RESUMO
Turner syndrome (TS) is a common sex chromosome aneuploidy in females associated with various physical, cognitive, and socio-emotional phenotypes. However, few studies have examined TS-associated alterations in the development of cortical gray matter volume and the two components that comprise this measure-surface area and thickness. Moreover, the longitudinal direct (i.e., genetic) and indirect (i.e., hormonal) effects of X-monosomy on the brain are unclear. Brain structure was assessed in 61 girls with TS (11.3 ± 2.8 years) and 55 typically developing girls (10.8 ± 2.3 years) for up to 4 timepoints. Surface-based analyses of cortical gray matter volume, thickness, and surface area were conducted to examine the direct effects of X-monosomy present before pubertal onset and indirect hormonal effects of estrogen deficiency/X-monosomy emerging after pubertal onset. Longitudinal analyses revealed that, whereas typically developing girls exhibited normative declines in gray matter structure during adolescence, this pattern was reduced or inverted in TS. Further, girls with TS demonstrated smaller total surface area and larger average cortical thickness overall. Regionally, the TS group exhibited decreased volume and surface area in the pericalcarine, postcentral, and parietal regions relative to typically developing girls, as well as larger volume in the caudate, amygdala, and temporal lobe regions and increased thickness in parietal and temporal regions. Surface area alterations were predominant by age 8, while maturational differences in thickness emerged by age 10 or later. Taken together, these results suggest the involvement of both direct and indirect effects of X-chromosome haploinsufficiency on brain development in TS.
Assuntos
Síndrome de Turner , Humanos , Feminino , Síndrome de Turner/diagnóstico por imagem , Síndrome de Turner/psicologia , Imageamento por Ressonância Magnética , Encéfalo/diagnóstico por imagem , Substância Cinzenta/diagnóstico por imagem , MonossomiaRESUMO
AIM: Patients with Turner syndrome have a high rate of developmental dyscalculia, but the underlying neurocognitive mechanisms are not well-understood. Some studies have implicated visuospatial impairments in patients with Turner syndrome, but others have focused on poor procedural skills in patients with Turner syndrome. This study used brain imaging data to test these two alternative views. METHODS: This study recruited 44 girls with Turner syndrome (mean age, 12.91 years; SD, 2.02), with 13 (29.5%) of them meeting the criterion for developmental dyscalculia, and 14 normally developing girls (mean age, 14.26 years; SD, 2.18) as a comparison group. All participants were given basic mathematical ability tests and an intelligence test and were scanned using magnetic resonance imaging. We compared patients with Turner syndrome who had dyscalculia, patients with Turner syndrome who did not have dyscalculia, and the normal controls in terms of brain structures and resting-state functional activity. RESULTS: Compared with normal controls, both groups of patients with Turner syndrome (with or without dyscalculia) showed similarly altered functional connectivity in the occipitoparietal dorsal stream. Importantly, compared with patients with Turner syndrome without dyscalculia and normal controls, patients with Turner syndrome with dyscalculia showed decreased functional connectivity between the prefrontal and the lateral occipital cortex. CONCLUSION: We concluded that both groups of patients with Turner syndrome shared visual deficits, and patients with Turner syndrome with dyscalculia had a deficit in frontal cortex-based higher cognitive processing. It is not their visuospatial deficits but rather their deficits in higher cognitive processing that are responsible for the development of dyscalculia in patients with Turner syndrome.
Assuntos
Discalculia , Síndrome de Turner , Feminino , Humanos , Criança , Adolescente , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico por imagem , Discalculia/diagnóstico por imagem , Discalculia/etiologia , Encéfalo , Cognição , Córtex Pré-Frontal/diagnóstico por imagem , Imageamento por Ressonância MagnéticaRESUMO
Craniofacial features of 18 individuals with Turner Syndrome (TS) were compared with age and gender matched healthy individuals. Dental history, panoramic radiograph, dental casts and cephalometric measurements were assessed. The dental casts analysis showed a significantly higher PH/PW ratio in individuals with TS under GH therapy compared to healthy individuals (p=0.004; paired t-test). This data objectively supported the definition of a high-narrow palate. The ANB angle and the Wits index were similar in the two group, showing a skeletal class I malocclusion. The vertical characteristics did not differ between the two groups, showing a mesofacial growth pattern. Our results showed similar cephalometric characteristics in individuals with TS treated with GH and healthy controls.
