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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.
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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 imagenRESUMEN
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.
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Quiste Epidérmico , Imagen por Resonancia Magnética , Remisión Espontánea , Humanos , Quiste Epidérmico/cirugía , Quiste Epidérmico/diagnóstico por imagen , Quiste Epidérmico/patología , NiñoRESUMEN
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.
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ARN de Transferencia , Pez Cebra , Animales , Humanos , Mutación , Pez Cebra/genética , Diana Mecanicista del Complejo 1 de la Rapamicina , Ligasas , FenotipoRESUMEN
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.
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Feto , Diagnóstico Prenatal , Embarazo , Femenino , Humanos , Edad Gestacional , Diagnóstico Prenatal/métodos , Imagen por Resonancia Magnética/métodosRESUMEN
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.
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Ataxia Cerebelosa , Enfermedades del Sistema Nervioso Periférico , Humanos , Diagnóstico Diferencial , Ataxia/diagnóstico , Ataxia/genética , Ataxia Cerebelosa/diagnóstico , Mutación , Enfermedades del Sistema Nervioso Periférico/diagnóstico , Enfermedades del Sistema Nervioso Periférico/genética , FenotipoRESUMEN
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.
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Mutación Missense , Proteínas Supresoras de Tumor , Niño , Humanos , Masculino , Mutación , Proteínas Represoras/genética , Factores de Transcripción/genética , Proteínas Supresoras de Tumor/genéticaRESUMEN
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.
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Tabique Pelúcido , Ultrasonografía Prenatal , Niño , Femenino , Feto , Humanos , Imagen por Resonancia Magnética/métodos , Embarazo , Diagnóstico Prenatal/métodos , Tabique Pelúcido/anomalías , Tabique Pelúcido/diagnóstico por imagenRESUMEN
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.
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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/diagnósticoRESUMEN
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.
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Fosfatidilinositol 3-Quinasa Clase I/genética , Megalencefalia/genética , Mutación/genética , Malformaciones del Sistema Nervioso/genética , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , FenotipoRESUMEN
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.
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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 , EmbarazoRESUMEN
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.
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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 RetrospectivosRESUMEN
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.
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Antibacterianos/uso terapéutico , Absceso Encefálico/diagnóstico , Absceso Encefálico/terapia , Procedimientos Neuroquirúrgicos , Absceso Encefálico/diagnóstico por imagen , Niño , Humanos , NeuroimagenRESUMEN
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.
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Encefalopatías/diagnóstico por imagen , Muerte Fetal , Imagen por Resonancia Magnética/métodos , Diagnóstico Prenatal/métodos , Sobrevivientes , Adulto , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Encefalopatías/complicaciones , Encefalopatías/patología , Inglaterra , Femenino , Transfusión Feto-Fetal/complicaciones , Humanos , Italia , Embarazo , Embarazo Gemelar , Estudios Retrospectivos , Gemelos MonocigóticosRESUMEN
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.
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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 RetrospectivosRESUMEN
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.
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Enfermedades Cerebelosas/diagnóstico por imagen , Enfermedades Fetales/diagnóstico por imagen , Hemorragias Intracraneales/diagnóstico por imagen , Adolescente , Adulto , Imagen de Difusión por Resonancia Magnética , Femenino , Edad Gestacional , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Embarazo , Segundo Trimestre del Embarazo , Diagnóstico Prenatal , Estudios RetrospectivosRESUMEN
Hypochondroplasia (HCH) is a genetic skeletal dysplasia, inherited in an autosomal dominant fashion. About 50-70% of HCH patients have a mutation in FGFR3 gene and in the majority of cases it is a de novo mutation. Recent magnetic resonance imaging studies on relative large cohorts of HCH patients have showed a central nervous system involvement with a high incidence of characteristic temporal lobe and hippocampal abnormalities. To the best of our knowledge, this report shows the first magnetic resonance imaging prenatal detection of characteristic brain anomalies in a case of HCH, molecularly confirmed through postnatal FGFR3 analysis.
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Huesos/anomalías , Enanismo/patología , Hipocampo/patología , Deformidades Congénitas de las Extremidades/patología , Lordosis/patología , Imagen por Resonancia Magnética , Diagnóstico Prenatal , Lóbulo Temporal/patología , Adulto , Huesos/patología , Femenino , Humanos , EmbarazoRESUMEN
BACKGROUND: Since the initial description of glucose transporter-1 deficiency syndrome (Glut1-DS) the phenotype of the condition has expanded, even leading to the recognition of atypical manifestations. We report on eight patients with Glut1-DS who experienced at least one episode of acute focal neurological deficits. METHODS: We conducted a retrospective analysis, collecting clinical, electrophysiological, neuroradiological, and genetic information. We focused in particular on three well-documented cases. RESULTS: Among 42 patients with Glut1-DS, eight individuals aged between six and 38 years presented with an acute onset of neurological disturbances: dysarthria/aphasia, oral dyskinesia, swallowing difficulties, paresthesia, facial palsy, hemi/monoplegia, vomiting, headache, and behavioral disturbances. When performed, magnetic resonance imaging (MRI) revealed signs of venous congestion and hypoperfusion and electroencephalography showed focal contralateral slowing. Deficits were transient in all patients but one. Four patients (50%) were on a ketogenic diet (KD), and two of these patients had lower than usual ketonemia levels during the episode. In two patients, MRI demonstrated the presence of an ischemic brain lesion. CONCLUSIONS: In Glut1-DS, stroke-like episodes are a recurrent manifestation, particularly during early adulthood, and they were reported in 19% of the patients in our cohort. Stroke mimics should be considered a key feature of Glut1-DS, as other paroxysmal disorders. It remains to be established whether a KD can prevent the recurrence of episodes and, if so, at what level of ketosis. Further observations are needed to confirm the correlation between Glut1-DS and ischemic stroke.
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Errores Innatos del Metabolismo de los Carbohidratos , Proteínas de Transporte de Monosacáridos , Accidente Cerebrovascular , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Adulto Joven , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Errores Innatos del Metabolismo de los Carbohidratos/complicaciones , Errores Innatos del Metabolismo de los Carbohidratos/diagnóstico , Errores Innatos del Metabolismo de los Carbohidratos/fisiopatología , Electroencefalografía , Transportador de Glucosa de Tipo 1/deficiencia , Transportador de Glucosa de Tipo 1/genética , Imagen por Resonancia Magnética , Proteínas de Transporte de Monosacáridos/deficiencia , Proteínas de Transporte de Monosacáridos/genética , Recurrencia , Estudios Retrospectivos , Accidente Cerebrovascular/complicaciones , Accidente Cerebrovascular/diagnóstico por imagenRESUMEN
Objectives: To provide a comprehensive description of neuroradiologic findings in a patient with a probable pathogenic variant of HUWE1, particularly in relation to pontine and cerebellar hypoplasia. Methods: We first report prenatal and postnatal neuroradiologic phenotype of a female patient carrying a HUWE1 likely pathogenic variant and discuss its function. Results: An ultrasound shows borderline ventriculomegaly, rotated cerebellar vermis, and dysgenetic corpus callosum. An MR study identify a short, thin corpus callosum, falcine sinus persistence, reduced cerebellar vermis size, wide inferior IV ventricle, and reduced pontine bulging. Discussion: HUWE1 is a gene encoding an E3 ubitiquine ligase protein involved in nervous system development, function, and disease. The mechanisms by which HUWE1 gene affects nervous system are still largely unclear, but a growing body of literature described disease-causing variants in this gene. This report may help prenatal diagnostic experts in consider also this entity, especially when dealing with pontine and cerebellar hypoplasia findings.
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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.
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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.