RESUMO
We present a 2-year-old boy and a 6-year-old girl with mild Canavan disease (CD). Aspartoacylase activity in skin fibroblasts was deficient. Magnetic resonance imaging (MRI) of the brain did not show the prominent leucodystrophy previously reported in CD, but there was a hyperintense signal from the lentiform nuclei and the heads of the caudate nuclei on the T2-weighted MR images. This suggests a specific vulnerability of the corpus striatum in these patients. In the older patient, the white matter became affected at the age of 6 years. Proton magnetic resonance spectroscopy (1H-MRS) of white matter revealed a normal concentration of N-acetyl-L-aspartate (NAA) and a markedly decreased concentration of choline containing compounds (Cho) in the boy but a normal ratio of NAA to Cho in the girl. We conclude that deficient NAA catabolism affects myelin metabolism. This may present as changes in the striatum and/or as a low concentration of Cho before leucodystrophy appears on MRI.
Assuntos
Doença de Canavan/diagnóstico , Amidoidrolases/deficiência , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Encéfalo/metabolismo , Doença de Canavan/enzimologia , Doença de Canavan/metabolismo , Criança , Pré-Escolar , Colina/metabolismo , Corpo Estriado/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Masculino , Proteínas da Mielina/metabolismoRESUMO
In a 14-years old girl, suffering from deep venous thrombosis protein C deficiency (activity: 55-58%) was diagnosed. Following rethrombosis oral anticoagulant therapy (OAT) with Phenprocoumon (Marcumar) was started. To find the required dosage for OAT the concentrations of prothrombin fragment (F1+2; < 0.5 nM/l) and fibrin monomers (< 2.5 mg/l) were measured. With this procedure an unusually high thromboplastin time (40-45%) was found to be safe.
Assuntos
Heparina/administração & dosagem , Femprocumona/administração & dosagem , Deficiência de Proteína C , Tromboflebite/prevenção & controle , Adolescente , Feminino , Fibrinogênio/análise , Humanos , Flebografia , Protrombina/análise , Tempo de Protrombina , Recidiva , Tromboflebite/sangueRESUMO
By means of 80 cases of connatal infections a fetal tachycardia will be observed without distinct relation to a fetal distress in 51.3% (in comparing to a fetal tachycardia in 19.5% without infection). Concluding there is to state, that a typical pattern is an increase of fetal heart frequency without decelerations during labour. This shall be the reason, to diagnose an obstetrical and neonatological infection.
