disorders can be present as well as psychiatric symptoms. Retinal degeneration is one of the consequences of the disease.
- This reply was modified 1 year, 12 months ago by Dr Sujeet Kumar.