scispace - formally typeset
Search or ask a question

Showing papers in "European Journal of Pediatrics in 1994"


Journal ArticleDOI
TL;DR: Clinical entities caused by mutations in the COL2A1 gene coding for type II collagen comprise achondrogenesis II, hypochondrogenesis, spondylo-epiphyseal dysplasia congenita, Kniest Dysplasia, Stickler arthro-opthalmopathy and mild dominant spondYLoarthropathy.
Abstract: With the application of molecular techniques the aetiopathogenesis of skeletal dysplasias is gradually elucidated. Recent advances show that some bone dysplasias result from defects in the biosynthesis of type II (cartilage) collagen. Clinical entities caused by mutations in the COL2A1 gene coding for type II collagen comprise achondrogenesis II, hypochondrogenesis, spondylo-epiphyseal dysplasia congenita, Kniest dysplasia, Stickler arthro-opthalmopathy and mild dominant spondyloarthropathy. The mutations are expressed in the heterozygous state, and inheritance of type II collagenopathies is autosomal dominant. The wide range of clinical manifestations is not well understood but characterization of the basic defect may provide clues to establish specific genotype-phenotype correlations.

243 citations


Journal ArticleDOI
TL;DR: The most common gonad in patients with true hermaphroditism, an ovotestis, was found in 44.4% of 568 gonads, and Histologically the testicular tissue was described to be immature and only twice was spermatogenesis reported while the ovarian portion often appeared normal.
Abstract: We reviewed 283 cases of human true hermaphroditism published from 1980 to 1992. Of the 96 cases described in Africa 96.9% showed a 46,XX karyotype. In Europe 40.5% of 74 cases and 21.0% of the patients in North America had chromosomal mosaicism. The 46,XY karyotype is extremely rare (7%) and equally distributed through Asia, Europe and North America. Of 283 cases 87 were of black or black mixed origin with a 46,XX chromosomal constellation. The most common gonad in patients with true hermaphroditism, an ovotestis, was found in 44.4% of 568 gonads. Gonads with testicular tissue were more frequent on the right side of the body, while pure ovarian tissue was more common on the left. Histologically the testicular tissue was described to be immature and only twice was spermatogenesis reported while the ovarian portion often appeared normal. This coincides with 21 pregnancies reported in ten true hermaphrodites while only one true hermaphrodite apparently has fathered a child. Of the patients 4.6% were reported to have gonadal tumours. Position and type of the genital ducts, frequency of clinical findings such as genital abnormalities and gynaecomastia, correlations between assigned sex and karyotype as well as the age at diagnosis are reported.

207 citations


Journal ArticleDOI
TL;DR: A lack of appropriate control groups and use of arbitrary criteria for judging serious delay leads to large underestimations of cognitive impairment in VPI.
Abstract: The effects of relying on outmoded IQ-test norms and the use of arbitrary classifications of developmental delay on estimates of cognitive impairment of very preterm infants (VPI) was evaluated in a prospective population study. Cognitive assessments included the Griffiths test at 5 and 20 months and the Columbia Mental Maturity Scales (CMM) and a vocabulary test (Aktiver Wortschatz Test, AWST) at 56 months of age. Rates of cognitive impairment of 321 very preterm infants (VPI; < 32 weeks gestation or < 1500 g birth weight) were determined according to the published test norms, to scores of a full-term control group (FC n = 321), and to scores from a representative sample of children (NC n = 431) of the same birth cohort. IQ-scores were higher in the FC and NC children than in the original standardisation sample (SS). Using the concurrent test norms (FC, NC) up to 2.4 times more VPI were identified as seriously impaired (<-2 SD) than if the published (outdated) norms were used. Serious developmental delay was underestimated when arbitrary (e.g. DQ < 70) rather than across age comparable definitions (DQ <-2 SD) were used. VPI study drop-outs had mothers with lower educational qualifications and poorer cognitive developmental scores at 5 or 20 months of age. In conclusion, a lack of appropriate control groups and use of arbitrary criteria for judging serious delay leads to large underestimations of cognitive impairment in VPI. Findings from previous uncontrolled studies of VPI need re-interpretation.

