S. Gorgoglione

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.

P101 A case of rare meningioangiomatosis associated with cortical dysplasia

Meningioangiomatosis(MA) is a rare malformative or hamartomatous lesion involved in meninges and cortex. Although it was originally described in association with NF-2, recent studies have revealed that it occurs more frequently in sporadic form. The pathogenesis remains unclear. MA has distinct histological and biological features to meningioma(M) but their association(MA-M) isn’t unfrequent. Case report a 12-years-old male was referred to our paediatric division for a history of headhache associated to malformative lesions shown at a first radiological investigation (CT and MRI) done in other hospital when he was 6 years old. At that time, neurosurgeons recommended follow up program. The lesions haven’t change over the years, as shown at the follow-ups, however the persistence of headhache induced the family to request a second opinion. Our physical examination showed mental retardation. He had no family history or stigmata of NF2 and no seizure’s history, electroencephalography didn’t show anomalies. A head CT scan showed the presence of a right hyperdense single mass with gyriform signal pattern and clumped intralesional calcifications. MRI showed an intracranial mass measuring 2x3 × 2.5 cm located in the right posterior frontal cortex. The lesion was hyperintense on T2-weighted imaging and weakly hypointense on T1W1, with ring-like enhancement. MRI confirmed gyriform signal pattern associated to focal areas of cortical fronto-parietal dysplasia. The diagnosis of MA was made. Our patient didn’t present seizure and the lesions appeared stable compared with the previous MRI so, in compliance with the neurosurgeon’s advice, we established a long-term follow up program in association with symptomatic therapy for headhache. MA occurs mainly in children and younger adults with male predisposition, suffering from intractable seizure and less frequently headhache. Atypical symptoms included vomiting, diabetes insipidus, facial weakness, muscle atrophy and pain. MA is a single lesion usually stable or slowly growing. Imaging diagnoses for MA is difficult. The most common finding on CT is a round, single, hypodense mass with varying degrees of calcification. On MRI, the lesions seem confined to the cortex. On T1WI, MA shows a low or iso-intense signal, on T2WI lesions are more frequently hyperintense, but sometimes they can be hypointense. A gyriform signal pattern is common on either CT or MRI, typical of sporadic MA and it’s helpful to distinguish pure MA from MA-M.

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.

P107 Autoimmune lymphoproliferative syndrome (ALPS) in a child: a new disorder to ‘climb’

Autoimmune lymphoproliferative syndrome (ALPS) is a rare disorder of the immune system caused by a mutation in the Fas apoptotic pathway. It can present with a wide range of clinical manifestations, including noninfectious nonmalignant lymphoadenopathy, splenomegaly and autoimmune pathology (frequently autoimmune citopenias). Revised diagnostic criteria allowed an improvement in its management. A 3-year-old boy was hospitalised for severe isolated thrombocytopenia (PLT 8000/mcl) and hemorragic syndrome. On physical examination, he had inguinal limphoadenopathy. His blood exams showed positivity for autoimmunity and normal lymphocyte population. Bone marrow aspirate revealed an immune throbocytopenia, so he started treatment with Immunoglobulins (Ig), with a good response. We performed an exeresis of his inguinal lymph node, increasing in dimensions, and found reactive follicular hyperplasia with dermatopathic aspects in absence of neoplasy. After one month, thrombocytopenia associated with neutropenia (N 800/mcl), positivity of direct and indirect Coombs test, anti-neutrophils antibodies negatives and splenomegaly on sonography. He assumed steroids for 2 weeks, with a good response. After 4 months, he presented again with thrombocytopenia, associated with emolitic autoimmune anaemia (Hb 5,2 g/dl) so he began therapy with Ig and steroids, with initial good response. Two months after stop therapy, new episode of thrombocytopenia, hemorragic syndrome and an increase of his splenomegaly. Therefore, we performed FAS-induced apoptosis test (negative) and researched double negative lymphocites that were positive (CD3+TCRαβ+CD4-CD8-:3,5%; CD19+CD27+:4,8%; CD3+CD25+/CD3+HLADR+ ratio:0,1%). He started therapy with mycophenolate mofetil and with Ig on demand. As we obteined a poor response, we shifted it to syrolimus, with progressive reduction of splenomegaly and increase of PLT. ALPS is a rare pathology that should be investigated in children with autoimmune citopenias and nonmalignant limphoproliferation. Its various clinical manifestations complicate diagnosis and treatment. First line treatment includes prednisone and Ig; for unresponsive patients mycophenolate mofetil and syrolimus are effective, the latter in children with refractory multilineage autoimmune cytopenias. Research over the past decades have increased our knowledge on its pathophysiology resulting in an improvement of its management. Its diagnosis is indeed crucial as ALPS may progress to lymphoma.

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.