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1.
Neuroradiology ; 66(7): 1213-1223, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38720066

RESUMEN

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.


Asunto(s)
Transfusión Feto-Fetal , Imagen por Resonancia Magnética , Humanos , Femenino , Embarazo , Imagen por Resonancia Magnética/métodos , Estudios Retrospectivos , Transfusión Feto-Fetal/diagnóstico por imagen , Transfusión Feto-Fetal/complicaciones , Adulto , Embarazo Gemelar , Diagnóstico Prenatal/métodos , Policitemia/diagnóstico por imagen , Anemia/diagnóstico por imagen
2.
Cerebellum ; 22(5): 1023-1025, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-35962274

RESUMEN

Pontocerebellar-hypoplasia (PCH) related to TSEN54-gene mutation, a rare autosomal recessive disorder, can be associated with three different phenotypes: PCH2A, PCH4 and PCH5. Prenatal imaging features are very scant, in particular for PCH4 and PCH5. The aim of this letter is to illustrate key role of prenatal MR imaging in better evaluation of the cerebellar vermis-hemispheres and pons, which may lead to the differential diagnosis between three PCH TSEN54-related phenotypes already at mid-gestation based on the pattern of the degree of involvement of the vermis and the cerebellar cortex respectively.


Asunto(s)
Enfermedades Cerebelosas , Malformaciones del Sistema Nervioso , Atrofias Olivopontocerebelosas , Embarazo , Femenino , Humanos , Cerebelo/diagnóstico por imagen , Cerebelo/anomalías , Atrofias Olivopontocerebelosas/diagnóstico , Atrofias Olivopontocerebelosas/genética , Malformaciones del Sistema Nervioso/diagnóstico , Imagen por Resonancia Magnética , Endorribonucleasas/genética
3.
Neuroradiology ; 65(12): 1813-1823, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37910190

RESUMEN

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.


Asunto(s)
Feto , Diagnóstico Prenatal , Embarazo , Femenino , Humanos , Edad Gestacional , Diagnóstico Prenatal/métodos , Imagen por Resonancia Magnética/métodos
4.
Neuropediatrics ; 53(1): 26-31, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34404097

RESUMEN

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.


Asunto(s)
Tabique Pelúcido , Ultrasonografía Prenatal , Niño , Femenino , Feto , Humanos , Imagen por Resonancia Magnética/métodos , Embarazo , Diagnóstico Prenatal/métodos , Tabique Pelúcido/anomalías , Tabique Pelúcido/diagnóstico por imagen
5.
Fetal Diagn Ther ; 49(1-2): 36-40, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34969040

RESUMEN

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.


Asunto(s)
Infecciones por Citomegalovirus , Complicaciones Infecciosas del Embarazo , Cesárea , Citomegalovirus , Infecciones por Citomegalovirus/complicaciones , Infecciones por Citomegalovirus/diagnóstico por imagen , Femenino , Feto , Humanos , Recién Nacido , Embarazo , Complicaciones Infecciosas del Embarazo/diagnóstico
6.
Neurogenetics ; 22(1): 27-32, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-32901329

RESUMEN

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.


Asunto(s)
Fosfatidilinositol 3-Quinasa Clase I/genética , Megalencefalia/genética , Mutación/genética , Malformaciones del Sistema Nervioso/genética , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Fenotipo
7.
Neuroradiology ; 63(12): 2139-2148, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34021362

RESUMEN

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.


Asunto(s)
Cuerpo Calloso , Ultrasonografía Prenatal , Agenesia del Cuerpo Calloso/diagnóstico por imagen , Cuerpo Calloso/diagnóstico por imagen , Femenino , Feto/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Neuroimagen , Embarazo
8.
Metab Brain Dis ; 36(5): 859-863, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33721182

