Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 32
Filtrar
1.
Neuroradiology ; 66(7): 1213-1223, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38720066

RESUMO

PURPOSE: To describe fetal brain Magnetic Resonance Imaging (MRI) findings in a large series of monochorionic (MC) pregnancies complicated by Twin Anemia-Polycythemia Sequence (TAPS) prenatally diagnosed, so to characterize the potential intracranial complications associated with this condition, their frequency and potential treatment options. METHODS: This is a retrospective study of MC twin pregnancies complicated by TAPS and undergone fetal MRI in a single institution from 2006 to 2023. MRI control was performed and post-natal ultrasound (US) or MRI were available. RESULTS: 1250 MC pregnancies were evaluated in our institution. 50 pregnancies (4%) were diagnosed with TAPS, 29 underwent a fetal brain MRI. 13/29 pregnancies (44.8%) demonstrated brain findings at MRI in at least a twin. Neuroradiological findings were detected in 14/57 twins (24.6%). We detected four main categories of findings: hemorrhagic lesions, T2-weighted white-matter hyperintensities (WMH), brain edema-swelling and venous congestion. Nineteen findings were present in the anemic and three in the polycythemic twins, with a statistically significant ratio between the two groups (p-value = 0.01). Intrauterine MRI follow-up demonstrated the sequalae of hemorrhagic lesions. A complete regression of brain swelling, veins prominence and T2-WMHs was demonstrated after treatment. Postnatal imaging confirmed prenatal features. CONCLUSIONS: Our work demonstrates that TAPS-related MRI anomalies consisted in edematous/hemorrhagic lesions that occur mostly in anemic rather than in polycythemic twins. Fetoscopic laser surgery could have a potential decongestant role. Therefore, prenatal MRI may help in counselling and management in TAPS pregnancies, especially for the planning of therapy and the monitoring of its efficacy.


Assuntos
Transfusão Feto-Fetal , Imageamento por Ressonância Magnética , Humanos , Feminino , Gravidez , Imageamento por Ressonância Magnética/métodos , Estudos Retrospectivos , Transfusão Feto-Fetal/diagnóstico por imagem , Transfusão Feto-Fetal/complicações , Adulto , Gravidez de Gêmeos , Diagnóstico Pré-Natal/métodos , Policitemia/diagnóstico por imagem , Anemia/diagnóstico por imagem
2.
Pediatr Neurol ; 155: 104-113, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38631078

RESUMO

BACKGROUND: The prognostic relevance of fetal/early postnatal magnetic resonance (MR) imaging (MRI) isolated "minor" lesions in congenital cytomegalovirus (CMV) infection is still unclear, because of the heterogeneity of previously reported case series. The aim of this study was to report the imaging and long-term clinical follow-up data on a relatively large cohort of infected fetuses. METHODS: Among 140 CMV-infected fetuses from a single-center 12-year-long fetal MRI database, cases that showed isolated "minor" lesions at MRI, mainly represented by polar temporal lesions, were selected. MRI features were described, and clinical follow-up information was collected through consultation of medical records and telephone interview to establish the auditory and neurological outcome of each patient. RESULTS: Thirty-six cases were included in the study. The frequency of "minor" lesions increased progressively with ongoing gestational age in cases who underwent serial MR examination; 31% of cases were symptomatic at birth for unilateral altered auditory brainstem response. At long-term clinical follow-up, performed in 35 patients at a mean age of 64.5 months (range: 25 to 138), 43% of patients were asymptomatic and 57% presented with mild/moderate disability including hearing loss (34%), unilateral in all cases but one (therefore classified as severe), and/or minor cognitive and behavioral disorders (49%). CONCLUSIONS: Descriptive analysis of the type and modality of occurrence of "minor" lesions suggests performing serial fetal/postnatal MR examinations not to miss later-onset lesions. Follow-up data from the present cohort, combined with maternal/fetal factors and serologic-laboratory parameters may contribute to improve prenatal and neonatal period counselling skills.


