BackgroundIn this study, we examined the efficacy and safety of a once-daily dosage schema of colchicine compared with a twice-daily dosage schema in pediatric patients with familial Mediterranean fever (FMF).MethodsIn this 24-week, multicenter, randomized controlled noninferiority trial, pediatric patients newly diagnosed with FMF carrying a homozygous or compound heterozygous mutation and not receiving any treatment were included. Patients were randomly assigned using a block randomization method to receive treatment with a once- or twice-daily dosage. Clinical and laboratory characteristics and medication side effects were recorded and compared between groups. The study was carried out in compliance with Good Clinical Practice and the Consolidated Standards for Reporting of Trials (CONSORT) statement.ResultsA total of 92 patients were selected, and 79 patients completed the study. There were 42 patients in the once-daily dosage group and 37 in the twice-daily dosage group. The results indicated that the once-daily dosage was not inferior to the twice-daily dosage regarding decrease in attack frequency and duration as well as improvement in clinical findings and Mor severity scores. Alterations in laboratory findings indicating inflammation, such as erythrocyte sedimentation rate, C-reactive protein, and serum amyloid A, were similar in both groups. The rates of drug side effects were similar between the once- and twice-daily dosage groups, implying comparable safety of colchicine, with the exception of diarrhea, which was slightly higher in the once-daily dosage group.ConclusionsUsing colchicine with either a once- or twice-daily dosage provides similar clinical and laboratory improvements. Considering both efficacy and safety, colchicine can be prescribed with a once-daily dosage.Trial Registration IDClinicalTrials.gov identifier NCT02602028. Registered 5 November 2015.

Adrenal hypoplasia congenita (AHC) is a rare disorder. The X-linked form is related to mutations in the DAX1 (NROB1) gene. Here, we report a newborn who had a novel hemizygous frameshift mutation in DAX1 (c.543delA) and presented with primary adrenal failure that was initially misdiagnosed as congenital adrenal hyperplasia. This report highlights the value of genetic testing for definite diagnosis in children with primary adrenal failure due to abnormal adrenal gland development, providing the possibility both for presymptomatic, and in cases with a sibling with this condition, for prenatal diagnosis.Conflict of interest:None declared.

s frequently delayed. One study demonstrated a mean delay to diagnosis of 1.7 years. Vague abdominal symptoms including chronic abdominal pain, intermittent non-bilious vomiting, diarrhoea and failure to thrive have been associated with malrotation, but hiccups and laughter have not previously been described. Recent review of diagnostic imaging recommended ultrasound as the investigation of choice, and may advocate its use in the work up of children presenting with non-specific abdominal symptoms. Although debated in the literature, a Ladd's procedure is recommended for all children, even if asymptomatic. Conclusion Children with intestinal malrotation present us with a diagnostic challenge, but a low threshold of suspicion in patients presenting with vague abdominal symptoms, including intractable hiccups or vomiting, may ensure these children receive the timely surgical intervention.