Hereditary caeruloplasmin deficiency: clinicopathological study of a patient.

LESSON OF THE MONTH 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 Ti and T2 weighted images. Pathological findings were mainly in those regions of the brain and consist...

Hereditary deficiency of ferroxidase (aka caeruloplasmin)

Red Cell Enzymopathies in Patients with Hemolytic Anemia in Southern Iran: Case Series

Abstract Background: Hereditary red cell enzyme disorders are a group of Non-immune/Spherocytic Hemolytic Anemia, although these disorders are rare and they have not public health problems, the detection of these defects could help to physician in treatment and differential diagnosis. This study evaluated 5 enzymopathies in patients with Hereditary Non –immune/Spherocytic Hemolyti...

Epidemiology of Hereditary Coagulation Bleeding Disorders: A 15-Year Experience From Southern Iran

Background: Data on the frequency of hereditary bleeding disorders (HBDs) and associated mortality and morbidities during a long-term follow-up from Iran are scarce. Objective: This study evaluated the epidemiologic features among patients with HBD in one of the largest referral centers in southern Iran. Methods: In this cross-secti...

Studies with radioactive copper ( 64 Cu and 67 Cu); the incorporation of radioactive copper into caeruloplasmin in Wilson's disease and in primary biliary cirrhosis.

group. The object oP thIs study has been to assess the influence of an expanded hepatic pool of copper on the incorporation of radioactive copper into caeruloplasmin. 2. Studies with 67CU have shown that radioactivity disappears steadily from the plasma of patients with Wilson's disease for periods up to 296 h. Both in patients with primary biliary cirrhosis and in controls, a well-marked secon...