Familial Hepato-Splenomegaly: Two Cases Occurring in Brothers

Familial hemophagocytic lymphohistiocytosis in two brothers.

Familial hemophagocytic lymphohistiocytosis is a disorder which presents with fever, pancytopenia, liver dysfunction and also an increase in non-malignant histiocytes with prominent hemophagocytosis in various organs. It is usually difficult to distinguish from other hemophagocytic syndrome in the absence of family history. It rarely manifests in adults. Chemotherapy is usually indicated. Here,...

TWO CASES OF TYROSINEMIA TYPE II, AND ITS RARE OCCURRENCE IN TWO BROTHERS

Tyrosinemia type II is a rare autosomal recessive disorder wich can present itself with recurrent epithelial keratitis, hyperkeratotic skin lesions and mental retardation. This article reports the rare occurrence of this disease in both offsprings (two brothers) of a family (consanguinous'marriage) who were managed with a lowprotein diet and a special regimen.

Mild PTC (plasma thromboplastin component) deficiency occurring in two brothers.

Management of homozygous familial hypercholesterolaemia in two brothers

Homozygous familial hypercholesterolaemia (HoFH) is a rare, genetic disorder of abnormally high levels of low-density lipoprotein cholesterol (LDL-C) requiring aggressive interventions to retard the evolution of atherosclerotic cardiovascular disease. We treated two brothers (ages 46 years and 47 years) with HoFH with statins, lipoproteinapheresis (LA) and the microsomal triglyceride transfer p...

Report of two unrelated cases of Familial Thrombotic Thrombocytopeic Purpura

Thrombotic Thrombocytopenic Purpura (TTP) is a rare microangiopathic disorder characterised by the pentad of microangiopathic hemolytic anemia, thrombocytopenic purpura, neurologic abnormalities, fever, and renal disease. Decreased production and/or activity of ADAMTS13 is the cause of this disorder. ADAMTS13 is a metalloproteinase which is responsible of the cleavage of high weight multimers o...