The Wyburn-Mason syndrome (author's transl)

A patient aged 39 years with Wyburn-Mason syndrome is presented. He had an apple-sized intracranial arteriovenous angioma racemosum of the left temporo-medical region, which was inoperable, as it extended to the basal ganglia. It was diagnosed by carotid angiography and by sequential brain szintigraphy. More than 50 retinal arteriovenous anastomoses were observed in the left eye, involving all quadrants and the macular region. Some of these anastomoses were only found by fluorescence angiography. Clinical signs were hemiparesis and decreased sensibility of the right side, headaches, speech disorders and right homonymous hemianopia. Vision was decreased to 0.4. By partial embolisation via the right common carotid, it was possible to reduce the size of the intracranial hemangioma.     

Vater or Vacterl syndrome (author's transl)

Analysis of malformations in 65 newborns with limb anomalies, 39 with esophageal atresia with tracheoesophageal fistula, and 41 with anal atresia confirmed the nonrandom tendency for the defects of the VATER or VACTERL syndrome to associate together. 11 new patients with 4 or more of these anomalies were compared with 41 previously reported cases. There was good agreement with reference to the frequency of the major malformations noted in the VACTERL association. While anal atresia was not so common in our patients, cardiac anomalies and radial limb dysplasia occurred somewhat more frequently. In accordance with previous findings we also emphasize a single umbilical artery as one of the malformations in the spectrum of the VACTERL association (V = vertebral defects and vascular anomalies). Because of the high incidence of rib anomalies in our patients and in earlier cases with complete medical records it is suggested that the scope of the VACTERL association should be enlarged by this malformation. Thus the R in VACTERL would stand not only for renal defects but als for rib anomalies. Furthermore, the spectrum of anomalies could be extended by auricular defects (A = anal atresia and auricular defects). When one of these VACTERL components is found attention should be drawn to the possibility of the presence of the other associated anomalies. The developmentally correlated malformations seen in the VACTERL syndrome are generally sporadically observed. At the present time the etiology is unknown but heterogeneity is suggested. Although a causal relationship between maternal intake of progesteron/estrogen during the vulnerable period of embryogenesis and the VACTERL syndrome has been suggested, none of the mothers of our patients were exposed to these hormones during early pregnancy. Cytogenetic investigation in one patient and his mother showed a so-called marker chromosome 9 (C9qh+ variant) which is difficult to interpret at the present time.     

Morphologic contribution to a progeria syndrome (Hutchinson-Gilford) (author's transl)

Report of necropsy findings of a 17 years old girl with a progeria syndrome. There was a high degree of generalized atherosclerosis, involving the visceral arteries, chiefly those to the kidneys. The patient died of nephrosclerosis with uraemia. The aetiology of progeria syndrome remains obscure, single findings (lipoprotein- and amino-acid metabolism) may be understood as an inborn error of metabolism.     

Dumping-prophylaxis (author's transl)

The dumping syndrome is due to a vigorous reflex distension of the jejunum, caused by the stomach violently evacuating its contents. The aim of treatment is to overcome the drastic evacuation by restoring the rhythmic peristalsis of the stomach (eukinetics). This can be achieved by a special diet. Every meal should begin with well chewed solids (pulp) and avoid all fluids. With a well organised medical staff a complete success can be achieved. Surgical measures in Dumping can be avoided.     

Pancoast and Tobias syndrome of benign etiology (author's transl)

The authors report a case of Pancoast and Tobias syndrome due to a hydatic cyst on the apex of the left lung. This parasitosis is together with tuberculosis and least infrequent benign etiology of Pancoast and Tobias syndrome. In our observation it was a young cyst without complications as opposed to previously reported cases.