Plasminogen deficiency.

Plasminogen (plg) deficiency has been classified as (i) hypoplasminogenemia or 'true' type I plg deficiency, and (ii) dysplasminogenemia, also called type II plg deficiency. Both forms, severe hypoplasminogenemia and dysplasminogenemia, are not causally linked to venous thrombosis. Dysplasminogenemia does not lead to a specific clinical manifestation and probably represents only a polymorphic variation in the general population, mainly in Asian countries. Severe hypoplasminogenemia is associated with compromised extracellular fibrin clearance during wound healing, leading to pseudomembraneous (ligneous) lesions on affected mucous membranes (eye, middle ear, mouth, pharynx, duodenum, upper and lower respiratory tract and female genital tract). Ligneous conjunctivitis is by far the most common clinical manifestation. More than 12% of patients with severe hypoplasminogenemia exhibit congenital occlusive hydrocephalus. In milder cases of ligneous conjunctivitis, topical application of plg-containing eye drops, fresh frozen plasma, heparin, corticosteroids or certain immunosuppressive agents (such as azathioprine) may be more or less effective. Oral treatment with sex hormones was successful in two female patients with ligneous conjunctivitis. In severe cases with possibly life-threatening multi-organ involvement, true therapeutic options are not available at present. The plg-knockout mouse is a useful tool to study the many different properties of plg in a variety of settings, such as wound healing, tissue repair and tissue remodeling, virulence and invasiveness of certain bacteria in the human host, tumor growth and dissemination, as well as arteriosclerosis.

Congenital hydrocephalus as a rare association with ligneous conjunctivitis and type I plasminogen deficiency.

Severe type I plasminogen deficiency is the underlying cause of ligneous conjunctivitis (LC). Furthermore, pseudomembranes may also be found on other mucous membranes (gastrointestinal tract, bronchial system, genital tract). In very rare cases, congenital hydrocephalus has been associated with the more severe forms of the disease and may even precede LC. The pathophysiological mechanism is unclear at present. It is advisable to look for plasminogen deficiency in patients with congenital hydrocephalus, because obstruction of ventriculoperitoneal shunts is possible when such a condition is overlooked. Here, we report a case of LC with hydrocephalus. This report reemphasizes the association of LC with hydrocephalus which is not well known.

[Clinical and molecular genetic findings in four girls with Rett syndrome]. / Das Rett-Syndrom: Klinische und molekulargenetische Befunde bei vier betroffenen Mädchen.

We report on four mental retarded girls with typical clinical signs of Rett syndrome. Rett syndrome is an X-linked neurodevelopment disorder which develops after a period of normal development at the age of 6 to 18 months, affecting 1/10 000 - 15 000 girls. Recently, the MeCP2-gene encoding the methyl-CpG-binding protein 2 has been shown to be mutated in 80 percent of girls with Rett Syndrome, studied so far. In our patients with Rett syndrome two common mutations of the MeCP2-gene, R168X (n=2) and T158M were found. In the 4th patient a novel "missense" mutation R294G was identified.