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AIM: Ultrasound is the method of choice for the diagnosis of hypertrophic pyloric stenosis (HPS). The purpose of this study was to evaluate the usefulness of sonography in monitoring the efficacy of conservative therapy of HPS with intravenous atropine sulfate. METHOD: 21 infants with HPS under i.v. treatment with atropine sulfate were included. Pyloric sonomorphology, channel width and passage of gastric contents through the pyloric channel were monitored daily. The latter was examined with colour Doppler, too. If no clinical improvement was observed after 6-8 days, sonography and colour Doppler sonography played a crucial role in the decision whether to continue the conservative therapy or to perform pyloromyotomy. RESULTS: Conservative treatment was effective in 13/21 infants. In 8 patients therapy was continued as sonography demonstrated the passage of gastric contents despite lack of clinical improvement. In 4 patients, due to the sonographic findings, impending surgery could be cancelled. Colour Doppler sonography proved to be extremely useful in demonstrating passage of liquid through the narrowed pyloric channel. No significant change in pyloric morphology was seen. CONCLUSION: In HPS a conservative therapeutic approach with atropine sulfate is justified considering a success rate of 62% (13/21). During sonographic monitoring the detection of the passing of gastric content may be crucial for continuation and success of conservative therapy. In those cases colour Doppler sonography is a very useful method.

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UNLABELLED: A neonate presented with clinical, biochemical, endocrine and radiographic features consistent with vitamin D deficiency rickets of maternal origin. Persistent hypocalcemia and subsequent development of pancytopenia, hemolysis and hepatosplenomegaly prompted further studies that led to the diagnosis of infantile osteopetrosis. CONCLUSION: Osteopetrosis is an important differential diagnosis of neonatal rickets and is not excluded by low vitamin D levels.

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BACKGROUND: Intestinal neuronal dysplasia (IND) of the colonic submucous plexus is considered to be a congenital malformation of the enteric nervous system causing symptoms resembling those of Hirschsprung's disease. In contrast with the established diagnosis of aganglionosis using enzyme histochemistry, controversy exists over the diagnostic criteria of IND on rectal biopsies previously defined by a consensus report and the causal relation between morphological findings and clinical symptoms. AIMS: The interobserver variability was prospectively investigated with respect to final diagnoses and several histological features in rectal biopsy specimens from children suspected of having colonic motility disturbances. METHODS: 377 biopsy specimens from 108 children aged 4 days to 15 years were independently coded without knowledge of clinical symptoms by three experienced pathologists for 20 histological features, and a final diagnosis was given for every case. Interobserver variation for the different items and the final diagnosis were analysed using Cohen's kappa statistic. Clinical data at biopsy and outcome after 12 months were related to morphological findings. RESULTS: The three pathologists agreed completely with respect to the diagnosis Hirschsprung's disease (kappa = 1), but in only 14% of the children without aganglionosis. In 15 (17%) of the 87 children without aganglionosis, at least one pathologist judged the case as normal, while another diagnosed IND. kappa values were close to the zero value expected by chance for the diagnoses normal and IND. Young age was related to the presence of several morphological features-for example, acetylcholine esterase staining and presence of giant ganglia. Children with chronic constipation diagnosed as having IND, given no other specific diagnosis by any of the pathologists, were significantly younger (median 8.8 months) and had a higher cure rate after one year (60%) than constipated patients considered by all observers to have no histological abnormalities (median 6.1 years, cure rate 23%). CONCLUSIONS: In contrast with Hirschsprung's disease, there is a high interobserver variation with regard to the different morphological features and final diagnosis of IND, based on the criteria and conditions of the previous consensus report. The high frequency of histological "abnormalities" in young infants suggests that some of the features may represent a normal variant of postnatal development rather than a pathological process. Investigations using more refined and morphometric methods in rectal specimens from infants and children without bowel disease are needed to define the normal range of morphological appearance at different ages. These preliminary data indicate that, with current knowledge, rectal biopsy for diagnostic purposes should only be performed in constipated children for diagnosis of Hirschsprung's disease.

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We report two infants with eosinophilic gastroenteritis (EG). This rare disease can mimic the clinical symptoms and US appearance of idiopathic hypertrophic pyloric stenosis (IHPS). US examination of the antropyloric region with a high-frequency linear transducer can assist in the differentiation of EG from IHPS, which is important because the therapeutic approaches are completely different. Eosinophilic gastroenteritis should be considered in the differential diagnosis of IHPS, especially when there has been an ineffective pyloromyotomy.