RESUMEN

Aicardi-Goutières Syndrome (AGS) is a monogenic leukodystrophy with pediatric onset, clinically characterized by a variable degree of neurologic impairment. It belongs to a group of condition called type I interferonopathies that are characterized by abnormal overproduction of interferon alpha, an inflammatory cytokine which action is mediated by the activation of two of the four human Janus Kinases. Thanks to an ever-increasing knowledge of the molecular basis and pathogenetic mechanisms of the disease, Janus Kinase inhibitors (JAKIs) have been proposed as a treatment option for selected interferonopathies. Here we reported the 24 months follow-up of the fifth AGS patient treated with ruxolitinib described so far in literature. The treatment was globally well tolerated; clinical examinations and radiological images demonstrated a progressively improving course. It is however to note that patients presenting with mild and spontaneously improving course have been reported. Large natural history studies on AGS spectrum are strongly required in order to get a better understanding of the results emerging from ongoing therapeutic trials on such rare disease.


Asunto(s)
Enfermedades Autoinmunes del Sistema Nervioso/tratamiento farmacológico , Encéfalo/diagnóstico por imagen , Malformaciones del Sistema Nervioso/tratamiento farmacológico , Nitrilos/uso terapéutico , Pirazoles/uso terapéutico , Pirimidinas/uso terapéutico , Enfermedades Autoinmunes del Sistema Nervioso/diagnóstico por imagen , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Malformaciones del Sistema Nervioso/diagnóstico por imagen , Resultado del Tratamiento
9.
Eur Radiol ; 30(4): 2161-2170, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-31900695

RESUMEN

OBJECTIVES: We investigated whether prenatal magnetic resonance imaging (MRI) within 26 weeks of gestation (GW) may predict the fate of isolated upward rotation of the cerebellar vermis (URCV). METHODS: This retrospective multicentre observational study included foetuses diagnosed with isolated URCV in prenatal MRI performed within 26 GW. Isolated URCV was defined by a brainstem-vermis angle (BVA) ≥ 12° in the MR midline sagittal view without abnormalities of the supratentorial structures, brainstem, or cerebellum hemispheres. The assessments included the BVA, clival-supraoccipital angle, transverse diameter of the posterior cranial fossa, tentorial angle, width of the cisterna magna (WCM), ventricular width, vermian diameters, hypointense stripes, and cerebellar tail sign. Late prenatal or postnatal MRI was used as a reference standard to assess the final vermian fate (rotated/de-rotated). RESULTS: Forty-five foetuses (mean GW at prenatal MRI = 21.5 ± 1.4 weeks) were included. In the reference standard, the vermis was de-rotated in 26 cases (57.7%). At least two of the following criteria were used to predict the persistence of URCV at imaging follow-up: BVA ≥ 23°, WCM ≥ 9 mm, and the cerebellar tail sign. The results were a sensitivity of 84.21% (95% CI, 60.4-96.6%), specificity of 80.8% (95% CI, 60.6-93.4%), positive predictive value of 76% (95% CI, 58.7-87.8%), and negative predictive value of 87.5% (95% CI, 70.9-95.2%). CONCLUSIONS: MRI within 26 GW on foetuses diagnosed with isolated URCV may predict delayed cerebellar vermis de-rotation, which is associated with good neurodevelopmental outcome in most cases. KEY POINTS: • Foetal MRI is a valuable tool in predicting the fate of isolated upward-rotated cerebellar vermis. • A wider angle between the brainstem and vermis is associated with higher risk of persistence of vermian rotation. • The presence of ≥ 2 factors among a brainstem-to-vermis angle ≥ 23°, width of the cisterna magna ≥ 9 mm, and the presence of the "cerebellar tail sign" has a sensitivity of 84.21% (95% CI, 60.4-96.6%) and specificity of 80.8% (95% CI, 60.6-93.4%) in predicting the persistence of the vermian rotation at imaging follow-up.