Assuntos
Infecções por Citomegalovirus , Imageamento por Ressonância Magnética , Humanos , Infecções por Citomegalovirus/diagnóstico por imagem , Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/complicações , Feminino , Gravidez , Masculino , Lactente , Pré-Escolar , Seguimentos , Recém-Nascido , Criança , Encéfalo/diagnóstico por imagem , Diagnóstico Pré-Natal
3.
Childs Nerv Syst ; 40(6): 1961-1964, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38472390

RESUMO

Epidermoid cysts are infrequent, benign, slow-growing, space-occupying lesions that account for 0.5-1.8% of primary intracranial tumors. We report the case of a 17-month-old child who presented in 2015 for one episode of pallor associated with hypotonia. Epilepsy was excluded and MRI was recommended. The MRI was performed and there were no focal parenchymal lesions, but it showed an extra-axial ovoid lesion with imaging characteristics consistent with epidermoid cyst. Follow-up MRI at one year was performed and it showed minimal increased in dimensions of the cyst, without changes into the signal of the lesion. Another MRI was performed 7 years after and it showed complete resolution of the cyst. Six months afterwards, another MRI was performed and it confirmed the complete regression of the cyst, without any extra-axial masses reported. The patient did not present any neurological anomalies. No follow-up MRI was recommended afterwards. Spontaneous regression of epidermoid cyst in pediatric population is an extremely rare event, but it should be taken into account when the patient shows no symptoms. This is the third case of spontaneous regression of an epidermoid cyst reported in pediatric patients, and the first one in the temporal region. Careful follow-up and watchful waiting could be an option to surgical treatment in epidermoid cysts.


Assuntos
Cisto Epidérmico , Imageamento por Ressonância Magnética , Remissão Espontânea , Humanos , Cisto Epidérmico/cirurgia , Cisto Epidérmico/diagnóstico por imagem , Cisto Epidérmico/patologia , Criança
4.
Neuroradiology ; 65(12): 1813-1823, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37910190

RESUMO

Over time, fetal MR neuro-imaging has undergone continuous improvement; presently, it plays a pivotal role in the diagnosis of an expanding array of complex neurological conditions. Within this pictorial essay, our focus will be exclusively directed towards those cutting-edge clinical applications, which currently yield valuable diagnostic insights on a single case basis. Specifically, the pictorial examples will center on some abnormal entities and their features at an earlier fetal stage.


Assuntos
Feto , Diagnóstico Pré-Natal , Gravidez , Feminino , Humanos , Idade Gestacional , Diagnóstico Pré-Natal/métodos , Imageamento por Ressonância Magnética/métodos
5.
Genet Med ; 25(11): 100938, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37454282

RESUMO

PURPOSE: Biallelic variants in TARS2, encoding the mitochondrial threonyl-tRNA-synthetase, have been reported in a small group of individuals displaying a neurodevelopmental phenotype but with limited neuroradiological data and insufficient evidence for causality of the variants. METHODS: Exome or genome sequencing was carried out in 15 families. Clinical and neuroradiological evaluation was performed for all affected individuals, including review of 10 previously reported individuals. The pathogenicity of TARS2 variants was evaluated using in vitro assays and a zebrafish model. RESULTS: We report 18 new individuals harboring biallelic TARS2 variants. Phenotypically, these individuals show developmental delay/intellectual disability, regression, cerebellar and cerebral atrophy, basal ganglia signal alterations, hypotonia, cerebellar signs, and increased blood lactate. In vitro studies showed that variants within the TARS2301-381 region had decreased binding to Rag GTPases, likely impairing mTORC1 activity. The zebrafish model recapitulated key features of the human phenotype and unraveled dysregulation of downstream targets of mTORC1 signaling. Functional testing of the variants confirmed the pathogenicity in a zebrafish model. CONCLUSION: We define the clinico-radiological spectrum of TARS2-related mitochondrial disease, unveil the likely involvement of the mTORC1 signaling pathway as a distinct molecular mechanism, and establish a TARS2 zebrafish model as an important tool to study variant pathogenicity.


Assuntos
RNA de Transferência , Peixe-Zebra , Animais , Humanos , Mutação , Peixe-Zebra/genética , Alvo Mecanístico do Complexo 1 de Rapamicina , Ligases , Fenótipo
6.
Neurol Sci ; 44(9): 3037-3043, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37046037

