Search

Sickle cell disease is a rare condition in italian patients and even rarer are its complications, in particular Salmonella osteomyelitis. We describe a case of a Ghanaian child with sickle cell disease who developed osteomyelitis due to Salmonella panama, treated successfully with surgical debridement, followed by a prolonged period of specific antibiotic therapy.

Polyorchidism is a rare anomaly with approximately 70 cases reported in literature. The exact explanation for the production of polyorchidism is not known, although several theories have been proposed, including anomalous appropriation of cells, initial longitudinal duplication of the genital ridge and transverse division of the genital ridge, either through some local accident of development of peritoneal bands. A functional classification based upon the embryogenic development is provided. Type I: the supernumerary testis lacks an epididymis and vas. The split-off part of the primordial gonad does not communicate with the mesonephric tubules from which the epididymis develops. Type II: the supernumerary testis is linked to the regular testis by a common epididymis and shares a common vas with it. The division of the genital ridge occurs in the region where the primordial gonads are attached to the mesonephric ducts, although the latter are not divided (incomplete division). Type III: the supernumerary testis has its own epididymis but shares the vas with the regular testis. This variant results from a complete transverse division of the genital ridge. In the majority of the reported cases, the patients are asymptomatic and have painless groin or testicular masses. Approximately 50% occur as maldescent or cryptorchidism, and about 30% are associated with indirect hernia. The remaining 20% are discovered variously in relation to torsion, or are associated with hydrocele, epididymitis, varicocele or infertility. Moreover, since there is a 20 to 40 fold increase in testicular malignancy in patients with cryptorchidism compared with the normal testis, tumours of the supernumerary testicles are not unusual. We reported two cases of polyorchidism: the first patient is probably a longitudinal division of the genital ridge and the second is a completely duplication of the primordial gonads. The patients described vague, intermittent, testicular pain. Physical examination and the scrotal sonography and magnetic resonance revealed in the first patient a supernumerary testis in the right scrotal space and in the second a bilateral double testis. In conclusion we think that in the absence of any concomitant disorder and if testicular tumor can be ruled out by ultrasonography and magnetic resonance imaging, surgical exploration with biopsy is unnecessary.

Many pathogenetic factors may enhance coagulation process and induce thrombosis. The Authors report a case of hemolytic-uremic syndrome, with marked evidence of macroscopic kidney thrombotic involvement, in which an important dyslipidemia (hypertriglyceridemia and hypercholesterolemia) was detected during the phase of clinical improvement. These findings, and the contemporary marked reduction of fibrinolytic activity, seem to be relevant pathogenetic factors in this case. The treatment with polyunsaturated fatty acids Omega 3 may have been helpful in modifying these serum abnormalities and maybe could have brought to the clinical improvement.

Diagnostic imaging modalities play a key role in the definition of the possible causes of constipation. Barium Enema (BE), Defecography (DG), Intestinal Transit Time (ITT), Computed Axial Tomography (CT) and Magnetic Resonance (MR) are necessary diagnostic tools for the identification either of the possible organic causes of the disease or of the functional disorders. The ITT evaluation is the main investigation to look for functional colic constipation; this method is in fact able to distinguish between the hypertonic type (in which the fecal progression is slowed down to such an extent that radiopaque markers accumulate in the most proximal part of the colon) and the atonic one (characterized by a global slowing down with the markers distributed along the whole colon). DG gives very accurate dynamic documentation of the pathologic alteration of the rectum-anal conduit, as well as of the disease of the supporting and anchoring system and of the levator complex; this type of investigation allows the definition (characterisation) of the different types of the functional rectum-anal constipation. Even in this case TAC and RM can greatly contribute to the definition of the whole picture of the constipation.

Two cases of focal occipital epilepsy with cerebral calcifications poorly responsive to antiepileptic treatment are described. In both cases coeliac disease was diagnosed and folic acid deficiency documented. A gluten-free diet and a brief supplementation with folic acid lead to a complete EEG and clinical normalization in one case and to a significant improvement of EEG and seizure control in the other.