Asunto(s)
Vermis Cerebeloso/diagnóstico por imagen , Edad Gestacional , Anomalía Torsional/diagnóstico por imagen , Tronco Encefálico , Vermis Cerebeloso/anomalías , Vermis Cerebeloso/embriología , Cerebelo/diagnóstico por imagen , Fosa Craneal Posterior , Diagnóstico Diferencial , Femenino , Feto , Humanos , Imagen por Resonancia Magnética/métodos , Embarazo , Diagnóstico Prenatal , Remisión Espontánea , Estudios Retrospectivos , Sensibilidad y Especificidad , Anomalía Torsional/embriología
10.
Fetal Diagn Ther ; 47(1): 66-73, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31220847

RESUMEN

OBJECTIVES: To evaluate incidence of cerebral injury and outcome in a large series of monochorionic (MC) twin survivors after spontaneous single fetal demise. METHODS: Retrospective analysis of all MC pregnancies with single fetal demise diagnosed at, or referred to, the Fetal Therapy Unit "U. Nicolini," V. Buzzi Children's Hospital, Milan, Italy, from 2004 to 2015. Survivors evaluation protocol included detailed ultrasound (US) of intracranial anatomy, Doppler investigation of peak systolic velocity in the middle cerebral artery (MCA-PSV), and magnetic resonance (MR). Data were collected on pregnancy characteristics, postnatal brain scan, and MR and neurological follow-up. RESULTS: Seventy-eight consecutive MC pregnancies were analyzed. Median gestational age (GA) at single fetal demise was 22 weeks (range 15-36); median interval between single demise and live birth was 105 days (range 1-175), with a median GA at birth of 36 weeks (range 23-41). Prenatal MR was performed in 57 of 78 cases (73%). Cerebral injury affected 14/78 (18%) co-twins, 2 of whom were born immediately after single demise, with postnatal diagnosis of cerebral injury; of the other 12 fetuses that were studied before birth, 10 had a prenatal diagnosis of lesion both with US and MR, one only with MR, and in one case, a grade III intraventricular hemorrhage was reported only after delivery, which occurred at 25 weeks, 5 weeks after the single demise. Signs of fetal anemia (MCA-PSV value above 1.55 MoM) were related to a higher risk of prenatal cerebral injury; cases with postnatal diagnosis of lesion were delivered at lower GA. CONCLUSIONS: Cerebral injury affects 18% of co-twin survivors after single fetal demise in MC twin pregnancies, and evaluation and follow-up of these cases can improve detection rate of such damage.


Asunto(s)
Lesiones Encefálicas/epidemiología , Muerte Fetal , Enfermedades Fetales/epidemiología , Embarazo Gemelar , Lesiones Encefálicas/diagnóstico por imagen , Femenino , Enfermedades Fetales/diagnóstico por imagen , Humanos , Incidencia , Italia/epidemiología , Embarazo , Estudios Retrospectivos , Factores de Riesgo , Ultrasonografía Prenatal
11.
Mol Genet Metab ; 126(4): 489-494, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30826161

RESUMEN

BACKGROUND: Aicardi-Goutières syndrome (AGS) is a rare genetic leukoencephalopathy related to inappropriate activation of type I interferon. Neuroradiological findings are typically characterized by white matter abnormalities, cerebral atrophy and cerebral calcification. The disease usually manifests itself during the first year of life in the form of an initial "encephalitic-like" phase followed by a chronic phase of stabilization of the neurological signs. Recently new therapeutic strategies have been proposed aimed at blocking the abnormal activation of the interferon cascade. MATERIALS AND METHODS: We reviewed clinical and MRI findings in three young RNASEH2B-mutated patients studied with serial CT and MRI studies. RESULTS: All three patients presented clinical and MRI features consistent with AGS but, very unexpectedly, an improving neuroradiological course. In patient 1, the MRI improvement was noted some months after treatment with high-dose steroid and IVIg treatment; in patients 2 and 3 it occurred spontaneously. Patient 2 did not show cerebral calcification on CT images. CONCLUSIONS: Our series highlights the possibility of spontaneous neuroradiological improvement in AGS2 patients, as well as the possibility of absence of cerebral calcification in AGS. The study underlines the need for extreme caution when using MRI as an outcome measure in therapeutic trials specific for this disease. MRI follow-up studies in larger series are necessary to describe the natural course of AGS.