154 citations


Journal ArticleDOI
TL;DR: Patients at any age who develop regression of learned skills, onset of dementia, loss of motor control and organ enlargement should be considered for lysosomal screening.
Abstract: Patients at any age who develop regression of learned skills, onset of dementia, loss of motor control and organ enlargement should be considered for lysosomal screening. Morphological and biochemical screening methods may reinforce the clinical suspicion, but they are not diagnostic. A widespread use of enzyme assays that appear to be related to the clinical problems is recommented.

126 citations


Journal ArticleDOI
G. Drasch, I. Schupp, H. Höfl, R. Reinke, G. Roider 
TL;DR: The toxicological relevance of the unexpected high Hg-K of older infants from mothers with higher numbers of dental amalgam fillings is discussed.
Abstract: The total mercury concentrations in the liver (Hg-L), the kidney cortex (Hg-K) and the cerebral cortex (Hg-C) of 108 children aged 1 day-5 years, and the Hg-K and Hg-L of 46 fetuses were determined. As far as possible, the mothers were interviewed and their dental status was recorded. The results were compared to mercury concentrations in the tissues of adults from the same geographical area. The Hg-K (n = 38) and Hg-L (n = 40) of fetuses and Hg-K (n = 35) and Hg-C (n = 35) of older infants (11–50 weeks of life) correlated significantly with the number of dental amalgam fillings of the mother. The toxicological relevance of the unexpected high Hg-K of older infants from mothers with higher numbers of dental amalgam fillings is discussed.

121 citations


Journal ArticleDOI
TL;DR: Comprehensive data on 30 patients with propionic acidaemia, diagnosed by selective screening for inborn errors of metabolism, are presented, and the most valuable diagnostic metabolites found were methylcitric-, 3-hydroxypropionic-, and 2-methyl-3-oxovaleric acids.
Abstract: Comprehensive data on 30 patients with propionic acidaemia, diagnosed by selective screening for inborn errors of metabolism, are presented. The most valuable diagnostic metabolites found were methylcitric-, 3-hydroxypropionic-, and 2-methyl-3-oxovaleric acids. Hyperlysinaemia and hyperlysinuria are also characteristic findings in this disease. The metabolic pattern found in propionic acidaemia is discussed extensively as are enzymatic findings. Residual activity of propionyl-CoA carboxylase is neither a predictive marker for severity nor for outcome of the disease. Propionate fixation assays were less reliable for confirmation of propionic acidaemia and of no prognostic value. Clinical presentation of the disease is discussed in detail. Besides the well-known unspecific findings (poor appetite, feeding difficulties, vomiting, dehydration, weight loss, muscular hypotonia, dyspnoea, somnolence, apathy, convulsion, coma, severe metabolic acidosis, hyperammonaemia) various skin abnormalities have been detected in about 50% of all patients. In 27% "dermatitis acidemica" was found.

113 citations


Journal ArticleDOI
TL;DR: The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al.
Abstract: The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. [19] and Kuroki et al. [15] in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal abnormalities. In Japan, the syndrome appears to have an incidence of about 1∶32 000 newborns. Outside of Japan, a growing number of patients have been recognized. Clinical data are presented on 29 Caucasian patients; the patients were diagnosed over a relatively short period of time, indicating that the incidence outside of Japan is probably not lower than in Japan. A literature review of 89 patients (60 Japanese and 29 non-Japanese) is given. In 66% of the non-Japanese patients serious neurological problems were present, most notably hypotonia and feeding problems (which were not only related to the cleft palate); this was not reported in the Japanese patients. Inheritance is not clear. Most patients are isolated, sex-ratio is equal. The syndrome can be recognized in patients with cleft (lip/)palate, with mild to moderate developmental delay and in young children with hypotonia and/or feeding problems. In counselling parents, the designation “Kabuki” syndrome seems to be more appropriate than “Kabuki make-up” syndrome.

109 citations


Journal ArticleDOI
TL;DR: Six cases of protein S deficiency secondary to varicella were reported, five cases were complicated by thrombotic and vascular events, namely purpura fulminans and necrotic vasculitis, deep veinThrombosis and stroke.
Abstract: We report six cases of protein S deficiency secondary to varicella. Five cases were complicated by thrombotic and vascular events, namely purpura fulminans and necrotic vasculitis, deep vein thrombosis and stroke. Two cases were associated with protein C deficiency and one case revealed a heterozygous factor XII deficiency. The underlying mechanism of this acquired protein S deficiency is unclear but could be related to a direct effect of zoster virus.

