Young adolescent with trisomy 13.

A young adolescent girl with trisomy 13 was admitted twice to the paediatric department: the first time because of haematocolpos due to uterus didelphys and unilateral transverse vaginal septum, and the second time because of heart failure due to ruptured sinus of Valsalva aneurysm. As a consequence of the historical early high mortality rate in trisomy 13, we are not aware of known complications in older patients. With better survival nowadays through childhood, we advise structural ultrasonographic cardiac and female genital screening in trisomy 13 patients reaching adolescent age.

[A toddler with a rare complication of scarlet fever]. / Een peuter met een zeldzame complicatie van roodvonk.

BACKGROUND: Haemolytic group A streptococci (GAS) are the most common bacterial cause of infection in the Netherlands. These bacteria can cause many different non-invasive infections, including scarlet fever. CASE DESCRIPTION: A two-year-old girl presented with fever, tachycardia, exanthema and swelling in the neck. On suspicion of scarlet fever with neck phlegmon we treated her with antibiotics and supportive therapy. Blood and throat cultures revealed growth of haemolytic GAS. Lab tests revealed mild hyperthyroidism and neck ultrasound revealed an inhomogeneous appearance of the thyroid. We diagnosed her with 'infectious thyroiditis', a rare complication of infection with haemolytic GAS. A fistula from the pyriform sinus could not be demonstrated. CONCLUSION: Although GAS infections are common, complications such as thyroiditis are rare. When a paediatric patient is diagnosed with infectious thyroiditis, a fistula from the pyriform sinus should be considered. Patients with such a congenital malformation have an increased risk of recurrent infectious thyroiditis and thyroid abscess formation.

Reference intervals for renal injury biomarkers neutrophil gelatinase-associated lipocalin and kidney injury molecule-1 in young infants.

BACKGROUND: Reliable reference intervals for two novel urinary biomarkers of renal injury, neutrophil gelatinase-associated lipocalin (uNGAL) and kidney injury molecule-1 (uKIM-1) are lacking for infants. Therefore, the aim of our study was to establish reference intervals for urinary NGAL and KIM-1 absolute concentrations as well as normalized to urinary creatinine in young infants categorized in small age intervals. METHODS: From June 2010 to March 2014, serum and urine samples of 106 basically healthy infants (born between 37 and 42 weeks of gestation) aged 1 day to 1 year were collected. Blood samples were assayed for serum creatinine levels to confirm a healthy renal status. Urine samples were assayed for creatinine, uNGAL (ng/mL) and uKIM-1 (ng/mL). RESULTS: Two thirds of the study cohort were boys. uNGAL concentrations declined with increasing age (likelihood ratio test, p=0.001). Also, uNGAL concentrations were higher in girls (50th centile uNGAL was 27.1 ng/mL) than boys (50th centile uNGAL was 14.3 ng/mL) (two tailed Wald test, p<0.001) NGAL concentrations were not related to ethnicity. uKIM-1 concentrations were extremely low in almost all 106 subjects [median uKIM-1 was 0.08 (IQR 0.08-0.08) ng/mL] and not related with age, gender or ethnicity (all p>0.05). CONCLUSIONS: Our data uniquely provide uNGAL and uKIM-1 reference intervals for the first year of life. Notably, only uNGAL levels decreased with increasing age and were higher in girls. These reference intervals enable future studies to evaluate the performance of both biomarkers in detecting early kidney tubular injury, particularly in the setting of critical care.