RESUMO

BACKGROUND AND AIMS: Mutations in FDXR gene, involved in mitochondrial pathway, cause a rare recessive neurological disorder with variable severity of phenotypes. The most common presentation includes optic and/or auditory neuropathy, variably associated to developmental delay or regression, global hypotonia, pyramidal, cerebellar signs, and seizures. The review of clinical findings in previously described cases from literature reveals also a significant incidence of sensorimotor peripheral polyneuropathy (22.72%) and ataxia (43.18%). To date, 44 patients with FDXR mutations have been reported. We describe here on two new patients, siblings, who presented with a quite different phenotype compared to previously described patients. METHODS: Clinical, neurophysiological, and genetic features of two siblings and a systematic literature review focused on the clinical spectrum of the disease are described. RESULTS: Both patients presented with an acute-sub-acute onset of peripheral neuropathy and only in later stages of the disease developed the typical features of FDXR-associated disease. INTERPRETATION: The peculiar clinical presentation at onset and the evolution of the disease in our patients and in some cases revised from the literature shed lights on a new possible phenotype of FDXR-associated disease: a peripheral neuropathy which can mimic an acute inflammatory disease.


Assuntos
Ataxia Cerebelar , Doenças do Sistema Nervoso Periférico , Humanos , Diagnóstico Diferencial , Ataxia/diagnóstico , Ataxia/genética , Ataxia Cerebelar/diagnóstico , Mutação , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/genética , Fenótipo
7.
Front Pediatr ; 10: 932208, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36034550

RESUMO

Objective: To describe neurological involvement in multisystem inflammatory syndrome in children (MIS-C) and to evaluate whether neurological manifestations are related to the degree of multiorgan involvement and inflammation. Methods: The authors conducted a retrospective analysis of clinical, electroencephalographic (EEG), neuroradiological (MRI), and CSF parameters in 62 children with MIS-C (45 M, age 8 months-17 years, mean age 9 years) hospitalized between October 1, 2020 and March 31, 2022. Results: Neurological involvement was documented in 58/62 (93.5%) patients. Altered mental status was observed in 29 (46.7%), focal neurological signs in 22 (35.4%), and non-specific symptoms in 54 (87%). EEG was performed in 26/62 children: 20 showed EEG slowing, diffuse or predominantly over the posterior regions. Ten patients underwent brain MRI: three showed a cytotoxic lesion of the corpus callosum. CSF analysis, performed in six patients, was normal. On the basis of the clinical and EEG findings, two profiles of neurological involvement were identified: 16/62 (26%) patients presented encephalitis with rapid-onset encephalopathy, focal neurological signs, and EEG slowing; 42/62 (68%) showed mild neurological involvement with mild or non-specific neurological signs. All patients received intravenous immunoglobulin and methylprednisolone (MTP), low-molecular-weight heparin, and therapeutic-dose anticoagulant treatment. Children with severe encephalopathy received intravenous MTP at 30 mg/kg/day for 3 days, obtaining rapid clinical and EEG improvement. Neurological assessment at discharge was normal in all cases. Children with encephalitis were younger than those without (median age 5 and 10 years, respectively); no differences between the two groups were found in the other parameters: comorbidities, fever, number of organs and systems involved, shock, hospitalization, pediatric intensive care unit admission, non-invasive ventilation, inotropic support, laboratory data. Conclusion: Neurological involvement in MIS-C is frequent but not serious in most cases: around two thirds of the affected children had mild and short-lasting symptoms. It seems to be related to age, but not to the degree of multiorgan involvement and inflammation. In children with acute immune-mediated encephalitis, the clinical picture was dominated by encephalopathy that disappeared with immunomodulatory therapy. Neurological assessment allowed timely diagnosis and treatment.

8.
Neuropediatrics ; 53(1): 26-31, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34404097

RESUMO

OBJECTIVE: To the best of our knowledge, there have not been studies to address the issue of long-term follow-up of patients with prenatal diagnosis of isolated complete septum pellucidum agenesis (SPA). The aim of this study was to acquire information about the school-age outcome of such patients as a resource for counseling parents receiving this prenatal finding. METHODS: From a large fetal magnetic resonance (MR) database, we selected only those cases with isolated complete SPA as confirmed by two senior pediatric neuroradiologists in consensus; we then gathered information from the parents of those children who had reached the school age. RESULTS: None among the 12 cases (mean age at follow-up: 8.7 years, range: 6-13 year) of the resulting final cohort presented visual or stature deficits; only one required special teaching assistance in school. All other 11 children resulted without any notable academic issue. CONCLUSION: Our report may provide information of practical value about the school-age outcome of fetuses detected by prenatal MR imaging to carry isolated complete SPA.