102 citations


Journal ArticleDOI
TL;DR: In patients with H US, both leucocyte count and lactate dehydrogenase activity continued to increase in the early phase of the disease, and on day 3 of illness attained markedly higher levels than in patients without HUS, which seemed to be important as predictors of the development of HUS.
Abstract: In 1990, an outbreak ofEscherichia coli 0157: H7 infection occurred in 174 children in a nursery school in Saitama, Japan. The organism was isolated from tap water supplied from the well in the school. Clinical manifestations varied from asymptomatic infection to non-bloody diarrhoea, haemorrhagic colitis, haemolytic uraemic syndrome (HUS) and death. Among culture-confirmed 42 cases ofE. coli 0157: H7, 7 children were asymptomatic, 21 children had only diarrhoea, and 14 children developed HUS. Bloody diarrhoea with abdominal pain following initial frequent diarrhoea appeared to be associated with subsequent HUS. In patients with HUS, both leucocyte count and lactate dehydrogenase activity continued to increase in the early phase of the disease, and on day 3 of illness attained markedly higher levels than in patients without HUS. These two parameters seemed to be important as predictors of the development of HUS.

95 citations


Journal ArticleDOI
TL;DR: A high degree of impaired glucose tolerance and hyperinsulinism in adult Turner women, which—together with increased body fat—potentially increase the cardiovascular risk for these patients.
Abstract: The information available on the medical and psychosocial status of patients with Turner syndrome beyond the paediatric age group is scarce. We therefore studied 25 unselected women with cytogenetically proven Turner syndrome (age 20–50 years), who never received any growth-promoting therapy, and ten control women (25–48 years). In addition to anthropometric measurements, an oral glucose tolerance test was performed, auto-antibodies to endocrine tissues were studied, bone mineral density of the forearm was measured by single photon densitometry, and information about the psychosocial distress of the patients was obtained. Adult height averaged 148.7±1.1 cm (mean±SE), which was 16 cm below the mean of adult women from a similar background. In Turner patients, final height correlated significantly with mid-parental height (final height=0.67×MPH+32.1;r=0.69). Body mass index was increased in Turner patients (25.6±1.3 kg/m2) compared to controls (21.4±0.6;P<0.006). Six patients (25%) had impaired glucose tolerance or overt diabetes mellitus (one patient). Insulin release was augmented but delayed in the Turner group, and the area under the insulin stimulation curve was correlated to body mass index (r=+0.54,P<0.01). Thyroid antibodies were detected in nine patients (37.5%). On average, bone density of the forearm was only marginally reduced compared to the agedependent normal range. All women were employed, while only one of the Turner women was married. As a group, the subjects expressed greater distress due to infertility compared to short stature. These data demonstrate a high degree of impaired glucose tolerance and hyperinsulinism in adult Turner women, which—together with increased body fat—potentially increase the cardiovascular risk for these patients. In contrast, early osteoporosis as well as subjective dissatisfaction with attained height seem to be of secondary importance.

95 citations


Journal ArticleDOI
TL;DR: Conservative treatment of regurgitations in infants, consisting mainly of parental reassurance and postural therapy, is sufficient to obtain clinical remission in most patients and milk thickening products tend to improve clinical remission and contribute to the normalisation of some pH metric parameters.
Abstract: To determine whether a new "anti-regurgitation formula" containing a bean gum preparation decreases the number of regurgitations and gastro-oesophageal reflux (GOR), we studied 20 infants from 1 week to 4 months of age, referred for evaluation of regurgitation, in a double-blind prospective study. The number of regurgitations decreased significantly in both the treatment group (the formula with thickening product, positional treatment, parental reassurance) and the placebo group (the same formula without thickening product, positional treatment, parental reassurance) (P 0.002 and 0.032, respectively). The results of a 24-h oesophageal pH monitoring, performed before and during treatment, showed a significant decrease in the percentage of time oesophageal pH was < 4.0 in the treatment group. It is concluded that conservative treatment of regurgitation in infants, consisting mainly of parental reassurance and postural therapy, is sufficient to obtain clinical remission in most patients. In addition, milk thickening products tend to improve clinical remission and contribute to the normalisation of some pH metric parameters.

