Complement levels in children with idiophatic nephrotic syndrome (author's transl)]

C3, C4 and C3-activator were found in normal plasma-concentrations in 12 children with INS, compared to 26 healthy children. We could not find an activation of the complement-system by classical or alternate way in this disease. These results can be used for an additional possibility of differential diagnosis of glomerulopathies.     

Reye syndrome (author's transl)]

Reye's syndrome is characterized by severe encephalopathy and fatty infiltration of the liver. Probably this is a polyetiological syndrome. In most cases the disease is preceded by influenza B or varicella infection. As known to date, damage to mitochondria is the essential feature. Therapy is symptomatic. A review is given of the clinical symptoms and of the many unsolved problems of pathogenesis.     

Kryptophthalmus syndrome (author's transl)]

This peper describes the rare cryptophthalmus syndrome combined with several other malformations of the urogenital tract and of the nose, in addition to dyscephalia and cutaneous syndactilism of fingers and toes. Because of a high incidence of parental consanguinity autosomal recessive heredity is discussed.     

The oculo-oto-vertebral syndrome (author's transl)]

A new case of a combined malformation of the ear (anotia), eye (anophthalmia) and vertebral colum is presented. The distinction from the Goldenhar Syndrome and possible embryologic causes are discussed.     

The campomelic syndrome (author's transl)]

Case report of a male infant who died from asphyxia on the second day of life and who exhibited typical features of the campomelic syndrome: odd facies, bowing of the long bones of the legs, skeletal deformities, cleft palate. There was also coarctatio of the aorta and probably aplasia of the fibula.     

Cogans's syndrome in childhood (author's transl)]

A case--report is given of a patient with Cogan's syndrome in childhood. This syndrome consists of non-syphilitic interstitial keratitis and vestibuloauditory symptoms. Visual loss is rare but hearing loss is rapidly progressive. A relation to autoimmune diseases especially to panarteriitis nodosa has been suggested by a number of authors.     

Osteopoikilia with dermofibrosis lenticularis disseminata (Buschke-Ollendorf syndrome) (author's transl)]

In a family, we have observed through 3 generations a Buschke-Ollendorf syndrome. All 12 children and grandchildren, descendants from actually 59 year old grandmother were examined. 8 probands had a osteopoikilia, 5 of them as the grandmother had a dermatofibrosis lentcularis disseminata. The Buschke-Ollendorf syndrome is not really a syndrome in his strong sense, rather a variant of osteopoikilia with participation of skin.     

Subclavian steal syndrome in childhood (author's transl)]

The authors report on four children with subclavian steal associated with coarctation or interrupted aortic arch. All children showed a stenotic origin of the left subclavian; in addition three of them had an extreme hypoplasia of the proximal segment of this artery. Two children had typical symptoms of insufficiency of the vertebral and basilar circulation (headache, dizziness, syncopal attacks, vision and hearing disorders) since the age of 7 and 8 years, respectively. The clinical findings, such as reduced pulses and blood pressure of the respective arm, may suggest the provisional diagnosis. The principles of congenital subclavian steal are discussed.     

Congenital heart disease and down syndrome (author's transl)]

It is reported about 61 children and literature of congenital heart disease and Down syndrome. Even for the cardiologist the heart malformations has to be seen only as a part of the disturbance of the whole individuum. Therapeutic problems are discussed.     

Angiocardiographic and vectorcardiographic findings in Noonan's syndrome (author's transl)]

The angiocardiographic and vectorcardiographic findings in 18 patients with Noonan's syndrome are presented. The excentric hypertrophy of the left ventricle affecting the superior portion of the anterior wall, the posteroinferior portion and the septum was primarily investigated. The predominant lesion was left ventricular deformity. In one case only a hemodynamic burden was caused by the excentric hypertrophy. It could be demonstrated that angiocardiographically and vectorcardiographically differentiation between idiopathic hypertrophic subaortic stenosis and excentric hypertrophy in Noonan's syndrome is impossible. A good correlation however, existed between the morphological structures and the angiocardiographic aspect as well as the vectorcardiographic findings. If hemodynamic burden of the left ventricle is present, identical therapy is proposed for Noonan's syndrome as for idiopathic hypertrophic subaortic stenosis. Left heart catheterization is therefore indicated to prove excentric hypertrophy.     

