SUELY FAZIO FERRACIOLLI
Projetos de Pesquisa
Unidades Organizacionais
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina
LIM/44 - Laboratório de Ressonância Magnética em Neurorradiologia, Hospital das Clínicas, Faculdade de Medicina
LIM/44 - Laboratório de Ressonância Magnética em Neurorradiologia, Hospital das Clínicas, Faculdade de Medicina
11 resultados
Resultados de Busca
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- Brain abnormalities in myelomeningocele patients(2020) MORAIS, Barbara Albuquerque; SOLLA, Davi Jorge Fontoura; YAMAKI, Vitor Nagai; FERRACIOLLI, Suely Fazio; ALVES, Cesar Augusto P. F.; CARDEAL, Daniel Dante; MATUSHITA, Hamilton; TEIXEIRA, Manoel JacobsenBackground Myelomeningocele (MMC) is often related to hydrocephalus and Chiari malformation (CM) type 2; however, other brain abnormalities have been reported in this population. In order to better understand and quantify other forebrain abnormalities, we analyzed magnetic resonance imaging (MRI) of MMC patients treated in utero or postnatal. Methods Between January 2014 and March 2017, 59 MMC were treated in our hospital. Thirty-seven patients (32 postnatal and 5 intrautero repair) had brain MRI and were enrolled at the study. MRI was analyzed by two experienced neuroradiologists to identify the supra and infratentorial brain abnormalities. Results A wide range of brain abnormalities was consistently identified in MMC patients. As expected, the most common were hydrocephalus (94.5%) and CM type II (89.1%). Of note, we found high incidence of corpus callosum abnormalities (86.4%), mostly represented by dysplasia (46%). Conclusions The data are consistent with the concept that brain abnormalities related to MMC can be both infratentorial and supratentorial, cortical, and subcortical. More studies are needed to correlate these forebrain abnormalities to long-term functional outcome and their prognostic value for these patients.
- Neurosarcoidosis during the treatment of primary Sjogren's syndrome: is it a paradoxical effect of rituximab?(2022) CORDEIRO, R. A.; OLIVEIRA, J. L. De; FERRACIOLLI, S. F.; GUEDES, L. K. N.; PASOTO, S. G.
conferenceObject ATYPICAL TERATOID RHABDOID TUMORS (ATRT): RESULTS FROM A SINGLE INSTITUTION IN BRAZIL - SAO PAULO UNIVERSITY(2022) BARRETO, Juliana Silveira; GOMEZ, Karen Nirit Melo; DUTRA, Alvaro Pimenta; AZAMBUJA, Alessandra Milani Prandini De; CRISTOFANI, Lilian Maria; SANDERS, Felipe Hada; PETITO, Carlo; BARALDI, Helena Espindola; WELTMAN, Eduardo; FERRACIOLLI, Suely Fazio; FRASSETTO, Fernando Pereira; LUCATO, Leandro Tavares; ROSEMBERG, Sergio; ODONE FILHO, Vicente- Decaying molar tooth sign in Joubert syndrome and related disorders is correlated to a displacement of the corticospinal tract(2017) ALVES, Cesar Augusto Pinheiro Ferreira; FERRACIOLLI, Suely; MATSUI, Ciro; LUCATO, Leandro Tavares
- Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis(2023) ALVES, C. A. P. F.; SIDPRA, J.; MANTEGHINEJAD, A.; SUDHAKAR, S.; MASSEY, F. V.; ALDINGER, K. A.; HALDIPUR, P.; LUCATO, L. T.; FERRACIOLLI, S. F.; TEIXEIRA, S. R.; OZTEKIN, O.; BHATTACHARYA, D.; TARANATH, A.; PRABHU, S. P.; MIRSKY, D. M.; ANDRONIKOU, S.; MILLEN, K. J.; BARKOVICH, A. J.; BOLTSHAUSER, E.; DOBYNS, W. B.; BARKOVICH, M. J.; WHITEHEAD, M. T.; MANKAD, K.BACKGROUND AND PURPOSE: Although cardinal imaging features for the diagnostic criteria of the Dandy-Walker phenotype have been recently defined, there is a large range of unreported malformations among these patients. The brainstem, in particular, deserves careful attention because malformations in this region have potentially important implications for clinical outcomes. In this article, we offer detailed information on the association of brainstem dysgenesis in a large, multicentric cohort of patients with the Dandy-Walker phenotype, defining different subtypes of involvement and their potential clinical impact. MATERIALS AND METHODS: In this established multicenter cohort of 329 patients with the Dandy-Walker phenotype, we include and retrospectively review the MR imaging studies and clinical records of 73 subjects with additional brainstem malformations. Detailed evaluation of the different patterns of brainstem involvement and their potential clinical implications, along with comparisons between posterior fossa measurements for the diagnosis of the Dandy-Walker phenotype, was performed among the different subgroups of patients with brainstem involvement. RESULTS: There were 2 major forms of brainstem involvement in patients with Dandy-Walker phenotype including the following: 1) the mild form with anteroposterior disproportions of the brainstem structures ""only"" (57/73; 78%), most frequently with pontine hypoplasia (44/57; 77%), and 2) the severe form with patients with tegmental dysplasia with folding, bumps, and/or clefts (16/73; 22%). Patients with severe forms of brainstem malformation had significantly increased rates of massive ventriculomegaly, additional malformations involving the corpus callosum and gray matter, and interhemispheric cysts. Clinically, patients with the severe form had significantly increased rates of bulbar dysfunction, seizures, and mortality. CONCLUSIONS: Additional brainstem malformations in patients with the Dandy-Walker phenotype can be divided into 2 major subgroups: mild and severe. The severe form, though less prevalent, has characteristic imaging features, including tegmental folding, bumps, and clefts, and is directly associated with a more severe clinical presentation and increased mortality.
- Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation(2023) CAMELO, Clara Gontijo; ARTILHEIRO, Mariana Cunha; MORENO, Cristiane Araujo Martins; FERRACIOLLI, Suely Fazio; SILVA, Andre Macedo Serafim; FERNANDES, Tatiana Ribeiro; LUCATO, Leandro Tavares; ROCHA, Antonio Jose; REED, Umbertina Conti; ZANOTELI, EdmarBackground: LAMA2-related muscular dystrophy is a disorder that causes muscle weakness and varies in severity, from a severe, congenital type to a milder, late-onset form. However, the disease does not only affect the muscles, but has systemic involvement and can lead to alterations such as brain malformation, epilepsy and intellectual disability. Objective: Describe the frequency of cortical malformations, epilepsy and intellectual disability in LAMA2-RD in a Brazilian cohort and correlate the neurological findings to genetic and motor function. Methods: This is an observational study of 52 LAMA2-RD patients, who were divided into motor function subgroups and compared based on brain MRI findings, epilepsy, intellectual disability, and type of variants and variant domains. Results: 44 patients (84.6%) were only able to sit, and 8 patients (15.4%) were able to walk. 10 patients (19.2%) presented with cortical malformations (polymicrogyria, lissencephaly-pachygyria, and cobblestone),10 patients (19.2%) presented with epilepsy, and 8 (15.4%) had intellectual disability. CNS manifestations correlated with a more severe motor phenotype and none of the patients able to walk presented with cortical malformation or epilepsy. There was a relation between gene variants affecting the laminin-alpha 2 LG-domain and the presence of brain malformation (P = 0.016). There was also a relation between the presence of null variants and central nervous system involvement. A new brazilian possible founder variant was found in 11 patients (21,15%) (c.1255del; p. Ile419Leufs* 4). Conclusion: Cortical malformations, epilepsy and intellectual disability are more frequent among LAMA2-RD patients than previously reported and correlate with motor function severity and the presence of variants affecting the laminin-alpha 2 LG domain. This brings more insight for phenotype-genotype correlations, shows the importance of reviewing the brain MRI of patients with LAMA2-RD and allows greater attention to the risk of brain malformation, epilepsy, and intellectual disability in those patients with variants that affect the LG domain.
- Glioneuronal and Neuronal Tumors: Who? When? Where? An Update Based on the 2021 World Health Organization Classification(2023) AYRES, A. S.; BANDEIRA, G. A.; FERRACIOLLI, S. F.; TAKAHASHI, J. T.; MORENO, R. A.; GODOY, L. F. de Souza; CASAL, Y. R.; LIMA, L. G. C. A. de; FRASSETO, F. P.; LUCATO, L. T.Neuronal and glioneuronal tumors usually have a benign course and may have typical imaging characteristics, allowing their diagnosis based on MR imaging findings. The most common lesions are dysembryoplastic neuroepithelial tumors and gangliogliomas, which have typical imaging characteristics. The fifth edition of the World Health Organization Classification of Tumors of the Central Nervous System, recently published in 2021, places greater emphasis on molecular markers to classify tumors of the CNS, leading to extensive changes in the classification of tumors, including neuronal and glioneuronal tumors. The 2021 revision included 3 new tumors types: multinodular and vacuolating neuronal tumor, diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters (a provisional type), and myxoid glioneuronal tumor. Following these recent changes in the World Health Organization classification, we aimed to review the main imaging features of these lesions in relation to their histopathologic and molecular features. Learning Objectives: To list the neuronal and glioneuronal tumors; recognize the main imaging findings and histologic characteristics of neuronal and glioneuronal tumors; know the typical location of each neuronal and glioneuronal tumor; and become familiar with the main molecular alterations of neuronal and glioneuronal tumors to better understand their behavior
- Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics(2021) HONJO, Rachel Sayuri; CASTRO, Matheus Augusto Araujo; FERRACIOLLI, Suely Fazio; SOARES JUNIOR, Luiz Alberto Valente; PASTORINO, Antonio Carlos; BERTOLA, Debora Romeo; MIYAKE, Noriko; MATSUMOTO, Naomichi; KIM, Chong AeCerebellofaciodental syndrome is characterized by facial dysmorphisms, intellectual disability, cerebellar hypoplasia, and dental anomalies. It is an autosomal-recessive condition described in 2015 caused by pathogenic variants in BRF1. Here, we report a Brazilian patient who faced a diagnostic challenge beginning at 11 months of age. Fortunately, whole-exome sequencing (WES) was performed, detecting the BRF1 variants NM_001519.3:c.1649delG:p.(Gly550Alafs*36) and c.421C>T:p.(Arg141Cys) in compound heterozygosity, thus finally achieving a diagnosis of cerebellofaciodental syndrome. The patient is currently 25 years old and is the oldest patient yet reported. The clinical report and a review of published cases are presented. Atlanto-occipital fusion, a reduced foramen magnum and basilar invagination leading to compression of the medulla-spinal cord transition are skeletal findings not reported in previous cases. The description of syndromes with dental findings shows that such anomalies can be an important clue to relevant differential diagnoses. The cooperation of groups from different international centers made possible the resolution of this and other cases and is one of the strategies to bring medical advances to developing countries, where many patients with rare diseases are difficult to diagnose definitively.
