Pediatric cerebral sinovenous thrombosis (CSVT) is associated with high morbidity and mortality. ... more Pediatric cerebral sinovenous thrombosis (CSVT) is associated with high morbidity and mortality. Severe long-term sequelae are reported in up to 48% of children. The most frequent location of CSVT in children is the superficial venous system. We present the neuroimaging findings using both computed tomography and magnetic resonance imaging (MRI) in a 10-year-old child with extensive superficial CSVT. Our report aims to stress the importance of awareness of risk factors in suspecting and rapidly diagnosing CSVT. The application of targeted conventional and advanced MRI sequences is the diagnostic tool of choice in children at risk of or with clinically suspected CSVT.
Journal of neuroimaging : official journal of the American Society of Neuroimaging, Jan 2, 2015
Apparent diffusion coefficient (ADC) values have been shown to assist in differentiating cerebell... more Apparent diffusion coefficient (ADC) values have been shown to assist in differentiating cerebellar pilocytic astrocytomas and medulloblastomas. Previous studies have applied only ADC measurements and calculated the mean/median values. Here we investigated the value of diffusion tensor imaging (DTI) histogram characteristics of the entire tumor for differentiation of cerebellar pilocytic astrocytomas and medulloblastomas. Presurgical DTI data were analyzed with a region of interest (ROI) approach to include the entire tumor. For each tumor, histogram-derived metrics including the 25th percentile, 75th percentile, and skewness were calculated for fractional anisotropy (FA) and mean (MD), axial (AD), and radial (RD) diffusivity. The histogram metrics were used as primary predictors of interest in a logistic regression model. Statistical significance levels were set at p < .01. The study population included 17 children with pilocytic astrocytoma and 16 with medulloblastoma (mean age...
Tuberous sclerosis complex is a multisystem, chronic genetic condition characterized by systemic ... more Tuberous sclerosis complex is a multisystem, chronic genetic condition characterized by systemic growth of benign tumors and often accompanied by epilepsy, autism spectrum disorders, and intellectual disability. Nonetheless, the neurodevelopmental phenotype of these patients is not often detailed. The authors describe 3 individuals with tuberous sclerosis complex who share common characteristics that can help to identify a distinct profile of autism spectrum disorder. These findings include typical cognitive development, expressive and pragmatic language deficits, and anxiety. The authors also describe features specific to tuberous sclerosis complex that require consideration before diagnosing an autism spectrum disorder. Identifying distinct profiles of autism spectrum disorder in tuberous sclerosis complex can help optimize treatment across the life span.
OBJECT The authors compared the efficacy of combining 2D+3D CT reconstructions with standard 2D C... more OBJECT The authors compared the efficacy of combining 2D+3D CT reconstructions with standard 2D CT images in the diagnosis of linear skull fractures in children with head trauma. METHODS This was a retrospective evaluation of consecutive head CT studies of children presenting with head trauma. Two experienced pediatric neuroradiologists in consensus created the standard of reference. Three readers independently evaluated the 2D CT images alone and then in combination with the 3D reconstructions for the diagnosis of linear skull fractures. Sensitivity and specificity in the diagnosis of linear skull fractures utilizing 2D and 2D+3D CT in combination were measured for children less than 2 years of age and for all children for analysis by the 3 readers. RESULTS Included in the study were 250 consecutive CT studies of 250 patients (167 boys and 83 girls). The mean age of the children was 7.82 years (range 4 days to 17.4 years). 2D+3D CT combined had a higher sensitivity and specificity ...
Fetal ventriculomegaly is a common and frequently leading neuroimaging finding in complex brain m... more Fetal ventriculomegaly is a common and frequently leading neuroimaging finding in complex brain malformations. Here we report on pre- and postnatal neuroimaging findings in three fetuses with prenatal ventriculomegaly and brainstem kinking. We aim to identify key neuroimaging features that may allow the prenatal differentiation between diseases associated with fetal ventriculomegaly and brainstem kinking. All pre- and postnatal magnetic resonance imaging (MRI) data were qualitatively evaluated for infra- and supratentorial abnormalities. Data about clinical features and genetic findings were collected from clinical histories. In all three patients, fetal MRI showed ventriculomegaly and brainstem kinking. In two patients, postnatal MRI also showed supratentorial migration abnormalities and eye abnormalities were found. In these children, the diagnosis of α-dystroglycanopathy was genetically confirmed. In the third patient, basal ganglia had an abnormal shape on MRI suggesting a tubulinopathy. The differential diagnosis of prenatal ventriculomegaly and brainstem kinking includes α-dystroglycanopathies, X-linked hydrocephalus due to mutations in L1CAM, and tubulinopathies. The prenatal differentiation between these diseases may be difficult. The presence of ocular abnormalities on prenatal neuroimaging may favor α-dystroglycanopathies, while dysplastic basal ganglia may suggest a tubulinopathy. However, in some patients the final differentiation between these diseases is possible only postnatally.