Measurements of blood volume in children with orthostatic syndrome (author's transl)]

The blood volume in 12 children with primary orthostatic syndrome was determined. For six cases it was measured in vertical and horizontal position of the body. Plasma volume was measured by 125J human albumin, erythrocyte volume by 51Cr erythrocytes. In seven cases the values of total blood volume were below the normal values of 68--80 ml/kg body weight when determined in horizontal position. Diminished values were found especially in children suffering from severe orthostatic syndrome. The results indicate the diminution of total blood volume to be an important pathogenetic factor in orthostatic syndrome. In primary orthostatic syndrome it should be differentiated between a hypovolemic type, and a type of predominantly vascular dysregulation. It is suggested that the development of blood volume regulation is delayed. The reduced capacity of the vascular system associated with reduced physical activity could be an additional factor. The active total blood volume increased in all six cases with the change from an upright to a recumbent position. The mean of the difference (3.8 ml/kg body weight) was found to be lower than that in adults. This suggests that sequestration of blood volume is of no evident significance in childhood.     

Treatment with immunoglobulins (author's transl)]

Passive immunisation by injecting gamma-globulin prepared from a large donor pool or specific antibodies from selected single donors is of great importance in daily practice for prophylaxis. An example is given for each of the 3 most important indications: a) gamma-Globulin for viral disease (e.g. measles prophylaxis); b) Antitoxic immunoglobulins (e.g. tetanus prophylaxis); c) Rhesus-anti-D-gamma-globulin for prophylaxis of rhesus sensitization. In contrast, substitution with great amounts of gammg-globulin is of little importance for the practizing paediatrician, since such cases are rare. This is the domain of the specialist who should be consulted for planning the therapeutic procedure. Data are given on immunoglobulin preparations commercially available and their application. Side effects are listed. They are particularly severe and dangerous in patients with profound hypo-gamma-globulinemia.     

Kniest's syndrome (author's transl)

The clinical picture of the Kniest's syndrome is described. The syndrome is a rare hereditary condition with generalized bone dysplasia, disproportional dwarfism, conduction deafness and severe myopia, retinal detachment, cataract and amaurosis.     

Immunosuppression (author's transl)]

Among different procedures of immunosuppression in man medical treatment with cytotoxic drugs has become the most important. Biological methods are still under development but promise to gain in importance since they are more specific and have fewer side effects. The clinical effect of immunosuppressive therapy in organ transplantation is undisputed. Its effects has been proven in some but not all immuno-inflammatory diseases. Before immunosuppressive therapy is started it must be known whether it is effective in the particular disease involved. The severity of the disease has to be critically balanced against the possible side effects of cytotoxic drugs.     

Cerebral gigantism (Sotos-syndrome) (author's transl)]

Case report of a nine month old girl with Cerebral Gigantism. It is a gigantism syndrome characterized by advanced bone age, a typical craniofacial dysmorphia and a not progredient mental retardation. Etiology and pathogenesis of this syndrome are unknown.     

Aarskog syndrome (author's transl)

Report of radiologic and hormonal results of a patient with typical stigmata of the Aarskog-syndrome. X-Ray findings are not been found to give diagnostic clues, whereas the hormonal findings are considered specific-typical: FSH and LH levels prior to orchidopexy are in a range are as seen with hypergonadotropic hypogonadism. One year after the orchidopexy LH values were found to be normal, the FSH again showed increased titer. The growth hormones concentrations are normal but Somatomedin-activity is decreased.