Giovanna Nardella

P65 Unilateral renal agenesis: three case reports

Unilateral renal agenesis (incidence of 1/500–1000 newborns), can be isolated or associated with other urological/extra-urological abnormalities. Unilateral renal agenesis (URA) may be suspected after a renal US and confirmed by static renal scintigraphy. We describe 3 cases among the 1299 children born in our Centre in the first half of 2015. S., born at 40 weeks, eutocic delivery. APGAR 8/9, weight 3350 g. In the third day of life a diagnosis of situs inversus viscerum totalis, subaortic stenosis, restrictive ventricular septal defect and atrial septal defect ostium secundum has been made. In the fourth day of life, abdominal US findings were suggestive of right renal agenesis. The patient underwent cystography, negative for reflux, and static renal scintigraphy which confirmed diagnosis. Renal function, cerebral US, audiologial assessment and karyotype were normal. M., born at 27,5 weeks by C-section, APGAR 6/8, weight 1240 g. Mother with gestational diabetes. In the first day of life, patent ductus arteriosus and patent foramen ovale were detected. After 2 months US before discharge revealed right renal agenesis. Cystography was negative and renal scintigraphy confirmed diagnosis. B., born at 34,6 weeks by eutocic delivery. APGAR 7/8, weight 2240 g. As an imperforate anus was detected, the patient underwent renal US which revealed pyelectasis and empty left renal space. Diagnostic management was incomplete because the patient was transported to another Health Care Centre.

P62 Situs inversus viscerum and renal agenesis in a newborn

Situs inversus viscerum is a rare congenital anomaly (incidence 1/15–20 000) in which organs are mirrored from their normal positions. It is called situs inversus viscerum totalis when there is a total transposition of abdominal and thoracic viscera. Incomplete situs inversus viscerum involves transposition only of abdominal organs and is more frequently associated with congenital cardiac defects (90%–95% vs 5%–10% in situs inversus totalis). About 25% of individuals with situs inversus have an underlying condition known as Kartagener Syndrome. As a result of benign pathology, patients with situs inversus viscerum can live normal healthy lives. Situs viscerum inversus can be associated with defects in various organ systems (respiratory, GI tract, genitourinary). In literature there’s evidence of cases of situs inversus associated with renal malformations (dysplasia, hypoplasia, ectopia, polycystic kidney, horseshoe kidney). Association with renal agenesis is rare. We report the case of S., born at 40 weeks, eutocic delivery. APGAR 8/9, weight 3350 g. Normal fetal US. In the third day of life, heart sounds better heard on the right side of the chest. Cardiac US: situs inversus viscerum, dextrocardia, subaortic stenosis, restrictive ventricular septal defect, atrial septal defect ostium secundum. In the fourth day of life, abdominal US findings were suggestive of right renal agenesis. In the 20th day of life, right reducible inguinal hernia. The little patient underwent cystography, negative for vesicoureteral reflux, and static renal scintigraphy with evidence of absent activity in right renal space. Renal function, cerebral US, audiologial assessment and karyotype were normal. No respiratory distress reported. Mucociliary clearance test and a regular follow-up are scheduled.

P90 Occasional diagnosis in newborn of systemic venous return with unexpected persistence of vena cava upper left and absence of vena cava superior right – case report

Congenital abnormalities of the systemic venous return (SVR) are rare, most often asymptomatic and discovered occasionally in the course of imaging studies. The persistence of the left superior vena cava (PLSVC) is the most common thoracic venous anomaly. The prevalence is 0.1%–0.3% in the general population, more common in individuals with congenital heart anomalies (CHA). The PLSVC with the absence of the right superior vena cava (ARSVC) is extremely rare, with a prevalence of 0.09% to 0.13% in patients with other CHA. The PLSVC is given by the persistence of the Marshall vein, counterpart of the superior vena cava in the early stages of embryonic development, which usually regresses during intrauterine development. The PLSVC determines venous return into the right atrium through the coronary sinus (CS), consequently dilated. Patients with abnormal SVR are at greater risk of developing arrhythmias due to possible aberrations in the cardiac conduction tissue in the early stages of development. In fact, the conduction tissue originates from two sites close to the superior vena cava ancestors. Furthermore, arrhythmias could result from structural abnormalities, such as right atrial dilation or CS dilation. We report the clinical case of M.C., female, premature of 33 weeks, birth weight 2450 g, APGAR score 8–9, silent prenatal history. On the second day of life, an echocardiography was performed, since a systolic murmur 1/6 in mesocardium was noticed. In addition to a restrictive interventricular muscle defect, the examination showed the PLSVC with a significant increase of the CS (5 mm), draining into the right atrium, and the ARSVC. During hospitalisation M.C. was subjected to electrocardiogram, oxygen saturation monitoring and heart rate, resulted in the normal ranges. M.C. was discharged on the 12th day of life in good general conditions with a cardiology follow up planned at 1 year of age.