Journal ArticleDOI
TL;DR: Screening for neurometabolic disorders should be as comprehensive as possible and include determinations of amino acids, purines and pyrimidines and markers of peroxisomal function in addition to organic acid analysis.
Abstract: Neurological manifestations are very common and can be the leading and/or presenting feature in organic acid disorders, sometimes in the absence of metabolic derangement. Review of the time course and presentation of neurological disease in organic acid disorders reveals characteristic clinical findings of ataxia, myoclonus, extrapyramidal symptoms, metabolic stroke and megalencephaly. A group of organic acid disorders presents exclusively with neurological symptoms. These include glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I), succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria), mevalonic aciduria, N-acetylaspartic aciduria (Canavan disease) and L-2-hydroxyglutaric aciduria. As a group these "cerebral" organic acid disorders appear to remain often undiagnosed and their true incidence is much less well-known than that of the "classical" organic acid disorders. Unfortunately, stringent guidelines for a clinical preselection of neuropaediatric patients to be investigated for organic acid disorders cannot be provided. Today, screening for neurometabolic disorders should be as comprehensive as possible and include determinations of amino acids, purines and pyrimidines and markers of peroxisomal function in addition to organic acid analysis.

Journal ArticleDOI
TL;DR: After 14 weeks of gestation all inflow velocities and their respective TVI's increased linearly in the growing fetal heart, suggesting that diastolic function did not change.
Abstract: To generate normal charts of fetal cardiac inflow velocities and to assess physiologic changes of ventricular diastolic function, velocity waveforms of tricuspid and mitral valves were studied longitudinally in 49 fetuses in 4 week intervals from 14 weeks gestation to term. Doppler tracings were analyzed for: peak early (E) and peak late (A) inflow velocities, time velocity integral (TVI) of total inflow and A-wave velocity waveforms and heart rate corrected isovolemic relaxation time. E-and A-velocity as well as total-and A-wave-TVI of both valves increased significantly with gestational age (P<0.001). Heart rate and A/E ratio decreased significantly with gestational age (P<0.001). The ratio of A-wave TVI to total TVI of both valves and heart rate corrected isovolemic relaxation time (IVR) was constant suggesting unchanged diastolic function. This study provides normal charts for fetal cardiac inflow velocities. After 14 weeks of gestation all inflow velocities and their respective TVI's increased linearly in the growing fetal heart. There was evidence that diastolic function did not change. Area ratios and IVR should be used to determine changes in ventricular diastolic function, rather than velocity ratios.

Journal ArticleDOI
TL;DR: It is concluded that mutations in the androgen receptor gene may be carried by subset of patients with genital ambiguity presenting primarily with hypospadias, but this is not the underlying cause in the majority of cases.
Abstract: Development of male external genitalia is dependent on androgens, and karyotypic males lacking appropriate levels of androgens or functionally normal receptors may show abnormal virilization. Mutations in the androgen receptor gene cause abnormal receptor function and diverser mutations may be associated with heterogenous clinical signs of androgen insensitivity. In this study, we have searched for the existence of androgen receptor gene mutations carried by some patients with hypospadias. Genomic DNA samples from peripheral blood leucocytes from 21 patients with different degrees of hypospadias were studied. Analysis of the androgen receptor gene was performed by exon-specific amplification using polymerase chain reaction, single strand conformation polymorphism analysis, and direct genomic sequencing. Although a silent polymorphism was identified in exon 1 of the androgen receptor gene, the majority of patients studied (20/21) did not carry androgen receptor gene mutations. One patient with severe hypospadias and bilateral cryptorchidism was found to carry a point mutation in exon 8. We conclude that mutations in the androgen receptor gene may be carried by subset of patients with genital ambiguity presenting primarily with hypospadias, but this is not the underlying cause in the majority of cases. Characterization of this genetic defect may be important for classification and subsequent conservative therapeutic approaches for these patients.

