[Enuresis associated with petit mal seizures].
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Biomedical subjects
Publications and source records attributed to M Navarro Torres.
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OBJECTIVE: We performed a retrospective review of a series of 82 cases of Williams-Beuren syndrome (WBS) and associated diseases. MATERIAL AND METHODS: A series of 82 patients (47 males and 35 females) who consulted at the hospital because of mental retardation and/or congenital cardiopathy were included. The patients were studied mainly from a neurological and cardiological point of view, and secondarily because of endocrinological and nephrological problems. Since description of the chromosomal abnormalities provoking the syndrome, we perform karyotyping in all patients with suspected WBS. RESULTS: Alterations mainly consisted of distinctive facial appearance (100 %), mental retardation with friendly behavior (90 %), congenital cardiopathy (85.4 %), mostly consisting of supravalvular aortic stenosis (72 %), with (12 %) or without (60 %) pulmonary stenosis, and behavior typical of attention deficit-hyperactivity disorder, which usually manifested at the age of 4 to 5 years in both boys and girls. Approximately 90 % started to walk and speak later than average. Birthweight was below 3000 g in 65 % of the patients in whom this datum was included in the medical record. Eleven of the 13 patients (84.5 %) studied showed the typical deletion of WBS. CONCLUSION: Study of patients with WBS should be multidisciplinary. Most patients require help during schooling and subsequent vocational guidance.
OBJECTIVE: To analyze the outcome of neonatal pelvic ectasia (PE) and the association between this entity and vesicoureteral reflux and/or other urinary tract abnormalities. PATIENTS AND METHODS: We performed a retrospective study of 255 children (205 boys, 50 girls) with an ultrasonographic diagnosis of PE in the first month of life. The initial ultrasonographic examination was indicated by urinary tract infection in 30 neonates, abnormalities in the prenatal ultrasonographic examination in 150 and by other reasons in 75. Pelvic ectasia was classified in four stages according to anteroposterior pelvic diameter: I < 1 cm, II 1-1.5 cm, III 1.6-2 cm, and IV > 2 cm. RESULTS: Pelvic ectasia was bilateral in 153 children (60 %) and unilateral in 102 (left side in 81.4 % and right side in 18.6 %). Stage I was found in 75.49 %, stage II in 20.34 %, stage III in 3.9 % and stage IV in 0.24 %. The mean follow-up was 32.6 +/- 25.2 months. At the end of the first year, the results of renal ultrasound were normal in 70.2 % of left-sided PE and in 55.9 % of right-sided PE, but 46 patients (18 %) showed worsening of PE between the first and second ultrasound scans. Voiding cystourethrography was performed in 79.6 % of the children and some abnormalities were found in 50 (24.6 %): urethral dilatations in two patients and vesicoureteral reflux in 48. No correlation was found between vesicoureteral reflux and the degree of ectasia (74 % had an anteroposterior diameter of < or = 1 cm). Urinary tract infection was present in 24.3 % of the children and 13 required surgery (eight pyeloplasties, four urethral reimplantations and two resections of type III urethral valves). CONCLUSIONS: Neonatal PE was more prevalent in boys (4:1) and was more frequently located on the left side in both sexes. Associated vesicourethral reflux was found in 23.64 % with no correlation between the degree of dilation and the presence or degree of reflux. Consequently, cystourethrography should be performed in any child with pelvic ectasia, regardless of stage, side or sex.
This prospective study examines 42 children in the first year after renal transplantation. They all received intravenous ganciclovir prophylaxis for cytomegalovirus in the immediate post-transplant period. Quantitative antigenemia (pp68) determinations and blood, urine and throat cultures were done on a scheduled basis to detect cytomegalovirus. Infection was detected in 22 children (52.4%) within an average 44.31 +/- 27.38 days; 5/22 were symptomatic. The antigenemia was positive (+) in all the infected patients, and so were blood culture in 68.2%, urine culture in 59.1% and throat culture in 31.8%. A positive antigenemia was the earliest finding in all cases but 1. The 5 children with clinical symptoms received intravenous ganciclovir. Asymptomatic infected children received oral ganciclovir at an average dose of 47.64 +/- 8.10 mg/kg/day (median 46.58 (range 33-58.7) mg/kg/day) for an average of 58.47 +/- 27.76 days (median 58 (range 26-211) days). No patient developed disease or ganciclovir resistance during the treatment. No patient presented acute graft rejection or renal dysfunction and their glomerular filtrate rate at 1 year was similar to that of noninfected children (90.38 +/- 26.51 vs. 93.93 +/- 36.24 ml/min/1.73 m2). We conclude that preemptive treatment with oral ganciclovir is useful and safe in children with renal transplantation and that monitoring blood antigenemia is a sensitive and early method to detect and control CMV infection.
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Eight children with chronic HBV hepatitis and glomerular disease were studied. There were seven males and one female, with ages between one and nine years old. Three had CPH and five CAH. All patients with CPH had membranous nephropathy, and those with CAH three had MNG. one membranoproliferative glomerulonephritis and one mesangial glomerulonephritis. Only six patients had moderate liver enlargement. In all, the diagnosis of HBV infection was performed by investigation of the etiology of their nephropathy. Liver function test showed signs of moderate necrobiosis with impaired biliary acid metabolism. All were HBsAg (+), antiHBc (+), six were antiHBe (+) and two were HBeAg (+). In one case renal deposit of HBsAg was found. Due to the frequent association of HBsAg and glomerulonephritis (GN) in children, an investigation of liver function is highly recommended in those patients with GN a HBV infection.
54 neonates found to have pelvic dilatation on sonography are reported. They were studied by IVP, voiding cystography and renal function tests. Periodic sonography, urine cultures and DPTA furosemide in severe cases were performed during the follow-up (3-32 months). The ectasias were classified in 4 grades, found a good correlation with urography in grades I, III and IV. Neonatal pelvic dilatation is associated with: 1) urinary tract infection (17.4%); 2) vesicoureteric reflux (25.5%); 3) ureteropelvic obstruction (17.4%). During the follow-up 52% of ectasia disappeared (x: 6 months) and 11% will required pieloplasty (x: 10 months). It is noteworthy the high rate of initial and further urinary tract infection (53% of patients).
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UNLABELLED: Protein restriction in patients with chronic renal failure may be potentially beneficial, however the dangers in growing children of such restrictions must be considered. We analyzed the nitrogen balance in 60 chronic renal failure children (47 male y 13 female) Group A: 36 preadolescents. GFR was 54.5 +/- 25.6 ml/min/1.73 m2. Group B: 24 adolescents. GFR 52.7 +/- 25.4 ml/min/1.73 m2. RESULTS: 55% of patients had a negative balance. 72% preadolescents and 17% of adolescents had positive nitrogen balance A good correlation was found between the range of energy and protein intake and nitrogen balance. CONCLUSIONS: 1. A good correlation was found between nitrogen balance and the range of energy and protein intake but no correlation with the renal function degree. 2. Adolescents had nitrogen balance negative. 3. It is necessary turn-over protein studies in this patients to know the requirements in children with chronic renal failure.