- Imaging of pediatric skull lytic lesions: A review(2024) SANTOS, Mariana; CUNHA, Bruno; ABREU, Vasco; FERRACIOLLI, Suely; GODOY, Luis; MURAKOSHI, Rodrigo; AMARAL, Lazaro Luis Faria; CONCEICAO, CarlaSkull lesions in pediatric population are common findings on imaging and sometimes with heterogeneous manifestations, constituting a diagnostic challenge. Some lesions can be misinterpreted for their aggressiveness, as with larger lesions eroding cortical bone, containing soft tissue components, leading to excessive and, in some cases, invasive inappropriate etiological investigation. In this review, we present multiple several conditions that may present as skull lesions or pseudolesions, organized by groups (anatomic variants, congenital and development disorders, traumatic injuries, vascular issues, infectious conditions, and tumoral processes). Anatomic variants are common imaging findings that must be recognized by the neuroradiologist. Congenital malformations are rare conditions, such as aplasia cutis congenita and sinus pericranii, usually seen at earlier ages, the majority of which are benign findings. In case of trauma, cephalohematoma, growing skull fractures, and posttraumatic lytic lesions should be considered. Osteomyelitis tends to be locally aggressive and may mimic malignancy, in which cases, the clinical history can be the key to diagnosis. Vascular (sickle cell disease) and tumoral (aneurismal bone cyst, eosinophilic granuloma, metastases) lesions are relatively rare lesions but should be considered in the differential diagnosis, in the presence of certain imaging findings. The main difficulty is the differentiation between the benign and malignant nature; therefore, the main objective of this pictorial essay is to review the main skull lytic lesions found in pediatric age, describing the main findings in different imaging modalities (CT and MRI), allowing the neuroradiologist greater confidence in establishing the differential diagnosis, through a systematic and simple characterization of the lesions.
- Automatic Segmentation of Posterior Fossa Structures in Pediatric Brain MRIs(2021) OLIVEIRA, Hugo; PENTEADO, Larissa; MACIEL, Jose Luiz; FERRACIOLLI, Suely Fazio; TAKAHASHI, Marcelo Straus; BLOCH, Isabelle; CESAR JUNIOR, RobertoPediatric brain MRI is a useful tool in assessing the healthy cerebral development of children. Since many pathologies may manifest in the brainstem and cerebellum, the objective of this study was to have an automated segmentation of pediatric posterior fossa structures. These pathologies include a myriad of etiologies from congenital malformations to tumors, which are very prevalent in this age group. We propose a pediatric brain MRI segmentation pipeline composed of preprocessing, semantic segmentation and post-processing steps. Segmentation modules are composed of two ensembles of networks: generalists and specialists. The generalist networks are responsible for locating and roughly segmenting the brain areas, yielding regions of interest for each target organ. Specialist networks can then improve the segmentation performance for underrepresented organs by learning only from the regions of interest from the generalist networks. At last, post-processing consists in merging the specialist and generalist networks predictions, and performing late fusion across the distinct architectures to generate a final prediction. We conduct a thorough ablation analysis on this pipeline and assess the superiority of the methodology in segmenting the brain stem, 4th ventricle and cerebellum. The proposed methodology achieved a macro-averaged Dice index of 0.855 with respect to manual segmentation, with only 32 labeled volumes used during training. Additionally, average distances between automatically and manually segmented surfaces remained around 1mm for the three structures, while volumetry results revealed high agreement between manually labeled and predicted regions.