18 results on '"Federica Mazio"'
Search Results
2. Default-Mode Network Connectivity Changes Correlate with Attention Deficits in ALL Long-Term Survivors Treated with Radio- and/or Chemotherapy
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Federica Mazio, Giuseppina Aloj, Grazia Maria Giovanna Pastorino, Teresa Perillo, Carmela Russo, Maria Pia Riccio, Eugenio Maria Covelli, Rosanna Parasole, Enrico Tedeschi, Lorenzo Ugga, Alessandra D’Amico, and Mario Quarantelli
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long-term survivors ,acute lymphoblastic leukemia ,MRI ,brain ,resting-state fMRI ,default-mode network ,Biology (General) ,QH301-705.5 - Abstract
Whether chemotherapy (ChT) and radiotherapy (RT) determine neurocognitive impairment in acute lymphoblastic leukemia long-term survivors (ALL LTSs) through similar mechanisms affecting the same brain regions is still unknown. We compared neurocognitive alterations, regional brain tissue volumes (by voxel-based morphometry), and functional connectivity of the main default-mode network hubs (by seed-based analysis of resting state functional MRI data), in 13 ALL LTSs treated with RT and ChT (Group A) and 13 treated with ChT only (Group B). Group A performed significantly worse than Group B at the digit span and digit symbol tests (p = 0.023 and 0.013, respectively). Increased connectivity between the medial prefrontal cortex (the main anterior hub of the default-mode network) and the rolandic operculi was present in Group A compared to Group B, along with the absence of significant differences in regional brain tissue volumes. In these regions, the functional connectivity correlated inversely with the speed of processing scores, independent of treatment group. These results suggest that similar mechanisms may be involved in the neurocognitive deficits in ALL LTS patients, regardless of the treatment group. Further studies are needed to clarify whether these changes represent a direct expression of the mechanisms underlying the cognitive deficits or ineffective compensatory phenomena.
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- 2022
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3. Medullary unidentified bright objects in Neurofibromatosis type 1: a case series
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Alessandra D’Amico, Federica Mazio, Lorenzo Ugga, Renato Cuocolo, Mario Cirillo, Claudia Santoro, Silverio Perrotta, Daniela Melis, and Arturo Brunetti
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Neurofibromatosis I ,Unidentified bright objects ,Spine ,Magnetic resonance imaging ,T2-hyperintense lesions ,Pediatrics ,RJ1-570 - Abstract
Abstract Background In Neurofibromatosis type 1, cerebral Unidentified Bright Objects are a well-known benign entity that has been extensively reported in the literature. In our case series, we wish to focus on a further possible location of such lesions, the spinal cord, which we have defined as medullary Unidentified Bright Objects. These have been, to our knowledge, scarcely described in previous works. Case presentation We report the cases of 7 patients with medullary Unidentified Bright Objects in Neurofibromatosis type 1 that we have followed for up to 9 years in our Regional Referral Center for Neurofibromatosis. In all of our patients, these lesions were completely asymptomatic and reported on Magnetic Resonance exams the patients underwent for other clinical indications. Conclusions The aim of our work is to increase awareness of the possibility of medullary Unidentified Bright Objects in Neurofibromatosis type 1 patients, which can simulate neoplastic lesions, suggesting a more conservative approach in these cases.
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- 2018
- Full Text
- View/download PDF
4. Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications
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Camilla Russo, Carmela Russo, Daniele Cascone, Federica Mazio, Claudia Santoro, Eugenio Maria Covelli, and Giuseppe Cinalli
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phakomatosis ,neurofibromatosis type 1 ,central nervous system ,SPINE ,computed tomography ,magnetic resonance imaging ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Neurofibromatosis type 1 (NF1), the most frequent phakomatosis and one of the most common inherited tumor predisposition syndromes, is characterized by several manifestations that pervasively involve central and peripheral nervous system structures. The disorder is due to mutations in the NF1 gene, which encodes for the ubiquitous tumor suppressor protein neurofibromin; neurofibromin is highly expressed in neural crest derived tissues, where it plays a crucial role in regulating cell proliferation, differentiation, and structural organization. This review article aims to provide an overview on NF1 non-neoplastic manifestations of neuroradiological interest, involving both the central nervous system and spine. We also briefly review the most recent MRI functional findings in NF1.