Neurologic morbidity remains high in neonates with perinatal hypoxic-ischemic injury despite ther... more Neurologic morbidity remains high in neonates with perinatal hypoxic-ischemic injury despite therapeutic hypothermia. DTI provides qualitative and quantitative information about the microstructure of the brain, and a near-infrared spectroscopy index can assess cerebrovascular autoregulation. We hypothesized that lower ADC values would correlate with worse autoregulatory function. Thirty-one neonates with hypoxic-ischemic injury were enrolled. ADC scalars were measured in 27 neonates (age range, 4-15 days) in the anterior and posterior centrum semiovale, basal ganglia, thalamus, posterior limb of the internal capsule, pons, and middle cerebellar peduncle on MRI obtained after completion of therapeutic hypothermia. The blood pressure range of each neonate with the most robust autoregulation was identified by using a near-infrared spectroscopy index. Autoregulatory function was measured by blood pressure deviation below the range with optimal autoregulation. In neonates who had MRI on ...
Aicardi syndrome (AS) is defined by the triad of corpus callosum agenesis, chorioretinal "la... more Aicardi syndrome (AS) is defined by the triad of corpus callosum agenesis, chorioretinal "lacunae" and infantile spasms. Additional neuroimaging findings including migrational abnormalities are common. We report on serial neuroimaging findings of a female fetus with ventriculomegaly, corpus callosum agenesis and focal migrational abnormalities, suggestive of AS. Postnatal neuroimaging follow-up as well as ophthalmological evaluation and occurrence of infantile spasms confirmed the prenatally suspected diagnosis of AS. This case points out the key role of serial fetal magnetic resonance imaging (MRI) in detecting the full spectrum of pathologies associated with fetal ventriculomegaly. The associated neuroimaging findings may go undetected on prenatal ultrasound, but are important in terms of diagnosis and counseling of the parents. Additionally, this case emphasizes the importance of serial fetal MRI studies to more accurately delineate the progression of findings during br...
X-linked adreno-leukodystrophy (ALD) is a peroxisomal disorder affecting the white matter of the ... more X-linked adreno-leukodystrophy (ALD) is a peroxisomal disorder affecting the white matter of the central nervous system and the adrenal cortex. It is caused by mutations in the ABCD1 gene encoding for a peroxisomal membrane protein. The absent genotype-phenotype correlation implies a contribution by environmental factors to explain the phenotypical heterogeneity. We report on a 4-year-old boy with a biochemically confirmed diagnosis of ALD after birth. At the age of 32 months, the additional diagnosis of a medulloblastoma was made. After treatment of the medulloblastoma, he developed active areas of demyelination representing the characteristic neuroimaging features of ALD. The clinical history of our patient supports the hypothesis that external factors, like neurosurgical intervention as part of medulloblastoma treatment, may accelerate or initiate cerebral ALD-related demyelination. A postsurgical inflammatory reaction may facilitate the inclusion of abnormal fatty acids in myeli...
Journal of neuroradiology. Journal de neuroradiologie, 2009
Fetal magnetic resonance imaging (MRI) is a well-established second line imaging modality in iden... more Fetal magnetic resonance imaging (MRI) is a well-established second line imaging modality in identifying complex pathologies of the central nervous system (CNS), especially when ultrasound (US) findings are equivocal. It may enable an early and precise diagnosis, which is essential in terms of management of pregnancy and pre-, peri- and postnatal care. We present three cases with rare complex midline malformations of the CNS, diagnosed prenatally by fetal MRI. Two cases revealed holoprosencephaly; one case demonstrated rhombencephalosynapsis. In addition, we reviewed the literature and provide a summary of recent findings regarding cerebral midline development and discuss the advantages of fetal MRI.
