Andrea Rossi

Summary

Affiliation: G. Gaslini Institute
Country: Italy

Publications

  1. ncbi request reprint Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder
    A Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Genoa, Italy
    AJNR Am J Neuroradiol 29:301-5. 2008
  2. doi request reprint New MR sequences (diffusion, perfusion, spectroscopy) in brain tumours
    Andrea Rossi
    Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Largo G Gaslini 5, Genova 16147, Italy
    Pediatr Radiol 40:999-1009. 2010
  3. ncbi request reprint Neuroradiology of chemotherapeutic. Neurotoxicity in children
    A Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital Genoa, Italy
    Neuroradiol J 23:183-90. 2010
  4. doi request reprint Pediatric spinal infection and inflammation
    Andrea Rossi
    Department of Pediatric Neuroradiology, Istituto Giannina Gaslini, Via G Gaslini 5, Genova I 16147, Italy Electronic address
    Neuroimaging Clin N Am 25:173-91. 2015
  5. doi request reprint Magnetic resonance spectroscopy in metabolic disorders
    Andrea Rossi
    Pediatric Neuroradiology Unit, Istituto Giannina Gaslini, Genoa 16147, Italy
    Neuroimaging Clin N Am 23:425-48. 2013
  6. pmc Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients
    Marilena Briguglio
    Division of Child Neurology and Psychiatry, Dept of Medical and Surgical Pediatric Sciences, University of Messina, Messina, Italy
    Orphanet J Rare Dis 6:36. 2011
  7. ncbi request reprint Spinal dysraphism: MR imaging rationale
    A Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Genoa, Italy
    J Neuroradiol 31:3-24. 2004
  8. ncbi request reprint Prenatal MR imaging of dural sinus malformation: a case report
    Andrea Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Hospital, Genoa, Italy
    Prenat Diagn 26:11-6. 2006
  9. ncbi request reprint Spectrum of nonterminal myelocystoceles
    Andrea Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s, Research Hospital, Genoa, Italy
    Neurosurgery 58:509-15; discussion 509-15. 2006
  10. ncbi request reprint Bilateral germinoma of the basal ganglia
    Andrea Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Hospital, Genoa, Italy
    Pediatr Blood Cancer 50:177-9. 2008

Detail Information

Publications134 found, 100 shown here

  1. ncbi request reprint Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder
    A Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Genoa, Italy
    AJNR Am J Neuroradiol 29:301-5. 2008
    ..We aimed to describe the neuroimaging features of this novel entity...
  2. doi request reprint New MR sequences (diffusion, perfusion, spectroscopy) in brain tumours
    Andrea Rossi
    Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Largo G Gaslini 5, Genova 16147, Italy
    Pediatr Radiol 40:999-1009. 2010
    ..The contribution of these methods to the characterization of brain neoplasms in children is the focus of the present manuscript...
  3. ncbi request reprint Neuroradiology of chemotherapeutic. Neurotoxicity in children
    A Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital Genoa, Italy
    Neuroradiol J 23:183-90. 2010
    ..Close interdisciplinary collaboration between hemato-oncologists and neuroradiologists is of paramount importance to provide affected children with an early diagnosis and proper treatment. ..
  4. doi request reprint Pediatric spinal infection and inflammation
    Andrea Rossi
    Department of Pediatric Neuroradiology, Istituto Giannina Gaslini, Via G Gaslini 5, Genova I 16147, Italy Electronic address
    Neuroimaging Clin N Am 25:173-91. 2015
    ..Inflammatory spinal cord diseases are more common than primitive spinal cord infection. ..
  5. doi request reprint Magnetic resonance spectroscopy in metabolic disorders
    Andrea Rossi
    Pediatric Neuroradiology Unit, Istituto Giannina Gaslini, Genoa 16147, Italy
    Neuroimaging Clin N Am 23:425-48. 2013
    ..The aim was to provide a focused representation of the most common applications of (1)H-MRS to metabolic disorders in a routine clinical setting. ..
  6. pmc Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients
    Marilena Briguglio
    Division of Child Neurology and Psychiatry, Dept of Medical and Surgical Pediatric Sciences, University of Messina, Messina, Italy
    Orphanet J Rare Dis 6:36. 2011
    ..These data indicate that PTCD may have a favourable long-term outcome, with borderline cognitive deficit or even normal cognition and partially preserved speech...
  7. ncbi request reprint Spinal dysraphism: MR imaging rationale
    A Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Genoa, Italy
    J Neuroradiol 31:3-24. 2004
    ..Magnetic resonance imaging is the imaging modality of choice for evaluation of this complex group of disorders...
  8. ncbi request reprint Prenatal MR imaging of dural sinus malformation: a case report
    Andrea Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Hospital, Genoa, Italy
    Prenat Diagn 26:11-6. 2006
    ..To describe prenatal magnetic resonance imaging (MRI) findings of dural sinus malformation (DSM), a very rare, congenital form of dural arteriovenous shunt (DAVS), typically affecting newborns...
  9. ncbi request reprint Spectrum of nonterminal myelocystoceles
    Andrea Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s, Research Hospital, Genoa, Italy
    Neurosurgery 58:509-15; discussion 509-15. 2006
    ..To present the magnetic resonance imaging features, clinical findings, and possible embryologic bases for nonterminal myelocystoceles, a distinct subset of closed spinal dysraphisms...