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- 2021
- Full Text
- View/download PDF
5. Dural venous sinus anatomy in children with external hydrocephalus: analysis of a series of 97 patients
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Eugenio Maria Covelli, Ferdinando Aliberti, Giuliana Di Martino, Anna Nastro, Claudio Ruggiero, Giuseppe Cinalli, Pietro Spennato, Daniele Cascone, Federica Mazio, Carmela Russo, and Giuseppe Mirone
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Male ,Transverse sinuses ,Transverse sinus ,Cranial Sinuses ,otorhinolaryngologic diseases ,medicine ,Humans ,External hydrocephalus ,Postural plagiocephaly ,Child ,Children ,Sinus (anatomy) ,Retrospective Studies ,Sigmoid sinus ,Venous hypertension ,business.industry ,Infant ,Positional plagiocephaly ,Phlebography ,General Medicine ,Anatomy ,medicine.disease ,Stenosis ,medicine.anatomical_structure ,Agenesis ,Pediatrics, Perinatology and Child Health ,Dural venous sinuses ,Original Article ,Female ,Neurology (clinical) ,Subarachnoid space ,business ,Magnetic Resonance Angiography ,Macrocrania ,Venous obstruction grading score ,Hydrocephalus - Abstract
PurposeTo evaluate the anatomical variations of dural venous sinuses in children with external hydrocephalus, proposing a radiological grading of progressive anatomic restriction to venous outflow based on brain phase-contrast magnetic resonance venography (PC-MRV); to evaluate the correlation between positional plagiocephaly and dural sinuses patency; and to compare these findings with a control group to ascertain the role of anatomical restriction to venous outflow in the pathophysiology of external hydrocephalus.MethodsBrain MRI and PC MRV were performed in 97 children (76 males, 21 females) diagnosed with external hydrocephalus at an average age of 8.22 months. Reduction of patency of the dural sinuses was graded as 1 (stenosis), 2 (complete stop) and 3 (complete agenesis) for each transverse/sigmoid sinus and sagittal sinus. Anatomical restriction was graded for each patient from 0 (symmetric anatomy of patent dural sinuses) through 6 (bilateral agenesis of both transverse sinuses). Ventricular and subarachnoid spaces were measured above the intercommissural plane using segmentation software. Positional plagiocephaly (PP) and/or asymmetric tentorial insertion (ATI) was correlated with the presence and grading of venous sinus obstruction. These results were compared with a retrospective control group of 75 patients (35 males, 40 females).ResultsBoth the rate (84.53% vs 25.33%) and the grading (mean 2.59 vs mean 0.45) of anomalies of dural sinuses were significantly higher in case group than in control group. In the case group, sinus anomalies were asymmetric in 59 cases (right-left ratio 1/1) and symmetric in 22. A significant association was detected between the grading of venous drainage alterations and diagnosis of disease and between the severity of vascular anomalies and the widening of subarachnoid space (SAS). Postural plagiocephaly (39.1% vs 21.3%) and asymmetric tentorial insertion (35.4% vs 17.3%) were significantly more frequent in the case group than in the control group. When sinus anomalies occurred in plagiocephalic children, the obstruction grading was significantly higher on the flattened side (p ≤ 0.001).ConclusionDecreased patency of the dural sinuses and consequent increased venous outflow resistance may play a role in the pathophysiology of external hydrocephalus in the first 3 years of life. In plagiocephalic children, calvarial flattening may impact on the homolateral dural sinus patency, with a possible effect on the anatomy of dural sinuses and venous drainage in the first months of life.
