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1.
EMBO J ; 39(13): e104163, 2020 07 01.
Article in English | MEDLINE | ID: mdl-32484994

ABSTRACT

The relationships between impaired cortical development and consequent malformations in neurodevelopmental disorders, as well as the genes implicated in these processes, are not fully elucidated to date. In this study, we report six novel cases of patients affected by BBSOAS (Boonstra-Bosch-Schaff optic atrophy syndrome), a newly emerging rare neurodevelopmental disorder, caused by loss-of-function mutations of the transcriptional regulator NR2F1. Young patients with NR2F1 haploinsufficiency display mild to moderate intellectual disability and show reproducible polymicrogyria-like brain malformations in the parietal and occipital cortex. Using a recently established BBSOAS mouse model, we found that Nr2f1 regionally controls long-term self-renewal of neural progenitor cells via modulation of cell cycle genes and key cortical development master genes, such as Pax6. In the human fetal cortex, distinct NR2F1 expression levels encompass gyri and sulci and correlate with local degrees of neurogenic activity. In addition, reduced NR2F1 levels in cerebral organoids affect neurogenesis and PAX6 expression. We propose NR2F1 as an area-specific regulator of mouse and human brain morphology and a novel causative gene of abnormal gyrification.


Subject(s)
COUP Transcription Factor I/metabolism , Neocortex/embryology , Neural Stem Cells/metabolism , Occipital Lobe/embryology , Optic Atrophies, Hereditary/embryology , Parietal Lobe/embryology , Animals , COUP Transcription Factor I/genetics , Disease Models, Animal , Humans , Mice , Neocortex/pathology , Neural Stem Cells/pathology , Occipital Lobe/pathology , Optic Atrophies, Hereditary/genetics , Optic Atrophies, Hereditary/pathology , PAX6 Transcription Factor/genetics , PAX6 Transcription Factor/metabolism , Parietal Lobe/pathology
2.
AJNR Am J Neuroradiol ; 40(4): 718-725, 2019 04.
Article in English | MEDLINE | ID: mdl-30894357

ABSTRACT

BACKGROUND AND PURPOSE: Few investigators have studied the lateral ventricle formation related to the development of the calcarine sulcus. Our purpose was to establish the relationship between the lateral ventricles and the calcarine sulcus in the second and third trimesters. MATERIALS AND METHODS: Fetal brain MR imaging (3T and 7T) was performed in 84 fetuses at 14-35 gestational weeks. The lateral ventricles and calcarine sulcus were 3D-reconstructed, and quantitative measurements were obtained. RESULTS: The lateral ventricle volume decreases slowly at 14-23 gestational weeks and then increases rapidly at 24-35 gestational weeks. The depth and length of the calcarine sulcus develop with the increase in gestational weeks, leading to be squeezed in the lateral ventricle posterior horn. A linear correlation occurs between the calcarine sulcus length and posterior horn length: Right-length = 2.4204 (LPH) - 27.5706, Left-length = 2.0939 (LPH) - 23.4099. CONCLUSIONS: The variation of lateral ventricle volume evolved from a slow to rapid increase at 14-35 gestational weeks. The shrinkage in the lateral ventricle posterior horn is accompanied by the development of the calcarine sulcus, resulting in a better linear correlation between the calcarine sulcus length and the posterior horn length. The present results are valuable in elucidating the evolution of lateral ventricle development and provide clues for the diagnosis of lateral ventricle abnormalities in the prenatal examination.


Subject(s)
Fetus/anatomy & histology , Lateral Ventricles/embryology , Neurogenesis , Occipital Lobe/embryology , Female , Humans , Male
3.
Pediatr Neurol ; 63: 23-38, 2016 10.
Article in English | MEDLINE | ID: mdl-27590993

