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Aim: Optic pathway gliomas (OPG) are the predominant intracranial tumours associated with neurofibromatosis type 1 (NF1). The aim of this study was to evaluate the prevalence and the outcome of OPG in 200 NF1 patients (122 males and 78 females, aged 1-25 years) followed up to 16 years (mean of 6 years)., Methods: All children were evaluated by a detailed physical, neurological and ophthalmological examination. Fifteen out of 200 (7.5%) of these patients (7 males, 8 females) were identified with evidence of optic pathway tumours., Results: Nine children had symptoms such as endocranial hypertension, seizures, headache; 4 patients only showed anomalies at ophthalmological examination; 2 patients had no symptoms or signs. All children had evidence of optic pathway tumour on magnetic resonance imaging. Three had a prechiasmal tumour, 2 had a chiasmal tumour, 1 had prechiasmal/chiasmal tumour, 2 had a prechiasmal/chiasmal and postchiasmal tumour, 2 had a chiasmal and postchiasmal tumour, 4 had a massive involvement of the optic system, 1 child exhibited a bilateral involvement of the optic nerves with additional impairment of the chiasm. Four patients had partial and/or subtotal spontaneous regression., Conclusions: Because optic pathway tumours arise in children younger than 6 years of age, all NF1 children should undergo yearly ophtalmologic examination and growth assessment to monitor signs of precocious puberty.

We evaluated blood pressure in a sample of patients with neurofibromatosis type 1 (NF1), using ambulatory blood pressure monitoring (ABPM), to determine whether ABPM, when compared with casual BP recordings, allowed the detection of a higher risk for hypertension. We also evaluated the correlation between BP and vascular abnormalities. We studied 69 NF1 patients (36 males and 33 females) with a mean age of 11+/-4 years, divided into group A, with 24-h mean systolic blood pressure (SBP) or diastolic blood pressure (DBP) <95th percentile, and group B, with mean SBP or DBP >95th percentile. Standard electrocardiography and M-mode, two-dimensional echocardiography were performed and all patients were in sinus rhythm. ABPM identified 11 hypertensive patients (16%); 5 had a mean SBP >95th percentile, 3 mean SBP-DBP >95th percentile, and 3 a mean DBP >95th percentile. Laboratory and other investigations to exclude secondary hypertension were normal. Cardiac abnormalities were found in 13 of the 69 patients (18.8%) with NF1. There were no significant clinical and cardiac differences between the normotensive and hypertensive group. Our data emphasize the importance of periodic ABPM in NF1 patients to diagnose hypertension early and avoid target organ damage and increased mortality.

Purpose: We evaluated the relationship between renal biopsy changes and preoperative and postoperative renal scans in 29 male and 14 female infants with prenatal severe hydronephrosis and unilateral ureteropelvic junction obstruction. We also verified on immunohistochemical studies glomerular changes, degeneration of the epithelium of the proximal tubules, interstitial fibrosis and inflammation and apoptotic nuclei., Materials and Methods: In the children, all with prenatal diagnosis of hydronephrosis, ureteropelvic junction obstruction was diagnosed with 99mtechnetium mercaptoacetyltriglycine renal scan performed in all patients at ages 4 to 6 weeks to establish baseline differential renal function. All patients underwent renal biopsies at the time of pyeloplasty. The biopsy samples were examined with histological and immunohistochemical methods for antigens associated with apoptosis, such as clusterin, CD95, TDAG51 and bcl-2. Renograms were performed 3 months after surgical repair., Results: The male-to-female ratio was 2.1:1. There was no difference between males and females in regard to baseline differential renal function of the affected kidney. All biopsy samples confirmed degeneration of the epithelium of the proximal tubules, interstitial focal fibrosis was found in 4 samples, mild chronic inflammation with lymphoid aggregates in 4 and focal Bowman's space dilatation in 1. No specimen demonstrated apoptotic nuclei as confirmed by immunohistochemical study which showed the presence of bcl-2 and absence of CD95, TDAG51 and clusterin, probably because there was no dysplasia in the samples examined., Conclusions: These results indicate absence of apoptosis in the kidney with preoperative uptake less than 40% and minimal histological changes.