Journal ArticleDOI
TL;DR: The results suggest the existence of a defect of primary bile acid secretion in Byler disease characterized by the presence of high concentration of bile acids in serum and absence or very low concentration in bile.
Abstract: To clarify the relationship of progressive familial intrahepatic cholestasis (Byler disease) to bile acid metabolism, we analysed, by high performance liquid chromatography, the bile acid composition of serum and bile in seven children with Byler disease and in eight control children with other cholestatic diseases. In serum, total bile acid concentration was increased in patients with Byler disease (0.30 +/- 0.05 mmol/l) and in control patients (0.21 +/- 0.08 mmol/l). Cholate (C) and chenodeoxycholate (CDC) comprised the major proportion of total bile acids in patients with Byler disease as in control patients. Hyocholate (HC) was only detected in patients with Byler disease and lithocholate was only present in control children. In bile, total bile acid concentration was very low in patients with Byler disease (1.1 +/- 1.4 mmol/l) compared to control patients (88.9 +/- 83.2 mmol/l). C and CDC were the major bile acids in control patients, whereas C and HC comprised the major proportion of bile acids in patients with Byler disease. These results suggest the existence of a defect of primary bile acid secretion in Byler disease characterized by the presence of high concentration of bile acids in serum and absence or very low concentration of bile acids in bile.

Journal ArticleDOI
TL;DR: The results on plasma lipid FA distribution in children aged 1–15 years may be used as reference values for metabolic and nutritional investigations.
Abstract: The fatty acid (FA) composition of plasma phospholipids, triglycerides and cholesterol esters (STE) was determined by high resolution capillary gas-chromatography in 115 apparently healthy subjects from birth to young adulthood. After birth, percentage contributions of linoleic and alpha-linolenic acid increased, whereas long-chain polyunsaturated fatty acids decreased in all FA fractions. No difference in plasma FA composition was seen between groups of children aged 1-<5, 5-<10 and 10-<15 years, except for a decrease of total saturated FA in STE between 1-<5 years (18.5%, wt/wt) and 10-<15 years (14.5%,P<0.005). No difference was observed for the values of boys and girls. The results on plasma lipid FA distribution in children aged 1–15 years may be used as reference values for metabolic and nutritional investigations.

Journal ArticleDOI
TL;DR: The management of tracheostomized small children and infants in a highly staffed and monitored intensive care unit has allowed better handling of complications and has resulted in a reduction in cannula-related deaths.
Abstract: We reviewed the records of 108 patients who had a tracheostomy performed over a 10-year period from July 1979 to April 1989. Median age at tracheostomy was 6 months (1 week-15 years). Indications for surgery were acquired subglottic stenosis (31.4%), bilateral vocal cord paralysis (22.2%), congenital airway malformations (22.2%) and tumours (11.1%). No epiglottis and no emergency situation had to be managed by tracheostomy. Operation was uneventful in all, but 8 patients (7.4%) developed a pneumothorax in the postoperative period. Twenty-one (19.5%) had severe complications during the cannulation period (tube obstruction in 11 patients with cardiorespiratory arrest in 4; dislocation of the tube in 6 patients). Fifteen patients (13.8%) had severe complications after decannulation (2 had a cardiorespiratory arrest); all 15 had to be recannulated. At the end of the study period 85 patients (78.7%) were successfully decannulated with a median period of tracheostomy of 486 days (8 days-6.6 years). The median hospital stay was 159 days (13 days-2.7 years). All patients could be discharged. Eight patients (7.4%) died but no death was related to tracheostomy. In summary the mortality rate is lower than reported in previous reviews and tracheostomy is a safe operation even in small children but cannula-related complications may lead to life-threatening events. The management of tracheostomized small children and infants in a highly staffed and monitored intensive care unit has allowed better handling of complications and has resulted in a reduction in cannula-related deaths.

Journal ArticleDOI
TL;DR: A better understanding of Carnitine reveals the important diagnostic implications of this compound and its role in mitochondrial homeostasis.
Abstract: Carnitine (~-OH-trimethylaminobutyric acid) is a quaternary amine with a key role in facilitating the transport of fatty acids across the inner mitochondrial membrane prior to [3-oxidation. A second and possibly equally important role in the control of key metabolic processes, and hence of mitochondrial homeostasis has been identified more recently [14]. This better understanding reveals the important diagnostic implications of this compound.