ABSTRACT

After sagittal division of the prosencephalon at 4.5 weeks of gestation, the early fetal cerebral hemisphere bends or rotates posteroventrally from seven weeks of gestation. The posterior pole of the telencephalon thus becomes not the occipital but the temporal lobe as the telencephalic flexure forms the operculum and finally the lateral cerebral or Sylvian fissure. The ventral part is infolded to become the insula. The frontal and temporal lips of the Sylvian fissure, as well as the insula, all derive from the ventral margin of the primitive telencephalon, hence may be influenced by genetic mutations with a ventrodorsal gradient of expression. The telencephalic flexure also contributes to a shift of the hippocampus from a dorsal to a ventral position, the early rostral pole of the hippocampus becoming caudal and dorsal becoming ventral. The occipital horn is the most recent recess of the lateral ventricle, hence most vulnerable to anatomic variations that affect the calcarine fissure. Many major malformations include lack of telencephalic flexure (holoprosencephaly, extreme micrencephaly) or dysplastic Sylvian fissure (lissencephalies, hemimegalencephaly, schizencephaly). Although fissures and sulci are genetically programmed, mechanical forces of growth and volume expansion are proposed to be mainly extrinsic (including ventricles) for fissures and intrinsic for sulci. In fetal hydrocephalus, the telencephalic flexure is less affected because ventricular dilatation occurs later in gestation. Flexures can be detected prenatally by ultrasound and fetal magnetic resonance imaging and should be described neuropathologically in cerebral malformations.


Subject(s)
Cerebral Aqueduct/diagnostic imaging , Cerebral Aqueduct/embryology , Telencephalon/diagnostic imaging , Telencephalon/embryology , Cerebral Aqueduct/abnormalities , Holoprosencephaly/diagnostic imaging , Holoprosencephaly/pathology , Humans , Magnetic Resonance Imaging/methods , Occipital Lobe/abnormalities , Occipital Lobe/diagnostic imaging , Occipital Lobe/embryology , Telencephalon/abnormalities
4.
Prenat Diagn ; 35(5): 493-9, 2015 May.
Article in English | MEDLINE | ID: mdl-25619335

ABSTRACT

OBJECTIVE: To perform a sequential analysis of the main cortical fissures in normal fetuses using 3D ultrasound. METHODS: A cohort of patients with uncomplicated singleton pregnancies underwent three consecutive transabdominal scans at 19-21, 26-28 and 30-34 weeks. Volumes of the fetal head were acquired and searched in the multiplanar mode for the following cortical fissures: sylvian, parieto-occipital, calcarine, hippocampus and cingulate. A qualitative analysis of these sulci was performed in each volume by an experienced operator (A) and a trainee (B). By placing the dot on the sulcus in one plane, it was evaluated whether it was visible also in other planes. RESULTS: Fifty patients were included in the study. At 19-21 weeks, the sylvian and parieto-occipital sulci were visualized on at least one plane by both operators in all cases. At 26-28 weeks, all fissures were visualized by both operators on at least one plane, with no significant difference between the performances of the two operators. At 30-34 weeks, a mild overall decline in the accuracy of identification of all the cerebral fissures was observed. CONCLUSIONS: 3D multiplanar mode allows a systematic evaluation of the cortical fissures in normal fetuses since midtrimester.


Subject(s)
Cerebral Cortex/diagnostic imaging , Echoencephalography , Gestational Age , Imaging, Three-Dimensional , Ultrasonography, Prenatal , Adult , Cerebral Cortex/embryology , Cohort Studies , Female , Humans , Longitudinal Studies , Occipital Lobe/diagnostic imaging , Occipital Lobe/embryology , Pregnancy , Prospective Studies
5.
Magn Reson Med ; 73(5): 1795-802, 2015 May.
Article in English | MEDLINE | ID: mdl-25046845

ABSTRACT

PURPOSE: The aim of this study was to determine T2* values for the fetal brain in utero and to compare them with previously reported values in preterm and term neonates. Knowledge of T2* may be useful for assessing brain development, brain abnormalities, and for optimizing functional imaging studies. METHODS: Maternal respiration and unpredictable fetal motion mean that conventional multishot acquisition techniques used in adult T2* relaxometry studies are not practical. Single shot multiecho echo planar imaging was used as a rapid method for measuring fetal T2* by effectively freezing intra-slice motion. RESULTS: T2* determined from a sample of 24 subjects correlated negatively with gestational age with mean values of 220 ms (±45) for frontal white matter, 159 ms (±32) for thalamic gray matter, and 236 ms (±45) for occipital white matter. CONCLUSION: Fetal T2* values are higher than those previously reported for preterm neonates and decline with a consistent trend across gestational age. The data suggest that longer than usual echo times or direct T2* measurement should be considered when performing fetal fMRI to reach optimal BOLD sensitivity.


