Papers by Francesco Randisi
PURPOSE Enucleation had long been the mainstay of therapy in retinoblastoma patinets. The effect ... more PURPOSE Enucleation had long been the mainstay of therapy in retinoblastoma patinets. The effect of enucleation on the architecture and integrity of the pre-chiasmatic and post-chiasmatic visual pathway is not known. The aim of the study is to reveal fiber reorganization in the visual pathway following unilateral enucleation. METHOD AND MATERIALS Patients (n=15) with retinoblastoma in a age range of 0-18 years were included in the study. Patients who undergone unilateral enucleation were recalled and received MRI examination including advanced brain imaging for quantitative measurements. A 1.5 Tesla (Achieva Nova Dual, PHILIPS) magnet was used. The advanced imaging protocol included the analysis of the visual pathway by means of measures of fiber integrity using diffusion tensor imaging (DTI). Mean values of fractional anisotropy (FA) were determined at the level of the optic nerves and optic radiations in unilateral enucleated patients. Statistical analysis was performed using SPSS...
Pediatric Blood & Cancer, 2015
International Journal of Pediatric Otorhinolaryngology Extra, 2011
Objectives: To present the results of surgical treatment and long term follow-up of two cases of ... more Objectives: To present the results of surgical treatment and long term follow-up of two cases of congenital cholesteatoma in young children extending into the posterior cranial fossa. Method: A retrospective review of 264 children, surgically treated for cholesteatoma of the temporal bone between 1999 and 2008 was performed. The presenting symptoms, tympanic membrane findings, surgical findings, methods, and results were
Anticancer research, 2014
Trilateral retinoblastoma (TRB) is a rare disease associating bilateral retinoblastoma (RB) with ... more Trilateral retinoblastoma (TRB) is a rare disease associating bilateral retinoblastoma (RB) with primitive intracranial neuroblastic tumor. To verify the occurrence of TRB in a single-Center case series and point out the clinical relevance of a baseline brain magnetic resonance imaging (MRI) in RB, focusing on pineal gland lesions. Baseline MRI was routinely performed in all cases of RB from 1999. All MRIs were reviewed for this study and the RB database was checked in order to identify patients characteristics, treatments and follow-up. A total of 107 patients with RB were diagnosed between 1999 and 2012. Sixty-two patients had unilateral RB and 45 bilateral RB. MRI revealed the presence of pineal gland lesions in 10 patients (9%); seven were considered pineal benign cysts (6.5%), while in three patients (2.8%), TRB was suspected. All patients with TRB presented hereditary RB. In one patient, the suspected TRB was metachronous and in the other two patients was synchronous. Biopsy w...
La Radiologia medica, 1994
The patients affected with cervical injuries often complain of cervical pain, headache and dizzin... more The patients affected with cervical injuries often complain of cervical pain, headache and dizziness even when no bone fractures are detected. Such patients are likely to have a post-traumatic injury of the cervical ligaments. Twenty-five symptomatic patients (19 women and 6 men) were examined with upper spine CT and functional CT scans (right and left rotation) to detect ligament injuries and hypermotility of the craniocervical junction, both related to traumatic events. Eleven patients showed no alterations, while unilateral densitometric alterations of the alar ligaments were observed in 14 cases and thought to be related to trauma. On axial CT scans, the normal alar ligaments were identified as paramedian, quadrangular soft-tissue structures at the apex of the dens epistrophei and right above it. In 14 patients with alar ligament injuries, CT showed incomplete ligament interruption and thinning in 12 cases and its total absence on all images in 2 cases. The laterodental space in...
La Radiologia medica, 1995
Nonspecific osteomyelitis in children and adolescents can be diagnosed in patients 2 to 16 years ... more Nonspecific osteomyelitis in children and adolescents can be diagnosed in patients 2 to 16 years old and may present as acute, subacute or chronic. During the last 9 years, 40 pediatric patients (aged 2 to 16 years) affected with extra-axial inflammatory bone lesions were examined. The series of cases was then reviewed. This work was aimed at investigating the role of various imaging modalities: conventional radiology (CR), bone scan with technetium-99 methylene diphosphonate (99mTc-MDP), scintigraphy with technetium-esamethylpropylenaminoxima labelled leukocytes (99mTc-HMPAO), computed tomography (CT) and magnetic resonance imaging (MRI) were used to detect the lesions, to make a differential diagnosis and to assess different disease stages. As for acute osteomyelitis (6 patients), CR showed a lytic lesion, periosteal new bone and soft tissue swelling in 4/6 patients; no abnormalities were demonstrated in the other two. Bone scan, CT and MRI depicted bone involvement. CT and MRI al...
Imaging del trauma osteo-articolare in età pediatrica, 2009
Blood Coagulation & Fibrinolysis, 2012
Lateral sinus thrombosis (LST) is an uncommon, but life-threatening complication of both acute an... more Lateral sinus thrombosis (LST) is an uncommon, but life-threatening complication of both acute and chronic otitis media. There is some evidence that acquired or hereditary prothrombotic disorders are risk factors for LST. The aim of this work was to evaluate the role of thrombotic screening, anticoagulant therapy or prophylaxis in patients with either acute or chronic otitis media and LST. The medical records of five children hospitalized at Pediatric Hospital Bambino Gesù of Rome because of acute or chronic otitis media complicated by mastoiditis and LST were reviewed. All children underwent laboratory workup for hypercoagulability. All the five children were found to be heterozygote for the C677T MTHFR mutation and a child presented also heterozygosity for factor V Leiden mutation. They have been successfully treated with anticoagulant therapy without sequels. Children with acute or chronic otitis media may have a prothrombotic tendency that becomes clinically evident because of the inflammatory state. Patients with a family and/or personal history of thrombosis and/or thrombophilic conditions need anticoagulant prophylaxis also in the absence of clear signs of LST. Treatment with low molecular weight is successful in patients with LST.
American Journal of Medical Genetics Part A, 2012
Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus c... more Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, hypopigmentation, cataract, cardiomyopathy, and immunological abnormalities. Recurrent infections, mainly affecting the respiratory tract, have been reported in the majority of cases, representing an important risk factor for morbidity and mortality. The immunological phenotype of patients is extremely variable, ranging from a combined immunodeficiency to nearly normal immunity. We report on a new patient with Vici syndrome, in whom we have extensively investigated immunological features. Despite a mild impairment of the cellular compartment, a defect of humoral immunity was found, requiring treatment with intravenous immunoglobulin. A wider knowledge of immune system abnormalities of Vici syndrome will help to plan strategies for treatment and prevention of infections, such as immunoglobulin replacement and antimicrobial prophylaxis, resulting in improved survival rates.
European Journal of Paediatric Neurology, 2013
Mutations of TUBA1A gene were first identified as causing a distinctive neuroradiologic phenotype... more Mutations of TUBA1A gene were first identified as causing a distinctive neuroradiologic phenotype characterized by cortical abnormalities ranging from classical lissencephaly to perisylvian pachygyria with dysgenetic corpus callosum, brainstem and cerebellum. We describe the clinical and neuroradiological features of a 3 years old girl carrying a novel missense TUBA1A mutation associated with asymmetrical polymicrogyria and provide structural data about the mutation. Our case confirm that the spectrum of tubulin-related cortical phenotypes is wide and that the screening of these genes should be implemented in patients with mid-hindbrain dysgenesis, partial of complete corpus callosum agenesis and varying degrees of cortical abnormalities.
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Papers by Francesco Randisi