Down syndrome and coeliac disease: five new cases with a review of the literature.

We report five new patients with coeliac disease and Down syndrome and review the 11 cases previously reported in the literature. In 14 of these 16 patients diarrhoea was the presenting symptom and in 2 failure to thrive in combination with anaemia. The frequency of coeliac disease in children with Down syndrome was calculated as being 43 times greater than in children without Down syndrome. Delay between first symptoms and diagnosis in patients with combined coeliac disease and Down syndrome was 2.5 years, while in the other children with coeliac disease it was only 8 months. This distinctive difference could be caused by an underestimation of the seriousness of gastro-intestinal complaints in patients with Down syndrome. It is stressed that coeliac disease should be strongly considered in all children with Down syndrome and either persistent diarrhoea or failure to thrive.

[Type II multiple endocrine neoplasms (MEN IIB): an unusual cause of constipation. A plea for early thyroidectomy]. / Multiple endocriene neoplasieën type II (MEN IIB): een ongewone oorzaak van obstipatie. Een pleidooi voor vroege thyreoïdectomie.

We present a 5 year old girl who was diagnosed to have multiple endocrine neoplasia syndrome type IIB (MEN IIB). She presented with serious constipation and had the distinct features of MEN IIB. 100% of the patients with MEN IIB develop medullary thyreoïd carcinoma (MTC). MTC in MEN IIB is known to behave in a very aggressive way. Microscopically MTC was already present in this patient despite of normal calcitonin stimulation tests. Accordingly we plead for a more radical management relating to thyreoïdectomy in MEN IIB.

Serum IgG and IgA anti-gliadin antibodies as markers of mucosal damage in children with suspected celiac disease upon gluten challenge.

Serum anti-gliadin antibodies (AGAs) of the IgG and IgA isotypes were determined in 17 children (mean age of 5.6 years) by means of an enzyme-linked immunosorbent assay (ELISA). All children were suspected of celiac disease. They had been on dietary treatment for at least 10 months before they were challenged with gluten. Based on jejunal biopsy findings, 10 of the 17 children had to be considered positive. The sensitivity of the measurement of AGA at 6 weeks after gluten challenge was found to be 90% for IgG, 100% for IgA, and 100% for IgG/IgA combined. The specificity for IgG, IgA, and the IgG/IgA combination was 100, 71, and 100%, respectively. Twelve weeks after gluten challenge, the sensitivity as well as the specificity of AGA determination for IgG, IgA, and IgG/IgA were 100%. It is concluded that testing both IgG AGA and IgA AGA in children suspected of celiac disease is valuable in monitoring the course of the diagnostic provocation protocol and that jejunal biopsies can be abolished. This inexpensive tool can be useful in reducing the number of intestinal biopsies.

[Feeding problems in infants with bronchopulmonary dysplasia and other chronic respiratory disorders]. / Voedingsproblemen bij zuigelingen met bronchopulmonale dysplasie en andere chronische respiratoire aandoeningen.

Long lasting feeding problems can occur in children who, in the neonatal period, needed intensive treatment for severe respiratory disease. In some of these children long-term (months) gavage feeding is needed. Retrospectively a group consisting of 16 children with extended feeding problems after neonatal respiratory disease was examined. The results are being described in this article.

[Protein requirements of young infants. The effect of protein content in food on growth, protein intake and protein utilization]. / De eiwitbehoefte van de jonge zuigeling. Het effect van het eiwitgehalte in de voeding op de groei, de eiwitopname en de eiwitbenutting.

The protein content of human breastmilk as given by different authors does not agree very well (table I). This may be caused by the stage of lactation and the nutritional state of the mother, which influences the composition of the milk. Likewise there is no agreement in literature concerning the recommended minimum protein level in infant formulae (table II). Generally the protein level in infant formulae is significantly higher than in human breastmilk. In our experiments the growth of new-born infants fed on a formula with a rather low protein level (1,4 g/100 ml) and with an average protein level (1,9 g/100 ml) was compared (table IV). The experimental stage covered the age from 4 weeks up to and including the twelfth week. In the first four weeks of life the infants were breast-fed; after twelve weeks some additional food was given. Both weight and length were recorded of boys as well as girls. No statistically significant differences were observed on the two different formulae. The growthcurves fit very well with the growth of the Dutch infants (graphics). The average weight increase was under all circumstances somewhat higher on the milk with the lower protein content, these differences however were statistically not significant (table V). No significant differences were seen in the food-intake (table VI and VII). The average food efficiency (weight gained per 100 ml of food) was always the highest on the low protein formula. This effect is however not statistically significant. The food efficiency decreased with increasing age. Boys showed a higher food efficiency than girls. The protein intake (grams per kg bodyweight) was of course lower with the low protein formula (table IX). From an average weight increase of about 30 g a day (table V) and the average protein content of the infant, an average protein increment of 3,4 grams a day was calculated. This means that at a body weight of 3500 grams and a milk-intake of 150 ml/kg a day the protein-intake will be respectively 7,4 and 10,0 grams a day with formulae of respectively 1,4 and 1,9 g protein/100 ml. These daily intakes diminished with the daily protein increment of the infant lead to an amount of respectively 7,4 minus 3,4 leaving 4,0 and 10,0 minus 3,4 leaving 6,6 grams of protein that must be metabolized and must be excreted with the urine respectively as 23 mmol and 38 mmol of urea.(ABSTRACT TRUNCATED AT 400 WORDS)

5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers--a new inborn error of the gamma-glutamyl cycle.

Two brothers, aged 16 and 11 years, had recurrent episodes of vomiting, diarrhoea and abdominal pain, starting in infancy. In spite of extensive investigations no cause of their enterocolitis could be established. After several years symptomatic treatment was discontinued without any recurrence of symptoms. Their father and several paternal relatives have had kidney stones. Both boys developed urolithiasis and an oxalate-containing stone was removed from the elder brother's kidney. He had no hypercalciuria. His glomerular and tubular function tests were normal. Gas chromatography of urine from both brothers revealed massive excretion of L-5-oxoproline (pyroglutamic acid). Glutathione levels in erythrocytes of both patients were normal. The activities of enzymes of the gamma-glutamyl cycle were analysed in erythrocytes, leukocytes and cultured skin fibroblasts. The level of glutathione synthetase was normal, as was the affinity of this enzyme for its substrate gamma-glutamyl-cysteine. Feedback inhibition of gamma-glutamyl-cysteine synthetase by glutathione was also normal. Both patients had a specific deficiency of 5-oxoprolinase, the activity of which was 2-4% of that of control subjects. Their parents had intermediate 5-oxoprolinase activities in fibroblasts, indicating a recessive mode of inheritance. Thus, 5-oxoprolinuria in these two patients was due to a lack of 5-oxoprolinase, i.e., a new inborn error in the gamma-glutamyl cycle.

[Malabsorption]. / Malabsorption

Various forms of malabsorption may be differntiated by quantitiative determination of fats, nitrogen and lactic acid in feces. Increased excretion of lactic acid may also be caused by bacterial degradation of intestinal mucus.

A study of somatopsychic vulnerability in encopretic children.

In this article the results of a study to determine the degree of somatopsychic vulnerability in children with encopresis are discussed. A checklist was constructed for the registration of somatic and functional data relevant to encopresis. Twenty-five children with encopresis were compared with a control group. The expectation of the authors that a number of somatopsychic phenomena would occur more frequently among encopretics than among non-encopretics could not be confirmed. It appeared that somatic and psychic diseases were more frequent in the families of the children with encopresis than in the control group.