Subject(s)
Artifacts , Brain/embryology , Echo-Planar Imaging/methods , Image Enhancement/methods , Image Processing, Computer-Assisted/methods , Infant, Premature/growth & development , Magnetic Resonance Imaging/methods , Female , Frontal Lobe/embryology , Gestational Age , Humans , Infant, Newborn , Occipital Lobe/embryology , Pregnancy , Reference Values , Sensitivity and Specificity , Thalamus/embryology , White Matter/embryology
6.
AJNR Am J Neuroradiol ; 34(7): 1462-7, 2013 Jul.
Article in English | MEDLINE | ID: mdl-23413246

ABSTRACT

BACKGROUND AND PURPOSE: Few investigators have analyzed the fetal cerebral cortex with MR imaging of high magnetic strength. Our purpose was to document the sulcal development and obtain quantitative measurements of the fetal brain in the second trimester. MATERIALS AND METHODS: The brains of 69 fetal specimens, with GA 12-22 weeks, were first scanned on a 7T MR imaging scanner. Then the sequential development of the different fissures and sulci was analyzed, and quantitative measurements of the cerebral cortex were obtained. RESULTS: A new chronology of sulcal development during 12-22 weeks GA was summarized. Before 12 weeks, few sulci were present; by 16 weeks, many sulci were present. The 16th week could be considered the most intensive time point for sulcal emergence. Most sulci, except for the postcentral sulcus and intraparietal sulcus, were present by 22 weeks GA. Measurements of the fetal brains, each with different growth rates, linearly increased with GA, but no sexual dimorphisms or cerebral asymmetries were detected. CONCLUSIONS: The second trimester is the most important phase, during which most sulci are present and can be clearly shown on 7T postmortem MR imaging. It is apparent that the specific time during which neuropathologic features of sulci appear, previously thought to be well understood, should be redefined. Quantitative data provide assistance in the precise understanding of the immature brain. The present results are valuable in anatomic education, research, and assessment of normal brain development in the uterus.


Subject(s)
Cerebral Cortex/embryology , Gestational Age , Magnetic Resonance Imaging/methods , Cerebrum/embryology , Female , Fetal Development/physiology , Frontal Lobe/embryology , Humans , Image Enhancement/methods , Image Processing, Computer-Assisted/methods , Imaging, Three-Dimensional/methods , Magnetic Resonance Imaging/instrumentation , Male , Occipital Lobe/embryology , Organ Size , Parietal Lobe/embryology , Pregnancy , Pregnancy Trimester, Second , Temporal Lobe/embryology
7.
J Ultrasound Med ; 32(2): 269-77, 2013 Feb.
Article in English | MEDLINE | ID: mdl-23341383

ABSTRACT

OBJECTIVES: To determine reference ranges for measurements of fetal cerebral fissures by 3-dimensional (3D) sonography in the multiplanar mode and to evaluate the reliability and concordance of these measurements. METHODS: A cross-sectional study was conducted on 393 women with normal pregnancies at 22 weeks to 33 weeks 6 days. The distances between the internal bone plate of the fetal calvaria and the sylvian, parieto-occipital, hippocampal, and calcarine fissures were assessed. To obtain the distances for the first 3 fissures, a 3D sweep was made in the axial plane, at the level of the lateral ventricles. To obtain the distance for the calcarine fissure, a coronal sweep was used, at the level of the occipital lobes. To evaluate the correlation between the fissures and gestational age, polynomial regression was performed with adjustments using the coefficient of determination (R(2)). Reliability was determined with intraclass correlation coefficients and concordance with concordance limits. RESULTS: The mean distances ± SD to the sylvian, parieto-occipital, hippocampal, and calcarine fissures were 10.42 ± 2.28, 22.38 ± 3.23, 24.88 ± 4.67, and 21.19 ± 2.73 mm, respectively. These distances correlated with gestational age such that the best fit with the linear equation produced R(2) values of 0.582, 0.627, 0.860, and 0.458 for the sylvian, parieto-occipital, hippocampal, and calcarine fissures. Reliability analyses showed intraobserver and interobserver intraclass correlation coefficients of 0.90 to 0.95 and 0.85 to 0.97. The concordance limits were-1.33 to 1.30 and -2.38 to 2.28 mm for the intraobserver evaluation and -1.60 to 2.57 and -3.51 to 2.73 mm for the interobserver evaluation. CONCLUSIONS: Cerebral fissures can be measured by 3D sonography at 22 to 33 weeks of pregnancy with acceptable reliability and concordance. Reference ranges for this gestational period have thus been described.


