LESSON OF THE MONTH Hereditary caeruloplasmin deficiency : clinicopathological study of a patient

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 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...

Lacunar infarction in child with Protein S deficiency: a case report

Abstract Arterial ischemic stroke defines as a new focal neurologic deficit that lasted 24 hours or longer. Stroke is relatively rare in children and incidence of cerebrovascular disease is 1 per 4000 in neonates and 1 per 7000 to 1 per 70000 in older children (1 month to 18 years). Protein S deficiency is one of the causes of the stroke in children. Major manifestations of protein S deficienc...