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.