  10. ncbi request reprint Bilateral germinoma of the basal ganglia
    Andrea Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Hospital, Genoa, Italy
    Pediatr Blood Cancer 50:177-9. 2008
    ..We describe a case in which magnetic resonance spectroscopy (MRS) findings suggested a tumor and supported the decision to perform biopsy of the lesion...
  11. ncbi request reprint Neuroimaging of pediatric craniopharyngiomas: a pictorial essay
    Andrea Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Genoa, Italy
    J Pediatr Endocrinol Metab 19:299-319. 2006
    ....
  12. ncbi request reprint Current classification and imaging of congenital spinal abnormalities
    Andrea Rossi
    Department of Neuroradiology, G Gaslini Children s Research Hospital, Genova, Italy
    Semin Roentgenol 41:250-73. 2006
  13. ncbi request reprint Tumors of the spine in children
    Andrea Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Hospital, Largo G Gaslini 5, I 16147 Genoa, Italy
    Neuroimaging Clin N Am 17:17-35. 2007
    ..Magnetic resonance imaging provides crucial information regarding the extent, location, and internal structure of the mass, thus critically narrowing the differential diagnosis and guiding surgery...
  14. doi request reprint Imaging of acute disseminated encephalomyelitis
    Andrea Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Largo G Gaslini 5, I 16147 Genova, Italy
    Neuroimaging Clin N Am 18:149-61; ix. 2008
    ....
  15. doi request reprint Epilepsy associated with supratentorial brain tumors under 3 years of life
    Roberto Gaggero
    Department of Neurosciences, Gaslini Children s Hospital, Genoa, Italy
    Epilepsy Res 87:184-9. 2009
    ..To investigate the clinical features and outcome of epilepsy in children under 3 years of age with supratentorial brain tumors...
  16. doi request reprint EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement
    Roberta Biancheri
    Neuroscience Department, Istituto G Gaslini, Largo G Gaslini 5, 16147 Genoa, Italy
    J Neurol 260:1866-70. 2013
    ..These findings strongly suggest that analysis of the EXOSC3 gene should be recommended also in patients with spinal anterior horn involvement and isolated cerebellar hypoplasia...
  17. ncbi request reprint Cystic angiomatosis of the craniocervical junction associated with Chiari I malformation: case report and review of the literature
    Marco Pavanello
    Department of Neurosurgery, Giannina Gaslini Institute, Genoa, Italy
    Childs Nerv Syst 23:697-700. 2007
    ..We present a case report of a 4-year-old boy with cystic angiomatosis of the skull base and upper cervical spine associated with a Chiari I malformation and provide a review of the pertinent literature...
  18. doi request reprint Hypomyelination and congenital cataract: broadening the clinical phenotype
    Roberta Biancheri
    Department of Neuroscience, G Gaslini Institute, Genova, Italy
    Arch Neurol 68:1191-4. 2011
    ..To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin, encoded by FAM126A...
  19. pmc Diagnostic and prognostic value of 18F-DOPA PET and 1H-MR spectroscopy in pediatric supratentorial infiltrative gliomas: a comparative study
    Giovanni Morana
    Istituto Giannina Gaslini, Genova, Italy G M, p n, A C, A R, S M, C M, M L G, A R Nuclear Medicine Unit, Ospedali Galliera, Genova, Italy A P, M M Clinical Trial Unit, Scientific Directorate, Ospedali Galliera, Genova, Italy M P
    Neuro Oncol 17:1637-47. 2015
    ..The aim of this study was to compare diagnostic and prognostic information gathered by (18)F-DOPA PET and (1)H-MRS in children with supratentorial infiltrative gliomas or nonneoplastic brain lesions suspected to be gliomas...
  20. doi request reprint Value of 18F-3,4-dihydroxyphenylalanine PET/MR image fusion in pediatric supratentorial infiltrative astrocytomas: a prospective pilot study
    Giovanni Morana
    Unità Operativa di Neuroradiologia, Istituto G Gaslini, Genoa, Italy
    J Nucl Med 55:718-23. 2014
    ..The aim of this study was to investigate the diagnostic role, clinical contribution, and prognostic value of fused (18)F-3,4-dihydroxyphenylalanine ((18)F-DOPA) PET/MR images in pediatric supratentorial IAs...
  21. doi request reprint Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families
    Monica Traverso
    Department of Neuroscience, Istituto Giannina Gaslini, Genova, Italy
    Eur J Paediatr Neurol 17:108-11. 2013
    ....
  22. doi request reprint Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective
    Maria Luisa Garre
    Department of Scientific Direction, Epidemiology and Biostatistics Unit, University of Genoa, Genoa, Italy
    Clin Cancer Res 15:2463-71. 2009
    ....
  23. doi request reprint Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility
    Gaia Giribaldi
    Department of Neuroscience, Ophthalmology and Genetics, Child Neuropsychiatry Unit, G Gaslini Institute, and University of Genoa, Genoa, Italy
    Dev Med Child Neurol 54:472-6. 2012
    ....
