The haemorrhagic lupus anticoagulant syndrome (acquired hypoprothrombinaemia lupus anticoagulant syndrome) is a rare presentation of acquired bleeding diathesis in childhood. Since most cases in post-infectious children are asymptomatic, it might be underdiagnosed. In children with newly appearing bleeding symptoms or unclear prolonged prothrombin time or activated partial thromboplastin time, one has to consider this syndrome which could lead to relevant bleeding.
Objective: In order to provide aid for prenatal counseling in fetal isolated ventriculomegaly (IVM) on ultrasound, we recorded the latest long-term clinical and imaging outcomes of children with a mean age of 7.2 years (range 2.1-14.6). Methods: In 72 fetuses with IVM, diagnosed between 1999 and 2011, the measurement quality of atrial diameter was reviewed in the axial plane. We assessed the association of characteristics of IVM with outcome parameters in the cohort and in subgroups. Prognostic values of significant associations were reported by receiver operating characteristic curve analysis. Results: Cerebral anomalies were diagnosed postnatally in 42% and genetic disorders in 12% of 45 live births. Significant associations of outcome parameters were found between the degree of IVM and genetic disorders (p = 0.017) with an area under the curve (AUC) of 0.866, and between progression of IVM and motor impairment (p = 0.024) with an AUC of 0.789. No significant correlation was found with the other assessed outcome parameters. Furthermore, our subgroup analysis clearly showed that, if cerebral or genetic anomalies are not found postnatally, a favorable outcome may be expected. Discussion: Diameter and progression in IVM are not significantly associated with most outcome parameters. Cerebral anomalies and genetic disorders may contribute to an unfavorable outcome.
L’association d’anomalies développementales du cerveau, de la peau et des yeux a été résumée en 1932 par l’ophtalmologue néerlandais Jan van der Hoeve sous le terme de phacomatoses. Il y incluait les neurofibromatoses, la sclérose tubéreuse et plus tard la maladie de von Hippel-Lindau. En même temps de l’autre côté de l’Atlantique, Paul Ivan Yakovlev et Riley H. Guthrie proposèrent le terme de maladie neurocutanée, étant arrivés à la conclusion que les malformations de l’ectoderme (peau, cerveau, rétine, œil), comme c’est le cas pour la neurofibromatose, la sclérose tubéreuse ou le syndrome de Sturge-Weber, ont souvent en commun des manifestations cutanées, des troubles cognitifs et une épilepsie. Ils ont aussi constaté que la peau est souvent une ouverture diagnostique vers le système nerveux central, ce qui est toujours le cas.
Die Assoziation von Entwicklungsanomalien von Hirn, Haut und Augen wurde 1932 vom Niederländer Ophthalmologen Jan van der Hoeve unter dem Begriff Phakomatosen zusammengefasst. Er gruppierte darunter die Neurofibromatose, die Tuberöse Sklerose und später die von Hippel-Lindau Erkrankung. Zeitgleich schlugen Paul Ivan Yakovlev und Riley H. Guthrie auf der anderen Seite des Atlantiks den Begriff Neurokutane Erkrankungen vor, geprägt durch ihre Erkenntnisse, dass kongenitale Fehlbildungen des Ektoderms (Haut, Hirn, Retina, Auge) wie bei der Neurofibromatose, der tuberösen Sklerose oder dem Sturge-Weber-Syndrom klinisch häufig die Gemeinsamkeiten von Hautmanifestationen, kognitiver Beeinträchtigung und Epilepsie aufwiesen. Sie erkannten auch, dass die Haut ein diagnostisches Fenster zum zentralen Nervensystem ist, was auch heute noch zutrifft.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.