Journal ArticleDOI
TL;DR: Injections by jet were no less painful than those by needle but produced several local side-effects.
Abstract: The aim of this study was to investigate whether insulin application by jet injector is less painful than by needle. Pain was scored by 41 diabetic and seven healthy volunteers after injections with both methods. Injections by jet were no less painful than those by needle but produced several local side-effects.

Journal ArticleDOI
TL;DR: These findings suggest that R. henselea plays a pathogenic role in cat-scratch disease.
Abstract: An immunocompetent 9-year-old boy with disseminated catscratch disease involving spleen, cervical and abdominal lymph nodes, skull, and one clavicle is reported. Antibodies toRochalimaea quintana andR. henselae were detected, at increasing, then decreasing concentration. DNA extracted from the biopsied skull lesion was amplified by polymerase chain reaction and hybridized with species-specific oligonucleotides proving the presence ofR. henselae in affected tissue. Our findings suggest thatR. henselea plays a pathogenic role in cat-scratch disease.

Journal ArticleDOI
TL;DR: The test was well tolerated and was useful in establishing the diagnosis of constipation in children with soiling or spurious diarrhoea and in assessment of its severity and its response to treatment.
Abstract: Assessment of constipation in childhood is difficult, particularly when the presenting symptom is spurious diarrhoea or faecal incontinence. We have therefore assessed the clinical usefulness, reliability and acceptibility of a solid marker transit technique in 52 patients with constipation (median age 8.0 years; range 2–13.5 years) at two referral centres. Median duration of symptoms was 60 months. Soiling was a prominent feature in 43 children (83%). Ten, 3 mm pieces of 6FG radio-opaque Silastic tubing were given orally at 9am on days 1, 2 and 3 and a plain abdominal film taken on day 5. Laxative treatment was not interrupted. Each film was divided into right colon, left colon and rectosigmoid areas, using bony landmarks, and the marker content of each area counted. The coefficient of variation of intra and inter-observer errors was 3.1% and 2.1% respectively. By day 5, 7% (group median) of markers were still in the right colon, 17% in the left colon and 42% in the rectosigmoid. Twenty-one patients(40%) had normal transit, 4 (8%) mild delay, 9 (17%) moderate and 18 (35%) severe transit delay. Marker distribution indicated slow pancolonic transit in 29% and slow segmental transit in 10%. In 21%, clustering of markers in the rectosigmoid suggested outlet obstruction. A significant correlation was found between both transit delay and marker distribution and the severity of clinical symptoms of constipation and soiling. Repeat studies in six children following colonic evacuation revealed significant improvement (P< 0.05) in marker transit. The test was well tolerated and was useful in establishing the diagnosis of constipation in children with soiling or spurious diarrhoea and in assessment of its severity and its response to treatment.

Journal ArticleDOI
TL;DR: IVIg crosses the blood-CSF barrier, and might be effective in the treatment of West syndrome and Lennox-Gastaut syndrome, and should be considered when other treatments, such as ACTH, have failed.
Abstract: In an add-on pilot study, a group of 15 children with cryptogenic and intractable West syndrome (3) and Lennox-Gastaut syndrome (12) received intravenous immunoglobulin (IVIg, 0.4g/kg body weight per day for 5 consecutive days, followed by the same dose once every 2 weeks for 3 months). Five patients had been treated previously with ACTH without success. The reduction in clinical seizures averaged 70%. Electroencephalographic (EEG) recordings revealed a mean reduction in epileptic discharges of 40%. In all 15 patients, acceleration of EEG background activity occurred, and psychomotor development improved. Prior to IVIg administration, CSF examinations were normal. After IVIg administration, the serum total IgG concentration increased by an average of 76%, and the CSF IgG concentration by 44%. According to our data, IVIg crosses the blood-CSF barrier, and might be effective in the treatment of West syndrome and Lennox-Gastaut syndrome. We suggest it should be considered when other treatments, such as ACTH, have failed.

