The authors present a case of Meyer disease. The knowledge of this pathology, emerging from the ultrasonic screening of the hip, is useful to the pediatrician in the differential diagnostic argument.

Diagnosis, Differential↗

PubMedDate not supplied

[Celiac disease and its diagnostic evolution. Comparisons and experiences in a hospital pediatric department (1975-1992). I].

The coeliac disease (CD) or gluten-sensitive enteropathy (GSE) is a permanent intolerance to wheat gliadin and to correlated proteins inducing malabsorption and typical damages of the jejunal mucosa (total or subtotal villous atrophy = SVA) in genetically-predisposed individuals ("DQW2"). A large amount of research has been devoted to CD pathogenesis: the most recent studies, thanks to sophisticated and experimental methods, support the pathogenetic immunological theory and the one of direct cytotoxicity. The correct diagnostic procedure for CD, established in 1970 by the European Society for Pediatric Gastroenterology and Nutrition (ESPGAN), suggested three small bowel mucosal biopsies. In the last years, because of the difficulties of such a practice, the necessity of non-invasive diagnostic approaches has developed; such approaches have been verified in absorption tests (one-hour blood xylose, intestinal permeability methods) and in immunogenetic tests (antibodies antigliadin, anti-reticulin, anti-endomysium, anti 90 KD glycoprotein, anti-human jejunum, HLA I/II antigens). The specific MHC antigens establish CD's incidence in several population and in particular situations, as in first-degree relatives and in diseases associated with CD (dermatitis herpetiformis (DH), insulin dependent diabetes mellitus (IDDM) and other auto-immune syndromes). The specific serum antibodies singly used as first level screening if estimated in combination with absorption tests, reach the highest levels of specificity and sensibility in CD diagnosis. It's anyway fundamental the comparison with at least a typical CD histological feature, caused by a challenge with a sufficient gluten to be carried in dubious cases and in non high auxological risk age (ESPGAN 1989). Adolescence is a period of frequent non compliance with a gluten-free diet and of particular psychological and physical problems: the apparent "gluten insensitivity", typical of teen-agers and adults, recalls the definitions of silent CD and latent CD (iceberg like). In the first case the jejunal mucosa is abnormal and the symptomatology isn't evident. In latent CD, genetically restricted, the mucosa is normal but there are minimal markers of inappropriate immunity to gliadin (at intestinal humoral immunity level) and a possible worsening of histological lesions to the third stage under environmental stimuli. This represents a two-stage model CD. That's why CD is still under-evaluated despite recent statistics reporting an increasing incidence (late and atypical forms). Prevalence rates between 1:300 and 1:4,000 and more are quoted in literature. The necessity of a strict gluten-free diet is confirmed by the evident frequency of lymphoma and by the increased risk of malignancy in untreated CD.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗

PubMedDate not supplied

[Acute hemolytic anemia due to autoantibodies with cholelithic complication. Echotomographic diagnostic importance in a case report].

While the cholelithiasis is very common among chronic hemolytic anemia, it is not in acute. A case of cholelithiasis as a complication of autoimmune acute hemolytic anemia in a 5 years old child is reported. A specific and accurate diagnosis was readily made with grey-scale ultrasound. Serial sonograms were obtained to follow the resolution of this case.

Acute Disease↗

PubMedDate not supplied

[Primary intestinal lymphangiectasis. A case treated surgically].

The authors describe a rare case of primary intestinal lymphangiectasis resolved with surgical treatment. Usually the natural course of the disease is relatively mild and medical nutritional treatment can be sufficient. In this case the lymphatic intestinal anomaly was generalized to the entire small intestine but a distal ileal segment was particularly involved. The surgical resection of this intestinal tract resolved the symptomatology.

Age Factors↗

PubMedDate not supplied

[Hydronephrosis in childhood. Long and mid-term morphologic and functional results].

Hydronephrosis in infancy and childhood is a frequent urinary malformation and is almost always congenital. In over 80% of the cases it is due to ureteropelvic junction obstruction; in about 17%, anomalous renal vessels at the ureteropelvic junction are present. The authors analyze their experience in the surgical treatment of hydronephrosis. 360 hydronephrosis out of 335 patients were operated on from November 1971 to November 1988. 108 patients were less than 1 year old (32.2%). Primary nephrectomy was carried out only in 11 of the 360 hydronephrosis operated on (about 3%). An anterior approach and a simple dismembering pyeloplasty were performed in the majority of the cases. From the radiological point of view there was an impressive amelioration or normalization in about 92% of the cases operated on. From the functional point of view the radionuclide scan showed a normal or slightly reduced renal function in almost 90% of the cases operated on. The preoperative and postoperative radionuclide study showed a moderate increase of the renal function in the majority of the cases controlled. The authors stress the importance of prenatal ultrasound diagnosis to improve long term results of an early surgical treatment.

Child↗

PubMedDate not supplied

[Post-necrotizing enterocolitis stenosis of the colon associated with cytomegalovirus infection. Description of a clinical case].

