Challenges in managing severe homozygous protein c deficiency: a case report.

Protein C deficiency is a rare autosomal recessive disorder associated with a high risk of thromboembolic complications. This case report describes the challenges in managing a 23-year-old woman with severe homozygous protein C type 1 deficiency diagnosed since early infancy. Her medical history included misdiagnosed cellulitis, recurrent thrombosis, and permanent vision loss in one eye.

Familial Diamond-Blackfan anemia. Case reports and a review of the related literature.

We present the case of three sisters with Diamond-Blackfan anemia (DBA) from a consanguineous marriage. These sisters presented within the first 2 months of age with anemia without hepatosplenomegaly together with complete blood count and bone marrow pictures compatible with the diagnosis of DBA syndrome. They were given blood transfusions and then started on prednisolone 2 mg/kg/day in divided doses, tapering the dose to a minimum to keep Hb around 90 g/l.