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1.
AJNR Am J Neuroradiol ; 44(10): 1201-1207, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37591769

RESUMO

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.


Assuntos
Síndrome de Dandy-Walker , Hidrocefalia , Malformações do Sistema Nervoso , Humanos , Síndrome de Dandy-Walker/diagnóstico por imagem , Estudos Retrospectivos , Tronco Encefálico/diagnóstico por imagem , Prognóstico
2.
AJNR Am J Neuroradiol ; 43(10): 1488-1493, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-36137655

RESUMO

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.


Assuntos
Cistos , Síndrome de Dandy-Walker , Humanos , Estudos Retrospectivos , Síndrome de Dandy-Walker/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Cerebelo/anormalidades , Neuroimagem , Imageamento por Ressonância Magnética/métodos , Fossa Craniana Posterior/diagnóstico por imagem , Fossa Craniana Posterior/anormalidades
3.
AJNR Am J Neuroradiol ; 43(1): 146-150, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34857515

RESUMO

BACKGROUND AND PURPOSE: Pathogenic variants in the ACTA2 gene cause a distinctive arterial phenotype that has recently been described to be associated with brain malformation. Our objective was to further characterize gyral abnormalities in patients with ACTA2 pathogenic variants as per the 2020 consensus recommendations for the definition and classification of malformations of cortical development. MATERIALS AND METHODS: We performed a retrospective, multicentric review of patients with proved ACTA2 pathogenic variants, searching for the presence of malformations of cortical development. A consensus read was performed for all patients, and the type and location of cortical malformation were noted in each. The presence of the typical ACTA2 arterial phenotype as well as demographic and relevant clinical data was obtained. RESULTS: We included 13 patients with ACTA2 pathogenic variants (Arg179His mutation, n = 11, and Arg179Cys mutation, n = 2). Ninety-two percent (12/13) of patients had peri-Sylvian dysgyria, 77% (10/13) had frontal dysgyria, and 15% (2/13) had generalized dysgyria. The peri-Sylvian location was involved in all patients with dysgyria (12/12). All patients with dysgyria had a characteristic arterial phenotype described in ACTA2 pathogenic variants. One patient did not have dysgyria or the characteristic arterial phenotype. CONCLUSIONS: Dysgyria is common in patients with ACTA2 pathogenic variants, with a peri-Sylvian and frontal predominance, and was seen in all our patients who also had the typical ACTA2 arterial phenotype.


Assuntos
Malformações do Sistema Nervoso , Actinas/genética , Humanos , Mutação , Fenótipo , Estudos Retrospectivos
4.
Clin Radiol ; 76(5): 391.e19-391.e31, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33648757

RESUMO

Paediatric posterior fossa lesions can have much overlap in their clinical and radiological presentation. There are, however, a number of key imaging features that can help the reading radiologist to distinguish tumours from important tumour mimics which are often inflammatory or metabolic entities. This pictorial review provides a number of important cases that proved challenging on imaging and illustrates some common pitfalls when interpreting lesions in the posterior fossa in children. Not everything that is abnormal will be a tumour, but often other causes are overlooked and misinterpreted as tumours, leading to great morbidity for that child. This article highlights some lesions that were mistaken as tumours and will introduce the reader to less commonly seen pathologies which are important to consider on a differential list for this location.


Assuntos
Encefalopatias/diagnóstico por imagem , Diagnóstico por Imagem/métodos , Neoplasias Infratentoriais/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Criança , Diagnóstico Diferencial , Humanos
5.
Acta Radiol ; 47(1): 100-2, 2006 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16498940

RESUMO

The vitelline or omphalomesenteric duct malformations constitute a rare group and are seen in only 2% of people. The malformations can take the form of a patent duct, a cyst, a fistula, or a sinus. They may or may not be symptomatic depending on the type of malformation. We present ultrasonographic features of a patent omphalomesenteric duct remnant in a 3-week-old boy who presented to our hospital with a non-healing umbilical lesion. Ultrasound can prove beneficial in the work-up of such cases.


Assuntos
Hérnia Umbilical/diagnóstico , Umbigo/anormalidades , Ducto Vitelino/anormalidades , Ducto Vitelino/diagnóstico por imagem , Hérnia Umbilical/cirurgia , Humanos , Recém-Nascido , Masculino , Doenças Raras , Ultrassonografia , Umbigo/diagnóstico por imagem , Umbigo/cirurgia , Ducto Vitelino/cirurgia
6.
Australas Radiol ; 49(5): 433-7, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16174188

RESUMO

Desmoplastic infantile ganglioglioma is a rare intracranial tumour of childhood that involves the cerebral cortex and the leptomeninges. We report two patients with desmoplastic infantile gangliogliomas and multiple cerebrospinal metastases. To our knowledge, only two similar cases have been reported in the published literature. Pathologically, this rare intracranial tumour shows glial and ganglionic differentiation, accompanied by an extreme desmoplastic reaction. These are low-grade neoplasms that are questionably benign.


Assuntos
Neoplasias Encefálicas/patologia , Ganglioglioma/patologia , Imageamento por Ressonância Magnética , Neoplasias da Medula Espinal/patologia , Humanos , Lactente , Masculino
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