LEANDRO TAVARES LUCATO
Projetos de Pesquisa
Unidades Organizacionais
Instituto de Radiologia, Hospital das Clínicas, Faculdade de Medicina - Médico
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
4 resultados
Resultados de Busca
Agora exibindo 1 - 4 de 4
- Clinical and genetic characterization of leukoencephalopathies in adults(2017) LYNCH, David S.; PAIVA, Anderson Rodrigues Brandao de; ZHANG, Wei Jia; BUGIARDINI, Enrico; FREUA, Fernando; LUCATO, Leandro Tavares; MACEDO-SOUZA, Lucia Ines; LAKSHMANAN, Rahul; KINSELLA, Justin A.; MERWICK, Aine; ROSSOR, Alexander M.; BAJAJ, Nin; HERRON, Brian; MCMONAGLE, Paul; MORRISON, Patrick J.; HUGHES, Deborah; PITTMAN, Alan; LAURA, Matilde; REILLY, Mary M.; WARREN, Jason D.; MUMMERY, Catherine J.; SCHOTT, Jonathan M.; ADAMS, Matthew; FOX, Nick C.; MURPHY, Elaine; DAVAGNANAM, Indran; KOK, Fernando; CHATAWAY, Jeremy; HOULDEN, HenryLeukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs. Mutations in at least 60 genes can lead to leukoencephalopathy with often overlapping clinical and radiological presentations. For these reasons, patients with genetic leukoencephalopathies often endure a long diagnostic odyssey before receiving a definitive diagnosis or may receive no diagnosis at all. In this study, we used focused and whole exome sequencing to evaluate a cohort of undiagnosed adult patients referred to a specialist leukoencephalopathy service. In total, 100 patients were evaluated using focused exome sequencing of 6100 genes. We detected pathogenic or likely pathogenic variants in 26 cases. The most frequently mutated genes were NOTCH3, EIF2B5, AARS2 and CSF1R. We then carried out whole exome sequencing on the remaining negative cases including four family trios, but could not identify any further potentially disease-causing mutations, confirming the equivalence of focused and whole exome sequencing in the diagnosis of genetic leukoencephalopathies. Here we provide an overview of the clinical and genetic features of these disorders in adults.
- Refining the Neuroimaging Definition of the Dandy-Walker Phenotype(2022) WHITEHEAD, M. T.; BARKOVICH, M. J.; SIDPRA, J.; ALVES, C. A.; MIRSKY, D. M.; OZTEKIN, O.; BHATTACHARYA, D.; LUCATO, L. T.; SUDHAKAR, S.; TARANATH, A.; ANDRONIKOU, S.; PRABHU, S. P.; ALDINGER, K. A.; HALDIPUR, P.; MILLEN, K. J.; BARKOVICH, A. J.; BOLTSHAUSER, E.; DOBYNS, W. B.; MANKAD, K.BACKGROUND AND PURPOSE: The traditionally described Dandy-Walker malformation comprises a range of cerebellar and posterior fossa abnormalities with variable clinical severity. We aimed to establish updated imaging criteria for Dandy-Walker malformation on the basis of cerebellar development. MATERIALS AND METHODS: In this multicenter study, retrospective MR imaging examinations from fetuses and children previously diagnosed with Dandy-Walker malformation or vermian hypoplasia were re-evaluated, using the choroid plexus/tela choroidea location and the fastigial recess shape to differentiate Dandy-Walker malformation from vermian hypoplasia. Multiple additional measures of the posterior fossa and cerebellum were also obtained and compared between Dandy-Walker malformation and other diagnoses. RESULTS: Four hundred forty-six examinations were analyzed (174 fetal and 272 postnatal). The most common diagnoses were Dandy-Walker malformation (78%), vermian hypoplasia (14%), vermian hypoplasia with Blake pouch cyst (9%), and Blake pouch cyst (4%). Most measures were significant differentiators of Dandy-Walker malformation from non-Dandy-Walker malformation both pre- and postnatally (P < .01); the tegmentovermian and fastigial recess angles were the most significant quantitative measures. Posterior fossa perimeter and vascular injury evidence were not significant differentiators pre- or postnatally (P > .3). The superior posterior fossa angle, torcular location, and vermian height differentiated groups postnatally (P < .01), but not prenatally (P > .07). CONCLUSIONS: As confirmed by objective measures, the modern Dandy-Walker malformation phenotype is best defined by inferior predominant vermian hypoplasia, an enlarged tegmentovermian angle, inferolateral displacement of the tela choroidea/choroid plexus, an obtuse fastigial recess, and an unpaired caudal lobule. Posterior fossa size and torcular location should be eliminated from the diagnostic criteria. This refined phenotype may help guide future study of the numerous etiologies and varied clinical outcomes.
- 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.
- International Consensus Statement on the Radiological Screening of Contact Children in the Context of Suspected Child Physical Abuse(2023) MANKAD, Kshitij; SIDPRA, Jai; MIRSKY, David M.; OATES, Adam J.; COLLERAN, Gabrielle C.; LUCATO, Leandro T.; KAN, Elaine; KILBORN, Tracy; AGRAWAL, Nina; TEEUW, Arianne H.; KELLY, Patrick; ZEITLIN, Deborah; CARTER, Jamieson; DEBELLE, Geoff D.; BERGER, Rachel P.; CHRISTIAN, Cindy W.; LINDBERG, Daniel M.; RAISSAKI, Maria; ARGYROPOULOU, Maria; ADAMSBAUM, Catherine; CAIN, Timothy; RIJN, Rick R. van; SILVERA, V. Michelle; ROSSI, Andrea; KEMP, Alison M.; CHOUDHARY, Arabinda K.; OFFIAH, Amaka C.Importance Physical abuse is a common but preventable cause of long-term childhood morbidity and mortality. Despite the strong association between abuse in an index child and abuse in contact children, there is no guidance outlining how to screen the latter, significantly more vulnerable group, for abusive injuries. Consequently, the radiological assessment of contact children is often omitted, or variably performed, allowing occult injuries to go undetected and increasing the risk of further abuse.Objective To report an evidence-based and consensus-derived set of best practices for the radiological screening of contact children in the context of suspected child physical abuse.Evidence Review This consensus statement is supported by a systematic review of the literature and the clinical opinion of an internationally recognized group of 26 experts. The modified Delphi consensus process comprised 3 meetings of the International Consensus Group on Contact Screening in Suspected Child Physical Abuse held between February and June 2021.Findings Contacts are defined as the asymptomatic siblings, cohabiting children, or children under the same care as an index child with suspected child physical abuse. All contact children should undergo a thorough physical examination and a history elicited prior to imaging. Contact children younger than 12 months should have neuroimaging, the preferred modality for which is magnetic resonance imaging, and skeletal survey. Contact children aged 12 to 24 months should undergo skeletal survey. No routine imaging is indicated in asymptomatic children older than 24 months. Follow-up skeletal survey with limited views should be performed if abnormal or equivocal at presentation. Contacts with positive findings should be investigated as an index child.Conclusions and Relevance This Special Communication reports consensus recommendations for the radiological screening of contact children in the context of suspected child physical abuse, establishing a recognized baseline for the stringent evaluation of these at-risk children and providing clinicians with a more resilient platform from which to advocate for them.