Subject(s)
Cerebral Cortex/diagnostic imaging , Cerebral Cortex/embryology , Echoencephalography/methods , Imaging, Three-Dimensional , Pregnancy Trimester, Second , Ultrasonography, Prenatal , Adolescent , Adult , Cerebral Cortex/anatomy & histology , Cross-Sectional Studies , Female , Gestational Age , Hippocampus/diagnostic imaging , Hippocampus/embryology , Humans , Occipital Lobe/diagnostic imaging , Occipital Lobe/embryology , Parietal Lobe/diagnostic imaging , Parietal Lobe/embryology , Pregnancy , Prospective Studies , Reference Values , Reproducibility of Results , Young Adult
8.
Ultrasound Obstet Gynecol ; 42(2): 213-7, 2013 Aug.
Article in English | MEDLINE | ID: mdl-23303574

ABSTRACT

OBJECTIVE: To assess the usability of virtual-reality (VR) simulation for obstetric ultrasound trainees. METHODS: Twenty-six participants were recruited: 18 obstetric ultrasound trainees (with little formal ultrasonography training) and eight certified experts. All performed five sequential VR-simulated crown-rump length (CRL) scans in a single session and three repetitions of biparietal diameter (BPD), occipitofrontal diameter (OFD) and femur length (FL) measurements. Outcome measures included mean percentage deviation from target for all measurements. Time taken to perform each type of scan was recorded. RESULTS: The mean percentage difference for the first scan was significantly greater for the trainee group than for the expert group for BPD (P = 0.035), OFD (P = 0.010) and FL (P = 0.008) and for time taken for the first CRL (P < 0.001) and fetal biometry (including BPD, OFD and FL measurements) scan (P < 0.001), demonstrating that trainees were initially significantly less accurate and less efficient. Over subsequent scans, the trainees became more accurate for all measurements with a significant improvement shown for OFD and FL (P < 0.05). The time taken for trainees to complete CRL and fetal biometry scans decreased significantly (all P < 0.05) with repetition, to near-expert efficiency. CONCLUSIONS: All participants were able to use the simulator and produce clinically meaningful biometry results. With repetition, beginners quickly approached near-expert levels of accuracy and speed. These data demonstrate that obstetricians with minimal experience can improve their ultrasonographic skills with short-phase VR-simulation training. The speed of improvement suggests that VR simulation might be useful as a warm-up exercise before clinical training sessions in order to reduce their impact on clinical service.


Subject(s)
Computer Simulation , Education, Medical, Graduate/methods , Obstetrics/education , Ultrasonics/education , Ultrasonography, Prenatal/standards , Biometry , Clinical Competence/standards , Crown-Rump Length , Female , Femur/diagnostic imaging , Femur/embryology , Frontal Lobe/diagnostic imaging , Frontal Lobe/embryology , Humans , Occipital Lobe/diagnostic imaging , Occipital Lobe/embryology , Pregnancy , Prospective Studies , User-Computer Interface
9.
Dev Neurosci ; 34(4): 327-41, 2012.
Article in English | MEDLINE | ID: mdl-22907274

ABSTRACT

OBJECTIVE: To examine the independent contributions of prenatal methamphetamine exposure (PME) and prenatal tobacco exposure (PTE) on brain morphology among a sample of nonalcohol-exposed 3- to 5-year-old children followed prospectively since birth. STUDY DESIGN: The sample included 20 children with PME (19 with PTE) and 15 comparison children (7 with PTE), matched on race, birth weight, maternal education and type of insurance. Subcortical and cortical volumes and cortical thickness measures were derived through an automated segmentation procedure from T1-weighted structural magnetic resonance images obtained on unsedated children. Attention was assessed using the computerized Conners' Kiddie Continuous Performance Test Version 5 (K-CPT™ V.5). PME effects on subcortical and cortical brain volumes and cortical thickness were tested by general linear model with type III sum of squares, adjusting for PTE, prenatal marijuana exposure, age at time of scan, gender, handedness, pulse sequence and total intracranial volume (for volumetric outcomes). A similar analysis was done for PTE effects on subcortical and cortical brain volumes and thickness, adjusting for PME and the above covariates. RESULTS: Children with PME had significantly reduced caudate nucleus volumes and cortical thickness increases in perisylvian and orbital-frontal cortices. In contrast, children with PTE showed cortical thinning in perisylvian and lateral occipital cortices and volumetric increases in frontal regions and decreases in anterior cingulate. PME was positively related and caudate volume was inversely related to K-CPT reaction time by inter-stimulus interval, a measure of the ability to adjust to changing task demands, suggesting that children with PME may have subtle attentional deficits mediated by caudate volume reductions. CONCLUSIONS: Our results suggest that PME and PTE may have distinct differential cortical effects on the developing central nervous system. Additionally, PME may be associated with subtle deficits in attention mediated by caudate volume reductions.