  24. doi request reprint No major role for the EMX2 gene in schizencephaly
    Elisa Merello
    Department of Neurosurgery, Gaslini Institute, Genoa, Italy
    Am J Med Genet A 146:1142-50. 2008
    ..We conclude that the reported association between SCH and EMX2 mutations is not adequately supported by current data, and that diagnostic testing of EMX2 is not justified, as any results would be uninterpretable...
  25. doi request reprint Treatment and outcome of children with cerebral cavernomas: a survey on 32 patients
    Alessandro Consales
    Department of Neurosurgery, Gaslini Children s Hospital, Genoa, Italy
    Neurol Sci 31:117-23. 2010
    ..We confirm the high risk of macrohemorrhage in pediatric CCs. Surgery is mostly recommended in accessible cavernomas, except for small, asymptomatic deep-seated CCs or for punctuate lesions without bleeding signs...
  26. doi request reprint 18F-DOPA Uptake of Developmental Venous Anomalies in Children With Brain Tumors
    Giovanni Morana
    From the Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy Nuclear Medicine Department, Ospedali Galliera, Genoa, Italy and Neuro oncology Unit, Istituto Giannina Gaslini, Genoa, Italy
    Clin Nucl Med 41:e351-2. 2016
    ....
  27. doi request reprint Ability of (18)F-DOPA PET/CT and fused (18)F-DOPA PET/MRI to assess striatal involvement in paediatric glioma
    Giovanni Morana
    Neuroradiology Unit, Istituto Giannina Gaslini, Genova, Italy
    Eur J Nucl Med Mol Imaging 43:1664-72. 2016
    ..To assess the diagnostic performance of (18)F-DOPA PET/CT and fused (18)F-DOPA PET/MRI in detecting striatal involvement in children with gliomas...
  28. doi request reprint Incidental findings on routine brain MRI scans in preterm infants
    Mariya Malova
    Neonatal Intensive Care Unit, Istituto Giannina Gaslini, Genoa, Italy
    Arch Dis Child Fetal Neonatal Ed 102:F73-F78. 2017
    ..The aim of our study was to describe these incidental findings (IFs) in a VLBW population and to assess their clinical significance...
  29. doi request reprint Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva
    Mariasavina Severino
    Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy
    J Med Genet 53:859-864. 2016
    ..Evidence of central nervous system involvement has emerged only recently...
  30. doi request reprint Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction
    Mariasavina Severino
    Neuroradiology Unit, Istituto Giannina Gaslini, Via Gaslini 5, 16147, Genova, Italy
    Neuroradiology 58:33-44. 2016
    ..We aimed to describe the clinico-radiological findings of patients with disorders of diencephalic-mesencephalic junction (DMJ) formation and midbrain anteroposterior patterning...
  31. doi request reprint Natural history of cavernous malformations in children with brain tumors treated with radiotherapy and chemotherapy
    Angela Di Giannatale
    Neuro Oncology, Istituto Giannina Gaslini, Genova, Italy
    J Neurooncol 117:311-20. 2014
    ..Concomitant therapy with methotrexate seems to favor their development. We recommend observation for asymptomatic lesions, while surgery should be reserved to symptomatic growth or hemorrhage. ..
  32. doi request reprint Central diabetes insipidus in children and young adults: etiological diagnosis and long-term outcome of idiopathic cases
    Natascia Di Iorgi
    Department of Pediatrics N D I, A C, E C, N F, M V, M M, Istituto Giannina Gaslini, University of Genova, 16147 Genova, Italy and Department of Pediatrics A E M A, F N, Pediatric Neuroradiology A R, and Epidemiology, Biostatistics and Committee s Unit F B, R H, Istituto Giannina Gaslini, 16147 Genova, Italy
    J Clin Endocrinol Metab 99:1264-72. 2014
    ..Central diabetes insipidus (CDI) is considered idiopathic in 20% to 50% of affected subjects...
  33. ncbi request reprint Cerebellar medullomyoblastoma with melanotic tubular structures
    Paolo Nozza
    U O di Anatomia Patologica, Istituto Giannina Gaslini, Genova, Italia
    Pediatr Blood Cancer 50:183-5. 2008
    ..This case demonstrates the occurrence of this very rare tumor in early childhood as well as the utility of a careful search for the presence of myogenic and/or melanotic features in medulloblastomas...
  34. ncbi request reprint Severe epilepsy in X-linked creatine transporter defect (CRTR-D)
    Maria Margherita Mancardi
    Department of Child Neuropsychiatry, Epilepsy Unit, G Gaslini Institute, Genoa, Italy
    Epilepsia 48:1211-3. 2007
    ..After extensive investigations, metabolite analysis and brain 1H-MRS suggested CRTR-D, which was confirmed by the detection of a known pathogenic mutation in the SLC6A8 gene (c.1631C>T; p.Pro544Leu)...
  35. doi request reprint Epilepsia partialis continua in type 1 diabetes: evolution into epileptic encephalopathy with continuous spike-waves during slow sleep
    Maria Giuseppina Baglietto
    OU Child Neuropsychiatry, Department of Neuroscience, Giannina Gaslini Institute, Largo G Gaslini 5, 16100 Genoa, Italy
    Neurol Sci 30:509-12. 2009
    ..His epileptic disorder evolved over time into drug-resistant epilepsy with continuous spike-waves during slow sleep and severe behavioral impairment. The role of both metabolic imbalance and GAD autoimmunity is discussed...