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Parvovirus B19 infection can cause a wide spectrum of disease syndromes. Two cases of parvovirus B19 infection were identified that resulted in life-threatening myocarditis shortly after acute infection in immunocompetent individuals. The diagnosis was made with serological and polymerase chain reaction techniques. One patient was successfully treated by heart transplantation. Sequence analysis showed that the parvovirus B19 cloned from the patients' sera had 99% homology with the prototype sequence. Clinicians should be alerted to the possible role of parvovirus B19 in myocarditis presenting in immunocompetent patients.

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The effects on isoelectrofocusing patterns of serum glycoproteins were studied in a patient with CDG syndrome type I and phosphomannomutase deficiency during 3 weeks of continuous intravenous mannose infusion. Doses of 5.7 g/kg/day led to stable serum mannose levels up to 2.0 mmol/l and were well tolerated without signs of liver or renal toxicity. While most of the pathological glycoprotein patterns, including alpha1-antitrypsin, typical for CDG syndrome type I remained unchanged, mannose infusion led to a unique change of the isoelectrofocusing pattern of serum sialotransferrins with appearance of two extra bands after 3 weeks of treatment.

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Clinical and biochemical effects of indomethacin were monitored in a patient with congenital chloride diarrhea (CCD) before and after 10 days of therapy. During indomethacin treatment, no clinical improvement could be achieved whereas hyperreninemia and hyperaldosteronism improved. Excretion rates of prostaglandin (PG) E2, PGF2 alpha, as well as PGE-M were found to be slightly raised and decreased during therapy with indomethacin. However, loss of electrolytes remained substantially unchanged. Prostaglandins, therefore, seem to play no important role in intestinal loss of electrolytes in CCD, and it is suggested that indomethacin is of no importance in the treatment of patients with CCD.

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Alveolar lipoproteinosis is a rare disease in childhood, and its outcome is considered unfavourable compared to adults. We report on the spontaneous improvement of the disease over a six-year period in a child now 13 years of age. At the time of diagnosis the vital capacity was reduced to 65% of the mean predicted for her height, but deteriorated to 40% during the following year. A bronchoalveolar lavage was performed with small amounts of fluid but it did not immediately reverse the pulmonary alterations. Contrary to expectation, in the following years there was a continuous and gradual increase of the vital capacity to 70% of the mean predicted without specific therapy. This observation underlines the importance of an individual approach to prognosis in this disease and contributes to discussion of therapeutic procedures in the paediatric age group.

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Neuronal intestinal dysplasia is defined as a structural disorder of the innervation of the gut which clinically resembles Hirschsprung's disease. Between 1977 and 1988 12 patients were diagnosed by enzyme histochemistry. In 3 of these patients Hirschsprung's disease was associated. Constipation was the main symptom in 6 patients with neuronal intestinal disease and in all three patients with associated Hirschsprung's disease. The other patients firstly presented with an enterocolitis, a congenital atresia of the jejunum and a chronic enteritis with malabsorption. The wide clinical variability and the lack of a clear therapeutic management valid for all patients is conspicuous.

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In 170 inherited diseases there exists the possibility for diagnosis at the DNA level. Using phenylketonuria (PKU) and cystic fibrosis (CF) as examples we demonstrate the capability of direct and indirect DNA-diagnosis through the use of DNA markers and allelespecific oligonucleotide hybridization respectively. In 88% of our PKU-patients and in 98% of the CF-patients DNA linkage analysis and therefore prenatal diagnosis on the DNA level can be carried out in affected families. The reliability of DNA-diagnosis is 99.0% for PKU and between 96.0-99.99% for CF depending on where the DNA-markers are localized. In contrast to CF, the PKU gene has been isolated and distinct mutations within the phenylalanine hydroxylase gene have been characterized. There is evidence for a correlation between genotype and clinical and biochemical phenotype. Also in CF it is indicated that certain DNA haplotypes correlate with the severity of the disease: less frequent haplotypes seem to be more often associated with a milder course than haplotype "B/B" which represents 85% of the CF chromosomes. Therefore DNA diagnostic methods not only make a major contribution to improved genetic counseling but also offer the possibility for a better future understanding of the heterogeneity of genetic diseases.

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We report on two children who were admitted with chronic ileus without mechanical obstruction. In the 4-month-old female newborn, high-dose radiation was applied after extirpation of a sympathicoblastoma. Within a few years a metaplasia of the muscle coat of the small intestine developed with a resulting malabsorption syndrome. Although the damaged part of the intestine was resected, the process progressed and the child died. In the second case, a chronic ileus developed at the age of 10 years as a result of fibrosis of the intestinal tract. Repeated laparotomies were performed, and no mechanical obstruction could be found. The most probable diagnosis is a form of scleroderma affecting mainly the alimentary tract without any skin involvement. The patient died in a severe cachexia.