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- 2021
6. Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome
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Roberta Milone, Tommaso Verdolotti, Orazio Genovese, Roberta Scalise, Roberta Battini, Eugenio Mercuri, Serenella Servidei, Giorgia Olivieri, Guido Primiano, and Federica Mazio
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Treatable epilepsy ,Pediatrics ,medicine.medical_specialty ,Gene mutation ,Multiple sclerosis ,03 medical and health sciences ,Myelopathy ,Settore MED/39 - NEUROPSICHIATRIA INFANTILE ,0302 clinical medicine ,Developmental Neuroscience ,Biotinidase defect ,Childhood-onset ,Demyelinating spinal cord ,Medicine ,Psychomotor retardation ,business.industry ,Biotinidase deficiency ,General Medicine ,medicine.disease ,Hypotonia ,Oxygen tension ,Settore MED/26 - NEUROLOGIA ,Pediatrics, Perinatology and Child Health ,Biotinidase ,Neurology (clinical) ,medicine.symptom ,business ,Multiple carboxylase deficiency ,030217 neurology & neurosurgery - Abstract
Background Biotinidase deficiency (BTD) is an autosomal recessive inborn error of metabolism provoking progressive biotin depletion, which causes, in turn, multiple carboxylase deficiency. Its infantile onset is characterized by intractable seizures associated with lethargy, psychomotor regression, hypotonia, feeding and respiratory problems, and cutaneous abnormalities. Case description We describe a 52-month-old female whose clinical and neuroradiological pictures were consistent with myelopathy, which is generally more frequent in older patients, as well as with symptoms of an infantile onset of biotinidase deficiency, revealed at 17 months. Results A biochemical biotinidase test revealed a profound deficiency of biotinidase detecting a 10% residual enzymatic activity, which led to the diagnosis of BTD. Gene sequencing revealed a compound heterozigous mutation (c.454A > C/c.1612C > T). Conclusion Our findings suggest that even if myelopathy is uncommonly reported in BTD, and generally occurs in older children, its presence in childhood-onset floppiness should always be considered as a possible marker for an atypical presentation of BTD. Although, until recently, BTD myelopathy was believed to be prevalent in older children, a spinal cord involvement has also been described in at least nine cases in early infancy. Thus, another early diagnosis suggests that myelopathy may be more frequent than previously thought, and it is probably underdiagnosed because spinal MRI is not always routinely performed on these children. Early recognition of BTD disease is important as it would lead to prompt treatment, preventing irreversible brain damage and increasing the chances of complete recovery.
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- 2020
7. Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder
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Nicola Brunetti-Pierri, Gerarda Cappuccio, Vincenzo Nigro, Alfonso Romano, Alessandra D'Amico, Simona Fecarotta, Marianna Alagia, Giorgio Casari, Annalaura Torella, Tudp, Federica Mazio, Alagia, Marianna, Cappuccio, Gerarda, Torella, Annalaura, D'Amico, Alessandra, Mazio, Federica, Romano, Alfonso, Fecarotta, Simona, Casari, Giorgio, Nigro, Vincenzo, Brunetti-Pierri, Nicola, Alagia, M., Cappuccio, G., Torella, A., D'Amico, A., Mazio, F., Romano, A., Fecarotta, S., Casari, G., Nigro, V., and Brunetti-Pierri, N.
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Pathology ,medicine.medical_specialty ,leukodystrophy ,lcsh:RC648-665 ,lcsh:QH426-470 ,business.industry ,Endocrinology, Diabetes and Metabolism ,Mitochondrial disease ,Leukodystrophy ,Case Report ,Case Reports ,medicine.disease ,mitochondrial ,Biochemistry, Genetics and Molecular Biology (miscellaneous) ,lcsh:Diseases of the endocrine glands. Clinical endocrinology ,Leukoencephalopathy ,lcsh:Genetics ,NDUFA2 ,Internal Medicine ,medicine ,Related disorder ,business - Abstract
Biallelic variants in nuclear gene NDUFA2 have been reported so far in only three children with variable presentations including Leigh syndrome or leukoencephalopathy. Herein, we report a further female child affected by NDUFA2‐related disorder presenting with cavitating and tigroid‐like pattern of leukodystrophy and without systemic biochemical abnormalities of mitochondrial disorders.