Osteoporosis is one of the most difficult problems in the management of Chronic Juvenile Arthritis (JCA). The available data suggest that bone loss results from multifactorial processes which lead to bone degradation through the activation of osteoclasts. Biphosphonates are synthetic factors that, once localized on the surface of hydroxyapatite crystals, do not allow either the production or destruction of the crystals. This activity seems to be due to cytotoxicity against osteoclasts and to inhibition of prostaglandin E2 synthesis. There is some evidence that these drugs are effective in the treatment of osteoporosis in several diseases. In an attempt to reduce or prevent osteoporosis in children affected by JCA we started a trial with disodium clodronate, a type of biphosphonate. Thirteen patients were enrolled in the study: 7 received disodium clodronate and 6 acted as control subjects. Before starting the therapy and after one year we performed a CT scan to evaluate the mineral bone density in all patients. The mean bone density increased from a bone mineral content of 129 mg/cc before treatment to 134 mg/cc after treatment (8% increase); control patients passed from 123 mg/cc to 115 mg/cc (7% decrease) in the same period. Only one child stopped treatment because of gastrointestinal side effects. The small number of patients enrolled in the trial does not allow any definite conclusions to be drawn, but the data are interesting and worthy of further study.

The purpose of the study is to analise the immunological function of children suffering from RRI long after the last episode in order to evaluate whether the immunological abnormalities reported by several authors have to be considered implicated in the pathogenesis or the mere consequence of recurrent infections. 65 children who had been suffering from RRI in the previous winter (s) have been studied during the wellbeing condition of the following summer season. A defective T cell function was no longer found; the study of humoral immunity showed low values of IgA even though no child had an IgA selective deficiency (IgA below 5 mg% ml). These data suggest that T cell defective function has to be considered mainly secondary to infections. It is conceivable that in these children the recovery of T cell function is impaired by viral infections and is somewhat slower. On the other hand low values of IgA have been detected in a higher percentage with respect to the general population and could be considered typically associated with the RRI syndrome in children.

Eight children with Graves' disease and five children with Hashimoto's thyroiditis admitted to the Pediatric Department of the University of Trieste in the period 1980 to 1985 have been reviewed. The purpose of this study was to define the clinical course of autoimmune thyroid diseases and to evaluate the frequency of HLA haplotypes and immunological abnormalities in the affected patients and in their family members. Antithyroid microsomal antibodies were observed in 87.5% of the hyperthyroid patients and in 13.3% of their siblings and parents, in all the patients affected by Hashimoto's thyroiditis and in 18.18% of their first degree relatives. HLA A1-B8 was found to be associated with Graves' disease, HLA B35 was linked to chronic lymphocytic thyroiditis. Using monoclonal antibodies for enumeration of the subsets of T lymphocytes a deficit in suppressor T-cells was demonstrated in subjects affected by autoimmune thyroid diseases as in other immunological disorders.

Fifty-eight consecutive cases of patients affected by Crohn's disease, with ileum (23/58), colon (10/58) and ileo-colic (25/58) involvement were studied. A good overall sensitivity was reached by the radiological procedures employed (barium meal, barium enema, enteroclysis). Enteroclysis is proposed as a second-step method for the study of ileum involvement, because it provides a quite precise assessment of disease stage and extent. Some criteria for a rational use of current radiological procedures in the follow-up of both surgically and medically treated patients are proposed. Moreover it is suggested that better coordination of anatomo-radiological and clinical aspects could improve the therapeutic approach and prognostic judgement in such cases.

A case of severe juvenile rheumatoid arthritis, polyarticular type, refractory to FANS and long acting therapy which showed a quick remission after measles is described. An immunosuppressive therapy to strengthen the immunosuppression induced by virus infection was performed for six months. The remission has been maintained for 4 years and appears up to now to be stable with no therapy. On the basis of this observation, the possibility of a vaccination therapy with measles virus, which equally gives immunosuppression, is discussed.