Asunto(s)
Enfermedades Autoinmunes del Sistema Nervioso/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Calcinosis , Malformaciones del Sistema Nervioso/diagnóstico por imagen , Enfermedades Autoinmunes del Sistema Nervioso/genética , Encéfalo/patología , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Masculino , Mutación , Malformaciones del Sistema Nervioso/genética , Neuroimagen , Ribonucleasa H/genética , Tomografía Computarizada por Rayos X
12.
Eur Radiol ; 29(6): 2740-2750, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30542750

RESUMEN

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.


Asunto(s)
Aborto Inducido , Encefalopatías/diagnóstico , Encéfalo/anomalías , Enfermedades Fetales/diagnóstico , Feto/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Diagnóstico Prenatal/métodos , Encéfalo/diagnóstico por imagen , Encefalopatías/embriología , Femenino , Muerte Fetal , Edad Gestacional , Humanos , Embarazo , Curva ROC , Estudios Retrospectivos
13.
J Comput Assist Tomogr ; 42(3): 487-491, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29287023

RESUMEN

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.


Asunto(s)
Ventrículos Cerebrales/diagnóstico por imagen , Ventrículos Cerebrales/embriología , Hidrocefalia/diagnóstico por imagen , Procesamiento de Imagen Asistido por Computador/métodos , Imagen por Resonancia Magnética/métodos , Diagnóstico Prenatal/métodos , Ventrículos Cerebrales/anomalías , Femenino , Humanos , Embarazo , Estudios Retrospectivos
14.
Neuropediatrics ; 48(2): 104-107, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-27880967

RESUMEN

Cervical abortive myelocistocele is a very rare congenital malformation. In this case report, we describe the prenatal magnetic resonance imaging (MRI) of such entity in a 20-week gestational age fetus, whose imaging features showed to be different from the only other previous prenatal report. We underscored the value of fetal MR for counseling and prognosis, especially when assessing the integrity of the spinal cord.


Asunto(s)
Imagen por Resonancia Magnética/métodos , Meningomielocele/diagnóstico por imagen , Diagnóstico Prenatal/métodos , Médula Espinal/diagnóstico por imagen , Médula Espinal/embriología , Femenino , Humanos , Embarazo , Segundo Trimestre del Embarazo , Adulto Joven
15.
Neuroradiology ; 58(5): 513-20, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-26847705

RESUMEN

INTRODUCTION: Functional MRI (fMRI) can assess language lateralization in brain tumor patients; however, this can be limited if the primary language area-Broca's area (BA)-is affected by the tumor. We hypothesized that the middle frontal gyrus (MFG) can be used as a clinical indicator of hemispheric dominance for language during presurgical workup. METHODS: Fifty-two right-handed subjects with solitary left-hemispheric primary brain tumors were retrospectively studied. Subjects performed a verbal fluency task during fMRI. The MFG was compared to BA for fMRI voxel activation, language laterality index (LI), and the effect of tumor grade on the LI. RESULTS: Language fMRI (verbal fluency) activated more voxels in MFG than in BA (MFG = 315, BA = 216, p < 0.001). Voxel activations in the left-hemispheric MFG and BA were positively correlated (r = 0.69, p < 0.001). Mean LI in the MFG was comparable to that in BA (MFG = 0.48, BA = 0.39, p = 0.06). LIs in MFG and BA were positively correlated (r = 0.62, p < 0.001). Subjects with high-grade tumors demonstrate lower language lateralization than those with low-grade tumors in both BA and MFG (p = 0.02, p = 0.02, respectively). CONCLUSION: MFG is comparable to BA in its ability to indicate hemispheric dominance for language using a measure of verbal fluency and may be an adjunct measure in the clinical determination of language laterality for presurgical planning.