  36. ncbi request reprint Imaging in spine and spinal cord malformations
    Andrea Rossi
    Department of Neuroradiology, G Gaslini Children s Research Hospital, Largo G Gaslini 5, I 16147 Genova, Italy
    Eur J Radiol 50:177-200. 2004
    ..Magnetic resonance imaging (MRI) is the preferred modality for imaging these complex abnormalities. The use of the aforementioned classification scheme is greatly helpful to make the diagnosis...
  37. ncbi request reprint Conservative surgical approach in treatment strategy of craniopharyngioma: experience at a single institution in Italy
    Armando Cama
    Neurosurgery Department, Giannina Gaslini Children s Research Hospital, Genova, Italy
    J Pediatr Endocrinol Metab 19:337-40. 2006
  38. ncbi request reprint Phenotypic characterization of hypomyelination and congenital cataract
    Roberta Biancheri
    Muscular and Neurodegenerative Disease Unit, G Gaslini Institute and University of Genova, Genova, Italy
    Ann Neurol 62:121-7. 2007
    ..3-p15.3...
  39. ncbi request reprint Crossed Pontine Hemiatrophy Associated with Unilateral Cerebellar Hemorrhage in Premature Infants
    Alessandro Parodi
    Neonatal Intensive Care Unit, Istituto Giannina Gaslini, Genoa, Italy
    Neuropediatrics 47:404-407. 2016
    ..b>Conclusion Crossed hemiatrophy of the pons was associated with massive unilateral cerebellar hemorrhage. This finding may reflect retrograde degeneration of pontocerebellar fibers and loss of neurons in contralateral hemipons...
  40. doi request reprint Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach?
    Marisol Mirabelli-Badenier
    Child Neuropsychiatry Unit, Department of Neurosciences and Rehabilitation, Istituto G Gaslini, Genoa, Italy
    Neuropediatrics 46:104-9. 2015
    ..These patterns can be related to different etiologies, and do not suggest specific diagnoses. Primary ION lesion can be characterized by olivary swelling, and the differentiation from typical secondary HOD may be difficult. ..
  41. doi request reprint Congenital segmental lymphedema in tuberous sclerosis complex with associated subependymal giant cell astrocytomas treated with Mammalian target of rapamycin inhibitors
    Giulia Prato
    Child Neuropsychiatry Unit, G Gaslini Institute, Genova, Italy
    J Child Neurol 29:NP54-7. 2014
    ..Because our patient did not show worsening of lymphedema, congenital lymphedema does not seem to be a contraindication for this therapy. ..
  42. doi request reprint Congenital multifocal rhabdoid tumor: a case with peculiar biological behavior and different response to treatment according to location (central nervous system and kidney)
    Luca Pio
    Universita degli Studi di Genova, Genova, Italy
    Cancer Genet 207:441-4. 2014
    ..We describe the case of an infant with multifocal rhabdoid tumor with different behavior and response to treatment, depending on the anatomic site. ..
  43. ncbi request reprint Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations
    Pasquale Striano
    Muscular and Neurodegenerative Disease Unit, Institute G Gaslini, University of Genoa, Genoa, Italy
    Epilepsy Behav 10:187-91. 2007
    ..Definition of the clinical spectrum of this condition will aid in its recognition and have implications for diagnosis and genetic counseling...
  44. doi request reprint Diabetes insipidus--diagnosis and management
    Natascia Di Iorgi
    Department of Pediatrics, IRCCS G Gaslini, University of Genoa, Largo Gerolamo Gaslini 5, Genoa, Italy
    Horm Res Paediatr 77:69-84. 2012
    ..MRI STIR (short-inversion-time inversion recovery sequencing) is a promising technology for the early identification of LCH-dependent CDI...
  45. pmc FZD6 is a novel gene for human neural tube defects
    Patrizia De Marco
    Neurosurgery Department, G Gaslini Institute, Genova, Italy
    Hum Mutat 33:384-90. 2012
    ..This study demonstrates that rare nonsynonymous variants in FZD6 may contribute to NTDs in humans and enlarges the spectrum of mutations that link PCP pathway to NTDs...
  46. pmc Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations
    Serena Grossi
    SSD Lab, Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G, Gaslini, Genova, Italy
    Orphanet J Rare Dis 6:40. 2011
    ..PLP1 mutations range from gene duplications of variable size found in 60-70% of patients to intragenic lesions present in 15-20% of patients...
  47. doi request reprint Anti-N-methyl-D-aspartate-receptor encephalitis in a four-year-old girl
    Roberta Biancheri
    Child Neurology and Psychiatry Unit, G Gaslini Institute and University of Genova, Largo G Gaslini 5, 16147 Genova, Italy
    J Pediatr 156:332-4. 2010
    ..Anti-N-methyl-D-aspartate-receptor encephalitis should be included in the differential diagnosis of acute/subacute encephalitis in children...