Subject(s)
Amphetamine-Related Disorders/physiopathology , Attention/physiology , Caudate Nucleus/embryology , Cerebral Cortex/embryology , Methamphetamine/adverse effects , Pregnancy Complications/physiopathology , Prenatal Exposure Delayed Effects , Smoking/adverse effects , Case-Control Studies , Caudate Nucleus/pathology , Caudate Nucleus/physiopathology , Cerebral Cortex/pathology , Cerebral Cortex/physiopathology , Child, Preschool , Cross-Sectional Studies , Depression/physiopathology , Female , Follow-Up Studies , Frontal Lobe/embryology , Frontal Lobe/pathology , Frontal Lobe/physiopathology , Gyrus Cinguli/embryology , Gyrus Cinguli/pathology , Gyrus Cinguli/physiopathology , Humans , Magnetic Resonance Imaging , Male , Marijuana Abuse/physiopathology , Occipital Lobe/embryology , Occipital Lobe/pathology , Occipital Lobe/physiopathology , Organ Size , Pregnancy , Pregnancy Complications/psychology , Prospective Studies , Stress, Psychological/physiopathology
11.
Neurochirurgie ; 57(4-6): 141-50, 2011.
Article in French | MEDLINE | ID: mdl-22030164

ABSTRACT

The lateral ventricles are the C-shaped cavities of the telencephalon. Embryology of theses cavities is recalled as well as the immediate relationship of the frontal horn, the body, the atrium and the temporal and occipital horns.


Subject(s)
Lateral Ventricles/anatomy & histology , Lateral Ventricles/embryology , Animals , Cerebrospinal Fluid/physiology , Choroid Plexus/anatomy & histology , Choroid Plexus/embryology , Frontal Lobe/anatomy & histology , Frontal Lobe/embryology , Humans , Occipital Lobe/anatomy & histology , Occipital Lobe/embryology , Temporal Lobe/anatomy & histology , Temporal Lobe/embryology
12.
Nat Genet ; 43(6): 590-4, 2011 Jun.
Article in English | MEDLINE | ID: mdl-21572413

ABSTRACT

The biological basis for regional and inter-species differences in cerebral cortical morphology is poorly understood. We focused on consanguineous Turkish families with a single affected member with complex bilateral occipital cortical gyration abnormalities. By using whole-exome sequencing, we initially identified a homozygous 2-bp deletion in LAMC3, the laminin γ3 gene, leading to an immediate premature termination codon. In two other affected individuals with nearly identical phenotypes, we identified a homozygous nonsense mutation and a compound heterozygous mutation. In human but not mouse fetal brain, LAMC3 is enriched in postmitotic cortical plate neurons, localizing primarily to the somatodendritic compartment. LAMC3 expression peaks between late gestation and late infancy, paralleling the expression of molecules that are important in dendritogenesis and synapse formation. The discovery of the molecular basis of this unusual occipital malformation furthers our understanding of the complex biology underlying the formation of cortical gyrations.


Subject(s)
Genes, Recessive , Laminin/genetics , Mutation , Occipital Lobe/abnormalities , Animals , Cerebral Cortex/embryology , Cerebral Cortex/metabolism , Consanguinity , Gene Deletion , Humans , Laminin/blood , Laminin/metabolism , Magnetic Resonance Imaging , Mice , Occipital Lobe/embryology , Occipital Lobe/metabolism , Occipital Lobe/pathology , Species Specificity
13.
Neuroscience ; 167(3): 735-40, 2010 May 19.
Article in English | MEDLINE | ID: mdl-20219641

ABSTRACT

The ontogenetic pattern of gyrification and its relationship with cerebral cortical volume were examined in cynomolgus monkey fetuses. T(1)-weighted coronal magnetic resonance (MR) images at 7 T were acquired from the fixed cerebra of three male fetuses, each at embryonic days (EDs) 70 to 150, and the gyrification index (GI) of each slice was estimated. The mean GI was low (1.1-1.2) during EDs 70 to 90, and then increased dramatically on ED 100. The developmental profiles of the rostrocaudal GI distribution revealed that cortical convolution was more frequent in the parietooccipital region than in other regions during EDs 100 to 150, forming an adult-like pattern by ED 150. The mean GI was closely correlated with the volume of cortical gray matter (r=0.9877), and also with the volume of white matter/intermediate zone (r=0.8961). These findings suggest that cortical convolution is correlated with either the maturation of cortical gray matter or the development of white matter bundles. The characteristic GI distribution pattern of catarrhines was formed by ED 150 in correlation with the progressive sulcal infolding in the parietooccipital region of the cerebrum.


