[Fever and skin hemorrhages in children--is it meningococcal disease?]. / Feber og hudblødninger hos børn--er det meningokoksygdom?

INTRODUCTION: Our main aims were to establish criteria for early distinction between meningococcal disease and other conditions with similar clinical features, and to identify other causes of haemorrhagic rashes accompanied by fever. MATERIALS AND METHODS: This prospective study comprised 264 infants and children hospitalised with fever and skin haemorrhages. RESULTS: We identified an aetiological agent in 28%: 15% had meningococcal disease, 2% another invasive bacterial infection, 7% enterovirus infection, and 4% adenovirus infection. Five clinical variables discriminated meningococcal disease from other conditions on admission: skin haemorrhages of (1) characteristic appearance; (2) universal distribution and (3) a maximum diameter of > 2 mm; (4) poor general condition; and (5) nuchal rigidity. DISCUSSION: If any two or more of these clinical variables were present, the probability of identifying a patient with meningococcal disease was 97% and the false-positive rate was only 12%. This diagnostic algorithm did not identify children in whom septicaemia was caused by other bacterial species.

[Chronic pulmonary alterations in children with long-lasting productive cough]. / Kroniske lungeforandringer hos børn med langvarig produktiv hoste.

A productive (sounding) cough is always abnormal, and suppurative lung disease should be considered. A chronic suppurative cough may be associated with the destruction of the bronchial wall (bronchiectasis). The most commonly identifiable cause of suppurative cough is cystic fibrosis. This article, which is accompamied by an illustrative CT-scan, describes two paediatric cases of cystic fibrosis and primary ciliary dyskinesia and suggests appropriate avenues of clinical investigation, when chronic suppurative cough presents in children.

Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations.

We report on a liveborn infant with trisomy 10 mosaicism combined with maternal uniparental heterodisomy for chromosome 10. The mosaicism 47,XY,+10/46,XY was found in five different tissues, including one blood sample, while cultured lymphocytes from two other blood samples showed a normal karyotype, 46,XY. DNA analysis with six PCR-based microsatellite markers demonstrated the trisomic cell line to be a result of maternal meiotic nondisjunction, and revealed maternal uniparental heterodisomy in the diploid cell line, suggesting that the formation of the diploid cell line was due to trisomy rescue. The boy had severe growth retardation, major dysmorphism, and malformations, and died at 37 days. We reviewed the previous nine reports of infants and fetuses with trisomy 10 mosaicism reported in the literature. We suggest that a common clinical syndrome can be defined comprising skull, jaw and ear abnormalities, cleft lip/palate, malformations of eyes, heart and kidneys, deformity of hands and feet, and most often death neonatally or in early infancy. The cytogenetic findings in the present patient demonstrate the importance of karyotyping more than one tissue, and not only lymphocytes, when a chromosomal aberration is strongly suspected.