  48. doi request reprint Management of diabetes insipidus and adipsia in the child
    Natascia Di Iorgi
    Department of Pediatrics, Istituto Giannina Gaslini, University of Genova, Genova, Italy
    Best Pract Res Clin Endocrinol Metab 29:415-36. 2015
    ..This review summarizes the best practice and approach for the diagnosis and treatment of patients with CDI...
  49. doi request reprint New insights into central nervous system involvement in FOP: Case report and review of the literature
    Marta Bertamino
    Department of Medicine and Surgery, University of Genoa, Genoa, Italy
    Am J Med Genet A 167:2817-21. 2015
    ..Clinico-radiological course during 10 years of follow-up was consistent with a benign lesion, excluding an oncogenic role of ACVR1 mutations...
  50. doi request reprint Primary diffuse leptomeningeal gliomatosis in children: a clinical pathologic correlation
    Francesco P Bernardini
    Department of Ophthalmology, Ospedale Gaslini, Genova, Italy
    Ophthal Plast Reconstr Surg 29:93-7. 2013
    ..To describe a rare case of primary diffuse leptomeningeal gliomatosis (PDLG) presenting with progressive proptosis and direct involvement of the optic nerve sheath in a child and review of the relevant literature...
  51. doi request reprint Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion
    Roberta Biancheri
    Child Neurology and Psychiatry Unit, G Gaslini Pediatric Institute, Genova, Italy
    J Inherit Metab Dis 34:1225-7. 2011
    ....
  52. doi request reprint Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma
    Andrea Accogli
    Istituto Giannina Gaslini, Genova, Italy
    Birth Defects Res A Clin Mol Teratol 106:530-5. 2016
    ..However, an ectopic rib arising within the spinal lipoma and articulating with the iliac crest has not been reported in either animal models or in humans...
  53. doi request reprint Neuroimaging of Infectious and Inflammatory Diseases of the Pediatric Cerebellum and Brainstem
    Andrea Rossi
    Neuroradiology Unit, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, Genoa 16147, Italy Electronic address
    Neuroimaging Clin N Am 26:471-87. 2016
    ..Knowledge of the imaging features of these disorders and technical competence on pediatric MR imaging are necessary for a correct interpretation of findings, which in turn prompts further management. ..
  54. doi request reprint Different gestational ages and changing vulnerability of the premature brain
    Andrea Sannia
    a Neonatal Intensive Care Unit, Istituto Giannina Gaslini, Genova, Italy
    J Matern Fetal Neonatal Med 28:2268-72. 2015
    ....
  55. doi request reprint A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child
    Marisol Mirabelli-Badenier
    UO Neuropsichiatria Istituto Giannina Gaslini, Genoa, Italy
    Metab Brain Dis 30:681-6. 2015
    ..Conventional and advanced MRI sequences, including diffusion tensor imaging and tractography, were used for the assessment of white matter involvement in the patient...
  56. doi request reprint Urological outcome in patients with Currarino syndrome
    Luca Pio
    Istituto Giannina Gaslini, Genova, Italy DINOGMI, University of Genoa, Genova, Italy Electronic address
    J Pediatr Surg 49:1643-6. 2014
    ..Only few studies on small series report the incidence of urinary dysfunction in Currarino syndrome. Our aim was to evaluate the urological outcome in patients with Currarino syndrome...
  57. ncbi request reprint Cervico-medullary desmoplastic infantile ganglioglioma: an unusual case with diffuse leptomeningeal dissemination at diagnosis
    Claudia Milanaccio
    Dipartimento di Emato Oncologia, Istituto Giannina Gaslini, Genova, Italia
    Pediatr Blood Cancer 45:986-90. 2005
    ..The case we describe demonstrates that DIG can occur in the subtentorial region and can show leptomeningeal dissemination like other low-grade gliomas...
  58. ncbi request reprint Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings
    Andrea Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Largo G Gaslini 5, I 16147 Genoa, Italy
    AJNR Am J Neuroradiol 24:1188-91. 2003
    ..MR imaging pattern recognition can suggest an underlying COX deficiency and should prompt investigators to search for SURF1 gene mutations...
  59. doi request reprint Magnetic resonance imaging "tigroid pattern" in Alexander disease
    Roberta Biancheri
    Department of Neuroscience, Istituto G Gaslini, Genova, Italy
    Neuropediatrics 44:174-6. 2013
    ..This pattern has been previously described in only a few different neurologic conditions, including Pelizaeus-Merzbacher disease and some lysosomal disorders. This report expands the spectrum of MRI features in AD...
  60. doi request reprint Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: is it useful?
    Laura Bergamino
    Dipartimento di Scienze Pediatriche, Universita di Genova, IRCCS G Gaslini, Genova, Italy
    Brain Dev 34:384-91. 2012
    ..Further studies will be necessary to define the clinical, immunological and genetic aspects, as well as the outcome of immunomodulatory therapy in patients with ANE1...
  61. doi request reprint Focal leptomeningeal enhancement and corticopial calcifications underlying a parietal convexity lipoma: a rare association of findings in 2 pediatric epileptic patients
    Giovanni Morana
    Neuroradiology Operative Unit, G Gaslini Children s Research Hospital, Genova, Italy
    J Child Neurol 26:634-7. 2011
    ....
