Helvetica paediatrica acta最新文献

Congenital lipoid adrenal hyperplasia results in deficient virilization of genetic male infants, indicating that gonadal testosterone biosynthesis is impaired in such patients. In order to better define the characteristics of the gonadal lesion, we studied a Japanese genetic male infant with congenital lipoid adrenal hyperplasia who underwent bilateral orchiectomy at 14 months of age. The basal serum testosterone was low before and after orchiectomy (6.6 +/- 1.1 vs. 9.5 +/- 1.3 ng/dl), though it was higher at 9 days of age (30 ng/dl). A stimulation test with human chorionic gonadotropin at 12 months of age yielded no testosterone response (7----less than 5 ng/dl). At the time of the surgical intervention, the external genitalia were completely female but Wolffian duct derivatives (epididymides and vasa deferentia) were well developed. The microscopic examination of the testes revealed an increased number of Leydig cells which were filled with abundant lipoid material.- The above data demonstrate that the fetus produced a sufficient amount of testicular testosterone for a male Wolffian duct development. This indicates a quantitative difference in androgen requirements for the male sexual development of the external genitalia and the Wolffian ducts.

Two episodes of acute iron deficiency anemia with blood-stained sputum and symptoms of severe acute pulmonary exacerbation were observed in a child with cystic fibrosis (CF). Hemosiderin laden macrophages (siderophages) were repeatedly found in sputum and gastric juice, suggesting the coexistence of pulmonary hemosiderosis (PH). The possibility that pulmonary immune-mediated mechanisms characteristic of CF may have played a role in the development of PH is considered.

We report food-borne botulism in a 28-month-old boy and his father in order to illustrate this rare disease. Diagnosis and treatment are reviewed.

Elevated amounts of platelet-associated serum proteins (PASP) can be detected in idiopathic thrombocytopenic purpura (ITP) and are considered to be of patho-aetiological importance especially in the case of acute ITP, that commonly follows acute febrile illnesses. Using a micro-enzyme-linked immunoassay we examined PASP (IgG, IgM, and C3) in 120 paediatric patients with acute fever caused by viral (n = 45), bacterial (n = 48), or non-detectable agents (n = 27) and compared those values to the levels of PASP of an own paediatric control group (n = 21). Two of the patients presented mild temporary thrombocytopenia without clinical signs in the course of their infectious disease. While having normal platelet counts, the majority of our patients (69.2%) however, showed increased levels of PASP (IgG, IgM, C3; single or combined). Significant differences of PASP levels by discrimination of viral and bacterial diseases could not be demonstrated. Elevated platelet-associated complement was of special interest, because - in the absence of low platelet counts due to platelet-specific antibodies - it must be regarded as an indicator for immune complexes (IC) binding to thrombocyte surface IgG Fc-receptors. Thus we suggest that platelets play a considerable role in the elimination of circulating IC.

Carbamyl phosphate synthetase (CPS) catalyses the synthesis of carbamyl-phosphate from ammonia and bicarbonate and is the first step in ureagenesis. The infant described in this report suffered from deficiency of this enzyme. The symptoms started on the 2nd day of life with tachycardia, apathy, irritability and metabolic alcalosis, on the 4th day coma and fits occurred due to hyperammonia (ammonia in the blood max 496 mumol/l, normally up to 150 in newborns). In hepatic tissue no activity of carbamyl phosphate synthetase could be measured (normal range 0.66-2.1 mumol/h/mg protein). Peritoneal dialysis was instituted, but the metabolic crisis could only be overcome by the following therapeutic measures: restriction of protein intake to 1.5 g/kg/d in part as a special aminoacid mixture, in part as breast milk; sufficient caloric supply (600-500 kJ/kg/d); sodium benzoate 350 mg/kg/d: arginine 2 mmol/kg/d respectively citrulline 350 mg/kg/d, and carnitine 150 mg/kg/d. By these procedures the exogenous and endogenous load of ammonia could be minimized. Electroencephalogram and mental development were normal. Acute metabolic crises with hyperammonia during catabolic states (infections) could be treated several times. At the age of 8 months, however, the patient died during such a crisis. This case shows that it is possible to achieve a normal psychomotor development in complete CPS-deficiency by adequate therapy. Catabolic states are difficult to manage.

Two families with two and four members, respectively, affected with the autosomal dominantly inherited popliteal pterygium syndrome (PPS), are reported. In both, only the proposita revealed the full pattern of the PPS including lip pits, clefts, gingival synechiae, popliteal pterygia, syndactyly and genital hypoplasia. One patient in addition had bilateral meatal atresia, a finding hitherto unreported in patients with this syndrome. In both families, one parent and in one, additional members were mildly affected, and both families include members with lip pits as the only manifestation of the PPS. This syndrome has to be considered in patients manifesting only lip pits with or without clefts.

The blood pressures of 169 hospitalized children and adolescents were determined by a semi-automatic recording device (Sysditon). Several technical modifications of the paediatric cuffs were required before the device yielded satisfactory results. The systolic pressures then agreed very well with conventional sphygmomanometry, whereas the diastolic pressures were underestimated by 2.6 to 5.9 mm Hg and showed considerable scattering. In the second part of the study, 28 children and adolescents performed home recordings during one week. These measurements were compared with the hospital recordings obtained before and after the home recordings. The mean of all systolic self measurements was lower by 3.4 mm Hg than the initial hospital recordings, whilst the final hospital recordings were almost identical. In the majority of children, the lowest home recordings were noted in the morning and at noon, and the highest values in the afternoon and evening. Self measurement with a semi-automatic device is a simple and inexpensive method to evaluate elevated blood pressure and to control anti-hypertensive therapy of children and adolescents. However, technical modifications of the cuffs are necessary, and the devices need careful evaluation before being used in children.

The aetiological and pathogenic relation between junctional epidermolysis bullosa (Herlitz) and prepyloric and pyloric obstruction in newborns with junctional epidermolysis bullosa is still unknown. There are two different hypotheses; one suggesting two distinct genetically related disorders (namely junctional epidermolysis bullosa and congenital pyloric atresia), the other suggesting an intrauterine mucosal damage in junctional epidermolysis bullosa. We report two infants suffering from junctional epidermolysis bullosa, Herlitz-type, verified by electron microscopy, and from connatal prepyloric and pyloric obstruction. In both cases we could demonstrate proliferative inflammation at the prepyloric antrum and pylorus as the cause of the obstruction but no complete obliteration of the pyloric channel. These findings point to an intrauterine event impacting the mucosa of the gastrointestinal tract in patients with junctional epidermolysis bullosa of the Herlitz-type and don't comply with the hypothesis of two different but genetically related diseases.

We report a further family with dominantly inherited multiple naevi flammei.