Subject(s)
Body Patterning/physiology , Cerebral Cortex/embryology , Fetus/embryology , Macaca fascicularis/embryology , Organogenesis/physiology , Animals , Biological Evolution , Cerebral Cortex/physiology , Fetus/physiology , Image Processing, Computer-Assisted , Macaca fascicularis/physiology , Magnetic Resonance Imaging , Male , Nerve Fibers, Myelinated/physiology , Neurogenesis/physiology , Occipital Lobe/embryology , Occipital Lobe/physiology , Parietal Lobe/embryology , Parietal Lobe/physiology , Phylogeny , Species Specificity
14.
Am J Obstet Gynecol ; 202(4): 359.e1-8, 2010 Apr.
Article in English | MEDLINE | ID: mdl-20074689

ABSTRACT

OBJECTIVE: The objective of the study was to evaluate the magnitude of normal fetal brain asymmetry. STUDY DESIGN: This was a prospective study. Normal fetuses between 19-28 weeks of gestation were studied. The cerebral atria, occipital cortex, and hemispheres in both sides were measured. The difference between each side was evaluated and was correlated with sex, head biometry, and estimated weight. RESULTS: Four hundred six fetuses were studied. Mean atrial width was larger in the males and on the left side (5.2% and 6.5%, respectively). Mean cortical width was 2.6% larger in males but 5.5% thinner on the left side. Mean hemisphere width was larger in males and on the left side (2.3% and 1.5%, respectively). The atria and the cortex presented an inverse relationship regarding fetal growth parameters. CONCLUSION: Brain asymmetry represents normal fetal brain developmental phenomena. It is sex dependent and lateralized in most cases to the left. Lateralization was more accentuated in males.


Subject(s)
Brain/anatomy & histology , Brain/embryology , Echoencephalography/statistics & numerical data , Functional Laterality , Ultrasonography, Prenatal/statistics & numerical data , Cerebral Ventricles/anatomy & histology , Cerebral Ventricles/embryology , Choroid Plexus/anatomy & histology , Choroid Plexus/embryology , Female , Gestational Age , Humans , Male , Observer Variation , Occipital Lobe/anatomy & histology , Occipital Lobe/embryology , Pregnancy , Prospective Studies , Reference Values , Sex Characteristics , Sex Distribution
15.
Prog. diagn. trat. prenat. (Ed. impr.) ; 21(4): 208-212, oct.-dic. 2009. ilus
Article in Spanish | IBECS | ID: ibc-75428

ABSTRACT

El hemangioma occipital es, tras los linfangiomas, el tipode tumoración más frecuente en cabeza y cuello. Su diagnósticoecográfico suele establecerse en el tercer trimestre o finalesdel segundo trimestre siendo útil la resonancia magnética(RM) prenatal para la confirmación del mismo. Posnatalmente,la gran mayoría de los casos regresan espontáneamente si bienpueden persistir y complicarse requiriendo exéresis quirúrgica.Presentamos el caso del hemangioma fetal de involuciónrápida (RICH, Rapidly Involuting Congenital Hemangioma) anivel occipital diagnosticado por ecografía en el tercer trimestrede gestación así como una revisión de la literaturadestacando los puntos clave para su diagnóstico diferencial,manejo prenatal, conducta obstétrica y tratamiento posnatal(AU)


Occipital hemangioma is one of the most frequentfetal head and neck tumors, second only to lymphangiomas.Diagnose is usually established in the third or inthe late second trimester of pregnancy. Prenatal MRIallowsdiagnosis confirmation. Vast majority of fetal hemangiomasregress spontaneously in the first year afterdelivery. However, persistence is a possibility, and theymight present complications, such as bleeding or ulcerations,in which case surgical treatment is warranted.We report a case of rapidly involuting congenitalhemangioma (RICH) in the occipital region of fetal craniumdiagnosed on a routine third timester fetal ultrasoundscan. We also present a review of available literature,outlining the key points to differential diagnosis,prenatal, obstetric and postnatal management(AU)