  62. ncbi request reprint A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency
    Claudio Bruno
    Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Istituto Giannina Gaslini, Italy
    J Child Neurol 17:233-6. 2002
    ....
  63. ncbi request reprint Epidural compression in neuroblastoma: Diagnostic and therapeutic aspects
    Bruno De Bernardi
    Department of Haematology Oncology, Giannina Gaslini Children s Hospital, Largo Gerolamo Gaslini, 5, 16148 Genova, Italy
    Cancer Lett 228:283-99. 2005
    ....
  64. ncbi request reprint A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation
    Maja Di Rocco
    II Pediatric Unit, Gaslini Institute, Largo Gaslini 5, 16147 Genoa, Italy
    Mol Genet Metab 89:395-7. 2006
    ..This case suggests that ethylmalonic aciduria is not a constant biochemical marker of ethylmalonic encephalopathy and that its normal excretion outside of metabolic decompensation episodes does not exclude this metabolic disease...
  65. ncbi request reprint Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
    Federico Zara
    Muscular and Neurodegenerative Disease Unit, G Gaslini Institute and University of Genova, Italy
    Nat Genet 38:1111-3. 2006
    ..We identified mutations in five affected families, resulting in a deficiency of hyccin, a newly identified 521-amino acid membrane protein. Our study highlights the essential role of hyccin in central and peripheral myelination...
  66. ncbi request reprint Deterioration of growth hormone (GH) response and anterior pituitary function in young adults with childhood-onset GH deficiency and ectopic posterior pituitary: a two-year prospective follow-up study
    Natascia Di Iorgi
    AssociateDepartment of Pediatrics Istituto di Ricovero e Cura a Carattere Scientifico G Gaslini, University of Genova, Largo Gerolamo Gaslini, 5, 16147 Genova, Italy
    J Clin Endocrinol Metab 92:3875-84. 2007
    ..The current criteria for definition of partial GHD in young adults are still a subject of debate...
  67. doi request reprint Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome
    Valeria Capra
    UO Neurochirurgia, Istituto G Gaslini, 16148 Genova, Italy
    Eur J Med Genet 52:17-22. 2009
    ..The unique range of clinical manifestations in these two patients and the negative findings of the molecular genetic screening suggest the hypothesis of a previously unrecognized syndrome...
  68. ncbi request reprint MRI in acute intermittent maple syrup urine disease
    M Di Rocco
    II Pediatria, Istituto Gaslini, Largo Gaslini 5, 16147 Genova, Italy
    Neurology 63:1078. 2004
  69. ncbi request reprint [Acute urinary retention in a child with acute disseminated encephalomyelitis]
    L Doria Lamba
    Unità Operativa di Neuropsichiatria Infantile Dipartimento di Neuroscienze, Oftalmologia e Genetica, Sezione di Neuroscienze dello Sviluppo, Istituto G Gaslini, Universita degli Studi di Genova, Genova, Italy
    Minerva Pediatr 58:305-9. 2006
    ..Another peculiar feature is the absence of associated neurologic symptomatology despite MRI evidence of important brain and spine alterations...
  70. ncbi request reprint [Neurologic emergency in children's hospital. Stroke]
    A Palmieri
    Unità Operativa di Medicina d Urgenza, Centro Regionale di Trombosi ed Emostasi, Istituto Giannina Gaslini IRCCS, Genova, Italia
    Minerva Pediatr 61:461-7. 2009
    ..The results may be related to the relative delay in diagnosis and thus in treatment. The authors hope that their paper will help make physicians who work in emergency rooms more aware of the increase in stroke in children...
  71. doi request reprint Pituitary tumors: advances in neuroimaging
    G Morana
    Department of Pediatric Neuroradiology, IRCCS G Gaslini, University of Genoa, Genoa, Italy
    Endocr Dev 17:160-74. 2010
    ..The aim of this work is to provide an overview of the most relevant neuroradiological features of pituitary region tumors and to propose an appropriate and accurate differential diagnosis...
  72. doi request reprint Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease
    G Morana
    Department of Neuroradiology, G Gaslini Children s Research Institute, Genoa, Italy
    Neuropediatrics 40:291-4. 2009
    ....
  73. doi request reprint Diagnostic Approach to Pediatric Spine Disorders
    Andrea Rossi
    Neuroradiology Unit, Istituto Giannina Gaslini, Via Gerolamo Gaslini, 5, Genova 16147, Italy Electronic address
    Magn Reson Imaging Clin N Am 24:621-44. 2016
    ..This article discusses the embryologic and developmental anatomy features of the spine and spinal cord, together with some technical points and pitfalls, and the most common indications for pediatric spinal MR imaging. ..
  74. doi request reprint Late Persistent Increased Putaminal 18F-DOPA Uptake Following Ipsilateral Frontal Resection: Evidence for Corticostriatal Synaptic Plasticity?
    Giovanni Morana
    From the Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy Nuclear Medicine Department, Ospedali Galliera, Genoa, Italy Neuro oncology Unit, Istituto Giannina Gaslini, Genoa, Italy and Clinical Neurology, Department of Neuroscience, Universita di Genova, Genoa, Italy
    Clin Nucl Med 40:e451-2. 2015
    ..In the setting of brain tumor surveillance, focal increased striatal F-DOPA uptake should be carefully interpreted in light of MRI findings and pathological changes related to corticostriatal connections. ..