Assuntos
Septo Pelúcido , Ultrassonografia Pré-Natal , Criança , Feminino , Feto , Humanos , Imageamento por Ressonância Magnética/métodos , Gravidez , Diagnóstico Pré-Natal/métodos , Septo Pelúcido/anormalidades , Septo Pelúcido/diagnóstico por imagem
9.
Neuropediatrics ; 53(4): 283-286, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-34844266

RESUMO

We report a patient affected by BCL11B-related disorder, providing the first extensive demonstration of clinical and neuroradiological progressive course of the disease, with possible implications on the way it is studied and followed-up. Never described clinical aspects such as toes abnormalities and hypospadias widen the range of dysmorphisms associated with this condition. Our data suggest that BCL11B mutations may be implicated not only in impaired morphogenesis and hematopoiesis but also in progressive central nervous system damage, which remains to be further investigated and clarified.


Assuntos
Mutação de Sentido Incorreto , Proteínas Supressoras de Tumor , Criança , Humanos , Masculino , Mutação , Proteínas Repressoras/genética , Fatores de Transcrição/genética , Proteínas Supressoras de Tumor/genética
10.
Fetal Diagn Ther ; 49(1-2): 36-40, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34969040

RESUMO

INTRODUCTION: Human cytomegalovirus (HCMV) is the most common congenital infection, especially severe after a maternal primary infection; sequelae in neonates born to mothers experiencing a nonprimary infection have been already reported. Hereby, two cases of severe fetal HCMV disease in seroimmune gravidas referred to our Unit are described. CASES PRESENTATION: Case 1: A fetus at 21 weeks' gestation with signs of anemia and brain abnormalities at ultrasound, described at magnetic resonance (MR) imaging as ependymal irregularity and bilateral asymmetric parenchymal thinning; amniotic fluid sample was positive for HCMV although the woman had a previous immunity; after termination of pregnancy, autopsy demonstrated a thicken layer of disorganized neurons on the right cortical plate, while on the left, there was a morphological pattern coherent with polymicrogyria. Case 2: A fetus at 20 weeks' gestation with anemia, moderate atrioventricular insufficiency, hepatosplenomegaly but no major cerebral lesions. Fetal blood was positive for HCMV, although unexpected for prepregnancy maternal immunity, and intrauterine transfusion was needed. A cesarean section at 34 weeks' gestation was performed due to worsening condition of the fetus, who had a birthweight of 2,210 g and needed platelet transfusions, but MR examination and clinical evaluation were normal. CONCLUSION: The impact of nonprimary maternal infection on pregnancy outcome is unknown and fetal brain damage in HCMV seroimmune transmitter-mothers can occur as a consequence of maternal reinfection or reactivation for a hypotetic different role of HCMV-primed CD4+ or CD8+ T-cells in fetal brain, with progressive brain lesions coexistent in the first case and with severe unexpected anemia in the second case. A previous maternal HCMV immunity should not exempt to test anemic fetuses for such infection, nor to consider a potential transplacental transmission.


Assuntos
Infecções por Citomegalovirus , Complicações Infecciosas na Gravidez , Cesárea , Citomegalovirus , Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/diagnóstico por imagem , Feminino , Feto , Humanos , Recém-Nascido , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico
11.
Neuroradiology ; 63(12): 2139-2148, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34021362

RESUMO

PURPOSE: To describe the correlation between fetal imaging (in vivo and ex vivo) and neuropathology in two fetuses at early gestational age (GA) with isolated thick corpus callosum (CC), a rare finding whose pathological significance and neuropathology data are scarce. METHODS: Two fetuses at 21-week GA underwent fetal MRI (fMRI) for suspected callosal anomalies at ultrasound (US). After fMRI results, termination of pregnancy (TOP) was carried out and post-mortem MRI (pmMRI) was performed. Neuropathology correlation consisted in macro and microscopic evaluation with sections prepared for hematoxylin-eosin and immunohistochemistry staining. RESULTS: Fetal imaging confirmed in both cases the presence of a shorter and thicker CC with respect to the reference standard at the same GA, without a clear distinction between its different parts. Moreover, on pmMRI, an abnormal slightly T2-weighted hyperintense layer along the superior and inferior surface of CC was noted in both cases. At histopathology, these findings corresponded to an increased amount of white matter tracts but also to an abnormal representation of embryological structures that contribute to CC development, naming induseum griseum (IG) and the glioepithelial layer (GL) of the "callosal sling." After reviewing the literature data, we confirmed the recent embryological theory regarding the CC development and provide new insights into the pathophysiology of the abnormal cases. CONCLUSIONS: An abnormally thick CC at the early fetal period could be associated to an abnormal representation of the midline glia structures, so to result in potential disturbance of the axon guidance mechanism of callosal formation and eventually in CC dysgenesis.