Pediatric cerebral sinovenous thrombosis (CSVT) is associated with high morbidity and mortality. ... more Pediatric cerebral sinovenous thrombosis (CSVT) is associated with high morbidity and mortality. Severe long-term sequelae are reported in up to 48% of children. The most frequent location of CSVT in children is the superficial venous system. We present the neuroimaging findings using both computed tomography and magnetic resonance imaging (MRI) in a 10-year-old child with extensive superficial CSVT. Our report aims to stress the importance of awareness of risk factors in suspecting and rapidly diagnosing CSVT. The application of targeted conventional and advanced MRI sequences is the diagnostic tool of choice in children at risk of or with clinically suspected CSVT.
Journal of neuroimaging : official journal of the American Society of Neuroimaging, Jan 2, 2015
Apparent diffusion coefficient (ADC) values have been shown to assist in differentiating cerebell... more Apparent diffusion coefficient (ADC) values have been shown to assist in differentiating cerebellar pilocytic astrocytomas and medulloblastomas. Previous studies have applied only ADC measurements and calculated the mean/median values. Here we investigated the value of diffusion tensor imaging (DTI) histogram characteristics of the entire tumor for differentiation of cerebellar pilocytic astrocytomas and medulloblastomas. Presurgical DTI data were analyzed with a region of interest (ROI) approach to include the entire tumor. For each tumor, histogram-derived metrics including the 25th percentile, 75th percentile, and skewness were calculated for fractional anisotropy (FA) and mean (MD), axial (AD), and radial (RD) diffusivity. The histogram metrics were used as primary predictors of interest in a logistic regression model. Statistical significance levels were set at p < .01. The study population included 17 children with pilocytic astrocytoma and 16 with medulloblastoma (mean age...
Tuberous sclerosis complex is a multisystem, chronic genetic condition characterized by systemic ... more Tuberous sclerosis complex is a multisystem, chronic genetic condition characterized by systemic growth of benign tumors and often accompanied by epilepsy, autism spectrum disorders, and intellectual disability. Nonetheless, the neurodevelopmental phenotype of these patients is not often detailed. The authors describe 3 individuals with tuberous sclerosis complex who share common characteristics that can help to identify a distinct profile of autism spectrum disorder. These findings include typical cognitive development, expressive and pragmatic language deficits, and anxiety. The authors also describe features specific to tuberous sclerosis complex that require consideration before diagnosing an autism spectrum disorder. Identifying distinct profiles of autism spectrum disorder in tuberous sclerosis complex can help optimize treatment across the life span.
OBJECT The authors compared the efficacy of combining 2D+3D CT reconstructions with standard 2D C... more OBJECT The authors compared the efficacy of combining 2D+3D CT reconstructions with standard 2D CT images in the diagnosis of linear skull fractures in children with head trauma. METHODS This was a retrospective evaluation of consecutive head CT studies of children presenting with head trauma. Two experienced pediatric neuroradiologists in consensus created the standard of reference. Three readers independently evaluated the 2D CT images alone and then in combination with the 3D reconstructions for the diagnosis of linear skull fractures. Sensitivity and specificity in the diagnosis of linear skull fractures utilizing 2D and 2D+3D CT in combination were measured for children less than 2 years of age and for all children for analysis by the 3 readers. RESULTS Included in the study were 250 consecutive CT studies of 250 patients (167 boys and 83 girls). The mean age of the children was 7.82 years (range 4 days to 17.4 years). 2D+3D CT combined had a higher sensitivity and specificity ...
Fetal ventriculomegaly is a common and frequently leading neuroimaging finding in complex brain m... more Fetal ventriculomegaly is a common and frequently leading neuroimaging finding in complex brain malformations. Here we report on pre- and postnatal neuroimaging findings in three fetuses with prenatal ventriculomegaly and brainstem kinking. We aim to identify key neuroimaging features that may allow the prenatal differentiation between diseases associated with fetal ventriculomegaly and brainstem kinking. All pre- and postnatal magnetic resonance imaging (MRI) data were qualitatively evaluated for infra- and supratentorial abnormalities. Data about clinical features and genetic findings were collected from clinical histories. In all three patients, fetal MRI showed ventriculomegaly and brainstem kinking. In two patients, postnatal MRI also showed supratentorial migration abnormalities and eye abnormalities were found. In these children, the diagnosis of α-dystroglycanopathy was genetically confirmed. In the third patient, basal ganglia had an abnormal shape on MRI suggesting a tubulinopathy. The differential diagnosis of prenatal ventriculomegaly and brainstem kinking includes α-dystroglycanopathies, X-linked hydrocephalus due to mutations in L1CAM, and tubulinopathies. The prenatal differentiation between these diseases may be difficult. The presence of ocular abnormalities on prenatal neuroimaging may favor α-dystroglycanopathies, while dysplastic basal ganglia may suggest a tubulinopathy. However, in some patients the final differentiation between these diseases is possible only postnatally.