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- 2020
8. Fully Automated Measurement of Intracranial CSF and Brain Parenchyma Volumes in Pediatric Hydrocephalus by Segmentation of Clinical MRI Studies
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Carmela Russo, Maria Agnese Pirozzi, Federica Mazio, Daniele Cascone, Domenico Cicala, Maria De Liso, Anna Nastro, Eugenio Maria Covelli, Giuseppe Cinalli, and Mario Quarantelli
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History ,Polymers and Plastics ,General Medicine ,Business and International Management ,Industrial and Manufacturing Engineering - Published
- 2022
9. Subtemporal Transtentorial Approach in Mesencephalic and Perimesencephalic Lesions in Children—A Series of 20 Patients
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Carmela Chiaramonte, Giuseppe Mirone, Pietro Spennato, Federica Mazio, Carmela Russo, Giuliana Di Martino, Giuseppe Cinalli, Raffaele Stefano Parlato, and Nicola Onorini
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medicine.medical_specialty ,business.industry ,medicine.disease ,Neurosurgical Procedures ,Craniopharyngioma ,Superior cerebellar peduncle ,medicine.anatomical_structure ,Hemiparesis ,Dermoid cyst ,Mesencephalon ,Cerebellar peduncle ,Trigeminal neuralgia ,Cerebellum ,medicine ,Humans ,Surgery ,Postoperative Period ,Neurology (clinical) ,Radiology ,Neurosurgery ,medicine.symptom ,Child ,Strabismus ,business ,Retrospective Studies - Abstract
Background Midbrain and surrounding areas are among the most difficult regions to surgically approach in neurosurgery. The subtemporal approach is a well-known neurosurgical approach that is rarely described in children. Objective To assess the feasibility, advantages, and disadvantages of subtemporal approach in children. Methods A total of 20 pediatric patients with intra-axial tumors involving the lateral midbrain or superior cerebellar peduncle or with extra-axial tumors in the middle incisural space/Meckel cave underwent subtemporal transtentorial approaches with the aim to remove (16 cases) or biopsy (4 cases) their lesions. These cases were retrospectively reviewed and the surgical approach described. Results Total resection was achieved in 11 patients. In the 4 patients who underwent biopsies, a diagnosis was obtained. A total of 5 patients presented non-neoplastic lesions (dermoid tumors or cavernomas). A total of 9 patients harbored low-grade tumors and 6 high-grade tumors. Patients with low-grade tumors and non-neoplastic lesions are all alive with no evidence of disease or stable residue. Four patients affected by high grade tumors died. No patient suffered permanent neurological deficits related to the surgical approach. Three patients presented temporary neurological deficits following the procedure: one case of strabismus, one case of aphasia and hemiparesis, secondary to delayed, transient thrombosis of the Labbe vein, and 1 case of trigeminal neuralgia. Conclusion The subtemporal approach represents a feasible approach for mesencephalic and perimesencephalic lesions in children. It provides an ample and direct access, with excellent outcomes and acceptable postoperative morbidity.
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- 2019
10. Interhypothalamic Adhesion as Cause of Aborted Third Ventriculostomy: Neuroradiologic and Neuroendoscopic Considerations in Pediatric Case
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Carmela Russo, Anna Nastro, Giuseppe Cinalli, Federica Mazio, Pietro Spennato, and Giuseppe Mirone
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medicine.medical_specialty ,Third ventricle ,medicine.diagnostic_test ,business.industry ,Endoscopic third ventriculostomy ,Magnetic resonance imaging ,Ventricular system ,medicine.disease ,Hydrocephalus ,Endoscopy ,body regions ,03 medical and health sciences ,0302 clinical medicine ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,medicine ,Surgery ,Neurology (clinical) ,Radiology ,Neurosurgery ,Supraventricular tachycardia ,business ,030217 neurology & neurosurgery - Abstract
Background Interhypothalamic adhesions (IHAs) are horizontally oriented parenchymal bands of tissue connecting the medial hypothalamic regions across the third ventricle. They can be assessed with high-resolution magnetic resonance (MR) techniques. Case Description We report MR and neuroendoscopic features of IHA in a 3-year-old boy without symptoms referable to the hypothalamus. He presented with obstructive hydrocephalus secondary to posterior fossa tumor. An endoscopic third ventriculostomy (ETV) was attempted but not performed because of the presence of a thick IHA, which prevented an approach to the floor of the third ventricle. During the procedure the patient also experienced supraventricular tachycardia. The procedure was aborted, and an external ventricular drainage was left in the ventricles until resolution of hydrocephalus after posterior fossa surgery. To the best of our knowledge, no study has previously described in detail endoscopic images of IHA. Conclusions MR imaging allows one to preoperatively identify most anatomic anomalies of the ventricular system and the floor of the third ventricle. However, an IHA that may prevent an approach to the floor of the third ventricle due to his thickness may be missed. This can be recognized only on direct vision, underlining the importance of endoscopy in neurosurgery.