We report a case of an infant with a post-necrotizing enterocolitis stenosis, resolved with operative measures. The histologic finding of Cytomegalovirus in the resected sigmoid colon rise the question if the intestinal stricture was the proper consequence of a primary enteric viral infection or a superinfection in a transitory immunodeficiency after the acute phase of necrotizing enterocolitis.

Colonic Diseases↗

PubMedDate not supplied

Birth after direct intraperitoneal insemination with frozen semen of donor.

For the first time, as least as far we known, a pregnancy and a normal baby obtained with DII with frozen semen of donor are reported. Our experience not only shows DII with frozen semen may be used successfully in AID but that it poses interesting hypotheses, to be verified in future, of its use in association with, or as an alternative to, GIFT and IVF/ET in cases of AID failure and as a first approach to an insemination technique in AID in general.

Adult↗

PubMedDate not supplied

[Hemoglobin H disease. Presentation of a case].

Haemoglobin H (Hb H) disease, the most important clinical form of alpha-thalassaemia, shows remarkable clinical variability. Hb H si an unstable tetramer of beta-globin chains which accumulates because of the lack of adequate numbers of alpha-globin chains and precipitates in the red cells, causing their premature destruction. A case of Hb H disease in a 9-yr-old child, admitted into hospital for acute haemolysis after use of pyrazolone derived, is presented. Haematologic data with synthesis in vitro of globin chains were obtained from the parents and sister. The clinical and haematologic features of this form of haemoglobinopathy are briefly discussed in the light of recent knowledges of his genetic mechanism of transmission.

Anti-Inflammatory Agents↗

PubMedDate not supplied

[Infantile urticaria pigmentosa. Presentation of a case].

The authors describe one case of urticaria pigmentosa in childhood as contribution to the knowledge of this disease prevalently interesting the paediatric dermatology.

Humans↗

PubMedDate not supplied

[The ureterocele in childhood. Type of treatment and results].

Ureterocele is an infrequent urinary malformation in pediatric age, but it is frequently clinically severe. Ureterocele in a duplex pyelo-ureteral system often presents very difficult treatment problems not uniformly dealt with. Authors report their experience with 79 ureteroceles observed in 72 children. 27 children were less than one year old. In the authors experience simple ureterocele with a single collecting system doesn't give any surgical problem. On the contrary ectopic ureterocele, almost always associated with a pyeloureteral duplication, frequently gives some problems of surgical treatment. Treatment is always individualized but in our experience the best results have been achieved with unroofing of the ureterocele and upper heminephroureterectomy in one stage, eventually associated with lower ureteral reimplantation. This treatment can be used successfully in the majority of ectopic ureteroceles in pediatric age.

Adolescent↗

PubMedDate not supplied

[Posterior urethral valves. Type of treatment and short- and long-term evaluation of renal function].

In this paper the authors have analyzed the management and the outcome of 81 cases of posterior urethral valves which occurred during the period January 1972 - April 1985. 53 children presented very severe urethral valves (grade 4 according to Hendren), 28 mild valve type. All the children of the first group but two had a dilatation of the U.U.T. Vesico-renal reflux, usually severe, was present in 51 ureters; in another 50 ureters a dilatation without reflux was present. 47% of the children of the first group had a renal function within the limits of normality at the moment of presentation and the remaining 53% a reduced renal function. In 9 patients (8 under 50 days of age) a cutaneous vesicostomy according to Blocksom followed, at the age of 10-18 months, by transurethral valve destruction was done. In 6 infants, in the early part of the series, the valve was removed with a hook via the perineal approach. In 38 patients we performed a transurethral valve destruction with the n. 3 Bugbee electrode. 36 out of 53 children (68%) had exclusively a removal of the valvular obstruction. After the removal of the obstruction, 32 out of 37 non refluxing dilated ureters (86.5%) showed a clear improvement. In 7 out of 29 refluxing ureters a nephrectomy was carried out. In the remaining 22 ureters the reflux vanished in 17 and improved in the other 5. 17 children had other types of operations after valvular removal. 23 ureters in 13 patients were reimplanted, with 3 failures (13%). In the 53 children with very severe valve (grade 4) supravesical diversions were not carried out. In the follow-up of 51 children (from 6 month to about 14 years) the renal function was within the limits of normality in 74% (before the operation it was 47%). The best results were obtained in children diagnosed and treated in the first months of life. Cutaneous vesicostomy showed itself to be a very useful method of treatment in very young babies with severe complications. We observed a slight terminal urethral stricture, easily dilatable, in only 1 child. All the children over the age of 12-13 years were continent. In 28 children with mild valves, as well as transurethral valve destruction, an ureteric reimplantation was carried out with success in 5 children (8 ureters) and a vesical diverticulectomy in another 2.

Child↗

PubMedDate not supplied

[Prolonged Q-T syndrome (Romano-Ward syndrome). Description of a case diagnosed in infancy].

A case of prolonged Q-T interval syndrome without deafness (Romano-Ward syndrome) is reported. A 2-month-old female was seen in consultation because of a near-miss event (syncopal attack). An EKG showed a long Q-T interval. Successful therapy was achieved with propanolol.

Arrhythmias, Cardiac↗