To assess the diagnostic and prognostic value of fetal cerebral magnetic resonance (MR) imaging of congenital cytomegalovirus (CMV) infection in comparison with that of level II ultrasonography (US).
...Institutional review board approval and informed consent for fetal MR imaging and data collection were obtained. Thirty-eight fetuses with CMV infection, examined by using serial level II US, underwent fetal MR imaging (mean gestational age, 25 weeks; age range at first fetal MR examination, 20-34 weeks). The frequency of pathologic findings at US (29 cases with transabdominal examination and nine cases with both transabdominal and transvaginal examination) and MR imaging was calculated, and a comparison between techniques by considering number (paired Student t test) and type (McNemar test) of finding was made. A comparison (paired Student t test) in cases of repeated fetal (nine of 38) and/or postnatal (14 of 38) MR imaging was obtained. Diagnostic and prognostic sensitivity was calculated for both techniques.
US and MR imaging findings were both normal in 47% of cases (18 of 38). Abnormal studies were reported in 26% (10 of 38) of US and 53% (20 of 38) of MR imaging cases. In 47% of cases (18 of 38), MR imaging provided additional information (P = .0002). MR imaging had better results than US in detecting polar temporal lesions (P = .0001), microencephaly (P = .03), and cortical anomalies (P = .06). In 44.5% of cases (four of nine), the second fetal MR examination results showed new findings (P = .05). In 79% of cases, postnatal MR imaging results confirmed prenatal findings (P = .08). MR imaging had higher sensitivity than US in detecting brain anomalies (92% vs 38%) and in predicting symptomatic infection (83% vs 33%). US and MR imaging revealed low positive predictive values (29% vs 36%).
Fetal MR imaging results can show abnormalities in the fetal brain after CMV infection, even when US results are normal. The early detection of some brain abnormalities, such as microencephaly and cortical anomalies, may substantially influence the prognosis of fetal infection.
Background
Molybdenum cofactor deficiency (MoCD) is a rare autosomal‐recessive disorder that results in the combined deficiency of molybdenum‐dependent enzymes. Four different genes are involved in ...Molybdenum cofactor biosynthesis: MOCS1, MOCS2, MOCS3, and GEPH. The classical form manifests in the neonatal period with severe encephalopathy, including intractable seizures, MRI changes that resemble hypoxic‐ischemic injury, microcephaly, and early death. To date, an atypical phenotype with late‐onset has been reported in the literature in 13 patients.
Methods
We describe a late‐onset and a relatively mild phenotype in a patient with MOCS2 homozygous mutation.
Results
Pyramidal and extrapyramidal signs are recognized in those patients, often exacerbated by intercurrent illness. Expressive language is usually compromised. Neurological deterioration is possible even in adulthood, probably due to accumulation of sulfite with time.
Conclusion
Sulfite inhibition of mitochondrial metabolism could be responsible for the ischemic lesions described in patients with MoCD or alternatively could predispose the brain to suffer an ischemic damage through the action of other insults, for instance intercurrent illness. It is possible that sulfite accumulation together with other external triggers, can lead to neurological deterioration even in adulthood. The role of other factors involved in clinical expression should be investigated to establish the reason for phenotypic variability in patients with the same mutation.
Molybdenum cofactor deficiency (MoCD) is a rare autosomal‐recessive disorder that results in the combined deficiency of molybdenum‐dependent enzymes. To date, an atypical phenotype with late‐onset has been reported in the literature in 13 patients. We describe a late‐onset and a relatively mild phenotype in a patient with MOCS2 homozygous mutation. Pyramidal and extrapyramidal signs are recognized in those patients, often exacerbated by intercurrent illnesses. Neurological deterioration is possible even in adulthood, probably due to accumulation of sulfite with time.
Objective
This long‐term retrospective follow‐up study aimed to address the knowledge gap between prenatal diagnosis of complete isolated Agenesis of Corpus Callosum (cACC) at fetal MRI and postnatal ...neurodevelopmental outcome to improve prenatal counseling for parents.
Methods
Data on fetuses with isolated cACC from a single‐center MRI database built up in two decades were considered. Detailed postnatal clinical, neuropsychological evaluations were performed and descriptions of available neuroradiological and genetic data were provided.
Results
Following a detailed neuropsychological evaluation and a long‐term follow‐up, the subsequent results emerged: 38 school‐aged children (older than 6 years) of 50 (aged 2.5‐15 years) showed normal intellectual functions (50%), intellectual disability (21%), and borderline intelligence quotient (29%). Deficits in motor functions (58%), executive functions (37%), language (61%), memory abilities (58%), and academic performances (53%) were found. Twenty‐one percent of participants showed behavioral difficulties. Almost half of the participants underwent rehabilitation. Additional findings (21%) were detected at postnatal brain MRI, and a significant association between additional findings at postnatal imaging and abnormal neurodevelopmental outcome was observed.