Journal ArticleDOI
TL;DR: Octreotide has been shown to be effective in the treatment of familial tall stature by reducing height velocity and final height and may be possible to avoid the need for partial or subtotal pancreatectomy by the long-term use of octreotide.
Abstract: Preliminary data of the use of the long-acting somatostatin analog octreotide (Sandostatin) in pediatrics are reported. In nesidioblastosis and other hyperinsulinemic conditions, timely treatment with octreotide can protect cerebral function and may reduce mortality. The acute use of octreotide produces prompt elevation of blood glucose, even in patients who fail to respond to diazoxide. In addition, it may be possible to avoid the need for partial or subtotal pancreatectomy by the long-term use of octreotide. As in adults, octreotide should find a place in the symptomatic treatment of secretory diarrhea, notably the watery diarrhea hypokalemia-achlorhydria complex and pancreatic cholera syndrome. Octreotide has been shown to be effective in the treatment of familial tall stature by reducing height velocity and final height. Responses to octreotide therapy vary and the individual responsiveness must be extensively studied.

Journal ArticleDOI
TL;DR: In this patient, a defect of cytochromec oxidase (COX) was demonstrated in her circulating lymphocytes, and the enzyme was found to be deficient in post-mortem liver and in cultured skin fibroblasts.
Abstract: We report a 3 year-old girl with a myoclonic epilepsy. A fatal hepatic failure occurred after 3 months of valproate (VPA) therapy. In this patient, a defect of cytochromec oxidase (COX) was demonstrated in her circulating lymphocytes. The enzyme was also found to be deficient in post-mortem liver and in cultured skin fibroblasts. However, a fully functional respiratory chain was found in muscle. VPA administration apparently triggered the hepatic failure, given this patient's background of partial COX deficiency.

Journal ArticleDOI
TL;DR: There was a loss in percentiles of both height and weight after the age of 8 years and the pubertal growth spurt was delayed and reduced and the 25th percentile was reached again in the adolescent period.
Abstract: The longitudinal growth in 139 patients with cystic fibrosis (CF) was investigated from birth until the age of 19 years. Already at birth weight and length were reduced (weight: −0.83±0.13 SDS in girls, −0.44±0.13 SDS in boys; length: −0.55±0.13 SDS in girls, −0.39 ±0.14 SDS in boys; mean ± SEM). Both variables showed a further decline until diagnosis was established (weight: −1.57±0.21 SDS in girls, −1.46±0.25 SDS in boys; length: −1.15±0.32 SDS in girls, −1.03 ±0.52 SDS in boys; mean ± SEM). Six to 12 months after diagnosis length improved and reached the 25th percentile in both sexes. Height and weight followed the 25th percentile throughout childhood. Growth velocity was fairly normal during this period. There was a loss in percentiles of both height and weight after the age of 8 years and the pubertal growth spurt was delayed and reduced. However, the 25th percentile was reached again in the adolescent period. At the age of 19 years median height was 161,5 cm in girls and 173 cm in boys, both representing the 25th percentile. Using a sensitive statistical method for analysis of growth data we present CF specific growth curves for height, weight and growth velocity. There was no significant effect of pulmonary colonization withPseudomonas aeroginosa on growth velocity.

Journal ArticleDOI
TL;DR: An appraisal of the overall incidence of all organic acidurias (1∶6700) has been made as well as of the frequencies of the most common types of these disorders.
Abstract: Since 1973 the University Children's Hospital of Freiburg has provided a service devoted to selective screening for inborn errors of metabolism with particular emphasis on organic acidurias. Patients to be investigated are preselected by local clinical paediatricians. Between 1973 and the end of 1990, 46700 specimens from approximately 40000 patients were screened by the methods listed in Table 1. A total of 464 cases were found consisting of 51 different diseases, 242 cases of 23 different organic acidurias and 222 cases of 28 other inborn errors of metabolism. The number of cases diagnosed parallels the number of patients investigated showing that there is still a real demand for metabolic screening. The number of children to be investigated is stedily increasing. Using the presented and already published data an appraisal of the overall incidence of all organic acidurias (1∶6700) has been made as well as of the frequencies of the most common types of these disorders.

