Introduction
Aceruloplasminemia was firstly defined in 1987 as a rare adult-onset, an autosomal recessive disorder which is caused by mutations in the ceruloplasmin gene. [1–3]
As a consequence of this mutation iron accumulates all over the body, mostly in brain, retina, pancreas, and liver, which causes neurologic disturbance (68%), retinal degeneration (76%), and diabetes (70%), as main features.  [4, 5]
The iron deposition involves the dentate nuclei of the cerebellum, striatum, and thalamus, and is demonstrated in magnetic resonance imaging (MRI).[6]
The disease can start at different ages and by various features.[4] The patients may experience diabetes in the third to the fifth decade, the retinal disorder in the second decade, and neurological problems in the forth to the sixth decade of life. Neurological manifestation can be ataxia (71%), Parkinsonism (20%) cognitive dysfunction (60%) and involuntary movements (64%) like tremors, chorea and blepharospasm. The retinal disorder is early beginning macular degeneration rather than diabetic retinopathy. [5]
Aceruloplasminemia is detected with specific MRI findings, quite one amongst the above clinical manifestations and typical results on laboratory tests, such as microcytic anemia, lack of serum ceruloplasmin, low serum copper and transferrin saturation, and increased ferritin. [4, 7, 8]
In this paper, we describe a family with two affected siblings with aceruloplasminemia, which dementia was the sole clinical manifestation in one of them.