  75. doi request reprint Accuracy of ultrasound in assessing cerebellar haemorrhages in very low birthweight babies
    Alessandro Parodi
    Neonatal Intensive Care Unit, Istituto Giannina Gaslini, Genoa, Italy
    Arch Dis Child Fetal Neonatal Ed 100:F289-92. 2015
    ..To assess diagnostic accuracy of cranial ultrasound (CUS) performed through the anterior fontanelle (AF) and mastoid fontanelle (MF) in detecting cerebellar haemorrhages (CBH) in very low birthweight (VLBW) infants...
  76. doi request reprint Spontaneously regressing leukoencephalopathy with bilateral temporal cysts in congenital rubella infection
    Mariasavina Severino
    From the Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel Child Neurology and Psychiatry Unit, Istituto Giannina Gaslini and Infectious Diseases Division, Istituto Giannina Gaslini, Genoa, Italy
    Pediatr Infect Dis J 33:422-4. 2014
    ....
  77. doi request reprint A case of neonatal human parechovirus encephalitis with a favourable outcome
    Salvatore Renna
    Emergency Department of Paediatrics, G Gaslini Children s Hospital, Genova, Italy
    Brain Dev 36:70-3. 2014
    ..We report a case of neonatal HPeV encephalitis, diagnosed on the basis of clinical and radiological findings and HPeV RT-PCR, with a good neurological outcome. ..
  78. doi request reprint The use of neuroimaging for assessing disorders of pituitary development
    Natascia Di Iorgi
    Department of Paediatrics, IRCCS G Gaslini, University of Genova, Genova, Italy
    Clin Endocrinol (Oxf) 76:161-76. 2012
    ..Going forward, neuroimaging techniques are expected to progressively expand and improve our knowledge and understanding of pituitary diseases...
  79. ncbi request reprint Genetic disorders affecting white matter in the pediatric age
    Maja Di Rocco
    Second Unit of Pediatrics, Istituto G Gaslini, Genova, Italy
    Am J Med Genet B Neuropsychiatr Genet 129:85-93. 2004
    ..A review of the genetic disorders affecting white matter in the pediatric age, including some novel entities, is provided...
  80. ncbi request reprint Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation
    Roberta Biancheri
    Muscular and Neurodegenerative Disease Unit, University of Genova, Istituto G Gaslini, Largo G Gaslini 5, Genova, Italy
    Eur J Paediatr Neurol 11:175-7. 2007
    ..The absence of the signal hyperintensity of the cerebellar cortex does not rule out the diagnosis of INAD...
  81. doi request reprint Magnetic resonance imaging in childhood leukemia survivors treated with cranial radiotherapy: a cross sectional, single center study
    Maura Faraci
    Hematology Oncology Department, G Gaslini Children s Research Institute, Genova, Italy
    Pediatr Blood Cancer 57:240-6. 2011
    ..The purpose of this report is to describe the spectrum of MRI abnormalities detected in a group of survivors of leukemia treated with cranial irradiation...
  82. doi request reprint Prognostic role of gender in diffuse large B-cell lymphoma treated with rituximab containing regimens: a Fondazione Italiana Linfomi/Grupo de Estudos em Moléstias Onco-Hematológicas retrospective study
    Angelo M Carella
    Division of Hematology 1, Azienda Ospedaliera Universitaria San Martino, Genova, Italy
    Leuk Lymphoma 54:53-7. 2013
    ..Based on these results, given possible differences in blood clearance of rituximab between males and females, the benefit of higher doses of rituximab in males should be explored...
  83. doi request reprint Neuroradiologic findings and follow-up with magnetic resonance imaging of the genetic forms of haemophagocytic lymphohistiocytosis with CNS involvement
    Ines Rego
    Neuroradiology Department, G Gaslini Children s Hospital, Genoa, Italy
    Pediatr Blood Cancer 58:810-4. 2012
    ..Neuroimaging was important in identifying CNS involvement, monitoring treatment responses, and detecting treatment complications...
  84. ncbi request reprint MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis
    Andrea Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Genoa, Italy
    AJNR Am J Neuroradiol 25:1046-8. 2004
    ..These MR imaging features suggest the diagnosis of HGPPS and correlate with the clinical findings. We hypothesize that maldevelopment of dorsomedial brain-stem structures plays a crucial role in the pathogenesis of HGPPS...
  85. ncbi request reprint Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome
    Tiziana Bachetti
    Laboratory of Molecular Genetics, Giannina Gaslini Institute, Genoa, Italy
    Am J Respir Crit Care Med 174:706-9. 2006
    ....
  86. doi request reprint Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome
    Anwar Baban
    Laboratory of Molecular Genetics, G Gaslini Hospital, Genova, Italy
    Am J Med Genet A 146:384-8. 2008
  87. doi request reprint Office spirometry can improve the diagnosis of obstructive airway disease in primary care setting
    Gabriella Averame
    MedicaLink s r l, Genova, Italy
    Respir Med 103:866-72. 2009
    ..The hypothesis of this study was that telespirometry might increase the diagnostic accuracy of asthma and COPD...