Assuntos
Síndrome de Turner , Osso e Ossos , Cefalometria , Humanos , Síndrome de Turner/diagnóstico por imagemRESUMO
Turner syndrome is associated with an increased risk of aortic aneurysms and dissection. Recent 2017 clinical care guidelines recommend medical therapy to treat aortic dilatation, although whether this slows dilatation is unknown. We aimed to describe a pre-guideline cohort of Turner syndrome patients with aortic dilatation, the rate of dilatation following diagnosis, and post therapy dilatation rates. We conducted a retrospective review of Turner syndrome patients with a dilated aortic root or ascending aorta by current definitions. In total, 40 patients were included with 22 treated patients. Most patients had 45,X karyotype, were white, non-Hispanic, and received both growth hormone and estrogen. Except for hypertension, there were no differences in risk factors among treated and untreated groups. Bicuspid aortic valve was very common. Treatment group patients had significantly more dilated ascending aortas by absolute measurements and aortic size index. In an adjusted model, there was minimal change in aortic measures over time and this was not associated with medication use. In conclusion, in this cohort, Turner syndrome patients with aortic dilatation were more likely to be treated if they had hypertension and if they met multiple dilatation criteria. Further study is needed to establish medical therapy efficacy on dilatation progression.
Assuntos
Aorta/diagnóstico por imagem , Hipertensão/terapia , Síndrome de Turner/terapia , Adolescente , Adulto , Aorta/patologia , Criança , Pré-Escolar , Dilatação/métodos , Feminino , Humanos , Hipertensão/complicações , Hipertensão/patologia , Cariótipo , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico por imagem , Síndrome de Turner/patologia , Adulto JovemRESUMO
Turner syndrome is a genetic disorder associated with a variable range of cardiac congenital diseases. Out of these, unicuspid aortic valve is a rare malformation, related to premature aortic stenosis and its diagnosis represents a challenge with transthoracic echocardiography. The application of 3D echocardiography could facilitate the diagnosis, especially with transoesophageal approach. Moreover, cardiac computed tomography and cardiac magnetic resonance have demonstrated their usefulness for detection of aortic morphology. We report a case of young patient affected by Turner syndrome, with unicuspid aortic valve, identified by 3D transoesophageal echocardiography and confirmed by cardiac computed tomography. The patient was submitted to aortic valve replacement.
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Estenose da Valva Aórtica , Ecocardiografia Tridimensional , Doenças das Valvas Cardíacas , Síndrome de Turner , Valva Aórtica/diagnóstico por imagem , Estenose da Valva Aórtica/diagnóstico , Estenose da Valva Aórtica/diagnóstico por imagem , Ecocardiografia Transesofagiana , Humanos , Síndrome de Turner/diagnóstico , Síndrome de Turner/diagnóstico por imagemRESUMO
Sex chromosome aneuploidies (SCA) are associated with an increased risk for specific learning disorders (SLD). Individuals with Klinefelter Syndrome (KS) show an increased incidence of developmental dyslexia and individuals with Turner Syndrome (TS) are often affected by developmental dyscalculia. Accordingly, KS frequently coincides with verbal deficits, and TS with visual-spatial impairments. Though neurocognitive profiles of KS and TS are well-established, little is known about the neurobiology underling learning in SCA. This review summarizes current structural and functional magnetic resonance imaging (MRI) studies in KS and TS related to literacy and mathematical skills. It includes studies that focus on correlates between brain anatomy and cognition in SCA and on functional brain responses during learning-related tasks and at rest. We highlight important neural circuits that are related to domain-specific skills of literacy and mathematics. We discuss how identifying neuroendophenotypes of learning in SCA might contribute to developing a novel framework for SLD that accounts for potential genetic effects on learning, and from the X and Y chromosomes specifically. Future research directions are considered to establish clear brain-behavior relationships that might ultimately improve the treatment of SLD in SCA across development.
Assuntos
Síndrome de Klinefelter/diagnóstico por imagem , Aberrações dos Cromossomos Sexuais , Transtorno de Aprendizagem Específico/diagnóstico por imagem , Síndrome de Turner/diagnóstico por imagem , Aneuploidia , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Feminino , Humanos , Síndrome de Klinefelter/genética , Síndrome de Klinefelter/fisiopatologia , Alfabetização/psicologia , Imageamento por Ressonância Magnética , Masculino , Matemática , Cromossomos Sexuais/genética , Transtorno de Aprendizagem Específico/genética , Transtorno de Aprendizagem Específico/fisiopatologia , Síndrome de Turner/genética , Síndrome de Turner/fisiopatologiaRESUMO
BACKGROUND: Turner syndrome (TS) is a X-chromosomal disease affecting one in 2500-3000 female newborns. TS individuals are at high cardiovascular risk and more likely to be overweight or obese. The aim of this study was to assess left ventricular performance in TS patients through three-dimensional speckle tracking echocardiography (3DSTE) and non-invasive left ventricular pressure-volume loop (PVL) analysis. Moreover, this study focused on the impact of excess weight on the left ventricular efficiency in TS patients. METHODS: Thirty-six TS patients and 19 healthy age-matched controls were included in this study. 3DSTE and non-invasive left ventricular PVL analysis were performed and left ventricular efficiency parameters were calculated. RESULTS: TS patients had significantly lower values than controls in longitudinal strain (- 16.67 ± 3.23% vs. - 18.47 ± 1.87%; p = 0.029), but significantly higher values for arterial elastance (BSA) (3.31, 1.87-5.88 mmHg/mL vs. 2.99, 2.31-4.61 mmHg/mL; p = 0.011) and cardiac work (BSA) (292,070 ± 71,348 mmHg*mL*HR vs. 248,595 ± 70,510 mmHg*mL*HR; p = 0.036). Compared with normal weight patients, overweight and obese TS subjects demonstrated worse left ventricular efficiency (175.08 ± 17.73 mmHg vs. 157.24 ± 26.75 mmHg; p = 0.037). Even after excluding TS patients with cardiovascular morbidity, arterial elastance (BSA) was compared to healthy peers, significantly increased in TS patients. CONCLUSIONS: 3DSTE and non-invasive left ventricular PVL analysis might be useful tools to detect early cardiac changes in TS. Arterial elastance seems to be significantly increased in TS patients, independent of cardiovascular morbidity. Compared with normal weight TS patients, overweight/obese TS patients displayed lower left ventricular efficiency.
Assuntos
Síndrome de Turner/complicações , Síndrome de Turner/fisiopatologia , Remodelação Ventricular , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Ecocardiografia Tridimensional , Feminino , Humanos , Obesidade/complicações , Obesidade/diagnóstico por imagem , Obesidade/fisiopatologia , Síndrome de Turner/diagnóstico por imagem , Função Ventricular Esquerda/fisiologia , Pressão Ventricular/fisiologia , Adulto JovemRESUMO
BACKGROUND: Patients with genetic aortic syndromes such as Marfan or Loeys-Dietz syndrome have a decreased life expectancy due to the risk of aortic dissection and rupture. Imaging plays an important role in the acute setting but also in the initial diagnosis and image-based monitoring. In this article, we provide an overview of the most common genetic aortic syndromes and recommended imaging strategies. Furthermore, we highlight modern imaging methods allowing for the quantification of hemodynamic changes in aortic disease. METHOD: This is a narrative review article on genetic aortic syndromes and recommended imaging strategies, where we take into account expert opinions and standard-of-care practices from our own center. RESULTS AND CONCLUSION: Radiological imaging plays a key role in the initial diagnosis and surveillance of patients with genetic aortic syndromes. Radiologists contribute significantly to the multi-disciplinary setting of genetic aortic syndromes with knowledge of special features and recommended imaging methods. Accurate measurement of the aorta is crucial, particularly in terms of diameter-based surgical treatment algorithms. Modern imaging methods like 4D-flow MRI and pulse wave velocity have a potential to further improve individualized risk stratification in patients with genetic aortic syndromes. KEY POINTS: · The risk for cardiovascular complications such as acute aortic syndrome is increased in patients with genetic aortic syndromes.. · Recommended time intervals between image-based monitoring depend on the underlying aortic disease.. · CT-angiography should be used only in the acute setting.. · Non-contrast MR-angiography is adequate for screening and image-based monitoring of patients with genetic aortic syndromes.. CITATION FORMAT: · Weinrich JM, Lenz A, Girdauskas E etâal. Current and Emerging Imaging Techniques in Patients with Genetic Aortic Syndromes. Fortschr Röntgenstr 2020; 192: 50â-â58.
Assuntos
Doenças da Aorta/diagnóstico por imagem , Doenças da Aorta/genética , Diagnóstico por Imagem/métodos , Valva Aórtica/anormalidades , Valva Aórtica/diagnóstico por imagem , Doença da Válvula Aórtica Bicúspide , Angiografia por Tomografia Computadorizada/métodos , Angiografia por Tomografia Computadorizada/tendências , Diagnóstico por Imagem/tendências , Ecocardiografia/métodos , Ecocardiografia/tendências , Síndrome de Ehlers-Danlos/diagnóstico por imagem , Tomografia Computadorizada Quadridimensional/métodos , Doenças das Valvas Cardíacas/diagnóstico por imagem , Humanos , Síndrome de Loeys-Dietz/diagnóstico por imagem , Angiografia por Ressonância Magnética/métodos , Angiografia por Ressonância Magnética/tendências , Síndrome de Marfan/diagnóstico por imagem , Análise de Onda de Pulso/métodos , Doenças Raras , Síndrome de Turner/diagnóstico por imagemRESUMO
BACKGROUND: Turner syndrome (TS) is characterized by growth failure, primary ovarian failure, cardiac anomalies, and other anomalies. Cardiovascular abnormalities such as bicuspid aortic valve (BAV), coarctation of the aorta (CoA), aortic stenosis (AS), and aortic dilatation (AD) account for some cases of TS-related early mortality. In this study, we investigated the correlations between cardiovascular phenotypes and karyotypes in TS. METHODS: We conducted a retrospective cohort analysis of 105 local patients with TS aged 6-43 years between January 1994 and December 2018. They were categorized into two groups of complete monosomy X (45,X) and other X chromosome abnormalities. Most of the patients underwent echocardiography (n = 88, 83.8%), cardiac computed tomography (CT) angiography, and/or cardiovascular magnetic resonance imaging (MRI) (n = 58, 55.2%). We used independent the Student's t test, chi-square test or Fisher's exact test, and log-rank test to compare differences in continuous data, proportions, and Kaplan-Meier survival analysis results between the two TS groups. RESULTS: 45,X was the most common karyotype (n = 47, 44.8%). Phenotypically, cardiovascular malformations were found in 29 patients with TS (27.6%). BAV (n = 6), CoA (n = 3), AS (n = 2), ASD (n = 1, 2.5%), and PAPVR (n = 1, 2.5%) were found in only the 45,X group. The mean age at AD onset was 25.55 ± 5.78 years (mean ± SD). Survival analysis of age at onset of AD demonstrated no significant difference between the two groups (p = 0.051). CONCLUSION: Cardiovascular abnormalities, such as BAV, CoA, AS, and AD, are common and potentially progressive in patients with TS, especially those with the 45,X karyotype. They should receive immediate cardiological assessments upon receiving diagnosis, regular assessments, and treatment to carefully control blood pressure, even with no apparent congenital heart disease.
Assuntos
Coartação Aórtica/genética , Estenose da Valva Aórtica/genética , Valva Aórtica/anormalidades , Síndrome de Turner/genética , Adolescente , Adulto , Doença da Válvula Aórtica Bicúspide , Criança , Doenças das Valvas Cardíacas , Humanos , Cariótipo , Estudos Retrospectivos , Síndrome de Turner/diagnóstico por imagem , Síndrome de Turner/mortalidade , Adulto JovemRESUMO
Turner syndrome (TS) is a genetic disorder affecting approximately 1:2000 live-born females. It results from partial or complete X monosomy and is associated with a range of clinical issues including a unique cognitive profile and increased risk for certain behavioral problems. Structural neuroimaging studies in adolescents, adults, and older children with TS have revealed altered neuroanatomy but are unable to identify when in development differences arise. In addition, older children and adults have often been exposed to years of growth hormone and/or exogenous estrogen therapy with potential implications for neurodevelopment. The study presented here is the first to test whether brain structure is altered in infants with TS. Twenty-six infants with TS received high-resolution structural MRI scans of the brain at 1 year of age and were compared to 47 typically developing female and 39 typically developing male infants. Results indicate that the typical neuroanatomical profile seen in older individuals with TS, characterized by decreased gray matter volumes in premotor, somatosensory, and parietal-occipital cortex, is already present at 1 year of age, suggesting a stable phenotype with origins in the prenatal or early postnatal period.
Assuntos
Encéfalo/patologia , Síndrome de Turner/patologia , Encéfalo/diagnóstico por imagem , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Tamanho do Órgão , Síndrome de Turner/diagnóstico por imagemRESUMO
Objective To determine whether the measurement of inferior facial angle (IFA) and prefrontal space ratio (PFSR) in two-dimensional (2D) ultrasound images in the first trimester of pregnancy is reliable and to describe these markers in normal and aneuploid fetuses. Methods IFA and PFSR were measured in stored 2D midsagittal images of 200 normal and 140 aneuploid fetal profiles between 11 + 0 and 13 + 6 weeks of gestation. Limits of agreement (LOAs) and intraclass correlation coefficients (ICCs) for inter- and intraobserver differences were calculated. Results The mean IFA in normal fetuses was 76.5° ± 6.3. Between the two measurement rounds of the same observer, the LOAs were -5.4 to 7.1 (obs. 1) and 7.4 to 8.4 (obs. 2). For IFA measurements by the same observer the ICC was 0.88 (obs. 1) and for measurements by two different observers the ICC was 0.74. The mean PFSR was 0.76 ± 0.40 and the intraobserver LOAs were -0.372 to 0.395 (obs. 1) and -0.555 to 0.667 (obs. 2). For PFSR measurements by the same observer the ICC was 0.89 (obs. 1) and for measurements by two different observers the ICC was 0.65. Among aneuploid fetuses, IFA was below the normal range in one third of the cases with trisomy 18. PFSR was below the 95% prediction limit in 16.2% of fetuses with trisomy 21% and 17.9% of fetuses with trisomy 18. Conclusion IFA can be reliably measured in 2D ultrasound images in the first trimester of pregnancy with a high interobserver agreement and may provide information about retrognathia associated with various syndromes and aneuploidies at early stages of pregnancy.
Assuntos
Aneuploidia , Face/diagnóstico por imagem , Primeiro Trimestre da Gravidez , Retrognatismo/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/embriologia , Face/embriologia , Feminino , Humanos , Masculino , Variações Dependentes do Observador , Gravidez , Reprodutibilidade dos Testes , Retrognatismo/embriologia , Retrognatismo/genética , Estudos Retrospectivos , Síndrome da Trissomia do Cromossomo 13/diagnóstico por imagem , Síndrome da Trissomia do Cromossomo 13/embriologia , Síndrome da Trissomía do Cromossomo 18/diagnóstico por imagem , Síndrome da Trissomía do Cromossomo 18/embriologia , Síndrome de Turner/diagnóstico por imagem , Síndrome de Turner/embriologiaRESUMO
Turner syndrome is one of the most common chromosomal anomalies occurring in live-born females. It has been extensively reviewed in the medical literature, yet little has been discussed regarding the skeletal manifestations that present to the orthopaedic surgeon. It is important for the orthopaedic surgeon to be familiar with the clinical findings and comorbid conditions in Turner syndrome because they may be the first line of diagnosis when a patient presents for short stature, scoliosis, or slipped capital femoral epiphysis. Recent studies have identified the short stature homeobox gene as the main cause of the skeletal differences in patients with Turner syndrome, affecting longitudinal bone growth. Skeletal deformities including short stature, delayed skeletal maturation, angular deformity of the limbs, spinal deformity, and early-onset osteoporosis have been associated with Turner syndrome. This article will review the skeletal manifestations of Turner syndrome and propose guidelines for the treatment and monitoring of these patients. LEVEL OF EVIDENCE:: Level V.
Assuntos
Osso e Ossos/anormalidades , Osso e Ossos/fisiopatologia , Síndrome de Turner/fisiopatologia , Osso e Ossos/diagnóstico por imagem , Feminino , Humanos , Síndrome de Turner/diagnóstico por imagemRESUMO
Gonadal steroids play an important role in brain development, particularly during puberty. Girls with Turner syndrome (TS), a genetic disorder characterized by the absence of all or part of the second X chromosome, mostly present a loss of ovarian function and estrogen deficiency, as well as neuroanatomical abnormalities. However, few studies have attempted to isolate the indirect effects of hormones from the direct genetic effects of X chromosome insufficiency. Brain structural (i.e., gray matter [GM] morphology and white matter [WM] connectivity) and functional phenotypes (i.e., resting-state functional measures) were investigated in 23 adolescent girls with TS using multimodal MRI to assess the role of hypogonadism in brain development in TS. Specifically, all girls with TS were divided into a hormonally subnormal group and an abnormal subgroup according to their serum follicle-stimulating hormone (FSH) levels, with the karyotypes approximately matched between the two groups. Statistical analyses revealed significant effects of the "group-by-age" interaction on GM volume around the left medial orbitofrontal cortex and WM diffusion parameters around the bilateral corticospinal tract, anterior thalamic radiation, left superior longitudinal fasciculus, and cingulum bundle, but no significant "group-by-age" or group differences were observed in resting-state functional measures. Based on these findings, estrogen deficiency has a nontrivial impact on the development of the brain structure during adolescence in girls with TS. Our present study provides novel insights into the mechanism by which hypogonadism influences brain development during adolescence in girls with TS, and highlights the important role of estrogen replacement therapy in treating TS.
Assuntos
Encéfalo/diagnóstico por imagem , Hipogonadismo/diagnóstico por imagem , Rede Nervosa/diagnóstico por imagem , Síndrome de Turner/diagnóstico por imagem , Substância Branca/diagnóstico por imagem , Adolescente , Encéfalo/crescimento & desenvolvimento , Criança , Cognição/fisiologia , Estradiol/sangue , Feminino , Hormônio Foliculoestimulante/sangue , Humanos , Hipogonadismo/sangue , Hipogonadismo/psicologia , Imageamento por Ressonância Magnética , Rede Nervosa/crescimento & desenvolvimento , Neuroimagem , Síndrome de Turner/sangue , Síndrome de Turner/psicologia , Substância Branca/crescimento & desenvolvimentoRESUMO
Here, we investigated processing by receptive fields, a fundamental property of neurons in the visual system, using fMRI and population receptive field (pRF) mapping in 20 human females with monosomic Turner syndrome (TS) (mean age, 10.3 ± 2.0 years) versus 22 age- and sex-matched controls (mean age, 10.4 ± 1.9 years). TS, caused by X-chromosome haploinsufficiency in females, is associated with well-recognized effects on visuospatial processing, parieto-occipital cortical anatomy, and parietal lobe function. However, it is unknown whether these effects are related to altered brain structure and function in early visual areas (V1-V3) versus downstream parietal cortical regions. Results show that girls with TS have the following: (1) smaller volume of V1-V3, (2) lower average pRF eccentricity in early visual areas, and (3) sparser pRF coverage in the periphery of the visual field. Further, we examined whether the lower volume of early visual areas, defined using retinotopic mapping, in TS is due to smaller surface area or thinner cortex. Results show that girls with TS had a general reduction in surface area relative to controls in bilateral V1 and V2. Our data suggest the possibility that the smaller cortical surface area of early visual areas in girls with TS may be associated with a lower number of neurons, which in turn, leads to lesser coverage of the peripheral visual field compared to controls. These results indicate that X-chromosome haploinsufficiency associated with TS affects the functional neuroanatomy of early visual areas, and suggest that investigating pRFs in TS may shed insights into their atypical visuospatial processing.SIGNIFICANCE STATEMENT Turner syndrome is caused by the absence of one of the two X-chromosomes in females. Using functional neuroimaging and population receptive field mapping, we find that chromosome dosage variation (X-monosomy) associated with Turner syndrome affects the functional neuroanatomy of the visual cortex. Specifically, girls with Turner syndrome have smaller early visual areas that provide lesser coverage of the peripheral visual field compared with healthy controls. Our observations provide compelling evidence that the X-chromosome affects not only parietal cortex, as described in previous studies, but also affects early visual areas. These findings suggest a paradigm change in understanding the effect of X-monosomy on the development of visuospatial abilities in humans.
Assuntos
Cromossomos Humanos X/genética , Síndrome de Turner/fisiopatologia , Córtex Visual/crescimento & desenvolvimento , Córtex Visual/fisiopatologia , Adolescente , Mapeamento Encefálico , Contagem de Células , Criança , Feminino , Haploinsuficiência/genética , Humanos , Imageamento por Ressonância Magnética , Neurônios , Desempenho Psicomotor , Síndrome de Turner/diagnóstico por imagem , Córtex Visual/diagnóstico por imagem , Testes de Campo Visual , Campos VisuaisRESUMO
BACKGROUND: Turner syndrome (45,X), accounts for 1-2% of conceptions which typically miscarry early in the first trimester. Cases detected prenatally often present with cystic hygroma, which is an ultrasound marker for aneuploidy generally, but Turner syndrome particularly. In this study, we report a second trimester intrauterine fetal demise (IUFD), complicated by a marked cystic hygroma and bilateral syndactyly of the fingers and toes. CASE PRESENTATION: A 25-year-old woman presented for her first prenatal visit at 22-week gestation with IUFD. Color Doppler ultrasound revealed a septated nuchal lymphatic hygroma and hydrops fetalis, characterized by edema of the whole body, substantial pleural effusion and abdominal fluid. Pregnancy was further complicated by oligohydramnios. Following labor induction, a stillborn female baby was delivered at 22 weeks gestation. Autopsy confirmed the presence of huge nuchal cystic hygroma (10 cm × 10 cm × 6 cm) and generalized edema. Bilateral, partial syndactyly involving digits 2-5 of the fingers and toes were also observed. Chromosomal analysis revealed a 45,X karyotype. CONCLUSIONS: We investigated an unusual case of severe septated nuchal cystic hygroma associated with bilateral syndactyly of the fingers and toes in a stillborn infant with Turner syndrome. Although cystic hygroma has been frequently reported in 45,X the severity is marked in this case. In addition, syndactyly is not a typical complication of Turner syndrome. This case emphasizes the importance of early ultrasound in pregnancy.
Assuntos
Hidropisia Fetal/diagnóstico por imagem , Linfangioma Cístico/diagnóstico por imagem , Sindactilia/diagnóstico por imagem , Síndrome de Turner/diagnóstico por imagem , Adulto , Feminino , Morte Fetal , Humanos , Oligo-Hidrâmnio/diagnóstico por imagem , Derrame Pleural/diagnóstico por imagem , Gravidez , Diagnóstico Pré-Natal , Ultrassonografia Pré-NatalRESUMO
We present a case of megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly and who initially presented with severe psychiatric symptoms. The patient presented with presented with late-onset secondary generalized focal motor seizures, gait ataxia and mild spasticity with hyperreflexia. MRI showed diffuse white matter hyperintensities and bilateral anterotemporal cysts. Genetic analysis confirmed the causal MLC1 mutation and Turner's syndrome. Surprisingly, our patient had no macrocephaly, which is a typical finding in MCL1 mutations; we emphasize that comorbid unrelated Turner's syndrome could explain the absence of macrocephaly: although short stature is typical, microcephaly is not associated with Turner's syndrome. Our observation thus argues for detailed investigations in cases presenting with an atypical clinical picture.
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Cistos/diagnóstico por imagem , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/diagnóstico por imagem , Megalencefalia , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico por imagem , Adulto , Cistos/complicações , Feminino , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/complicações , HumanosAssuntos
Leucemia Mieloide Aguda , Meduloblastoma , Síndrome de Turner , Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias Cerebelares/terapia , Criança , Evolução Fatal , Feminino , Humanos , Leucemia Mieloide Aguda/diagnóstico por imagem , Leucemia Mieloide Aguda/terapia , Meduloblastoma/diagnóstico , Meduloblastoma/terapia , Segunda Neoplasia Primária/diagnóstico por imagem , Segunda Neoplasia Primária/terapia , Síndrome de Turner/diagnóstico por imagem , Síndrome de Turner/terapiaRESUMO
BACKGROUND: No established reference-standard technique is available for ascending aortic diameter measurements. The aim of this study was to determine agreement between modalities and techniques. METHODS: In patients with aortic pathology transthoracic echocardiography, computed tomography angiography (CTA) and magnetic resonance angiography (MRA) were performed. Aortic diameters were measured at the sinus of Valsalva (SoV), sinotubular junction (STJ) and tubular ascending aorta (TAA) during mid-systole and end-diastole. In echocardiography both the inner edge-to-inner edge (I-I edge) and leading edge-toleading edge (L-L edge) methods were applied, and the length of the aortic annulus to the most cranial visible part of the ascending aorta was measured. In CTA and MRA the I-I method was used. RESULTS: Fifty patients with bicuspid aortic valve (36⯱â¯13â¯years, 26% female) and 50 Turner patients (35⯱â¯13â¯years) were included. Comparison of all aortic measurements showed a mean difference of 5.4⯱â¯2.7â¯mm for the SoV, 5.1⯱â¯2.0â¯mm for the STJ and 4.8⯱â¯2.1â¯mm for the TAA. The maximum difference was 18â¯mm. The best agreement was found between echocardiography L-L edge and CTA during mid-systole. CTA and MRA showed good agreement. A mean difference of 1.5⯱â¯1.3â¯mm and 1.8⯱â¯1.5â¯mm was demonstrated at the level of the STJ and TAA comparing mid-systolic with end-diastolic diameters. The visible length of the aorta increased on average 5.3⯱â¯5.1â¯mmW during mid-systole. CONCLUSIONS: MRA and CTA showed best agreement with L-L edge method by echocardiography. In individual patients large differences in ascending aortic diameter were demonstrated, warranting measurement standardization. The use of CTA or MRA is advised at least once.
Assuntos
Aorta/diagnóstico por imagem , Angiografia por Tomografia Computadorizada/métodos , Ecocardiografia/métodos , Angiografia por Ressonância Magnética/métodos , Adulto , Valva Aórtica/anormalidades , Valva Aórtica/diagnóstico por imagem , Doença da Válvula Aórtica Bicúspide , Estudos de Coortes , Angiografia por Tomografia Computadorizada/normas , Ecocardiografia/normas , Feminino , Doenças das Valvas Cardíacas/diagnóstico por imagem , Doenças das Valvas Cardíacas/epidemiologia , Humanos , Angiografia por Ressonância Magnética/normas , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Síndrome de Turner/diagnóstico por imagem , Síndrome de Turner/epidemiologia , Adulto JovemRESUMO
BACKGROUND: The aim of this study was to identify the main predictors of the enlargement of ascending aorta and to assess the possible relation between reduced bone mineral density and a diameter of ascending aorta in the specific Turner syndrome (TS) population. METHODS: Fifty adult females diagnosed with TS have been enrolled into the cross-sectional study. Dimensions of ascending aorta have been measured in four positions using thoracic magnetic resonance imaging, Aortic Size Index (ASI) has been calculated. BMD has been assessed on dual-energy-X ray absorptiometry (DXA) in 1-4 lumbar vertebrae and neck of the femur. According to Z Score on DXA two groups have been formed: a group of patients with normal BMD and a group with reduced BMD. Metabolic parameters and the measurements of ascending aorta have been compared between the two groups. RESULTS: Extremely high rate of the dilatation of the root of aorta (up to 50%) was identified in this study. The larger ASI has been found in patients with reduced BMD, negative relation between BMD and ASI has been identified, although after the adjustment for SHRT this correlation remained insignificant. In the multivariate analysis, the main factors affecting ASI were age, body surface area and bicuspid aortic valve. CONCLUSIONS: The main factors associated with the enlargement of ascending aorta in Turner syndrome were age, body surface area and bicuspid aortic valve, the relation between diameter of ascending aorta and bone mineral density was not identified.