Acta paediatrica Scandinavica最新文献

A 1 5/12-year-old girl with hypophosphataemic vitamin D-resistant rickets was treated with initial massive doses of 1 alpha-hydroxy-vitamin D3 (1 alpha-OH-D3) alone. A dramatic improvement of bone lesions and growth rate and normalization of the characteristic biochemical defects were noted within four months after the start of massive 1 alpha-OH-D3 therapy. The results of this study suggest that early therapy with massive doses of 1 alpha-OH-D3 alone improves the radiological findings and restores to normal the biochemical defects and the growth rate as early as possible. This regimen may improve motor strength and endurance and obviate the need for corrective orthopaedic procedures.

A preterm baby given intravenous feeding developed severe rickets. Laboratory investigation revealed hypophosphatemia as the main cause of this picture. Recovery was achieved by giving extra phosphorus supplementation. This case demonstrates that conventional infusates do not meet the phosphorus requirement of rapidly growing infants.

Two siblings with multiple gastrointestinal atresias, from stomach to rectum, are reported. The pathological findings obtained from surgical material and complete autopsies are stressed. This syndrome, first described in 1973, presents a unique combination of clinical, radiologic and pathologic findings and is probably secondary to a malformative process taking place early in intrauterine life and effecting the whole gastrointestinal tract.

A four-month-old female presented with dehydration and an unexplained hypoelectrolytaemia and metabolic alkalosis in association with hyperreninaemia and hyperaldosteronism. These findings suggested Bartter's syndrome. Sweat sodium concentrations were within normal limits. Total skin water loss was estimated and found to be sufficient for the sodium loss in the sweat to exceed the dietary intake. Reinvestigation at three years revealed normal plasma electrolytes, plasma renin activity and aldosterone values but sweat sodium concentrations were in excess of 80 mmol/l, indicating a diagnosis of cystic fibrosis.

Rickets was diagnosed in an extremely low-birthweight infant 16 weeks after birth. She had a normal plasma concentration of 25-hydroxyvitamin D, a relatively low level of 24,25-dihydroxyvitamin D, and a markedly elevated 1,25-dihydroxyvitamin D level compared with adult standards. The plasma concentrations of the vitamin D metabolites were, however, indistinguishable from those of healthy preterm infants who received a similar diet of human milk and vitamins. The results indicate that rickets was not caused by vitamin D deficiency or by abnormal vitamin D metabolism, but by calcium and/or phosphate deficiency, and that the calcium and phosphorous content of human milk may be inappropriately low for very low-birthweight infants.

A short-limbed, normocephalic type of campomelic dwarfism is reported in a 1-year-old boy. The pertinent literature on this subject is briefly reviewed.

The children of mothers who smoked during pregnancy (n = 1819) and their controls, all born in northern Finland in 1966, were followed up to the age of 14. The children of the smokers were more prone to respiratory diseases than the others. They were also shorter and their mean ability at school poorer than among the controls. The differences remained significant after adjusting for the mother's height and age, social class as determined by the father's occupation, number of older and younger children in the family and the sex of the child. The smoking mothers were found to differ from their controls in each social class, in contrast to the situation at the time of pregnancy, now having on average poorer health, being more often unemployed and having more often left their families. Maternal smoking was still seen to have an effect on the children's physical and mental development, even when these factors were also taken into consideration in the regression analyses, although it was less important than many other socio-biological factors, and it was no more important than paternal smoking.

Oedema fluid was collected from the leg through a sterile 21 gauge needle inserted into the subcutaneous space in 12 patients with protein energy malnutrition, 12 with nephrosis, 5 with Indian childhood cirrhosis, 4 with acute nephritis, 4 with epidemic dropsy and 3 with congestive heart failure. The concentrations of protein, free amino acids and electrolytes were measured in plasma and oedema fluid. The plasma/oedema fluid ratios were 36:1, 49:1, 32:1 and 52:1 in protein energy malnutrition, nephrosis, Indian childhood cirrhosis and congestive heart failure. These ratios were significantly smaller in epidemic dropsy (4:1) and acute nephritis (21:1). The free alpha amino nitrogen concentrations in these two compartments were almost in equilibrium. This was also found for essential and non-essential amino acid distributions in protein energy malnutrition and nephrosis, whereas differences in amino acid patterns were found in nephritis and epidemic dropsy. Sodium and potassium concentrations varied substantially between diseases where the underlying cause was gross hypoproteinemia compared to non-hypoproteinemic conditions.

The significance of small additional metacentric chromosomes is still unclear. A patient is reported with multiple congenital malformations involving craniofacial structures, the cardiovascular system and gastrointestinal tract, in whom an extra small bisatellited chromosome was detected. The maternal karyotype revealed a marker number 9 chromosome. These cases present a true diagnostic dilemma in genetic counseling, since chromosomal instability may occur in the presence of parental minor structural chromosomal changes.