Hereditary caeruloplasmin deficiency: clinicopathological study of a patient.
A 58 year old patient with dementia, oral dyskinesia, and diabetes mellitus is described. He had an undetectable concentration of serum caeruloplasmin, as an autosomal recessive trait. Brain MRI disclosed a pronounced hypointensity in the bilateral putamina, caudate, and dentate nuclei on both T1 and T2 weighted images. Pathological findings were mainly in those regions of the brain and consisted of neuronal cell loss with gliosis, heavy iron deposition, and spheroids. Visceral organs also had iron deposition, especially severe in the liver and pancreas. The present patient and other recorded cases constitute a clinicopathological entity of hereditary caeruloplasmin deficiency, different from Wilson's disease.
Kawanami
T
T
Third Department of Internal Medicine, Yamagata University School of Medicine, Japan.
Kato
T
T
Daimon
M
M
Tominaga
M
M
Sasaki
H
H
Maeda
K
K
Arai
S
S
Shikama
Y
Y
Katagiri
T
T
D001921:Brain / Q000473:pathology; D002570:Ceruloplasmin / Q000172:deficiency*; D030342:Genetic Diseases, Inborn / Q000473:pathology*; D006801:Humans; D008099:Liver / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010179:Pancreas / Q000473:pathology
D002570:Ceruloplasmin