Asunto(s)
Mapeo Encefálico/métodos , Neoplasias Encefálicas/fisiopatología , Área de Broca/fisiopatología , Dominancia Cerebral , Lenguaje , Imagen por Resonancia Magnética/métodos , Corteza Prefrontal/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Red Nerviosa/fisiopatología
16.
Neuroradiology ; 58(3): 293-300, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26608601

RESUMEN

INTRODUCTION: Ganglionic eminence (GE) is a transient fetal brain structure that harvests a significant amount of precursors of cortical GABA-ergic interneurons. Prenatal magnetic resonance (MR) imaging features of GE anomalies (i.e., cavitations) have already been reported associated with severe micro-lissencephaly. The purpose of this report was to illustrate the MR imaging features of GE anomalies in conditions other than severe micro-lissencephalies. METHODS: Among all the fetuses submitted to prenatal MR imaging at our center from 2005 to 2014, we collected eight cases with GE anomalies and only limited associated brain anomalies. The median gestational age at the time of MR imaging was 21 weeks ranging from 19 to 29 weeks. Two senior pediatric neuroradiologists categorized the anomalies of the GE region in two groups: group one showing cavitation in the GE region and group two showing enlarged GE region. For each fetal case, associated cranial anomalies were also reported. RESULTS: Five out of the eight cases were included in group one and three in group two. Besides the GE region abnormality, all eight cases had additional intracranial anomalies, such as mild partial callosal agenesis, vermian hypoplasia and rotation, cerebellar hypoplasia, ventriculomegaly, enlarged subarachnoid spaces, molar tooth malformation. Ultrasound generally detected most of the associated intracranial anomalies, prompting the MR investigation; on the contrary in none of the cases, GE anomalies had been detected by ultrasound. CONCLUSIONS: Our observation expands the spectrum of human GE anomalies, demonstrating that these may take place also without associated severe micro-lissencephalies.


Asunto(s)
Lisencefalia/patología , Imagen por Resonancia Magnética/métodos , Eminencia Media/anomalías , Eminencia Media/diagnóstico por imagen , Diagnóstico Prenatal/métodos , Diagnóstico Diferencial , Femenino , Humanos , Aumento de la Imagen/métodos , Lisencefalia/diagnóstico por imagen , Masculino , Eminencia Media/patología , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
17.
Neuropediatrics ; 46(6): 416-9, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26479763

RESUMEN

Rhombencephalosynapsis is a hindbrain malformation characterized by complete or partial absence of the cerebellar vermis, with varying degrees of midline continuity of cerebellar hemispheres, dentate nuclei, and in some patients of the superior cerebellar peduncles. Partial rhombencephalosynapsis usually consists of a segmental deficiency of posterior vermis. Although prenatal diagnosis of rhombencephalosynapsis is feasible by ultrasound and magnetic resonance imaging both, partial rhombencephalosynapsis might be difficult to detect, especially at an early gestational age. We report two fetal cases of atypical partial rhombencephalosynapsis, with deficiency of anterior vermis, detected by prenatal magnetic resonance imaging at 21st and 23rd week of gestation, respectively.


Asunto(s)
Enfermedades Cerebelosas/diagnóstico , Vermis Cerebeloso/patología , Imagen por Resonancia Magnética/métodos , Diagnóstico Prenatal , Adulto , Enfermedades Cerebelosas/patología , Femenino , Enfermedades Fetales/diagnóstico , Humanos , Masculino , Malformaciones del Sistema Nervioso/patología , Embarazo , Complicaciones del Embarazo
18.
Radiol Med ; 120(5): 474-82, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25572537