P295 Optical pathway glioma and neurofibromatosis type 1

Background Neurofibromatosis Type 1 (NF1), a autosomal dominant disorder, which mainly involves Skin and nervous system: 15% of children with NF1 develops optic pathway gliomas (OPG), typically Astrocytomas pilocytic low grade, usually in the first decade of life. In one third of cases OPG occur with proptosis, visual impairment, early puberty or other disorders of hypothalamus-pituitary axis. According to current guidelines, children with NF1 should be screened frequently for visual examination and in case of visual impairment, brain MRI with the orbits analysis should performed. The current SIOP-LGG 2004 recommendations, in all cases of no-symptomatic, no-evolving glioma, provide clinical observation with close monitoring; chemotherapy is indicated only in presence of clinical signs and symptoms, or neuroimaging of progression. In the optic nerve tumours, surgery is reserved for patients with blindness, severe proptosis; chiasmatic tumours need surgery in case of exophytic tumours, with cystic component causing severe hydrocephalus or brain compression. patients and methods This is an observational study of 14 cases of OPG (5 males and 9 females) in patients with NF1, diagnosed from 1999 to 2015 c/o Paediatric Oncology Unit of our Department. We evaluated the clinical and radiological course and response to treatment of OPG. Results OPG were located exclusively to the optic nerves level in 43% of patients; 38% presented hypothalamus-optical-chiasmatic localization and 19% had chiasm or optic tracts involvment. The 57% of patients needed of chemotherapy according to the Protocol for Low Grade Glioma, cause of worsening of visual acuity, exophthalmoses or rapid increase of mass-size. The average age of chemotherapy start was 4.6 years (range 1.9 to 7 years). In only two cases there was marked reduction in the size of glioma, while in other cases the radiological picture was confirmed stationary at the stop-Therapy. Chemotherapy has allowed to stabilise the visual impairment, improving in 50% of cases the visual field. Conclusions Our data, accordingly with literature, confirmed that chemotherapeutic treatment for OPG is still unsatisfactory in most cases.

P87 A case of cystinuria

BACKGROUND Cystinuria is an inherited autosomal recessive disorder, characterised by the impaired reabsorbtion of cystine, lysine, ornithine and arginine in the proximal tubule with an increased urinary excretion, resulting in a risk of renal stone formation because of the low solubility of cystine in urine. The estimated rate is 1:15000–20000 live births. This disease is caused by mutations of the genes SLC3A1 (2 P21) and/or SLC7A9 (19q13.11), encoding heavy subunit of a transepithelial dibasic aminoacid transport protein, responsible of type A and B, respectively. The main goal of the treatment is to prevent the recurrent urinary stone formation, and it’s based on hydration therapy, urine alkalinization and cystine chelating drugs. When medical treatment is ineffective, surgery should be considered. CASE REPORT An 8 years old girl was referred to our hospital for recent UTI and low back pain on both sides. Renal ultrasound showed kidney stones on both sides and a grade II of hydronephrosis on the right. A metabolic alkalosis and a low urinary excretion of citrate were discovered. Investigations revealed urinary levels of cystine (418 mmol/molcreat U), lisine, arginine and ornithine upper normal range. The patient has been treated with potassium citrate, antibiotic and hiperhydration. By a molecular analysis a compound heterozygosity for a mutation of the gene SLC3A1 was discovered. Both parents were asymptomatic heterozygous carriers of the same mutation. In a long-term follow up a clinical improvement was assessed, in fact the low back pain disappeared. In addition in different occasions, an urine alkalinization was documented, while the levels of urinary cystine were still high. For this reasons, the patient started the treatment with tiopronin. Conclution Frequent clinical, laboratory tests and ultrasound follow-up is needed to encourage patient compliance and assess efficacy and tolerance of treatment. If there is not an improvement, a cysteine chelation treatment should be evaluated, despite its side effects, or surgery if medical treatment is ineffective.