Assuntos
Corpo Caloso , Ultrassonografia Pré-Natal , Agenesia do Corpo Caloso/diagnóstico por imagem , Corpo Caloso/diagnóstico por imagem , Feminino , Feto/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Neuroimagem , Gravidez
12.
Neurogenetics ; 22(1): 27-32, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-32901329

RESUMO

The term PROS (PIK3CA-Related Overgrowth Spectrum) indicates a wide spectrum of overgrowth disorders related to somatic mutations in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) pathway. We present three cases with PIK3CA mutation and clinical characteristics encompassing MCAP (megalencephaly-capillary malformation) condition but lacking all criteria to a certain diagnosis, most of all showing prevalent and peculiar involvement of cerebellar structures at MRI (magnetic resonance imaging) mainly consisting in cortical rim thickening and abnormal orientation of folia axis. These cases expand the spectrum of intracranial MRI features in PIK3CA disorders.


Assuntos
Classe I de Fosfatidilinositol 3-Quinases/genética , Megalencefalia/genética , Mutação/genética , Malformações do Sistema Nervoso/genética , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Fenótipo
13.
Eur J Paediatr Neurol ; 28: 151-158, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32800686

RESUMO

INTRODUCTION: ECHS1 encodes for short-chain enoyl-CoA hydratase, a key component in b-oxidation. This enzyme is also involved in the isoleucine and valine catabolic pathways. The literature contains reports of scattered cases of ECHS1 mutation, which show a wide clinical spectrum of presentation. Despite that the clinical spectrum of the disease has not been defined so far due to the absence of previous systematic reviews and descriptions of large series of patients. METHODS: We performed a systematic literature review of so far reported ECHS1 mutated patients and we reported two additional cases. We pointed out clinical and neuroradiological features of all patients. RESULTS: 45 patients were included in the analysis. Based on clinical and neuroradiological feature we were able to distinguish four main phenotypes of ECHS1deficiency: a severe neonatal presentation with a rapid and fatal course and significant white matter abnormalities; a severe infantile variant with slower neurological deterioration, developmental delay, pyramidal and extrapyramidal signs, optic atrophy, feeding difficulties, and degeneration of the deep gray nuclei; a slowly progressive infantile form, qualitatively similar to the previous phenotype, but less severe with mainly basal ganglia involvement; and a final phenotype, present in only few cases, characterized by paroxysmal exercise-induced dystonic attacks, normal neurological examination between these episodes, and isolated pallidal degeneration on MRI. INTERPRETATION: ECHS1 mutations cause metabolic encephalopathy with a wide range of clinical presentations that can be grouped into four main phenotypes, each with a distinct profile in terms of severity on clinical presentation, disease course and MRI involvement.


Assuntos
Encefalopatias Metabólicas/genética , Encefalopatias Metabólicas/patologia , Encefalopatias Metabólicas/fisiopatologia , Enoil-CoA Hidratase/deficiência , Enoil-CoA Hidratase/genética , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Mutação , Fenótipo
14.
Childs Nerv Syst ; 35(7): 1117-1128, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31062139

RESUMO

OBJECTIVE: The purpose of the paper is to examine the current state of the art about epidemiology, diagnosis, and treatment of this infection. METHODS: A review of the literature was performed through a PubMed search of original articles, case reports, and reviews using the key words "brain abscess," "cerebral abscess," "brain infection," "intracranial suppuration," "otogenic brain abscess," "otitis complications," and "sinusitis complications." RESULTS: Pediatric brain abscess is a rare but serious infection, often involving patients with specific risk factors and burdened by a high risk of morbidity and mortality. Brain abscess incidence and mortality decreased over the years, thanks to improved antibiotic therapy, new neurosurgical techniques, and the wide spread of vaccinations. There are no guidelines for the adequate diagnostic-therapeutic pathway in the management of brain abscesses; therefore, conflicting data emerge from the literature. In the future, multicentric prospective studies should be performed in order to obtain stronger evidences about brain abscesses management. Over the next few years, changes in epidemiology could be observed because of risk factors changes.