Journal ArticleDOI
TL;DR: No single variable studied during the acute phase was predictive of the presence of sequelae after 10 years, even when all complications i.e. anuria, hypertension and central nervous system involvement, were taken together.
Abstract: From January 1970 to December 1982, 95 infants and children with the haemolytic uraemic syndrome were admitted to our unit. Six patients died (6.3%) in the acute phase, 4 went into end-stage renal failure (4.2%) within months after the acute episode. The remaining 85 patients (89.5%) survived and recovered. They were followed as outpatients at yearly intervals for 5 years. Arterial hypertension was a major problem in 7. Eighty patients were studied 10 years later: 52 of them (65%) had no sequelae, 21 (26%) had mild defects and 7 (9%) severe sequelae. Clinical and laboratory data at the onset were analysed for prognostic significance. The immediate outcome was significantly worse in patients with either arterial hypertension or central nervous system manifestations on admission. Yet, no single variable studied during the acute phase was predictive of the presence of sequelae after 10 years. Even when all complications i.e. anuria, hypertension and central nervous system involvement, were taken together, there was no difference between patients with and patients without sequelae.

Journal ArticleDOI
TL;DR: A brief overview is given of the present status of selective screening in Europe, the USA and Israel including the distribution of centres and resources for diagnosis, therapy and follow-up.
Abstract: Selective screening for hereditary metabolic disorders has developed from a highly specialized activity, provided mostly by research oriented scientists, to an important diagnostic tool in the work-up of paediatric patients. A brief overview is given of the present status of selective screening in Europe, the USA and Israel including the distribution of centres and resources for diagnosis, therapy and follow-up. Current status and most pressing problems vary widely between different countries. Most countries still lack an organized network of clinical genetic centres which are capable of competent and comprehensive diagnostic and therapeutic services. For example, it must be assumed that more than 60% of patients with inherited metabolic diseases, which could be diagnosed nowadays, remain un(mis)diagnosed in former Western Germany. Early diagnosis and treatment are important determinants for a successful approach towards inherited metabolic diseases. Therefore, screening and therapy for inborn errors of metabolism has to be organized in clinical genetic centres, each serving a population between 2 and 4 million. The quality of the services provided depends on good pre- and postgraduate training of physicians (paediatricians) in the field of metabolic diseases, good co-operation between the referring physician and the clinical genetic centre and a broad spectrum of highly specialized metabolic investigations in the respective centre. The institutionalization has to include licensing of laboratories, directors and personnel, as well as quality control and proficiency testing. The size of the centres cannot be judged on the basis of the work involved with selective screening for inborn errors of metabolism alone.(ABSTRACT TRUNCATED AT 250 WORDS)

Journal ArticleDOI
TL;DR: The most commonly used antipyretic drugs are acetylsalicylic acid, paracetamol (acetaminophen) and dipyrone (metamizol), which have been extensively evaluated but there are few clinical trials on Dipyrone.
Abstract: Although the need for routine antipyretic therapy in children has often been questioned, there are no data to contra-indicate this. Not all fevers need to be treated but many physicians do so to relieve parental concern. The most commonly used antipyretic drugs are acetylsalicylic acid (ASA), paracetamol (acetaminophen) and dipyrone (metamizol). Paracetamol and ASA have been extensively evaluated but there are few clinical trials on dipyrone. In the last decade a strong statistical association has been observed between salicylates and Reye syndrome. Paracetamol is the most common cause of acute hepatic failure. Dipyrone has been associated with agranulocytosis. In the light of these findings the extensive use of antipyretics drugs has been seriously questioned.

Journal ArticleDOI
TL;DR: The biochemical disturbances in children 11–16 years of age with alcohol intoxication resemble those of adults and mild acidosis of a respiratory and metabolic origin and mild hypokalaemia are common findings in young teenagers.
Abstract: Severe toxicity from ethanol, manifested as coma, occurs at lower blood alcohol concentrations in young teenagers than in adults. Coma, vomiting and hypothermia are the commonest symptoms in young teenagers intoxicated by alcohol. The biochemical disturbances in children 11-16 years of age with alcohol intoxication resemble those of adults. Mild acidosis of a respiratory and metabolic origin and mild hypokalaemia are common findings in young teenagers. Young teenagers eliminate ethanol at the same rate as adults, whereas preschool age children are reported to eliminate ethanol twice as fast. The effect of ethanol on the state of consciousness is directly proportional to the blood alcohol concentration. Among small children the risk of hypoglycaemia is increased. Data on family history, social status, drinking habits, and children's motives for getting drunk are also of clinical importance. Fluid replacement with glucose-containing fluids and follow up are generally the only treatments needed for complete recovery. When children and adolescents are healthy, well-nourished and have not fasted, no severe complications are expected.