Subject(s)
Humans , Male , Female , Pregnancy , Hemangioma/congenital , Hemangioma/genetics , Lymphangioma/genetics , Lymphangioma/pathology , Diagnosis, Differential , Pregnancy Trimester, Third/genetics , Prenatal Diagnosis/methods , Prenatal Diagnosis/trends , Occipital Lobe/abnormalities , Occipital Lobe/embryology , Lymphangioma, Cystic/diagnosis , Lymphangioma, Cystic/genetics , Magnetic Resonance Imaging/methods
16.
Restor Neurol Neurosci ; 25(2): 161-75, 2007.
Article in English | MEDLINE | ID: mdl-17726275

ABSTRACT

PURPOSE: Fetal occipital allografts implanted into the posterior cortex of adult mice project massively throughout the ipsilateral pallium of the host, but rarely outside this domain (Gaillard et al., 2004). The present study was undertaken to examine in detail whether this pattern is specific to graft location. METHODS: Cortical fragments corresponding to presumptive occipital areas were harvested from E15 mice fetuses expressing ubiquitously the eGFP protein, and implanted in correct (homotopic) and incorrect (heterotopic) cortical loci in wild-type adults. Two months later, efferents were detected by immunohistochemistry and quantified on selected DAB-treated sections. RESULTS: The present findings show (i) that robust projections are present in the ipsilateral host cortex regardless of the graft location; (ii) that 55% the grafts located in parietal and frontal cortices have obvious but sparse callosal and subcortical projections; and (iii) that grafts placed in occipital areas never contact ipsilateral subcortical targets, likely because graft-related axons are unable to cross obliquely the thalamocortical fascicles in the underlying white matter. CONCLUSIONS: These puzzling results question the use of transplantation strategies for repairing damaged networks in adults where rewiring involves complex white matter trajectories.


Subject(s)
Brain/physiology , Fetal Tissue Transplantation , Occipital Lobe/embryology , Synaptic Transmission , Transplantation, Heterotopic , Visual Pathways/physiology , Animals , Biotin/analogs & derivatives , Dextrans , Embryonic Structures/physiology , Fluorescent Dyes , Frontal Lobe/physiology , Green Fluorescent Proteins , Immunohistochemistry , In Vitro Techniques , Mice , Parietal Lobe/physiology , Transplantation, Homologous
17.
Pediatr Radiol ; 37(4): 391-5, 2007 Apr.
Article in English | MEDLINE | ID: mdl-17287953

ABSTRACT

We report a fetus of 28 weeks' gestation in which ultrasonography demonstrated unilateral ventriculomegaly and microcephaly. Fetal MRI demonstrated a simple, left paramedian occipital cyst with rarefaction of the corpus callosum and thinning of the adjacent cortical mantle. Ischaemia was suggested as the underlying pathogenesis, but autopsy after termination of pregnancy revealed a glioependymal cyst. This case highlights consideration of the rare diagnosis of glioependymal cyst when a cystic lesion associated with cerebral malformations, particularly dysgenesis of the corpus callosum, is demonstrated and fetal MRI suggests an ischaemic origin.


Subject(s)
Brain Diseases/diagnosis , Cerebral Ventricles/diagnostic imaging , Cysts/diagnosis , Ependyma/embryology , Fetal Diseases/diagnosis , Magnetic Resonance Imaging , Prenatal Diagnosis , Ultrasonography, Prenatal , Adult , Agenesis of Corpus Callosum , Brain Diseases/diagnostic imaging , Brain Ischemia/diagnosis , Cysts/diagnostic imaging , Ependyma/diagnostic imaging , Female , Fetal Diseases/diagnostic imaging , Humans , Occipital Lobe/diagnostic imaging , Occipital Lobe/embryology , Pregnancy
18.
J Radiol ; 87(1): 49-55, 2006 Jan.
Article in French | MEDLINE | ID: mdl-16415780

ABSTRACT

PURPOSE: Define normal sulcation patterns and their chronological order of appearance on transabdominal ultrasound by comparing them with brain maturation references available in fetopathological studies and MRI findings. PATIENTS AND METHODS: By means of a prospective study, 158 normal fetal brains aged 21 to 34 gestational weeks have been analyzed with standardized data by transabdominal ultrasound in eleven different views using axial, coronal and sagittal orientation. RESULTS: The sequential development of cerebral sulci has been described according to the gestational age. This chronology was consistent with anatomo-pathologic references presenting a mean late period of one week and with MRI but without any late period. This study is available on the following website: CONCLUSION: This ultrasound study provides accurate landmarks and imaging features of normal fetal brain sulcation. The analysis and the knowledge of this sulcation provide better understanding of the brain cortex maturation and may be helpful in diagnosing brain diseases.


