[Cerebral hemosiderosis related to hereditary ceruloplasmin deficiency. Clinical familial case study].
A 59-year-old patient progressively developed dementia, hallucinations and facial dyskinesia. Brain T and T2-weighted MRI images showed low signal intensity on basal ganglia specially striatum, posterior thalamic and dentate nuclei. He had no evidence of ceruloplasmin and a high level of ferritin in the serum. Liver biopsy confirmed accumulation of iron in the cytoplasm of many hepatocytes. Similar clinical and biological signs were also observed in two brothers. All the three siblings were homozygous for a hereditary ceruloplasmin deficiency. This new clinico-pathological entity, first described in 1987, is different from Wilson's disease, Hallervorden-Spatz's disease and idiopathic hemochromatosis and linked to a mutation of the ceruloplasmin gene located on chromosome 3.
Service de Neurologie, Hôpital René-Dubos, Pontoise.
J
J
Servan
D
D
Elghozi
S
S
Gaynot
H
H
Duclos
D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000097:blood / Q000235:genetics* / Q000473:pathology; D002570:Ceruloplasmin / Q000172:deficiency* / Q000235:genetics; D002893:Chromosomes, Human, Pair 3; D003704:Dementia; D005260:Female; D005293:Ferritins / Q000097:blood; D006212:Hallucinations; D006486:Hemosiderosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders; D009679:Nuclear Family
D005293:Ferritins; D002570:Ceruloplasmin
Hémosidérose cérébrale liée à un déficit héréditaire en céruloplasmine. Etude clinique d'un cas familial.