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.