RESUMEN

PURPOSE: Olivary degeneration is due to many posterior cranial fossa (PCF) lesions affecting the dentato-rubro-olivary pathway, also known as Guillain-Mollaret triangle. Triangle damage results in hyperexcitation and consequently in hypertrophy of the inferior olivary nucleus (ION). The aim of our study was to evaluate the incidence of magnetic resonance (MR) imaging changes in the ION after surgery in a large cohort of paediatric patients and to determine their correlation with tumour grade. MATERIALS AND METHODS: We retrospectively evaluated 58 patients treated surgically for PCF tumours who underwent MR imaging between 2007 and 2014, 1 week to 5 years after surgery. Histopathology revealed 29 medulloblastomas (WHO IV), 6 ependymomas (WHO II), 2 anaplastic ependymomas (WHO III) and 21 pilocytic astrocytomas (WHO I). ION MR imaging changes were correlated with surgery-to-MR interval and with tumour grading. RESULTS: ION MR imaging changes were observed in 19/64 (33 %), and all consisted of T2 signal alterations, 15 bilateral and four unilateral, with dentate nucleus damage in all cases. Olivary enlargement was observed in few cases only (7/19). ION T2 hyperintensity was always present between 1 and 6 months after surgery with a trend to decrease, becoming faint after 1 year. The Fisher test demonstrated a significant (p = 0.005) correlation between ION MR imaging changes and high tumour grade. CONCLUSIONS: Our results demonstrate that olivary degeneration, with or without hypertrophy, is a relatively frequent consequence of posterior fossa surgery, particularly in children treated for high-grade tumours. Knowledge of this condition can prevent misdiagnoses and unnecessary investigations.


Asunto(s)
Neoplasias Encefálicas/patología , Neoplasias Encefálicas/cirugía , Neoplasias Infratentoriales/patología , Neoplasias Infratentoriales/cirugía , Imagen por Resonancia Magnética/métodos , Núcleo Olivar/patología , Adolescente , Niño , Femenino , Humanos , Hipertrofia , Incidencia , Masculino , Clasificación del Tumor , Estudios Retrospectivos , Resultado del Tratamiento
19.
World J Pediatr ; 20(8): 747-763, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38935233

RESUMEN

BACKGROUND: The study of central nervous system (CNS) tumors is particularly relevant in the pediatric population because of their relatively high frequency in this demographic and the significant impact on disease- and treatment-related morbidity and mortality. While both morphological and non-morphological magnetic resonance imaging techniques can give important information concerning tumor characterization, grading, and patient prognosis, increasing evidence in recent years has highlighted the need for personalized treatment and the development of quantitative imaging parameters that can predict the nature of the lesion and its possible evolution. For this purpose, radiomics and the use of artificial intelligence software, aimed at obtaining valuable data from images beyond mere visual observation, are gaining increasing importance. This brief review illustrates the current state of the art of this new imaging approach and its contributions to understanding CNS tumors in children. DATA SOURCES: We searched the PubMed, Scopus, and Web of Science databases using the following key search terms: ("radiomics" AND/OR "artificial intelligence") AND ("pediatric AND brain tumors"). Basic and clinical research literature related to the above key research terms, i.e., studies assessing the key factors, challenges, or problems of using radiomics and artificial intelligence in pediatric brain tumors management, was collected. RESULTS: A total of 63 articles were included. The included ones were published between 2008 and 2024. Central nervous tumors are crucial in pediatrics due to their high frequency and impact on disease and treatment. MRI serves as the cornerstone of neuroimaging, providing cellular, vascular, and functional information in addition to morphological features for brain malignancies. Radiomics can provide a quantitative approach to medical imaging analysis, aimed at increasing the information obtainable from the pixels/voxel grey-level values and their interrelationships. The "radiomic workflow" involves a series of iterative steps for reproducible and consistent extraction of imaging data. These steps include image acquisition for tumor segmentation, feature extraction, and feature selection. Finally, the selected features, via training predictive model (CNN), are used to test the final model. CONCLUSIONS: In the field of personalized medicine, the application of radiomics and artificial intelligence (AI) algorithms brings up new and significant possibilities. Neuroimaging yields enormous amounts of data that are significantly more than what can be gained from visual studies that radiologists can undertake on their own. Thus, new partnerships with other specialized experts, such as big data analysts and AI specialists, are desperately needed. We believe that radiomics and AI algorithms have the potential to move beyond their restricted use in research to clinical applications in the diagnosis, treatment, and follow-up of pediatric patients with brain tumors, despite the limitations set out.


Asunto(s)
Inteligencia Artificial , Neoplasias Encefálicas , Imagen por Resonancia Magnética , Humanos , Neoplasias Encefálicas/diagnóstico por imagen , Niño , Imagen por Resonancia Magnética/métodos , Neuroimagen/métodos , Radiómica
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