P88 A strange case of epigastric pain: chilaiditi’s syndrome

BACKGROUND Chilaiditi’s syndrome (CS) is a rare syndrome with an incidence of 0.025%–0.28%, described for the first time by D.Chilaiditi in 1910. Chilaiditi’s sign is characterised by a hepato-diaphragmatic interposition of the bowel. Chilaiditi’s sign is called CS when it is accompanied by symptoms such as abdominal pain, nausea, vomiting, constipation and also respiratory distress. Risk factor for CS are congenital anatomic variations in abdomen and anatomic distortions result of functional disorders (obesity, chronic lung diseases). In differential diagnoses pneumoperitoneum, subphrenic abscess and diaphragmatic hernia have to be excluded. If initial ultrasound or X-ray is unclear, a CT scan can clarify the doubt of the diagnosis. CS is usually a benign process, treated with conservative therapy. However cases described in literature developed with severe complications (perforation, mesentery ischemia, bowel obstruction and death). In case of complications surgery is indicated. CASE REPORT A 14-years-old female with history of obesity, constipation and abdominal bloating was admitted in our Department with epigastric pain, nausea and repeated vomiting. No relevant family history was traced from the interview. Clinical examination revealed increasing epigastric pain after abdominal palpation and intestinal meteorism. Murphy’s sign was positive.Initial laboratory investigations included blood counts, liver and renal function tests, serum electrolytes, CRP and sed rate, resulted all within the normal range. Subsequently, anti-transglutaminase antibodies and Faecal Occult Blood Test were tested, both resulted negative.According with the persistence of symptoms, faecal H.Pylori was investigated, without no positivity. Finally abdomen ultrasound showed a hepato-diaphragmatic interposition of small intestine. The correct diagnosis was CS. ConclutionS Few cases of paediatric patients with CS are described in literature. Our patient had obesity as risk factor:according to her history and physical examination, acute gastritis, H.Pylori’s infection and acute cholecystitis were considered as possible diagnoses. Finally abdomen ultrasound clarified the diagnosis. Our patient was treated with conservative management: esomeprazole, high fibre diet and recommendations in order to lose weight.

