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Purpose: To evaluate a patient population affected by Neurofibromatosis type 1 (NF1) with special reference to optic pathway gliomas., Material and Methods: A total of 419 NF1 patients (222 men, 197 women) were retrospectively evaluated to show incidence, biological behaviour, neuroradiological and clinical presentation of optic pathway gliomas. Central Nervous System MR and ophthalmologic evaluations were reviewed., Results: Thirty-two patients out of 419 (7.6%) showed the presence of optic pathway gliomas. Of these, 28 (87.2%) patients showed tumoral involvement of the optic chiasma. The right intracranial optic nerve was involved in 15 patients (46.8%), the left intracranial optic nerve in 18 (56.2%), the right extracranial optic nerve in 11 (34.3%), the left extracranial optic nerve in 10 (31.2%) and the right and left optic tracts in 6 (18.7%) patients. Geniculate body and optic radiation were not involved by tumour diffusion. Visual acuity testing was positive in 26/32 (81.2%), the fundus oculi in 11/32 (34.3%) patients and the visual field evaluation in 12/32 (37.5%) patients., Conclusions: In this study we showed an high correlation between optic pathway tumours and ophthalmologic abnormalities confirming the usefulness of an integrated clinical-neuroradiological approach in patients affected by NF1. We also described the biological behaviour of these tumours in our NF1 patient population.

Neurofibromatosis type 1 (NF1) is a progressive, multisystem disorder affecting about 1:3000 individuals. About one third of patients show serious complications and about one half are mildly affected. Since the original National Institutes of Health Consensus Conference in 1987, that established the clinical criteria for the diagnosis of NF1, there has been significant progress toward a more complete understanding of the molecular bases for NF1, and our knowledge of the natural history and management of the NF1 has significantly improved. Despite these advances, the diagnosis of NF1 is still based largely on clinical criteria and no individual prognostic evaluation or definitive medical therapy are available. The recommendations for the care of NF1 patients and their families are constantly changing: according to the new guidelines, the mainstay of management is anticipatory guidance and surveillance for treatable complications; surveillance usually includes annual follow-up visits, unless symptoms call for more frequent visits or more accurate diagnostic evaluation.

The increasing immigration from developing countries has determined new health problems. Italian Pediatricians must become acquainted with these health concerns such as the excessive use of public pediatric structures, especially hospitals, specific diseases unusual among Italian children (malaria, tuberculosis, tropical parassitosis, sickle cell anemia, rickets and others), control of previous immunizations and repetition when one is not sure of their efficacy. Moreover, immigrated children seem to be more susceptible to common pediatric diseases (mostly infections) than Italian children. Finally, children adopted from developing countries deserve special attention because they arrive from a very poor social context with frequent history of important infectious diseases, congenital diseases, malnutrition and abuse. Central precocious puberty is a frequent evolution in some of the adopted girls.

Purpose: To analyze the extracerebral manifestations of type 1 neurofibromatosis (NF-1), with special reference to peripheral nerve tumors., Material and Methods: The findings of 376 NF-1 patients (194 men and 182 women; age range: 0.1-48 years, mean: 8.1) were retrospectively reviewed. The patients had been submitted to abdominopelvic and superficial US and, in case of abnormal US findings or in the presence of symptoms, to CT and/or MRI. In addition, we considered 5 more patients (2 men and 3 women; age range: 50-72 years, mean: 64.4) with incomplete forms of NF-1 diagnosed after the finding of nerve sheath tumors. Biopsy (12 cases), surgery (10 cases), or clinical-instrumental follow-up were the study criteria., Results: In the first group of patients we identified 91 cutaneous, 222 subcutaneous, 11 pendulous and 25 internal neurofibromas. Plexiform neurofibromas were found in the neck (1 case), chest (6 cases), abdomen (16), pelvis (8). We also found 1 benign and 1 malignant Schwannomas, 2 nerve sheath fibrosarcomas, 1 dopamine-producing sympatoma and 1 spermacytoma. As for the second group of patients, we had 2 Schwannomas, 1 pulmonary neurofibroma, and 2 multiple plexiform neurofibromas. The neurofibromas exhibited homogeneous US hypoechogenicity or slight echogenicity, with little contrast enhancement at CT. MR showed peripheral hyperintensity and central hypointensity on T2-weighted sequences and marked contrast enhancement after gadolinium, sometimes with mostly central uptake. The plexiform neurofibromas, which are typical of NF-1, had poorly-defined or infiltrating margins, with similar findings to the previous ones but sometimes with less homogeneous patterns at both US and CT. The Schwannomas, which are a less common finding in NF-1, exhibited different features at MRI and CT, namely pseudo-liquid or solid-inhomogeneous patterns with irregular and inhomogeneous contrast enhancement relative to the Antoni A/B tumor component. In the malignant lesions we observed infiltrating patterns, with irregular and inhomogeneous contrast enhancement, arranged asymmetrically relative to the contralateral lesion., Conclusions: Extra-axial neoplasms are a frequent finding in NF-1. Despite the extremely variable appearances of some lesions (particularly Schwannomas), the typical plexiform neurofibroma exhibits characteristic patterns. The diagnosis of malignancy often requires bioptic confirmation.

For the first time in Italy, the results of a multicentre study of the Study Group into Juvenile Hypertension of the Italian Society of Paediatrics in 16.772 subjects from 0 to 18 years, are presented. Percentile charts (tables) of juvenile blood pressure (BP) levels according respectively to age and height of the subjects divided by sex, have been elaborated. Also pressure curves have been calculated and drawn that are based on standard deviations (DS). Normal levels are between + and -2DS. The relationship of BP levels with age permits the comparison with the Task force Tables, whilst the relationship with height permits comparison with the European data.

87 prepuberal children, 2-15 years old, 58 with unilateral and 29 with bilateral cryptorchidism, were treated intramuscularly with Human Chorionic Gonadotropin (HCG). HCG was administered in 16 children in single dose (5.000 IU/m2), in 11 children every other day for one week (3 x 1,500 IU) and in 60 children twice a week (2 x 1,000 IU) for 3-7 weeks. Treatment was successful in 31% of children. The most effective HCG dosage ranged between 10,000 and 14,000 IU (2 x 1,000 IU once a week for 5-7 weeks). The best therapeutic response was obtained in inguinal cryptorchid testes (39,3%), in unilateral cryptorchidism (34,5%) and in children aged 5-10 years (42,3%). The observed androgenic side effects (32%) subsided within 3-12 months after therapy suspension. The HCG therapy appears of particular value in cryptorchidism treatment. Surgical management is indicated in cases of true ectopic testes and after failure of HCG therapy.

76 patients (prepuberal, puberal and adults) who had undergone surgery for monolateral (35) or bilateral (41) cryptorchidism in childhood were studied. Testicular volume (76 cases), seminiferal function (18 cases) and pituitary gonadotropin reserve (51 cases) were evaluated. We obtained the following results: 1) the prepuberal patients had a normal testicular volume, while 70% of the puberal and adult patients had a mean testicular volume below normal levels. 2) 55.6% of the adults who underwent spermiogram had a pathological seminiferal function. 3) The number of patients whith exagerated gonadotropin response to GnRH-test increases with increasing puberal stage and reaches its highest significance after complete puberal development. These data confirm that: 1) the long permanence of one or both testis out of their natural position has a negative influence on their trophism; 2) the long-term prognosis of the tubular function of the testis after orchidopessis is poor in a high percentage of cases. 3) the endocrine anomalies which follow the early morphologic and functional changes of the cryptorchid testis are more easily detected during puberty as a reduced hypothalamic feedback of the gonadotropin secretion.