Case 2:
The 56-year-old sibling had had cognitive decline for 8 years, and Alzheimer’s disease had been diagnosed. . He has a history of diabetes mellitus (DM) since the age of 28. On examination, he had mostly attention, concentration, memory, executive dysfunction, and his MOCA was 5. Other examinations including, cerebellar, pyramidal, extrapyramidal, eye movements, and sensory function were unremarkable.
According to his positive family history, more workup showed microcytic anemia, elevated ferritin, and low serum ceruloplasmin. (Table 1)
The brain MRI revealed low signal intensity on the T2/fluid attenuated inversion recovery weighted image. (Figure C, D)
After careful history taking, it was showed that the apart that case 1, other siblings have diabetes, plus the younger brother has a high ferritin level and mild cognitive dysfunction without other neurological findings.
The family history, laboratory and imaging results were leading to the diagnosis of aceruloplasminemia, therefore, the genetic study was asked and showed homozygote pathogenic variant defined as (c.2425+1G>C) in splice region of exon 13 of CP gene.