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Allelic association between cystic fibrosis and two linked markers is demonstrated in a sample of 55 German families. It is shown by example how these observations can be used for genetic risk calculation.

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Clinical, biochemical, functional and morphological data are presented in nine infants, children and adults, with Fanconi-Bickel syndrome. Long-term follow-up studies show severe growth retardation, partly compensated for by late onset of puberty. Glomerular filtration rate is normal or slightly decreased. Renal tubular dysfunction is characterized by a specific pattern of impaired proximal tubular transport mechanisms, with marked impairment of glucose transport. The utilization of glucose and galactose is defective, whereas fructose metabolism seems to be normal. Glycogenosis of the liver may be an epiphenomenon. Glycogen accumulation in the kidney is limited to the proximal tubule, with maximal levels in the straight part. The Fanconi-Bickel syndrome is a defined clinical entity which is distinguished from other inherited metabolic diseases by complex defects of renal tubular transport and other forms of glycogenosis.

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The 11;22 translocation seems to be the most frequent, non-Robertsonian, translocation in man. Approximately 50 cases with an unbalanced karyotype 47,XX (or XY),+der(22), t(11q;22q), due to a 3:1 meiotic disjunction in the parental translocation carrier, have been reported in the literature. We present an additional patient with that chromosome aberration, whose father was shown to be the translocation carrier. He presented with many of the more or less typical signs of the syndrome, but had an extraordinary additional finding, namely Hirschsprung disease. Although anal stenosis is a rather frequent finding in the syndrome, Hirschsprung disease has never been described in the literature. Furthermore the most important genetic and cytogenetic data on that chromosome aberration are given, including implications for genetic counselling.

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The activity of alkaline phosphatase activity in the small intestinal wall was studied in dogs after jejunectomy. The observations were made 3, 6, 8 or 9 and 12 weeks after operation. The studies aimed to obtain some information about the functional adaptation processes of the remaining intestinal segments. The enzyme activity in homogenates of duodenal and ileal mucosa was determined. Parallel interferometric measurements in the brush border and on the surface of the absorptive cells were performed. The results obtained indicate that after temporary reduction (especially 6 weeks postoperatively) a gradual rise of the alkaline phosphatase activity both in homogenates and in the brush border of the intestinal remnants took place. Several times repeated biopsies confirmed the ability of the intestinal segments (duodenum and distal ileum) significant increase in enzyme activity over the normal (control) level was observed.

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In a girl with idiopathic de Toni-Debré-Fanconi syndrome associated with psychomotor retardation, severe renal tubular dysfunction was observed from the first day of life. At the age of 21/2 and 4 years the glomerular filtration rate (GFR) was only 60 ml/min/1.73 m2. No tubular transport of glucose, phosphate, paraaminohippurate and amino acids could be demonstrated. The tubular handling of uric acid, potassium and calcium, was also disturbed. Renal net acid excretion was zero at a plasma bicarbonate level of 14 mmol/l. Urinary osmolality ranged between 88 and 680 mosmol/kg. During hypotonic saline diuresis GFR decreased further; a GFR of 19 ml/min/1.73 m2 was accompanied by a fractional distal sodium delivery of 96.5% and a fractional free water clearance of 73%. In a renal biopsy specimen the proximal tubular cells showed variations in height with dedifferentiation and a widespread absence of brush border on electron microscopy. This formerly undescribed tubulopathy offers a unique chance to investigate glomerulo-tubular balance, adaptive mechanisms of distal tubular transport and renal metabolism under conditions where an apparently unchanged ultrafiltrate is offered by the proximal tubule to the loop of Henle and to a primarily intact distal tubule.

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26 children with acute symptoms of Crohn's disease were treated with steroids and sulfasalazine (group A, 9 patients), with an elementary diet and sulfasalazine (group B, 10 patients), or with an elementary diet together with steroids and sulfasalazine (group C, 7 patients). Mean ages in each group were very similar, and treatment periods lasted 41.3 +/- 23.5, 37.4 +/- 12.7, and 36.9 +/- 9.1 days in group A, B and C, respectively. During treatment the sedimentation rate and the frequency of defecation decreased significantly in each group. Leucocytes in plasma fell to normal levels in group B but increased slightly in group A and C. Total proteins in plasma rose in group B and C but declined in group A. The body weight increased in each group but differences before and after treatment were significant only in group B and C. The findings suggest that children with active Crohn's disease may benefit from treatment with an elementary diet. Patients with an elementary diet showed significantly more weight gain than patients on steroid treatment. Besides nutritional effects a lower activity of inflammation was also noted.

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