Subject(s)
Brain/embryology , Echoencephalography , Fetus/anatomy & histology , Ultrasonography, Prenatal , Corpus Callosum/embryology , Female , Fetal Development , Frontal Lobe/embryology , Gestational Age , Humans , Magnetic Resonance Imaging , Occipital Lobe/embryology , Pregnancy , Prospective Studies , Temporal Lobe/embryology , Thalamus/embryology
19.
Cereb Cortex ; 15(12): 2021-8, 2005 Dec.
Article in English | MEDLINE | ID: mdl-15800025

ABSTRACT

The correct size of the different areas composing the mature cerebral cortex depends on the proper early allocation of cortical progenitors to their distinctive areal fates, as well as on appropriate subsequent tuning of their area-specific proliferation-differentiation profiles. Whereas much is known about the genetics of the former process, the molecular mechanisms regulating proliferation and differentiation rates within distinctive cortical proto-areas are still largely obscure. Here we show that a mutual stimulating loop, involving Emx2 and canonical Wnt signalling, specifically promotes expansion of the occipito-hippocampal anlage. Collapse of this loop occurring in Emx2-/- mutants leads progenitors within this region to slow down DNA synthesis and exit prematurely from the cell cycle, due to misregulation of cell cycle-, proneural- and lateral inhibition-molecular machineries, and eventually results in dramatic and selective size-reduction of occipital cortex and hippocampus. Reactivation of canonical Wnt signalling in the same mutants rescues a subset of molecular abnormalities and corrects differentiation rates of occipito-hippocampal progenitors.


Subject(s)
Hippocampus/embryology , Homeodomain Proteins/genetics , Homeodomain Proteins/metabolism , Occipital Lobe/embryology , Wnt Proteins/metabolism , Animals , Cell Differentiation/physiology , Cell Division/physiology , Gene Expression Regulation, Developmental , Hippocampus/cytology , Hippocampus/metabolism , Mice , Mice, Mutant Strains , Neurons/cytology , Occipital Lobe/cytology , Occipital Lobe/metabolism , Signal Transduction/physiology , Stem Cells/cytology , Transcription Factors
20.
Exp Neurol ; 180(2): 110-22, 2003 Apr.
Article in English | MEDLINE | ID: mdl-12684025

ABSTRACT

Fetal neurons (embryonic age E16) of occipital origin grafted in the visual cortex of albino rats at increasing postnatal stages (P0, P7, P15, P30, P60, P120) can be activated by photic stimulation. Inputs originate from five major areas of the brain ipsilateral to the graft, namely, the claustrum, the periallocortex/proisocortex, the isocortex, the visual thalamus, and some unspecific subthalamic and hypothalamic nuclei. All inputs decrease in number with the age at which grafting was performed. Isocortical afferents exhibit furthermore a progressive laminar shaping. In neonates, layer II-III and layer V-VI neurons contribute equally to the graft input. In adults, grafts receive prominent input (approximately 70-80%) from layer VI neurons whereas layer II-III neurons account for less than 10%. Proportions of layer IV (approximately 2-4%) and layer V (approximately 15-20%) neurons innervating the graft remain stable, irrespective of the age of the recipient. The adult pattern of connectivity between the host brain and the graft establishes in frontal and temporal areas 1 week earlier than in occipital areas. It is nearly completed in postnatal day 15 (P15) grafted recipients. Supragranular neurons would be thus unable to innervate and to make stable synapses at the graft level beyond P15, i.e., when eyes open. Some infragranular neurons (supposedly remnants of the earliest generated cortical cell population) still have this capacity in adults.


Subject(s)
Axons/physiology , Graft Survival/physiology , Neurons/transplantation , Occipital Lobe/transplantation , Visual Pathways/physiology , Age Factors , Animals , Brain Tissue Transplantation , Cerebral Decortication , Electrophysiology , Eye/innervation , Female , Fetal Tissue Transplantation , Neurons/cytology , Neurons/physiology , Occipital Lobe/embryology , Occipital Lobe/surgery , Photic Stimulation , Rats , Rats, Wistar , Visual Pathways/anatomy & histology , Visual Pathways/growth & development
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