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- 2019
11. Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications
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Carmela Russo, Daniele Cascone, Camilla Russo, Eugenio Maria Covelli, Federica Mazio, Giuseppe Cinalli, Claudia Santoro, Russo, C., Cascone, D., Mazio, F., Santoro, C., Covelli, E. M., and Cinalli, G.
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Cancer Research ,congenital, hereditary, and neonatal diseases and abnormalities ,Central nervous system ,Review ,neurofibromatosis type 1 ,lcsh:RC254-282 ,03 medical and health sciences ,0302 clinical medicine ,Phakomatosis ,medicine ,Phakomatosi ,magnetic resonance imaging ,Neurofibromatosis ,Structural organization ,phakomatosis ,biology ,business.industry ,Neural crest ,computed tomography ,medicine.disease ,central nervous system ,lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Neurofibromin 1 ,Review article ,nervous system diseases ,medicine.anatomical_structure ,Oncology ,030220 oncology & carcinogenesis ,Peripheral nervous system ,biology.protein ,business ,Neuroscience ,030217 neurology & neurosurgery ,SPINE - Abstract
Simple Summary Central nervous system involvement (CNS) is a common finding in Neurofibromatosis type 1 (NF1). Beside tumor-related manifestations, NF1 is also characterized by a wide spectrum of CNS alterations with variable impacts on functioning and life quality. Here, we propose an overview of non-oncological neuroradiological findings in NF1, with an insight on pathophysiological and embryological clues for a better understanding of the development of these specific alterations. Abstract Neurofibromatosis type 1 (NF1), the most frequent phakomatosis and one of the most common inherited tumor predisposition syndromes, is characterized by several manifestations that pervasively involve central and peripheral nervous system structures. The disorder is due to mutations in the NF1 gene, which encodes for the ubiquitous tumor suppressor protein neurofibromin; neurofibromin is highly expressed in neural crest derived tissues, where it plays a crucial role in regulating cell proliferation, differentiation, and structural organization. This review article aims to provide an overview on NF1 non-neoplastic manifestations of neuroradiological interest, involving both the central nervous system and spine. We also briefly review the most recent MRI functional findings in NF1.
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- 2021
12. Desmoplastic infantile astrocytoma and ganglioglioma: a series of 12 patients treated at a single institution
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Pietro Spennato, Federica Mazio, Onur Ozgural, Lucia Quaglietta, Maria Elena Errico, Giuseppe Cinalli, Alessia Imperato, and Esperanza Arcas
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medicine.medical_specialty ,medicine.medical_treatment ,Astrocytoma ,Ganglioglioma ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,Biopsy ,medicine ,Humans ,Retrospective Studies ,Chemotherapy ,medicine.diagnostic_test ,Brain Neoplasms ,business.industry ,Infant, Newborn ,Infant ,General Medicine ,Prognosis ,medicine.disease ,Magnetic Resonance Imaging ,Surgery ,Hydrocephalus ,Radiation therapy ,030220 oncology & carcinogenesis ,Pediatrics, Perinatology and Child Health ,Neurology (clinical) ,Neurosurgery ,business ,030217 neurology & neurosurgery ,Progressive disease - Abstract
Desmoplastic infantile astrocytomas and gangliogliomas (DIA/DIG) usually present with a large size, large cystic component, large dural implant, encasement of big vessels, clinical presentation within 18 months of life, high incidence of seizures and overall good prognosis, even if tumour surgery can be very challenging at first procedure. We retrospectively reviewed clinical and radiological data of patients diagnosed with desmoplastic infantile tumours who were surgically treated between 2008 and 2019. The series included 12 patients. The median age at surgery was 91 days. The average tumour volume was 212 cm3. Cystic components were predominant ranging from 0 to 295 cm3. Active hydrocephalus was pre-operatively evident in 5 cases. Eight patients (66.6%) received total or subtotal removal, three of them (25%) underwent partial removal, and one patient (8.3%) received a biopsy. One patient died within 24 h after surgery due to severe hypotension, as a consequence of significant intraoperative blood loss. Overall, seven (58.3%) patients were reoperated on the tumour after the first procedure: 4 patients were operated twice; 3 patients were operated 3 times. Two patients presented remote localizations and underwent chemotherapy. At last follow-up, 7 patients were tumour-free, 2 are alive with stable disease, and 2 are alive with progressive disease (leptomeningeal seeding). Desmoplastic infantile tumours are rare giant neonatal tumours. Total removal is the goal of treatment, but prognosis remains good even if total removal is not achieved. In case of tumour progression or epilepsy from residual tumour, reoperation is the first option, with chemotherapy reserved to unresectable or disseminated cases with mixed results, while, to date, radiotherapy still plays no role.
