Das Bardet-Biedl-Syndrom (BBS) ist eine seltene, autosomal-rezessiv vererbte Multisystemerkrankung. Pathophysiologisch liegt eine Funktionsstörung des Primärziliums vor. Die Klinik ist heterogen und variabel und zeigt sich insbesondere in einer Retinadystrophie, Adipositas, Polydaktylie, Nierenauffälligkeiten, Hypogonadismus und Entwicklungsverzögerungen. Mit der Zulassung des Melanocortin 4-Rezeptor-Agonisten Setmelanotid kann erstmals eine medikamentöse Therapie der BBS-assoziierten Hyperphagi...

Background Several previous studies have reported a more severe course of nephrotic syndrome in children with low birth weight.

Patients Cohort of 223 children with idiopathic nephrotic syndrome.

Methods We aimed to investigate the association between course of nephrotic syndrome and low birth weight. Data from seven paediatric nephrology centres were used.

Results Children with low birth weight had 3.84 times higher odds for a more severe course of steroid-sensitive nephrotic syndrome (95% CI 1.20–17....

Introduction Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome (PFAPA) is the most common periodic fever condition in children. There is no consensus on treatment to prevent attacks and reduce their frequency. In this study, we aimed to evaluate the effectiveness of colchicine treatment in PFAPA syndrome. In addition, we described the demographic and clinical features of PFAPA patients.

Materials and Methods We retrospectively analyzed 58 PFAPA patients who were start...

MOGAD (+=+myelin oligodendrocyte glycoprotein antibody-associated disease) is a rare inflammatory disease of the central nervous system (incidence 0.16/100,000/year), which is predominantly associated with demyelination of the optic nerve and spinal cord, and disseminated encephalitis (De Mol Cl et al., Mult Scler 2020; 26: 806–814). It is estimated that about 30% of demyelinating events in children are caused by MOGAD (Hennes E et al. Neuropediatrics 2017; 49, 3–11).

Diagnostic criteria include ...

According to the 2020 CDC criteria, multisystem inflammatory syndrome in children (MIS-C) due to Coronavirus disease-19 (COVID-19) is diagnosed when all of the following criteria are met: fever for+≥+24 hours, laboratory evidence of inflammation, multisystem (+≥+2) organ involvement, evidence of SARS-CoV-2 infection or exposure, and no alternative plausible diagnoses (CDC, 2020). Alternative diagnosis need to be excluded before coming upon an MIS-C diagnosis since there are plenty of infectious ...