The study was performed on a group of 91 children with their first febrile convulsion whose parents were then instructed in the use of rectal diazepam in the event of a further seizure. later, the families were periodically recalled for interviews. The aim was to study the acceptance and cooperation of the families, the psychological attitude and the relation between the findings and parents' educational level. At the end of the follow-up, 80% of the 91 families showed good cooperation and psychological benefits. There was no relationship between the findings at the end of the follow-up and families' educational level. Even in the presence of a favorable psychological attitude, recurrences of febrile convulsions were still a frightening experience for many parents.
42 out of 45 adults aged 18-26 years (93%) diagnosed in childhood as having coeliac disease (CD) returned a questionnaire reviewing how they coped with the diet. 27 (64%) still continued to take a strict gluten elimination diet, five had failed completely and ten partly keep it up. Those adhering to the diet more often demonstrated a good knowledge of both CD and the diet. Neither age at the time of diagnosis nor social class, education of the patients or present social status was observed to have any positive correlation with compliance with the diet. The results indicate a need for more practical education of patients in terms of short refreshment courses.
Seventeen of 75 diabetic children without nephropathy had urinary calcium excretion of more than 4 mg/kg/day. Neither diurnal variation in calciuria, nor correlations between calcium excretion and glucose excretion as well as HbA1 levels were observed. The findings suggest that about one quarter of diabetic children is at risk for hypercalciuria and may be for renal damage due to hyperexcretion of calcium.
A six-year-old girl presented with fever, trismus and a very tender, enlarged submandibular mass. CT-scanning showed a right parapharyngeal mass and enlarged cervical nodes in the posterior triangle. Surgical exploration of the area failed to reveal an abscess. Subsequently the clinical criteria for the diagnosis of Kawasaki syndrome were met. This unusual presentation is compared with previously reported cases in the literature.
197 patients with growth hormone deficiency (144 boys, 53 girls, age 1.5-19.5 [mean 11 +/- 3.6], bone age 0.3-15 [mean 8.9 +/- 3.5] years) were treated for one year with authentic recombinant human growth hormone (r-hGH, Norditropin] in several European paediatric centers. 107 patients were newly treated (group A), and 90 transferred from pituitary or methionine hGH (groups B and C). In 19 of the latter, treatment was interrupted for 6 months (group B), in the others, it was changed without interruption (group C). The dosage was 0.45 +/- 0.2 IU/kg/week given s.c. 6-7 times a week. Height velocity increased from 4.1 +/- 2.4 to 8.3 +/- 2.5 (group A), 2.6 +/- 1.8 to 8.3 +/- 2.3 (group B), and 6.2 +/- 2.7 to 6.8 +/- 2.2 cm/year (group C). Few patients complained of local discomfort at the injection site, but this disappeared after changing metacresol in the solvent to 0.9% benzyl alcohol. Only 3 patients developed antibodies to hGH in low titers, which did not interfere with growth. No changes in E. coli protein antibodies were observed. It is concluded that r-hGH is an efficient and safe treatment for children with growth hormone deficiency.
Osteoporosis, a recognized complication of insulin-dependent diabetes mellitus (IDDM), may be related to this complex metabolic disorder; moreover, some data emphasize an altered vitamin D metabolism or parathyroid hormone secretion. Mineral homeostasis was studied in 29 children with IDDM (18 males, 11 females; 2.6-18.0 years). In 17 patients a stimulatory test (low-calcium diet) was performed for PTH and 1.25(OH)2D. Bone mineral content (BMC) and BMC/BW were lower in respect to our normal values; bone mineral loss was directly related to HbA1c levels and insulin requirements. A significant decrease of ionized calcium (p less than 0.001) and magnesium (p less than 0.001) was found; intact PTH values were in the low normal range but decreased for the ionized calcium values. 1.25(OH)2D levels were not significantly different from normal levels. 1.25(OH)2D and intact PTH did not rise during stimulatory test. The lack of 1.25(OH)2D and intact PTH increase after the stimulatory test may be due to the parathyroid gland's hyporesponsiveness related to hypomagnesemia which impaired PTH release and/or PTH action. Our data confirm an involvement of 1.25(OH)2D and PTH regulation in diabetic osteoporosis.
The purpose of this study was to assess the incidence of symptomatic urinary tract infection (U.T.I.) and malformations, such as vesico-ureteral reflux (V.U.R.), in the Trieste area. Data were collected in the framework of a survey based on the application of a protocol on urinary infections between 1979 and 1983. The U.T.I. incidence was found to be 1.38% of the 0-14-year-old residents, with a higher frequency in females (2.36%) than in males (0.46%). As regards V.U.R., the incidence in the population studied turned out to be 0.25%, with a females/males ratio of 4:1. Striking differences in incidence data were observed according to the age of U.T.I. and V.U.R. diagnosis and to the infection level (cystitis or pyelonephritis). The incidence of renal scarring resulted to be extremely low, which can be ascribed to the early diagnosis in our cases.
A chronic diarrhea accompanied by vomiting and weight loss was the major symptom in a one-year-old infant during a fulminant course of histiocytosis X. The diagnosis was suggested by the radiologic evidence of alternating dilated and stenotic segments in the small and large bowel as well by a massive intestinal protein loss and the presence of histiocytes in the mucosa and submucosa of the rectum. The histological picture of enlarged mesenteric lymph nodes, obtained during a diagnostic laparotomy, confirmed the diagnosis.
Computer-assisted tomography (CT) with 2 mm axial sections and reconstructions was carried out in 31 children affected by GH deficiency (GHD): 18 with idiopathic complete isolated GHD, 3 with idiopathic partial isolated GHD, 2 with idiopathic panhypopituitarism, 4 with isolated acquired GHD and 4 with acquired panhypopituitarism. Density in the intrasellar area on CT corresponded to that of cerebrospinal fluid in 13/20 cases with idiopathic hypopituitarism and in 2/8 cases with acquired hypopituitarism. The overall incidence of primary empty sella syndrome (PESS) in the GH deficient patients studied was thus over 48%, while in children without endocrine dysfunction, it was only 5/213 (2.4%). It is concluded that PESS is more frequent in childhood than assumed until now and that it is frequently associated with GHD.
We report a further family with dominantly inherited multiple naevi flammei.
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.