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- 2021
13. Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease
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Maria Fulvia de Leva, Federica Mazio, Alfonso Rubino, Filippo M. Santorelli, Antonio Varone, Lucia Ruggiero, Giorgia Bruno, Rubino, A., Bruno, G., Mazio, F., De Leva, M. F., Ruggiero, L., Santorelli, F. M., and Varone, A.
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inherited peripheral neuropathy ,Pathology ,medicine.medical_specialty ,Nerve root ,Adolescent ,Mitochondrial disease ,Mitochondrial Proteins ,Neuroimaging ,Charcot-Marie-Tooth Disease ,SURF1 ,Medicine ,Humans ,Child ,medicine.diagnostic_test ,business.industry ,Mitochondrial respiratory chain complex IV ,Membrane Proteins ,Magnetic resonance imaging ,spine MRI ,General Medicine ,Neurophysiology ,medicine.disease ,Magnetic Resonance Imaging ,Leigh syndrome ,mitochondrial disease ,medicine.anatomical_structure ,Peripheral nervous system ,Pediatrics, Perinatology and Child Health ,Mutation ,Neurology (clinical) ,Leigh Disease ,business ,Spinal Nerve Roots - Abstract
Variants in SURF1, encoding an assembly factor of mitochondrial respiratory chain complex IV, cause Leigh syndrome (LS) and Charcot-Marie-Tooth type 4K in children and young adolescents. Magnetic resonance imaging (MRI) appearance of enlarged nerve roots with postcontrastographic enhancement is a distinctive feature of hypertrophic neuropathy caused by onion-bulb formation and it has rarely been described in mitochondrial diseases (MDs). Spinal nerve roots abnormalities on MRI are novel findings in LS associated with variants in SURF1. Here we report detailed neuroradiological and neurophysiologic findings in a child with LS and demyelinating neuropathy SURF1-related. Our case underlines the potential contributive role of spinal neuroimaging together with neurophysiological examination to identify the full spectrum of patterns in MDs. It remains to elucidate if these observations remain peculiar of SURF1 variants or potentially detectable in other MDs with peripheral nervous system involvement.
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- 2021
14. Early and Late Sequelae: Early Complications-Intralesional Hemorrhage After Biopsy
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Ferdinando Caranci, Federica Mazio, Anna Nastro, Carmela Russo, Domenico Cicala, Sossio Cirillo, Cicala, Domenico, Caranci, Ferdinando, Russo, Carmela, Nastro, Anna, Mazio, Federica, and Cirillo, Sossio
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Radiation therapy ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,medicine.medical_treatment ,Biopsy ,Medicine ,Radiology ,Glial tumor ,business - Abstract
7-year-old patient with surgically treated right frontal high-grade glial tumor. Evolution of postsurgical area. MR follow-up after surgery and radiation therapy.