EVALUATION OF VITAMIN D LEVELS IN A PAEDIATRIC POPULATION OF SOUTHERN ITALY

OBJECTIVES To evaluate the pharmacokinetics and acid-suppressive effects of esomeprazole in infants with gastroesophageal reflux disease (GERD). PATIENTS AND METHODS In this single-blind, randomized, parallel-group study, 50 infants 1 to 24 months old with symptoms of GERD, and ≥ 5% of time with intraesophageal pH <4 during 24-hour dual pH monitoring, received oral esomeprazole 0.25 mg/kg (n = 26) or 1 mg/kg (n = 24) once daily for 1 week. Intraesophageal and intragastric pH were recorded at 1 week, and blood samples were taken for pharmacokinetic analysis. RESULTS At baseline, mean percentages of time with intragastric pH > 4 and intraesophageal pH < 4 were 30.5% and 11.6%, respectively, in the esomeprazole 0.25 mg/kg group and 28.6% and 12.5% in the esomeprazole 1 mg/kg group. After 1 week of treatment, times with intragastric pH >4 were 47.9% and 69.3% in the esomeprazole 0.25 mg/kg and 1 mg/kg groups, respectively (P < 0.001 vs baseline), and times with intraesophageal pH < 4 were 8.4% (P < 0.05 vs baseline) and 5.5% (P < 0.001 vs. baseline), respectively. The mean number of acid reflux episodes of > 5 minutes duration decreased from 6 at baseline to 3 and 2 with esomeprazole 0.25 mg/kg and 1 mg/kg, respectively. The geometric mean AUC0-t of esomeprazole were 0.24 and 1.79 μmol · h/L for the 0.25 mg/kg and 1 mg/kg dosages of esomeprazole, respectively. Both esomeprazole dosages were well tolerated. CONCLUSIONS Oral treatment with esomeprazole 0.25 mg/kg and 1 mg/kg was well tolerated and provided dose-related acid suppression, dose-related exposure to esomeprazole, and decreased esophageal acid exposure in infants 1-24 months old with GERD.Objectives: To evaluate the pharmacokinetics and acid-suppressive effects of esomeprazole in infants with gastroesophageal reflux disease (GERD). Patients and Methods: In this single-blind, randomized, parallel-group study, 50 infants 1 to 24 months old with symptoms of GERD, and ≥5% of time with intraesophageal pH <4 during 24-hour dual pH monitoring, received oral esomeprazole 0.25 mg/kg (n = 26) or 1 mg/kg (n = 24) once daily for 1 week. Intraesophageal and intragastric pH were recorded at 1 week, and blood samples were taken for pharmacokinetic analysis. Results: At baseline, mean percentages of time with intragastric pH >4 and intraesophageal pH <4 were 30.5% and 11.6%, respectively, in the esomeprazole 0.25 mg/kg group and 28.6% and 12.5% in the esomeprazole 1 mg/kg group. After 1 week of treatment, times with intragastric pH >4 were 47.9% and 69.3% in the esomeprazole 0.25 mg/kg and 1 mg/kg groups, respectively (P < 0.001 vs baseline), and times with intraesophageal pH <4 were 8.4% (P < 0.05 vs baseline) and 5.5% (P < 0.001 vs. baseline), respectively. The mean number of acid reflux episodes of >5 minutes duration decreased from 6 at baseline to 3 and 2 with esomeprazole 0.25 mg/kg and 1 mg/kg, respectively. The geometric mean AUC0–t of esomeprazole were 0.24 and 1.79 &mgr;mol·h/L for the 0.25 mg/kg and 1 mg/kg dosages of esomeprazole, respectively. Both esomeprazole dosages were well tolerated. Conclusions: Oral treatment with esomeprazole 0.25 mg/kg and 1 mg/kg was well tolerated and provided dose-related acid suppression, dose-related exposure to esomeprazole, and decreased esophageal acid exposure in infants 1–24 months old with GERD.

PP30 LOW LEVELS OF 6-KETO PGF 1α AND INCREASED CAROTID INTIMA–MEDIA THICKNESS IN OBESE CHILDREN WITH INSULIN RESISTANCE

PP30 – Table 1 Glucose Insulin HOMA Cholesterol Triglyceride TNF-α 6-keto PG (mg/dl) (μUI/ml) (mg/dl) (mg/dl) (pg/ml) (pg/ml) Group A (76 pts) 89.3±6.6 14.6±7.7 3.2±1.7 161±29 105.4±60 10.1±5.4 185.1±24.1 (44 pts) Group B (80 pts) 88.0±8.5 11.0±5.8 2.4±1.3 162±32 85.4±50 14±7.5 492.6±91.8 (26 pts) p NS 0.001 0.002 NS 0.025 NS 0.002 and cirrhosis) usually occur in middle and late age, atherosclerotic process in the vascular wall and liver damage might begin very early in obese children. Aim of the study: was to investigate, in children attending our outpatient clinic for obesity, 1) any early vascular structural change and the presence of fatty liver; 2) any possible metabolic risk factor. Patients and methods: the study population consisted of 156 children (71 girls), whose BMI z-score was 4.5±1.4 and their mean age was 8.2±2.7 years. They all underwent ultrasonography to measure the intima-media thickness (IMT) of carotids and to study the morphology of the liver. Their serum glucose, insulin, HOMA index, lipids, TNF-α were measured as well. For those who gave their consent (70 pts), 6-keto PGF 1α was also evaluated. Results: according to IMT measurement, patients were divided in Group A (0.6-0.7 mm) with a BMI z-score of 4.6±1.4* and Group B (0.4-0.5 mm) with a BMI z-score of 4.1±0.9* (*p= 0.2). Their data are reported in Table 1. Liver steatosis was present in 23/76 pts of Group A (30.2%) and in 11/80 pts of Group B (13.7%) Conclusions: Increased carotid IMT was documented in 76/156 children (48.7%) and fatty liver in 34/156 (21.8%). Fasting insulin levels, HOMA index, triglyceride levels and 6-Keto-PGF1α were significantly different between Group A and Group B. These data might suggest that higher insulin resistance and triglyceride levels, together with low levels of 6-keto PGF 1α could be considered risk factors for early vascular damage and hepatic steatosis in obese children.