Neuromyelitis optica antibody (or aquaporin-4 antibody) is a well established serum marker associated to high-risk neuromyelitis optica syndrome that presents as an inflammatory demyelinating disease characterized by the occurrence of bilateral and simultaneous optic neuritis without complete visual recovery or it occurs as an isolated episode of transverse myelitis accompanied by longitudinall...

Hereditary neuralgic amyotrophy is a rare disorder characterized by the sudden onset of recurrent episodes of painful brachial plexus neuropathies, followed by atrophy within a few weeks. The authors present the case of a 5-year-old boy who developed hereditary neuralgic amyotrophy in the right upper limb after a gastroenteritis illness. He made a full and rapid recovery with the use of intrave...

The risk for thrombosis is increased in patients with hereditary hydrocytosis, an uncommon variant of hereditary stomatocytosis. Erythrocytes from 2 patients with hydrocytosis were studied to gain insight into the mechanism of thrombosis in this disorder. Erythrocytes demonstrated abnormal osmotic scan ektacytometry and decreased erythrocyte filtration rates. There was also a mild increase in a...

Background Hereditary spherocytosis is the most common form of inherited hemolytic anemia and is characterized by a structural defect in the RBC membrane. The disorder is commonly inherited in an autosomal dominant fashion and leads to a mild to moderate anemia. The autosomal recessive form of hereditary spherocytosis is rarely reported in association with fetal anemia and hydrops fetalis. Ca...

α-Fetoprotein is a well-established tumor marker for non-seminomatous germ cell tumors. Elevated α-fetoprotein levels, however, result from a variety of clinical conditions. Hereditary persistence of α-fetoprotein is a rare benign disorder in which serum α-fetoprotein levels are persistently elevated, but there are no disabilities and symptoms. A 35-year-old man was diagnosed with pT1 testicula...

Angioedema caused by C1 inhibitor deficiency is a rare disorder that may be either hereditary or acquired, the latter being mainly associated with lymphoproliferative disorders. A 51-year-old woman who had suffered from episodes of acute peripheral edema since she was 12 was diagnosed with hereditary angioedema at the age of 40 and remained stable with stanozolol. Due to a worsening of her symp...

background: phenylketonuria is a hereditary, autosomal recessive disorder caused by deficiency of phenylalanine hydroxylase or its cofactor tetrahydrobiopterin. the purpose of the present study was to evaluate the incidence of this disorder in southern iran.   methods: all the neonates born between 22/dec/2004 and 7/sep/2007 were screened and their blood samples were tested by colorimetric and ...

Hereditary nonpolyposis colon cancer is a common hereditary disorder caused by the germ-line mutations of DNA mismatch repair (MMR) genes, especially hMLH1 and hMSH2. We report here the first identification of human compounds with a homozygous inactivation of a MMR gene. In a typical hereditary nonpolyposis colon cancer family, MMR-deficient children conceived from matings between heterozygotes...