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- 2020
15. Radiological Assessment Before and After Endoscopic Third Ventriculostomy
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Maria Consiglio Buonocore, Carmela Russo, Anna Nastro, Giuseppe Cinalli, Federica Mazio, and Domenico Cicala
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medicine.medical_specialty ,business.industry ,Radiological weapon ,medicine ,Endoscopic third ventriculostomy ,Radiology ,business - Published
- 2019
16. Medullary unidentified bright objects in Neurofibromatosis type 1: a case series
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Daniela Melis, Silverio Perrotta, Renato Cuocolo, Alessandra D'Amico, Federica Mazio, Arturo Brunetti, Lorenzo Ugga, Claudia Santoro, Mario Cirillo, D'Amico, Alessandra, Mazio, Federica, Ugga, Lorenzo, Cuocolo, Renato, Cirillo, Mario, Santoro, Claudia, Perrotta, Silverio, Melis, Daniela, and Brunetti, Arturo
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Adult ,Male ,medicine.medical_specialty ,Neurofibromatosis 1 ,Adolescent ,genetic structures ,Medullary cavity ,Unidentified bright object ,Radiography ,Case Report ,Thoracic Vertebrae ,Follow-Up Studie ,030218 nuclear medicine & medical imaging ,Diagnosis, Differential ,03 medical and health sciences ,Magnetic resonance imaging ,0302 clinical medicine ,Incidental Finding ,Humans ,Medicine ,Primary Hypertrophic Osteoarthropathy ,Neurofibromatosis ,Child ,T2-hyperintense lesions ,Incidental Findings ,medicine.diagnostic_test ,business.industry ,lcsh:RJ1-570 ,lcsh:Pediatrics ,Amino acid substitution ,T2-hyperintense lesion ,Spinal cord ,medicine.disease ,Spine ,medicine.anatomical_structure ,Spinal Cord ,Unidentified bright objects ,Pediatrics, Perinatology and Child Health ,Cervical Vertebrae ,Referral center ,Female ,Neurofibromatosis I ,Radiology ,business ,030217 neurology & neurosurgery ,Human ,Follow-Up Studies - Abstract
Background: In Neurofibromatosis type 1, cerebral Unidentified Bright Objects are a well-known benign entity that has been extensively reported in the literature. In our case series, we wish to focus on a further possible location of such lesions, the spinal cord, which we have defined as medullary Unidentified Bright Objects. These have been, to our knowledge, scarcely described in previous works. Case presentation: We report the cases of 7 patients with medullary Unidentified Bright Objects in Neurofibromatosis type 1 that we have followed for up to 9 years in our Regional Referral Center for Neurofibromatosis. In all of our patients, these lesions were completely asymptomatic and reported on Magnetic Resonance exams the patients underwent for other clinical indications. Conclusions: The aim of our work is to increase awareness of the possibility of medullary Unidentified Bright Objects in Neurofibromatosis type 1 patients, which can simulate neoplastic lesions, suggesting a more conservative approach in these cases.
- Published
- 2018
17. Can pontine trigeminal T2-hyperintensity suggest herpetic etiology of trigeminal neuralgia?
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Carmela Russo, Alessandra D'Amico, Elisa Capone, Arturo Brunetti, Felice D'Arco, Federica Mazio, Ferdinando Caranci, Lorenzo Ugga, Kshitij Mankad, E. Marano, D'Amico, A, Russo, C, Ugga, L, Mazio, F, Capone, E, D'Arco, F, Mankad, K, Caranci, Ferdinando, Marano, E, and Brunetti, A.