Assuntos
Antibacterianos/uso terapêutico , Abscesso Encefálico/diagnóstico , Abscesso Encefálico/terapia , Procedimentos Neurocirúrgicos , Abscesso Encefálico/diagnóstico por imagem , Criança , Humanos , Neuroimagem
15.
Eur Radiol ; 29(6): 2740-2750, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30542750

RESUMO

BACKGROUND AND PURPOSE: Fetal postmortem MR Imaging (pmMRI) has been recently used as an adjuvant tool to conventional brain autopsy after termination of pregnancy (TOP). Our purpose was to compare the diagnostic performance of intrauterine MRI (iuMRI) and pmMRI in the detection of brain anomalies in fetuses at early gestational age (GA). MATERIAL AND METHODS: We retrospectively collected 53 fetuses who had undergone iuMRI and pmMRI for suspected brain anomalies. Two pediatric neuroradiologists reviewed iuMRI and pmMRI examinations separately and then together. We used Cohen's K to assess the agreement between pmMRI and iuMRI. Using the combined evaluation iuMRI+pMRI as the reference standard, we calculated the "correctness ratio." We used Somers' D to assess the cograduation between postmortem image quality and time elapsed after fetus expulsion. RESULTS: Our data showed high agreement between iuMRI and pmMRI considering all the categories together, for both observers (K1 0.84; K2 0.86). The correctness ratio of iuMRI and pmMRI was 79% and 45% respectively. The major disagreements between iuMRI and pmMRI were related to postmortem changes as the collapse of liquoral structures and distorting phenomena. We also found a significant cograduation between the time elapsed from expulsion and pmMRI contrast resolution and distortive phenomena (both p < 0.001). CONCLUSIONS: Our study demonstrates an overall high concordance between iuMRI and pmMRI in detecting fetal brain abnormalities at early GA. Nevertheless, for the correct interpretation of pmMRI, the revision of fetal examination seems to be crucial, in particular when time elapsed from expulsion is longer than 24 h. KEY POINTS: • IuMRI and pmMRI showed overall high concordance in detecting fetal brain abnormalities at early GA. • PmMRI corroborated the antemortem diagnosis and it could be a valid alternative to conventional brain autopsy, only when the latter cannot be performed. • Some caution should be taken in interpreting pmMR images when performed after 24 h from fetal death.


Assuntos
Aborto Induzido , Encefalopatias/diagnóstico , Encéfalo/anormalidades , Doenças Fetais/diagnóstico , Feto/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Diagnóstico Pré-Natal/métodos , Encéfalo/diagnóstico por imagem , Encefalopatias/embriologia , Feminino , Morte Fetal , Idade Gestacional , Humanos , Gravidez , Curva ROC , Estudos Retrospectivos
16.
Radiology ; 288(2): 582-590, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29688161

RESUMO

Purpose To describe and classify the range of brain injuries present at prenatal, in-utero magnetic resonance (MR) imaging in co-twin survivors of monochorionic (MC) twin pregnancies complicated by single intrauterine death (SIUD). Materials and Methods This retrospective, observational study from six tertiary fetal medicine centers that perform tertiary-level prenatal in-utero MR studies reviewed cases in which prenatal in-utero MR imaging had shown a brain injury in a surviving co-twin of a twin pregnancy with a MC component complicated by SIUD. Results Forty-two surviving MC twins were described. The primary distinction of brain abnormalities was into nonfocal and focal lesions. The nonfocal lesions included periventricular leukomalacia (group 1; two fetuses), generalized encephalomalacia (group 2; nine fetuses), posterior encephalomalacia (group 3; seven fetuses), and bilateral parasagittal and perisylvian injury (group 4; three fetuses). The focal lesions included nonhemorrhagic lesions (group 5; 14 fetuses) and hemorrhagic lesions (group 6; seven fetuses). Focal brain lesions were more likely to be found in the surviving MC pregnancies complicated by twin-twin transfusion syndrome (TTTS) (odds ratio, 2.4; 95% confidence interval: 1.3, 18.5; P = .01) and in fetuses that underwent an obstetric intervention (odds ratio, 2.8; 95% confidence interval: 1.8, 23.6; P = .006). Conclusion Brain injury of the surviving co-twin after SIUD in MC pregnancies is usually of ischemic origin and spares the brainstem and cerebellum. Focal brain lesions are more frequent in pregnancies complicated by TTTS or in those where an intervention has been performed.


