Hereditary angioedema (HAE) is a life-threatening disease characterized by recurrent episodes of subcutaneous and mucosal swellings and abdominal cramping. Corticosteroids and antihistamines, which are usually beneficial in histamine-induced acquired angioedema, are not effective in HAE. Therefore, diagnosing HAE correctly is crucial for affected patients. We report a family from Northern Germany with six individuals suffering from recurrent swellings, indicating HAE. Laboratory tests and genetic diagnostics of the genes SERPING1 , encoding C1 esterase inhibitor (C1-INH), and F12, encoding coagulation factor XII, were unremarkable. In three affected and one yet unaffected member of the family, we were then able to identify the c.988A > G (also termed c.1100A > G) mutation in the plasminogen ( PLG) gene, which has recently been described in several families with HAE. This mutation leads to a missense mutation with an amino acid exchange p.Lys330Glu in the kringle 3 domain of plasminogen. There was no direct relationship between the earlier described cases with this mutation and the family we report here. In all affected members of the family, the symptoms manifested in adulthood, with swellings of the face, tongue and larynx, including a fatal case of a 19 year-old female individual. The frequency of the attacks was variable, ranging between once per year to once a month. In one individual, we also found decreased serum levels of plasminogen as well as coagulation factor XII. As previously reported in patients with PLG defects, icatibant proved to be very effective in controlling acute attacks, indicating an involvement of bradykinin in the pathogenesis.

The LiLa classification is suitable and in most cases user-friendly for classifying long bone fractures in children. Reliability is higher than in established fracture specific classifications and comparable to the AO classification of pediatric long bone fractures. Some mistakes were due to a low quality of the X-rays and some due to difficulties to classify the fractures themselves. Improvements include a more precise definition of the metaphysis and the kind of displacement. Overall the LiLa classification should still be considered as an alternative for classifying pediatric long bone fractures.

Between October 2005 and September 2006, 77 supracondylar fractures were treated. According to the classification of von Laer 31 were type I (no displacement), 14 type II, nine type III, and 23 type IV (wide displacement). 34 of them required operative treatment due to nine type III and 23 type IV displacements, as well as two cases with (unstable) type II. In all patients treated surgically, the elbow angle was successfully restored. At follow-up after 8-14 months, 32 had regained full range of motion. In two children, extension/flexion was 0-10-120 degrees and 0-10-140 degrees , respectively. Two deficits of the ulnar nerve due to the operation as well as one deficit of the median nerve and the radial nerve due to the initial trauma recovered completely. According to the Flynn Score 32 patients had an excellent outcome; one result was classified as good and one as satisfactory. On the Mayo Performance Score all patients reached 100 of 100 points.