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Pontine lesion ,Pathology ,medicine.medical_specialty ,Herpes zoster ,Trigeminal nerve ,Herpes zoster, Pontine lesion, Trigeminal nerve, Neurovascular conflict ,Trigeminal neuralgia ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,0302 clinical medicine ,Atrophy ,medicine ,Radiology, Nuclear Medicine and imaging ,Stroke ,business.industry ,Multiple sclerosis ,Neurovascular conflict ,medicine.disease ,Neurovascular bundle ,Hyperintensity ,Original Article ,Brainstem ,business ,030217 neurology & neurosurgery - Abstract
Background Trigeminal neuralgia (TN) is usually classified into two different categories: idiopathic and secondary. We have investigated the frequency of brainstem pontine lesions in patients with idiopathic TN without multiple sclerosis (MS) or stroke, and their association with herpes zoster (HZ) infection. Methods Brain magnetic resonance imaging (MRI) studies of 28 patients with TN were retrospectively reviewed. Results We found seven patients with clinical suspicion of HZ infection and pontine T2 hyperintense lesions, associated with nerve atrophy in one case. Fifteen patients had a neurovascular conflict (NVC) without brainstem involvement, two of them associated with trigeminal atrophy, while four patients had only volumetric reduction of the nerve. In all patients MRI findings were ipsilateral to the side of TN. Conclusions Pontine T2 hyperintensities could be considered as a MRI sign of TN in patients without NVCs. This "trigeminal pontine sign" (TPS) is frequently found in association with herpetic infections.
- Published
- 2016
18. A case report of limbic encephalitis in a metastatic colon cancer patient during first-line bevacizumab-combined chemotherapy
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Elide Matano, Marcello Esposito, Antonio Santaniello, Fiore Manganelli, Chiara Carlomagno, Stefano De Falco, Laura Attademo, Francesca Foschini, Mario Rosanova, Federica Mazio, Giovanni Fiore, Attademo, Laura, De Falco, Stefano, Rosanova, Mario, Esposito, Marcello, Mazio, Federica, Foschini, Francesca, Santaniello, Antonio, Fiore, Giovanni, Matano, Elide, Manganelli, Fiore, and Carlomagno, Chiara
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Male ,Oncology ,medicine.medical_specialty ,Bevacizumab ,Colorectal cancer ,paraneoplastic syndromes ,medicine.medical_treatment ,Bone Neoplasms ,colorectal cancer ,Bone Neoplasm ,Fluid-attenuated inversion recovery ,paraneoplastic syndrome ,03 medical and health sciences ,limbic encephalitis ,Antineoplastic Agents, Immunological ,0302 clinical medicine ,Internal medicine ,Antineoplastic Combined Chemotherapy Protocols ,medicine ,Humans ,Clinical Case Report ,030212 general & internal medicine ,Colonic Neoplasm ,Chemotherapy ,FOLFOXIRI ,Antineoplastic Combined Chemotherapy Protocol ,business.industry ,Medicine (all) ,Standard treatment ,Liver Neoplasms ,autoimmunity ,Limbic Encephaliti ,Limbic encephalitis ,Electroencephalography ,Combination chemotherapy ,General Medicine ,Middle Aged ,medicine.disease ,Magnetic Resonance Imaging ,Liver Neoplasm ,Colonic Neoplasms ,business ,030217 neurology & neurosurgery ,Research Article ,Human ,medicine.drug - Abstract
Rationale: Paraneoplastic limbic encephalitis (PLE) is one of the most common causes of neurologic paraneoplastic syndromes, with unclear pathogenesis. While several reports published in the last decades showed the occurrence of PLE in a variety of cancers, only a few cases have been associated with colon cancer. Patient concerns: In February 2017, a 54-year-old man with clinical history of radically resected colon cancer started first line chemotherapy with FOLFOXIRI plus bevacizumab, after radiological diagnosis of multiple liver and bone metastases. During the third cycle of treatment, the patient developed psychomotor agitation and hallucinations followed by severe consciousness level reduction and cognitive impairment. Diagnoses: Magnetic resonance imaging showed hyperintense signals in both hippocampal areas, insula and right cingulate gyrus on fluid attenuated inversion recovery, diffusion weighted imaging, and T2-weighted images, highly suggestive of limbic encephalitis. Other causes (brain metastases, toxicity of chemotherapeutic agents, and infections) were excluded. Interventions: Empirical immunosuppressive treatment (high-dose immunoglobulins and corticosteroids) was administered and chemotherapy was resumed. Outcomes: A slowly progressive improvement in neurological condition has been observed, even though radiological signs of limbic encephalitis are still evident. Lessons: The present case highlights the complex diagnostic process of PLE, and the lack of a standard treatment. Moreover, the absence of correlation between PLE and tumor progression or tumor burden, and the opportunity of treating underlying neoplasm is discussed.
- Published
- 2018
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