Assuntos
Encefalopatias/diagnóstico por imagem , Morte Fetal , Imageamento por Ressonância Magnética/métodos , Diagnóstico Pré-Natal/métodos , Sobreviventes , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Encefalopatias/complicações , Encefalopatias/patologia , Inglaterra , Feminino , Transfusão Feto-Fetal/complicações , Humanos , Itália , Gravidez , Gravidez de Gêmeos , Estudos Retrospectivos , Gêmeos Monozigóticos
17.
J Comput Assist Tomogr ; 42(3): 487-491, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29287023

RESUMO

OBJECTIVE: To evaluate single-shot (ss) FLAIR sequence in the detection of intraventricular anomalies in a series of fetuses showing mild-moderate ventriculomegaly at ultrasound. SUBJECTS AND METHODS: Fetuses with mild-moderate isolated ventriculomegaly, which underwent MR imaging between 2003 and 2014 were considered eligible. Fetuses were examined by standard MR protocol and ss-FLAIR sequence, tailored for snapshot imaging. Two paediatric neuroradiologists evaluated MR images. RESULTS: 542 cases were selected. MR imaging was performed at mean 26 weeks of gestation. ss-FLAIR sequence detected intraventricular findings, consistent with cysts in 10 cases. In 3/10 intraventricular cysts were also evident on ss-FSE T2 and FSE T1-weighted images. In no case diffusion weighted imaging was able to detect cyst. No cyst was highlighted on ss-FSE-T2 and FSE-T1-weighted images, without being visible also on ss-FLAIR. CONCLUSION: ss-FLAIR sequence may be useful to detect intraventricular anomalies especially when fetal position or maternal obesity prevents adequate visualization by ultrasound.


Assuntos
Ventrículos Cerebrais/diagnóstico por imagem , Ventrículos Cerebrais/embriologia , Hidrocefalia/diagnóstico por imagem , Processamento de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética/métodos , Diagnóstico Pré-Natal/métodos , Ventrículos Cerebrais/anormalidades , Feminino , Humanos , Gravidez , Estudos Retrospectivos
19.
Eur Radiol ; 26(8): 2685-96, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26474987

RESUMO

OBJECTIVE: Prenatal features of isolated cerebellar haemorrhagic lesions have not been sufficiently characterised. We aimed to better define their MR imaging characteristics, documenting the location, extension, evolution stage and anatomic sequelae, and to better understand cerebellar haemorrhage pathophysiology. MATERIALS AND METHODS: We screened our foetal MR imaging database (3200 cases) for reports of haemorrhagic lesions affecting only the cerebellum (without any supratentorial bleeding or other clastic lesions), defined as one of the following: T2-weighted hypointense or mixed hypo-/hyperintense signal; rim of T2-weighted hypointense signal covering the surface of volume-reduced parenchyma; T1-weighted hyperintense signal; increased DWI signal. RESULTS: Seventeen cases corresponded to the selection criteria. All lesions occurred before the 26th week of gestation, with prevalent origin from the peripheral-caudal portion of the hemispheres and equal frequency of unilateral/bilateral involvement. The caudal vermis appeared affected in 2/3 of cases, not in all cases confirmed postnatally. Lesions evolved towards malformed cerebellar foliation. The aetiology and pathophysiology were unknown, although in a subset of cases intra- and extracranial venous engorgement seemed to play a key role. CONCLUSIONS: Onset from the peripheral and caudal portion of the hemispheres seems characteristic of prenatal cerebellar haemorrhagic lesions. Elective involvement of the peripheral germinal matrix is hypothesised. KEY POINTS: • The cerebellum can be vulnerable to bleeding during foetal development. • Isolated cerebellar haemorrhages can be seen on prenatal MRI. • In our cohort, isolated foetal cerebellar haemorrhages occurred before the 26th gestational week. • Haemorrhagic lesions happening in utero could look like malformations on post-natal MRI. • Venous engorgement could have a role in causing cerebellar haemorrhagic lesions.


Assuntos
Doenças Cerebelares/diagnóstico por imagem , Doenças Fetais/diagnóstico por imagem , Hemorragias Intracranianas/diagnóstico por imagem , Adolescente , Adulto , Imagem de Difusão por Ressonância Magnética , Feminino , Idade Gestacional , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Gravidez , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA