RESUMEN
Dysgenesis of the corpus callosum is a rare developmental abnormality in brain structure that is associated with changes in physical appearance, as well as behavioral and cognitive consequences. A relatively commonly co-occurring structural abnormality with callosal dysgenesis is colpocephaly, characterized by enlargement of the posterior lateral ventricles and reductions in posterior brain volume. Although some case studies of individuals with this combination of structural malformations exist, they do not often report results of neuropsychological evaluation. Furthermore, those that do contain neuropsychological data may be of limited generalizability due to unique patient characteristics. The current manuscript overcomes these limitations by presenting the case of a 55-year-old male with callosal dysgenesis and colpocephaly identified in adulthood. The paper includes a full profile of his performance on a comprehensive neuropsychological test battery with discussion of differential diagnosis and treatment planning. Findings indicated low average intellectual abilities with deficits in processing speed, executive functions, and social cognition, consistent with expectations based on callosal dysgenesis. One surprising finding was that despite the significant posterior involvement of colpocephaly, visuospatial skills were a relative strength. The manuscript provides a clear characterization of callosal dysgenesis with colpocephaly to facilitate future clinical comparisons and set the stage for future research on this rare neuromorphological presentation.
Asunto(s)
Cuerpo Calloso , Ventrículos Laterales , Adulto , Agenesia del Cuerpo Calloso/complicaciones , Agenesia del Cuerpo Calloso/diagnóstico , Agenesia del Cuerpo Calloso/psicología , Encéfalo , Encefalopatías , Cuerpo Calloso/diagnóstico por imagen , Humanos , Ventrículos Laterales/anomalías , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Pruebas NeuropsicológicasRESUMEN
INTRODUCTION: Ultrasound (US)-based indexes such as fronto-occipital ratio (FOR) can be used to obtain an acceptable estimation of ventricular volume. Patients with colpocephaly present a unique challenge due to the shape of their ventricles. In the present study, we aimed to evaluate the validity and reproducibility of the modified US-FOR index in children with Chiari II-related ventriculomegaly. METHODS: In this retrospective study, we evaluated Chiari II patients younger than 1 year who underwent head US and MR or CT scans for ventriculomegaly evaluation. MR/CT-based FOR was measured in the axial plane by identifying the widest diameter of frontal horns, occipital horns, and the interparietal diameter (IPD). US-based FOR (US-FOR) was measured using the largest diameter based on the following landmarks: frontal horn and IPD in the coronal plane at the level of the foramen of Monro, IPD just superior to the Sylvian fissures, and occipital horn posterior to the thalami and inferior to the superior margins of the thalami. Intraclass correlation coefficients (ICCs) were used to evaluate inter-rater reliability, and Pearson correlation coefficients and Bland-Altman plots were applied to assess agreement between US and other two modalities. RESULTS: Sixty-three paired US and MR/CT exams were assessed for agreement between US-FOR and MR/CT-FOR measurements. ICC showed an excellent inter-rater reliability for US-FOR (ICC = 0.99, p < 0.001) and MR/CT-FOR (ICC = 0.99, p < 0.001) measurements. The mean (range) values based on US-FOR showed a slight overestimation in comparison with MR/CT-FOR (0.51 [0.36-0.68] vs. 0.46 [0.34-0.64]). The Pearson correlation coefficient showed high cross-modality agreement for the FOR index (r = 0.83, p < 0.001). The Bland-Altman plot showed excellent concordance between US-FOR and MR/CT-FOR with a bias of 0.05 (95% CI: -0.03 to 0.13). CONCLUSION: US-FOR in the coronal plane is a comparable tool for evaluating ventriculomegaly in Chiari II patients when compared with MR/CT-FOR, even in the context of colpocephaly.
Asunto(s)
Hidrocefalia , Encefalopatías , Niño , Humanos , Hidrocefalia/diagnóstico por imagen , Ventrículos Laterales/anomalías , Imagen por Resonancia Magnética , Reproducibilidad de los Resultados , Estudios Retrospectivos , Tomografía Computarizada por Rayos XRESUMEN
Corpus callosum anomalies (CCA) is a common congenital brain anomaly with various etiologies. Although one of the most important etiologies is genetic factors, the genetic background of CCA is heterogenous and diverse types of variants are likely to be causative. In this study, we analyzed 16 Japanese patients with corpus callosum anomalies to delineate clinical features and the genetic background of CCAs. We observed the common phenotypes accompanied by CCAs: intellectual disability (100%), motor developmental delay (93.8%), seizures (60%), and facial dysmorphisms (50%). Brain magnetic resonance imaging showed colpocephaly (enlarged posterior horn of the lateral ventricles, 84.6%) and enlarged supracerebellar cistern (41.7%). Whole exome sequencing revealed genetic alterations in 9 of the 16 patients (56.3%), including 8 de novo alterations (2 copy number variants and variants in ARID1B, CDK8, HIVEP2, and TCF4) and a recessive variant of TBCK. De novo ARID1B variants were identified in three unrelated individuals, suggesting that ARID1B variants are major genetic causes of CCAs. A de novo TCF4 variant and somatic mosaic deletion at 18q21.31-qter encompassing TCF4 suggest an association of TCF4 abnormalities with CCAs. This study, which analyzes CCA patients usung whole exome sequencing, demonstrates that comprehensive genetic analysis would be useful for investigating various causal variants of CCAs.
Asunto(s)
Agenesia del Cuerpo Calloso/diagnóstico , Encéfalo/diagnóstico por imagen , Anomalías Congénitas/diagnóstico , Malformaciones del Sistema Nervioso/diagnóstico , Adolescente , Adulto , Agenesia del Cuerpo Calloso/complicaciones , Agenesia del Cuerpo Calloso/genética , Agenesia del Cuerpo Calloso/patología , Encéfalo/patología , Encefalopatías/complicaciones , Encefalopatías/diagnóstico , Encefalopatías/genética , Encefalopatías/patología , Niño , Preescolar , Anomalías Congénitas/genética , Anomalías Congénitas/patología , Cuerpo Calloso/diagnóstico por imagen , Cuerpo Calloso/patología , Variaciones en el Número de Copia de ADN/genética , Femenino , Humanos , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Japón , Ventrículos Laterales/anomalías , Ventrículos Laterales/patología , Masculino , Trastornos Motores/complicaciones , Trastornos Motores/diagnóstico , Trastornos Motores/genética , Trastornos Motores/patología , Mutación/genética , Malformaciones del Sistema Nervioso/complicaciones , Malformaciones del Sistema Nervioso/genética , Malformaciones del Sistema Nervioso/patología , Fenotipo , Secuenciación del Exoma , Adulto JovenRESUMEN
Colpocephaly is a form of congenital ventriculomegaly while porencephaly describes any full-thickness defect within the brain which usually presents as a cystic structure. Postulated aetologies include intrauterine/perinatal injuries, genetic disorders, and morphogenesis error. Colopocephaly and porencephaly is typically diagnosed in infancy while diagnosis in adulthood is exceptionally rare. We report a case of co-existence of colpocephaly with porencephaly diagnosed incidentally in a 54-year-old male presenting with subtle cognitive and neurologic abnormalities. Neuropsychological assessment revealed weaknesses in executive functions, processing speed, and language.To our knowledge, this is the only reported case of dual incidental findings of porencephaly and colpocephaly in an adult.
Asunto(s)
Encefalopatías , Disfunción Cognitiva , Ventrículos Laterales/anomalías , Porencefalia , Edad de Inicio , Encefalopatías/complicaciones , Encefalopatías/diagnóstico , Encefalopatías/patología , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/etiología , Disfunción Cognitiva/fisiopatología , Humanos , Ventrículos Laterales/patología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Porencefalia/complicaciones , Porencefalia/diagnóstico , Porencefalia/patologíaAsunto(s)
Acné Vulgar/genética , Agenesia del Cuerpo Calloso/genética , Síndromes Orofaciodigitales/genética , Proteínas/genética , Acné Vulgar/etiología , Agenesia del Cuerpo Calloso/diagnóstico por imagen , Agenesia del Cuerpo Calloso/etiología , Femenino , Mutación del Sistema de Lectura , Humanos , Lactante , Ventrículos Laterales/anomalías , Ventrículos Laterales/diagnóstico por imagen , Síndromes Orofaciodigitales/complicaciones , Síndromes Orofaciodigitales/diagnósticoRESUMEN
Biallelic mutations in the RTTN gene have been reported in association with microcephaly, short stature, developmental delay and malformations of cortical development. RTTN mutations have previously shown to link aberrant ciliary function with abnormal development and organization of the human cerebral cortex. We here report three individuals from two unrelated families with novel mutations in the RTTN gene. The phenotype consisted of microcephaly, short stature, pachygyria or polymicrogyria, colpocephaly, hypoplasia of the corpus callosum and superior vermis. These findings provide further confirmation of the phenotype related to pathogenic variants in RTTN.
Asunto(s)
Encefalopatías/genética , Proteínas Portadoras/genética , Enanismo/genética , Ventrículos Laterales/anomalías , Microcefalia/genética , Adolescente , Adulto , Agenesia del Cuerpo Calloso/genética , Agenesia del Cuerpo Calloso/patología , Encefalopatías/patología , Proteínas de Ciclo Celular , Corteza Cerebral/patología , Niño , Preescolar , Cuerpo Calloso/patología , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/patología , Enanismo/patología , Femenino , Humanos , Lactante , Ventrículos Laterales/patología , Masculino , Microcefalia/patología , Malformaciones del Sistema Nervioso/genética , Malformaciones del Sistema Nervioso/patología , Adulto JovenRESUMEN
Objective: To evaluate the clinical outcome of fetus diagnosed as mild and moderate isolated ventriculomegaly (IVM) and its correlation with imaging follow-up. Methods: Totally, 161 cases of single pregnancy whose fetus was diagnosed as mild or moderate IVM by ultrasound were administrated. Data of prenatal ultrasound examination, pregnancy outcomes, and the postnatal MRI results were collected. New borns' growth and development, language expression, movement coordination, auditory and visual function were followed up to evaluate the neurodevelopment. Results: (1) Before birth: 80.1% (129/161) of IVM disappeared before the delivery, 16.1% (26/161) remained stable, and 3.7% (6/161) continued to deteriorate. (2) Postnatal MRI: 8 cases (9.6%, 8/83) were diagnosed IVM, of which 3 cases were found additional abnormalities (1 case was the corpus callosum dysplasia and 2 cases were leukodystrophy) . The additional abnormal detection rate was 3/8. (3) Postnatal assessments: There were 7 cases (8.9%, 7/79) neunatal behavioral neurological assessment (NBNA) , 6 cases (7.6%, 6/79) Bayley scales of infant development (BSID) -psychomotor developmental index (PDI) and 3 cases (3.8%, 3/79) BSID-mental development index (MDI) whose scores were low. There was no significant difference of the NBNA and BSID scores between mild and moderate IVM (NBNA: χ(2)=2.042, P=0.210; BSID-PDI: χ(2)=-1.359, P=0.174; BSID-MDI: χ(2)=-1.205, P=0.228) . Follow-up of 9 cases (11.4%, 9/79) with low BSID score, 6 of them were found to be stable in the medial ventricle of the uterus, and the size of the lateral ventricle was normal after birth by ultrasound and MRI. Conclusions: The majority of IVM fetuses have good prognosis, but there is also a risk of neurodevelopmental dysplasia. The postnatal follow-up should be paid attention to, and MRI should be performed as the postnatal imaging evaluation.
Asunto(s)
Hidrocefalia/diagnóstico por imagen , Ventrículos Laterales/anomalías , Ventrículos Laterales/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Ultrasonografía Prenatal/métodos , Femenino , Feto/diagnóstico por imagen , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Malformaciones del Sistema Nervioso/diagnóstico por imagen , Embarazo , Resultado del Embarazo , Diagnóstico Prenatal , PronósticoRESUMEN
PURPOSE: The aim of our study was to assess the agreement between pre- and post-natal measurements in prenatal isolated ventriculomegaly. METHODS: Ninety-two women were referred for lateral ventricular abnormality and followed prospectively. Cases with at least one dilated lateral ventricle ≥10 mm and a normal work up (serological tests, detailed anatomical scan, fetal brain MR imaging, genetic counseling, and amniocentesis) were considered idiopathic ventriculomegaly and comprised the study group for post-natal follow up. Prenatal measurements were performed by ultrasound and MR imaging. Post-natal measurements were performed by cranial sonography at age of 1-3 months. Measurements were performed in the customary plane for each modality. Paired Student's t test was used to assess the mean difference between pre- and postnatal measurements. RESULTS: Forty three cases comprised the study group for post-natal measurements. A statistically significant decrease in ventricular width (p < .001) was observed between pre- and post-natal measurements. On clinical follow up for 24 months, all cases were normal except three who demonstrated very mild neurological deficits. CONCLUSIONS: Our study indicates statistically significant regression of prenatal isolated ventriculomegaly in the post-natal period.
Asunto(s)
Hidrocefalia/diagnóstico por imagen , Ventrículos Laterales/diagnóstico por imagen , Imagen por Resonancia Magnética , Ultrasonografía Prenatal , Progresión de la Enfermedad , Femenino , Enfermedades Fetales/diagnóstico por imagen , Edad Gestacional , Humanos , Hidrocefalia/patología , Lactante , Recién Nacido , Ventrículos Laterales/anomalías , Ventrículos Laterales/patología , Masculino , Embarazo , Estudios ProspectivosRESUMEN
OBJECTIVE: Isolated agenesis of the corpus callosum on fetal ultrasound has a varied prognosis. Microarray and exome sequencing (ES) might aid in prenatal counseling. METHOD: This study includes 25 fetuses with apparently isolated complete corpus callosum (cACC) on ultrasound. All cases were offered single nucleotide polymorphism array. Complementary ES was offered postnatally in selected cases. Clinical physical and neurodevelopmental follow-up was collected. RESULTS: Eighteen cases opted for single nucleotide polymorphism array testing, which detected a causal anomaly in 2/18 (11.1%; 95% CI 2.0%-31%). Among ongoing pregnancies without a causal anomaly on microarray, 30% (95% CI 8.5%-60%) showed intellectual disability. Postnatal magnetic resonance imaging and physical examination often (64%; 95% CI 38%-85%, and 64%; 95% CI 38%-85%, respectively) revealed additional physical anomalies in cases without a causal anomaly on microarray. Two cases appeared truly isolated after birth. Postnatal sequencing in 4 of 16 cases without a causal anomaly on microarray but with intellectual disability and/or additional postnatal physical anomalies revealed 2 single-gene disorders. Therefore, the estimated diagnostic yield of ES in chromosomally normal cACC fetuses is between 2/4 (50%; 95% CI 11%-89%) and 2/16 (13.3%; 95% CI 2.4%-36%). CONCLUSION: In accordance with current guidelines, we conclude that microarray should be offered in case of isolated cACC on ultrasound. ES is likely to be informative for prenatal counseling and should be offered if microarray is normal.
Asunto(s)
Agenesia del Cuerpo Calloso/genética , Pruebas Genéticas , Adulto , Agenesia del Cuerpo Calloso/diagnóstico por imagen , Encefalopatías/diagnóstico por imagen , Estudios de Cohortes , Femenino , Asesoramiento Genético , Humanos , Ventrículos Laterales/anomalías , Ventrículos Laterales/diagnóstico por imagen , Imagen por Resonancia Magnética , Análisis de Secuencia por Matrices de Oligonucleótidos , Polimorfismo de Nucleótido Simple , Embarazo , Análisis de Secuencia de ADN , Ultrasonografía PrenatalRESUMEN
Objective: To explore the value of prenatal MRI in the diagnosis of fetal simple expansion of lateral ventricle (ventriculomegaly) , and follow up the nervous system development status after birth. Methods: Simple expansion of the lateral ventricle fetus by prenatal MRI examination were collected in Huzhou Maternal and Child Care Hospital from May 2013 to June 2015, 126 cases of live births in expansion group, 50 normal cases were recruited in the same period as the control group. In expansion group, fetal subgroup analysis was done: (1) unilateral or bilateral lateral ventricle expasion: one group was 98 cases was lateral ventricle expansion (77.8%, 98/126), expansion of bilateral ventricle group was 28 cases (22.2%, 28/126). (2) Prenatal MRI in the diagnosis of the lateral ventricle of expansion: expansion of the lateral ventricle width was greater than 10.0 mm, if both sides were expanding, the expand width was the heavier one side, divided into 3 subgroups: â Expansion in group A (lateral ventricle width 10.0-12.0 mm) were 88 cases (69.8%, 88/126). â¡Expansion in group B (lateral ventricle width 12.1-15.0 mm) were 29 cases (23.0%, 29/126). â¢Expansion of group C (lateral ventricle width> 15.0 mm) were 9 cases (7.12%, 9/126). All 176 cases were followed up after birth at the 3rd, 6th, 12th, 18th month (corrected age was used for premature babies), and Gesell developmental schedules (GDS) were used to evaluate the neurobehavioral development. Results: (1) The MRI results after birth: 21 cases were followed up by MRI after birth. In group A, 11 cases had MRI and 9 were normal (the ventricular width <10.0 mm after birth), the other 2 cases were stable (the ventricular width measured first time after birth was ≥10.0 mm, but the difference was within 2.0 mm from the MRI before birth). In group B, 4 cases had MRI, 1 was normal, 1 was stable, and 2 cases were getting better (the ventricular width measured first time after birth was ≥10.0 mm, but the width decreased more than 2.0 mm from the MRI before birth). In group C, 6 cases had MRI. 3 cases were getting better and 3 cases were stable. (2) Overall GDS results: expansion group after the birth of the 3rd, 6th, 12th, 18th month GDS evaluation results compared with control group, respectively, the differences were not statistically significant (all P>0.05). (3) The GDS results among the subgroups: in each evaluation after birth, there were no statistically significant differences between group A and the control group (all P>0.05). The GDS results of group B at the 3rd and 6th month were lower than those of the control group (P<0.05); while there were no statistically significant differences between the 2 goups at the 12th and 18th month (P>0.05). And for group C, statistically significant differences were found compared to the control group at each follow-up time (all P<0.05). (4) GDS results at different times after birth in the expansion group: there was no statistically significant difference between the results at the 3rd and 6th month (P>0.05). But when the result at the 3rd month was compared to the results of the 12th or 18th month, the differences were statistically significant (P<0.05). GDS result of 6th months after birth compared with 12th and 18th months, respectively, there were no statistically significant differences (P>0.05). There was no statistically significant difference between the results at the 12th and 18th month (P>0.05). (5) The GDS results in unilateral and bilateral ventricle expansion: at the 18th month, among the 98 unilateral cases, 86 (87.8%, 86/98) had normal GDS results(>85 scores); 8 (8.2%, 8/98) had borderline results (75-85 scores); 4 (4.1%, 4/98) had delayed results (<75 scores). Among the 28 bilateral cases, 23 (82.1%, 23/28) had normal GDS results; 3 (10.7%, 3/28) had borderline results; 2 (7.1%, 2/28) had delayed results. There was no statistically significant difference (P>0.05). Conclusions: Among the simple expansion of lateral ventricle, those whose ventricular width are ≤12.0 mm may not need clinical treatment. If the width is between 12.1 to 15.0 mm, closely follow-up and targeted rehabilitation training after birth are recommended. When the width is more than 15.0 mm, the risk of the central nervous system function delay is significantly increased, and early intervention might improve the prognosis.
Asunto(s)
Hidrocefalia/diagnóstico por imagen , Ventrículos Laterales/anomalías , Ventrículos Laterales/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Diagnóstico Prenatal/métodos , Ultrasonografía Prenatal/métodos , Estudios de Casos y Controles , Femenino , Feto/diagnóstico por imagen , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Embarazo , Resultado del Embarazo , PronósticoRESUMEN
BACKGROUND AND PURPOSE: Fetal lateral ventriculomegaly is a relatively common finding with much debate over its clinical significance. The purpose of this study was to examine the association between ventriculomegaly and asymmetry and concomitant CNS findings as seen in fetal brain MR imaging. MATERIALS AND METHODS: Fetal brain MR imaging performed for various indications, including ventriculomegaly, with or without additional ultrasound findings, was assessed for possible inclusion. Two hundred seventy-eight cases found to have at least 1 lateral ventricle with a width of ≥10 mm were included in the study. Ventriculomegaly was considered mild if the measurement was 10-11.9 mm; moderate if, 12-14.9 mm; and severe if, ≥15 mm. Asymmetry was defined as a difference of ≥2 mm between the 2 lateral ventricles. Fetal brain MR imaging findings were classified according to severity by predefined categories. RESULTS: The risk of CNS findings appears to be strongly related to the width of the ventricle (OR, 1.38; 95% CI, 1.08-1.76; P = .009). The prevalence of associated CNS abnormalities was significantly higher (P = .005) in symmetric ventriculomegaly compared with asymmetric ventriculomegaly (38.8% versus 24.2%, respectively, for all CNS abnormalities and 20% versus 7.1%, respectively, for major CNS abnormalities). CONCLUSIONS: In this study, we demonstrate that the rate of minor and major findings increased with each millimeter increase in ventricle width and that the presence of symmetric ventricles in mild and moderate ventriculomegaly was a prognostic indicator for CNS abnormalities.
Asunto(s)
Encéfalo/anomalías , Encéfalo/diagnóstico por imagen , Ventrículos Cerebrales/diagnóstico por imagen , Feto/anomalías , Feto/diagnóstico por imagen , Adulto , Encéfalo/patología , Enfermedades del Sistema Nervioso Central/diagnóstico por imagen , Ventrículos Cerebrales/patología , Estudios Transversales , Femenino , Feto/patología , Lateralidad Funcional , Humanos , Recién Nacido , Ventrículos Laterales/anomalías , Imagen por Resonancia Magnética , Embarazo , Pronóstico , Estudios Retrospectivos , Ultrasonografía PrenatalRESUMEN
Fetal ventriculomegaly development leads to neurological, motor, and/or cognitive impairment, and is presently diagnosed based on the width of the atrium in the lateral ventricle. But in this study, we have tried to assess the relationship between the development of calcarine sulcus and width of fetal lateral ventricles, to assess if calcarine sulcus can also be used for fetal ventriculomegaly diagnosis. We conducted a retrospective analysis of the magnetic resonance imaging (MRI) data from 45 subjects with isolated mild fetal ventriculomegaly (IMVM). The calcarine sulcus development was divided into three categories based on the depth; Grade 1 (undeveloped), Grade 2 (underdeveloped), and Grade 3 (fully developed), and its correlation with fetal ventriculomegaly was analyzed based on Spearman's partial rank correlation test. Based on this analysis, the width of left and right lateral ventricles showed significant downward trend with the calcarine sulcus maturation [undeveloped (Left 13.88 ± 2.70 mm, Right 14.27 ± 3.13 mm) â underdeveloped (Left 12.95 ± 1.93 mm, Right 11.93 ± 2.24 mm) â fully developed (Left 11.06 ± 2.10 mm, Right 10.42 ± 2.10 mm)] (FLeft = 5.12, P = 0.01; FRight = 10.72, P = 1.73 × 10-4 ). In addition, significant correlations were also observed between the width of the lateral ventricles and the maturity of the calcarine sulcus (Spearman's rank correlation coefficient; -0.47 for the left lateral ventricles and -0.56 for the right, both P < 0.001). Overall, our data indicated a negative correlation between the fetal morphological development of calcarine sulcus and the width of lateral ventricles in subjects having isolated fetal ventriculomegaly.
Asunto(s)
Ventrículos Cerebrales/patología , Enfermedades Fetales/patología , Hidrocefalia/patología , Ventrículos Laterales/patología , Lóbulo Occipital/anomalías , Adulto , Ventrículos Cerebrales/anomalías , Ventrículos Cerebrales/diagnóstico por imagen , Femenino , Enfermedades Fetales/diagnóstico por imagen , Edad Gestacional , Humanos , Hidrocefalia/diagnóstico por imagen , Procesamiento de Imagen Asistido por Computador , Ventrículos Laterales/anomalías , Ventrículos Laterales/diagnóstico por imagen , Lóbulo Occipital/diagnóstico por imagen , Lóbulo Occipital/patología , Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , Adulto JovenRESUMEN
To clarify the pathogenesis of two different types of adult-onset normal-pressure hydrocephalus (NPH), we investigated cerebrospinal fluid distribution on the high-field three-dimensional MRI. The subarachnoid spaces in secondary NPH were smaller than those in the controls, whereas those in idiopathic NPH were of similar size to the controls. In idiopathic NPH, however, the basal cistern and Sylvian fissure were enlarged in concurrence with ventricular enlargement towards the z-direction, but the convexity subarachnoid space was severely diminished. In this article, we provide evidence that the key cause of the disproportionate cerebrospinal fluid distribution in idiopathic NPH is the compensatory direct CSF communication between the inferior horn of the lateral ventricles and the ambient cistern at the choroidal fissure. In contrast, all parts of the subarachnoid spaces were equally and severely decreased in secondary NPH. Blockage of CSF drainage from the subarachnoid spaces could cause the omnidirectional ventricular enlargement in secondary NPH.
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Pérdida de Líquido Cefalorraquídeo/fisiopatología , Plexo Coroideo/anomalías , Hidrocéfalo Normotenso/patología , Ventrículos Laterales/anomalías , Espacio Subaracnoideo/anomalías , Edad de Inicio , Anciano , Anciano de 80 o más Años , Pérdida de Líquido Cefalorraquídeo/diagnóstico por imagen , Plexo Coroideo/diagnóstico por imagen , Plexo Coroideo/fisiopatología , Femenino , Humanos , Hidrocéfalo Normotenso/clasificación , Hidrocéfalo Normotenso/diagnóstico por imagen , Hidrocéfalo Normotenso/fisiopatología , Ventrículos Laterales/diagnóstico por imagen , Ventrículos Laterales/fisiopatología , Imagen por Resonancia Magnética/métodos , Masculino , Espacio Subaracnoideo/diagnóstico por imagen , Espacio Subaracnoideo/fisiopatologíaAsunto(s)
Encefalopatías/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Calcinosis/diagnóstico por imagen , Hidrocefalia/diagnóstico por imagen , Ventrículos Laterales/anomalías , Lisencefalia/diagnóstico por imagen , Microcefalia/diagnóstico por imagen , Complicaciones Infecciosas del Embarazo , Infección por el Virus Zika/diagnóstico por imagen , Adulto , Femenino , Humanos , Imagenología Tridimensional , Recién Nacido , Ventrículos Laterales/diagnóstico por imagen , Imagen por Resonancia Magnética , Masculino , Neuroimagen , Embarazo , Primer Trimestre del Embarazo , Impresión Tridimensional , Tomografía Computarizada por Rayos X , Ultrasonografía Prenatal , Infección por el Virus Zika/congénitoRESUMEN
Brain MRI scans revealed various occipital horn variants in a pedigreed baboon colony consisting of Papio hamadryas anubis and its hybrids. We retrospectively characterized these variants and evaluated their relationships to epilepsy phenotypes and scalp EEG findings. MRI scans (3D, T1-weighted) from 208 baboons (female, 134 female; male, 74; age [mean ± 1 SD], 16 ± 5 y) were reviewed; 139 (67%) of these animals also underwent scalp EEG previously. Occipital horn variants included elongation (extension of the occipital ventricle behind the mediobasal origin of the calcarine fissure), which affected 23 baboons (11%; 7 bilateral, 9 left, 7 right), and elongation with enlargement (colpocephaly), which occurred in 30 baboons (14%; 7 bilateral, 11 left, 12 right). The incidence of the occipital horn variants did not differ according to age or prenatal or perinatal history. Colpocephaly was associated with craniofacial trauma but not with witnessed seizures. Abnormal scalp EEG findings, including interictal epileptic discharges, did not differ significantly among the occipital horn morphologies. This study is the first radiologic description of occipital horn variants, particularly colpocephaly, in baboons. Whereas colpocephaly is frequently associated with other radiologic and neurologic abnormalities in humans, it is mostly an isolated finding in baboons. Because craniofacial trauma can occur in the setting of seizure-related falls, its increased association with colpocephaly may reflect an increased risk of seizures or of traumatic brain injuries due to seizures. Colpocephaly in baboons needs to be characterized prospectively radiologically, neurologically, histopathologically, and genetically to better understand its etiology and clinical significance.
Asunto(s)
Encefalopatías/veterinaria , Epilepsia/veterinaria , Ventrículos Laterales/anomalías , Imagen por Resonancia Magnética/veterinaria , Enfermedades de los Monos/diagnóstico por imagen , Animales , Encéfalo/diagnóstico por imagen , Encefalopatías/diagnóstico por imagen , Electroencefalografía/veterinaria , Epilepsia/diagnóstico por imagen , Femenino , Ventrículos Laterales/diagnóstico por imagen , Masculino , Papio , Fenotipo , Estudios RetrospectivosRESUMEN
OBJECTIVE: To investigate the relationship between fetal lateral ventriculomegaly and chromosomal microarray analysis (CMA) abnormalities. METHODS: Fifty fetuses with lateral ventriculomegaly detected by ultrasound and a normal karyotype were included. Forty four fetuses were classified as mild ventriculomegaly (MVM), in which the lateral ventricular atrium was 10-15 mm. Six had severe ventriculomegaly (SVM), with the lateral ventricularatrium being ≥ 15 mm. The fetuses were also divided into isolated (n= 21) and non-isolated groups (n= 29) based on whether they are associated with other anomalies. RESULTS: Thirteen (26%) of the fetuses were found to be abnormal by CMA. For the 44 cases with MVM, 9 (20.9% ) were found to be abnormal, while for the 6 cases with SMV, 4 (66.7%) were found to be abnormal (P>0.05). CMA abnormalities were found in 2 (9.5%) of the 21 fetuses with isolated ventriculomegaly group and 11 (37.9%) of the 29 fetuses with non-isolated ventriculomegaly group (P<0.05). CONCLUSION: Chromosome microdeletions and microduplications are the most common abnormalities found in fetal lateral ventriculomegaly. When ventriculomegaly is associated with other anomalies, the incidence of CMA abnormally is much higher. Prenatal diagnosis is necessary for fetuses with lateral ventriculomegaly.
Asunto(s)
Aberraciones Cromosómicas , Hidrocefalia/diagnóstico por imagen , Ventrículos Laterales/diagnóstico por imagen , Análisis por Micromatrices/métodos , Ultrasonografía Prenatal/métodos , Adulto , Deleción Cromosómica , Duplicación Cromosómica , Femenino , Edad Gestacional , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/genética , Ventrículos Laterales/anomalías , Ventrículos Laterales/metabolismo , Embarazo , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Adulto JovenRESUMEN
Absent circle of Willis (COW) has been described in cases of severe forms of cerebral developmental anomalies such as alobar prosencephaly. However, there are no reports of absent COW in patients with a milder form of cerebral abnormality such as colpocephaly. We report a unique case of an adult with colpocephaly and absent COW and discuss their association from a developmental perspective.
Asunto(s)
Encefalopatías/patología , Malformaciones Vasculares del Sistema Nervioso Central/patología , Círculo Arterial Cerebral/anomalías , Círculo Arterial Cerebral/patología , Ventrículos Laterales/anomalías , Adulto , Ganglios Basales/patología , Encéfalo/patología , Cuerpo Calloso/patología , Femenino , Humanos , Ventrículos Laterales/patología , Angiografía por Resonancia Magnética , Imagen por Resonancia Magnética , Convulsiones/etiología , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: Agenesis of the corpus callosum (ACC) is a developmental brain malformation associated with a wide spectrum of structural brain abnormalities and genetic loci. To characterize the diverse callosal morphologies and malformations of brain development associated with ACC, we report on the neuroimaging findings of 201 individuals diagnosed with corpus callosal abnormalities. METHODS: We searched through medical records of individuals seen at New York Presbyterian Hospital between 2002 and 2013 and thought to have ACC. We confirmed 201 individuals meeting criteria and used magnetic resonance imaging to characterize morphological variants of the corpus callosum and associated brain malformations. RESULTS: The majority of individuals displayed hypoplasia or dysplasia of the corpus callosum (N = 160, 80 %). Forty-one (20 %) displayed complete agenesis of the corpus callosum with other abnormalities, while only 18 (9 %) displayed complete agenesis without associated brain abnormalities. White matter abnormalities were more frequent in hypoplasia or dysplasia group than complete agenesis (28.2 % vs 9.8 %, p < 0.05). In contrast, hippocampal abnormalities, colpocephaly, and Probst bundles were significantly more frequent in complete agenesis compared to hypoplasia or dysplasia group. CONCLUSIONS: Collectively, our results underscore the broad diversity of morphological variants of the corpus callosum and associated brain abnormalities in individuals with ACC.
Asunto(s)
Anomalías Múltiples/patología , Agenesia del Cuerpo Calloso/patología , Encefalopatías/patología , Encéfalo/patología , Cuerpo Calloso/patología , Hipocampo/patología , Ventrículos Laterales/anomalías , Sustancia Blanca/patología , Adolescente , Adulto , Anciano , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Ventrículos Laterales/patología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Neuroimagen , Estudios Retrospectivos , Adulto JovenRESUMEN
La Ventriculomegalia Fetal es relevante dado que tiene una alta prevalencia e importante asociación con otras anomalías en el Sistema Nervioso Central. El enfoque perinatal está íntimamente ligado al desarrollo de la Medicina Materno Fetal e implica una evaluación precoz de la anatomía del SNC fetal, utilizando como herramienta de apoyo la ultrasonografía, se debe tener un claro conocimiento de la anatomía cerebral fetal, de los criterios diagnósticos y protocolos estandarizados de manejo clínico actual. Considerar el uso de Resonancia Nuclear Magnética Fetal como técnica complementaria, y proporcionar Consejo Médico a los padres apoyado en Equipos Multidisciplinarios. La presente Revisión tiene el propósito de ser una puesta al día, que sea útil para los profesionales clínicos.
The Fetal ventriculomegaly is relevant since it has a high prevalence and association with other anomalies in the Central Nervous System. The perinatal approach is closely linked to the development of Maternal-Fetal Medicine and involves an early assessment of the anatomy of fetal CNS, using as a support tool ultrasonography, one must have a clear understanding of the fetal brain anatomy, diagnostic criteria and standardized protocols current clinical management. Consider using Nuclear Magnetic Resonance Fetal as a complementary technique, and provide parents Medical Council supported by multidisciplinary teams. This review is an update that is useful for clinicians.