  88. doi request reprint Congenital tumors of the central nervous system
    Mariasavina Severino
    Department of Neuroradiology, G Gaslini Children s Hospital, Genoa, Italy
    Neuroradiology 52:531-48. 2010
    ..However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors, where aggressive surgical treatment leads to disease-free survival...
  89. ncbi request reprint Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association
    G Caridi
    Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini, Genova, Italy
    Kidney Int 70:1342-7. 2006
    ..Prevalence of such association may justify systematic neurological and neuroradiological evaluation...
  90. ncbi request reprint Cerebrovascular disease and varicella in children
    Giuseppe Losurdo
    Infectious Diseases Unit, G Gaslini Children s Hospital, Largo G Gaslini 5, 16147 Genoa, Italy
    Brain Dev 28:366-70. 2006
    ..On the basis of our experience and of literature data on varicella-associated stroke, we recommend that VZV infection be taken into account in every episode of stroke in children...
  91. pmc Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems
    Valeria Capra
    Laboratorio di Citogenetica, Istituto G, Gaslini, Genova, Italy
    BMC Med Genet 13:93. 2012
    ..abstract:..
  92. ncbi request reprint Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features
    Roberta Biancheri
    III Division of Paediatrics, G Gaslini Institute, Genova, Italy
    Epilepsia 43:616-22. 2002
    ..To describe epilepsy and EEG findings in the early-onset cobalamin (Cbl) C/D deficiency, an inborn error of intracellular Cbl metabolism characterized by high plasma levels of methylmalonic acid, homocystine, and homocysteine...
  93. doi request reprint Skull base osteomyelitis and potential cerebrovascular complications in children
    Mariasavina Severino
    Neuroradiology Department, G Gaslini Children s Hospital, Largo G Gaslini 5, 16147, Genoa, Italy
    Pediatr Radiol 42:867-74. 2012
    ..The purpose of this pictorial essay is to illustrate the spectrum of imaging findings and potential complications of skul base osteomyelitis...
  94. ncbi request reprint Multimodality imaging of Hodgkin disease and non-Hodgkin lymphomas in children
    Paolo Toma
    Department of Radiology, Giannina Gaslini Children s Hospital, Largo Gaslini 5, Genoa, Italy
    Radiographics 27:1335-54. 2007
    ..Familiarity with the spectrum of imaging findings in lymphomas is essential for radiologists to enable them to provide guidance for the treating physicians...
  95. pmc Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease
    Barbara Tappino
    S S D Lab Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G Gaslini, Genova, Italy
    Hum Mutat 31:E1894-914. 2010
    ..This is due in part to a GALC missense substitution (p.G553R) that occurs at high frequency on a common founder haplotype background in patients originating from the Naples region...
  96. ncbi request reprint Spinal dysraphism: a review of neuroradiological features with embryological correlations and proposal for a new classification
    P Tortori-Donati
    Department of Paediatric Neuroradiology, G Gaslini Children s Research Hospital, Genova, Italy
    Neuroradiology 42:471-91. 2000
    ..Our suggested classification is easy to use and to remember and takes into account clinical and MRI features; we have found it useful and reliable when making a preoperative neuroradiological diagnosis in clinical practice...
  97. ncbi request reprint Posterior fossa and arterial abnormalities in patients with facial capillary haemangioma: presumed incomplete phenotypic expression of PHACES syndrome
    A Rossi
    Department of Paediatric Neuroradiology, G Gaslini Children s Research Hospital, Genoa, Italy
    Neuroradiology 43:934-40. 2001
    ..A causal teratogenic influence, possibly related to anomalous expression of vascular growth factors and their modulators, is suggested to occur between gestational weeks 3 and 5.5..
  98. doi request reprint Developmental abnormalities of the posterior pituitary gland
    Natascia Di Iorgi
    Department of Pediatrics, Gaslini Institute, University of Genova, Genova, Italy
    Endocr Dev 14:83-94. 2009
    ....
  99. ncbi request reprint Intracranial contrast-enhancing masses in infants with capillary haemangioma of the head and neck: intracranial capillary haemangioma?
    P Tortori-Donati
    Department of Pediatric Neuroradiology, Children s Hospital and Scientific Institute Giannina Gaslini, Genoa, Italy
    Neuroradiology 41:369-75. 1999
    ..As extracranial CH are known to regress spontaneously in the majority of cases, a conservative approach is recommended also for presumed intracranial CH; surgery should be avoided unless follow-up studies demonstrate growth...
  100. ncbi request reprint Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings
    A Rossi
    Department of Pediatric Neuroradiology, G. Gaslini Children's Research Hospital, Genoa, Italy
    AJNR Am J Neuroradiol 22:554-63. 2001
    ..Hydrocephalus may result from diffuse intracranial extracerebral arterial stiffness, known as reduced arterial pulsation hydrocephalus. MR imaging features at presentation and at follow-up are nonspecific...
  101. ncbi request reprint Magnetic resonance imaging of spinal dysraphism
    P Tortori-Donati
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Genova, Italy
    Top Magn Reson Imaging 12:375-409. 2001
    ..Magnetic resonance imaging is the imaging method of choice for investigation of this complex group of disorders...