Primary vesico-ureteral reflux (VUR) is a common disorder in children, with an incidence in an unselected population between 0.5-1%. Twenty seven to forty five percent of an affected patient's siblings will have VUR between birth and children of 2 years or younger. VUR is caused by a structural abnormality of the vesico-ureteral junction, characterised by an abnormally short submucosal segment of the ureter or deficiency in the musculature of the intravesical ureter. The etiology of this malformation is currently not well known, but it is probably related to an abnormal development of the ureteral bud. Several genes, such as PAX2 or similar genes, are involved in this development and the interrelationship between these different genes is slowly being unravelled, providing a first insight into the complex molecular cascade directing the embryogenesis of the excretory system. Each gene involved in the development of the excretory system is a potential candidate gene for VUR. Sanyanusin et al. have identified frameshift mutations in exon 5 in PAX2 in several patients with coloboma-ureteric-renal syndrome, which involved VUR as part of the phenotype. In a separate study, linkage to PAX2 was excluded in a three generation pedigree involving individuals with VUR and renal hypoplasia. These results suggest that VUR is a genetic condition, inherited as an autosomal dominant disorder.

We retrospectively examined 93 children (47M/46F) with primary vesicoureteric reflux (VUR) followed for a mean period of 3.5 years. They were divided into two groups. Group A included 34 babies (25M/9F) with a prenatal diagnosis of pelvic dilatation. Mean age at presentation was 12 days and no urinary tract infection (UTI) occurred before our first examination. VUR was unilateral in 21 (62%) patients and bilateral in 13 (38%). It was mild (grades I-III) in 12 (25%) refluxing renal units (RRU) and severe (grades IV-V) in 35 (75%). Renal damage (RD) was present, at diagnosis, in 40 (85%) RRU. There was a greater prevalence of abnormal kidneys in male units (88%) than in female units (75%). Group B included 59 infants (22M/37F) less than 1 year old with UTI. The mean age at first examination was 7.6 months. VUR was unilateral in 32 (54%) infants and bilateral in 27 (46%), mild in 60 (70%) RRU and severe in 26 (30%). At diagnosis, 54 (63%) RRU presented RD, which was more common in females (66%) than in males (44%). Our study confirms that primary VUR associated with prenatal hydronephrosis usually affects males and is severe. VUR diagnosed after UTI, instead, is more common in females and is frequently mild. Although in the first type of reflux RD is often present at diagnosis, then probably congenital, it may always progress after UTI; hence the importance of early diagnosis and careful follow-up in each infant with primary VUR.

Background: The aim of the study was to evaluate, in children with chronic renal failure and in conservative treatment, the degree to which their growth was compromised, in relation with bone age and with GRF., Methods: The growth of children (12 F, 14 M) with CRI has been evaluated retrospectively in relation to bone age and GFR. Their mean age at diagnosis was 5.8 years. The pathologies-causing CRI were, in particular, congenital anomalies and hereditary nephropathies. The mean follow-up was 6.1 years., Results: No significant difference was found between bone age (BA) and chronologic age (CA) (4.7 +/- 3.4 vs 5.7 +/- 3.5 years, p < 0.3) at diagnosis, while it was lightly delayed (8.6 +/- 5.2 vs 11 +/- 5.6 years, p < 0.07) at the end of the study. At diagnosis the mean height SDS for CA was 0.64 +/- 1.12, at the end of observation was -1.2 +/- 1. Only in 3 patients height was < -2DS: two of them underwent rhGH treatment; the third patient had a growth potential exhausted. The mean height velocity (HV) was 6 +/- 4.2 cm/y at diagnosis and 4.8 +/- 3 at last observation (p < 0.3). No significant difference at diagnosis was found between the HV cm/y and GRF stratified for range, at follow-up there was light significant difference between HV and light CRF vs severe (p < 0.02). Likewise no significant relationship between HV and CA was observed. Actually 20 patients are in conservative treatment, 6 received renal transplantation: for them the growth has been proportional to reached renal function and age of receiver., Conclusions: The conservative therapeutic regimens and good compliance allowed to limit growth deficiency.