Introduction: Everolimus is a new treatment option for patients with tuberous sclerosis complex (TS) but data are still limited.

Nierenvenenthrombosen sind die zweithaufigste thromboembolische Erkrankung in der Neonatalperiode (1). Neben maternalem Diabetes mellitus, peripataler Asphyxie, Polyzythamie, zyanotischen Herzfehlern, Sepsis und Nabelvenenkathetern sind prothrombotische Risikofaktoren ursachlich zu finden. Am haufigsten werden Protein-Cbzw. -S-Mangel, Faktor-V-Leidenund homozygote Prothrombin-G20210A-Mutationen beschrieben (1–3). Wir berichten uber zwei Kinder mit Nierenvenenthrombose und MTHFR-Mutation.

Aims: Mitochondriopathies are an important differenzial diagnosis of infantile muscular hypotonia. Patients with combined defects of the respiratory chain enzyme complexes should undergo investigations for mtDNA depletion syndromes (MDS). Among MDS different nuclear gene defects have been associated with different clinical phenotypes. Only a few patients with RRM2B mutations have been described. We report on an infant with MDS and cerebrorenal phenotype with severe central hypomyelination, early fatal outcome, and a novel mutation of the RRM2B gene.

Introduction: Nervous system manifestations in systemic lupus erythematodes (SLE) can occur at any time of the disease and are described in up to 91% of adult cases. The prevalence in juvenile patients is not known. Cognitive dysfunction, mood disorders and headache are the most common problems followed by cerebovascular disease and seizures. Myelopathy and polyneuropathy are infrequent. We report on the spectrum of neuropsychiatric symptoms in 6 juvenile SLE patients.