Interpretations
This study supports the view that children with prenatal diagnosis of isolated cACC may present with several degrees of neurologic and neuropsychological impairment which become more evident only in their second decade of life. Postnatal MRI and detailed genetic analysis may add crucial information to prenatal data and substantially influence final judgment on the outcome and orient clinical management and counseling.
Abstract Background Hypochondroplasia is a rare skeletal dysplasia characterized by disproportionately short stature, lumbar lordosis, and limited extension of the elbow caused by mutations in the ...fibroblast growth factor receptor 3 (FGFR3) gene that plays a role in controlling nervous system development. Hypochondroplasia with FGFR3 mutation associated with bilateral medial temporal lobe anomalies and focal epilepsy was previously reported in several patients. Patient We report clinical, electroclinical, and neuroradiological findings of one patient affected by hypochondroplasia. Results Clinical diagnosis was confirmed by molecular analysis of the FGFR3 gene, which showed a N540 K mutation. The patient had normal psychomotor development and showed early-onset focal seizures with left temporal localization on interictal and ictal electroencephalograph. The seizures were well controlled, and the patient has been seizure-free since infancy. Magnetic resonance imaging showed abnormal anteriorly posteriorly infolding in the hippocampus and abnormally oriented parahippocampus sulci, and additional cortical rim dysplasia with gray-white matter junction blurring in the hippocampus. Conclusions The present case of hypochondroplasia and FGFR3 mutation in Asn540Lys associated with characteristic abnormalities involving bilaterally medial temporal lobe structures, probable hippocampal cortex focal dysplasia, and early onset of focal epilepsy underscores the possibility of a rare syndrome.
Introduction
Many neurologic and psychiatric disorders are thought to be due to, or result in, developmental errors in neuronal cerebellar connectivity. In this connectivity analysis, we studied the ...developmental time‐course of cerebellar peduncle pathways in pediatric and young adult subjects.
Methods
A cohort of 80 subjects, newborns to young adults, was studied on a 3T MR system with 30 diffusion‐weighted measurements with high‐angular resolution diffusion imaging (HARDI) tractography.
Results
Qualitative and quantitative results were analyzed for age‐based variation. In subjects of all ages, the superior cerebellar peduncle pathway (SCP) and two distinct subpathways of the middle cerebellar peduncle (MCP), as described in previous ex vivo studies, were identified in vivo with this technique: pathways between the rostral pons and inferior‐lateral cerebellum (MCPcog), associated predominantly with higher cognitive function, and pathways between the caudal pons and superior‐medial cerebellum (MCPmot), associated predominantly with motor function.
Discussion
Our findings showed that the inferior cerebellar peduncle pathway (ICP), involved primarily in proprioception and balance appears to have a later onset followed by more rapid development than that exhibited in other tracts. We hope that this study may provide an initial point of reference for future studies of normal and pathologic development of cerebellar connectivity.
This work demonstrates the usefulness of HARDI tractography for studying the normal development of the cerebellar peduncle pathways in a pediatric population. We showed that it is possible to distinguish in vivo two subpathways of the middle cerebellar peduncle (MCP), the motor component (MCPmot) and the higher cognitive function component (MCPcog) at all ages even in the premature newborn.
Background
To manage and analyse dosimetric data provided by computed tomography (CT) scanners from four Italian hospitals.
Methods
A radiation dose index monitoring (RDIM) software was used to ...collect anonymised exams stored in a cloud server. Since hospitals use different names for the same procedure, digital imaging and communications in medicine (DICOM) tags more appropriate to describe exams were selected and associated to study common names (SCNs) from a radiology playbook according to scan region and use of contrast media. Retrospective analysis was carried out to describe population and to evaluate dosimetric indexes and inaccuracies associated with SCNs.
Results
More than 400 procedures were clustered into 95 SCNs, but 78% of exams on adults were described with only 10 SCNs. Median values of dose-length product (DLP) and volumetric CT dose index (CTDI
vol
) for three analysed SCNs were in agreement with those previously published. The percentage of inaccuracies does not heavily affect the dosimetric analysis on the whole cloud, since variations in median values reached at most 8%.
Conclusions
Implementation of a cloud-based RDIM software and related issues were described, showing the strength of the chosen playbook-based clustering and its usefulness for homogeneous data analysis. This approach may allow for optimisation actions, accurate assessment of the risk associated with radiation exposure, comparison of different facilities, and, last but not least, collection of information for the implementation of the 2013/59 Euratom Directive.
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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