Neurologic morbidity remains high in neonates with perinatal hypoxic-ischemic injury despite ther... more Neurologic morbidity remains high in neonates with perinatal hypoxic-ischemic injury despite therapeutic hypothermia. DTI provides qualitative and quantitative information about the microstructure of the brain, and a near-infrared spectroscopy index can assess cerebrovascular autoregulation. We hypothesized that lower ADC values would correlate with worse autoregulatory function. Thirty-one neonates with hypoxic-ischemic injury were enrolled. ADC scalars were measured in 27 neonates (age range, 4-15 days) in the anterior and posterior centrum semiovale, basal ganglia, thalamus, posterior limb of the internal capsule, pons, and middle cerebellar peduncle on MRI obtained after completion of therapeutic hypothermia. The blood pressure range of each neonate with the most robust autoregulation was identified by using a near-infrared spectroscopy index. Autoregulatory function was measured by blood pressure deviation below the range with optimal autoregulation. In neonates who had MRI on ...
Aicardi syndrome (AS) is defined by the triad of corpus callosum agenesis, chorioretinal "la... more Aicardi syndrome (AS) is defined by the triad of corpus callosum agenesis, chorioretinal "lacunae" and infantile spasms. Additional neuroimaging findings including migrational abnormalities are common. We report on serial neuroimaging findings of a female fetus with ventriculomegaly, corpus callosum agenesis and focal migrational abnormalities, suggestive of AS. Postnatal neuroimaging follow-up as well as ophthalmological evaluation and occurrence of infantile spasms confirmed the prenatally suspected diagnosis of AS. This case points out the key role of serial fetal magnetic resonance imaging (MRI) in detecting the full spectrum of pathologies associated with fetal ventriculomegaly. The associated neuroimaging findings may go undetected on prenatal ultrasound, but are important in terms of diagnosis and counseling of the parents. Additionally, this case emphasizes the importance of serial fetal MRI studies to more accurately delineate the progression of findings during br...
X-linked adreno-leukodystrophy (ALD) is a peroxisomal disorder affecting the white matter of the ... more X-linked adreno-leukodystrophy (ALD) is a peroxisomal disorder affecting the white matter of the central nervous system and the adrenal cortex. It is caused by mutations in the ABCD1 gene encoding for a peroxisomal membrane protein. The absent genotype-phenotype correlation implies a contribution by environmental factors to explain the phenotypical heterogeneity. We report on a 4-year-old boy with a biochemically confirmed diagnosis of ALD after birth. At the age of 32 months, the additional diagnosis of a medulloblastoma was made. After treatment of the medulloblastoma, he developed active areas of demyelination representing the characteristic neuroimaging features of ALD. The clinical history of our patient supports the hypothesis that external factors, like neurosurgical intervention as part of medulloblastoma treatment, may accelerate or initiate cerebral ALD-related demyelination. A postsurgical inflammatory reaction may facilitate the inclusion of abnormal fatty acids in myeli...
Journal of neuroradiology. Journal de neuroradiologie, 2009
Fetal magnetic resonance imaging (MRI) is a well-established second line imaging modality in iden... more Fetal magnetic resonance imaging (MRI) is a well-established second line imaging modality in identifying complex pathologies of the central nervous system (CNS), especially when ultrasound (US) findings are equivocal. It may enable an early and precise diagnosis, which is essential in terms of management of pregnancy and pre-, peri- and postnatal care. We present three cases with rare complex midline malformations of the CNS, diagnosed prenatally by fetal MRI. Two cases revealed holoprosencephaly; one case demonstrated rhombencephalosynapsis. In addition, we reviewed the literature and provide a summary of recent findings regarding cerebral midline development and discuss the advantages of fetal MRI.
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