Agenesis of the corpus callosum with interhemispheric cyst, associated with aberrant cortical sulci and without underlying cortical dysplasia

Cagneaux, M.; Lacalm, Audrey; Huissoud, Cyril; Allias, Fabienne; Ville, Dorothée; Massardier, Jérôme; Guibaud, Laurent

doi:10.1002/uog.12545

Cited by 5 publications

(3 citation statements)

References 5 publications

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“…4) [3]. Although interhemispheric cysts are often easily diagnosed, especially in cases of large ones which may conceal callosal dysgenesis [30, 31], pericallosal lipoma can be easily overlooked in the second trimester, especially in cases of curvilinear lipoma, as illustrated in one case of our series in which the SCC was diagnosed postnatally, related to a pericallosal lipoma (Fig. 4).…”

Section: Discussionmentioning

confidence: 84%

Prenatal Imaging Features and Postnatal Outcome of Short Corpus Callosum: A Series of 42 Cases

et al. 2021

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Objectives: Our goal was to provide a better understanding of isolated short corpus callosum (SCC) regarding prenatal diagnosis and postnatal outcome. Methods: We retrospectively reviewed prenatal and postnatal imaging, clinical, and biological data from 42 cases with isolated SCC. Results: Prenatal imaging showed SCC in all cases (n = 42). SCC was limited to rostrum and/or genu and/or splenium in 21 cases, involved body in 16 cases, and was more extensive in 5 cases. Indirect imaging features included typical buffalo horn ventricles (n = 14), septal dysmorphism (n = 14), parallel lateral ventricles (n = 12), and ventriculomegaly (n = 4), as well as atypical features in 5 cases. SCC was associated with interhemispheric cysts and pericallosal lipomas in 3 and 6 cases, respectively. Aneuploidy was found in 2 cases. Normal psychomotor development, mild developmental disorders, and global developmental delay were found in 70, 15, and 15% of our cases, respectively. Conclusions: SCC should be investigated to look for pericallosal lipoma and typical versus atypical indirect features of corpus callosum agenesis (CCA). Prenatal counselling should be guided by imaging as well as clinical and genetic context. Outcome of patients with SCC was similar to the one presenting with complete CCA.

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Section: Discussionmentioning

confidence: 84%

Prenatal Imaging Features and Postnatal Outcome of Short Corpus Callosum: A Series of 42 Cases

et al. 2021

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“…Abnormal sulcation has also been observed using MRI in fetuses > 20 weeks 16 . Interestingly, this abnormal pattern is apparently not necessarily associated with the presence of cortical dysplasia 41 .…”

Section: Discussionmentioning

confidence: 95%

Malformation of cortical development with abnormal cortex: early ultrasound diagnosis between 14 and 24 weeks of gestation

Haratz

Birnbaum

Kidron

et al. 2023

Ultrasound in Obstet & Gyne

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What are the novel findings of this work?At least in severe cases, neurosonography is able to detect and elucidate cortical anomalies as early as 14 gestational weeks. What are the clinical implications of this work?This study describes for the first time a method for diagnosis in the early mid trimester of severe malformations affecting cortical development that, until now, were rarely diagnosed at this early stage of gestation. Identification of these findings should allow, in these severe and rare cases, early counseling and decisions regarding management of the pregnancy.

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“…Any disturbance of this process may lead to CC agenesis or partial agenesis (hypogenesis or dysgenesis). Many CC abnormalities (in terms of dimensions and shape) are frequently diagnosed during pregnancy although their significance is still debated [58][59][60][61][62][63][64][65][66][67]. Abnormal CC has been described among patients assessed for mental retardation.…”

Section: Lobar and A Middle Interhemispheric Fusion Variant (Syntelementioning

confidence: 99%

Fetal Central Nervous System Abnormalities

Ceausescu¹,

Docea²,

Dinu³

et al. 2018

Congenital Anomalies - From the Embryo to the Neonate

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Central nervous system (CNS) is one of the most frequent sites for prenatal diagnosed congenital abnormalities (10 per 1000 live births, much higher than the heart-eight per 1000, kidneys-four per 1000, and other fetal systems). Due to the evolving pattern, ultrasound screening for fetal brain malformations is usually performed at 19-22 weeks' gestation, but severe congenital anomalies can be diagnosed much earlier. This chapter is a short review, structured in eight subchapters: the first one is dedicated to the normal ultrasound aspect of different CNS segments, and the following ones are to detect pathology in prenatal life. We used many ultrasound images and tried to correlate the prenatal findings with the ones obtained postpartum/postabortum for each case, by means of pathology/imaging techniques.anomalies of the central nervous system develop early, and nowadays, we have the tools to detect some conditions at 11-13 weeks [3][4][5][6][7][8] or even earlier. The first-trimester detection of CNS anomalies is probably the most important advance in modern sonoembriology. Later in pregnancy, neurosonography is a powerful tool in diagnosing CNS pathology.The following chapter is structured as follows: 1. Normal findings 2. Ventricular system (ventriculomegaly, aqueduct stenosis) 3. Neural tube defects (NTDs) (anencephaly, encephalocele, myelomeningocele) 4. Cortical formation abnormalities (schizencephaly, lissencephaly, heterotopia, microcephaly) 5. Midline abnormalities (holoprosencephaly, complete/partial agenesis of corpus callosum or abnormal corpus callosum, absent cavum septum) 6. Posterior fossa abnormalities (mega cisterna magna, Blake's pouch cyst, Dandy-Walker or variant cerebellar, vermian hypoplasia) 7. Vascular abnormalities (hemorrhage, hematoma, dural fistula, aneurysms) 8. Destructive lesions (hydranencephaly, tumors/mass lesions, cysts, periventricular leukomalacia, infections, dysplasias, other lesions). Normal findingsSome intracranial segments of CNS are seen on ultrasound extremely early in development, especially when using high-resolution probes and modern electronic tools. Although many features are indeed recognizable, the clinical utility of such studies is yet to be proven (Figures 1-3).In the late first trimester, current guidelines recommend checking for present cranial bones, for normal midline falx, and for the presence of choroid plexus and filled ventricles [9]. The most recommended planes for assessing the head anatomy are the axial ones. In terms of spine assessment, the guidelines state that "longitudinal and axial views should be obtained to show normal vertebral alignment and integrity, and an attempt should be made to show intact overlying skin" [9] (Figure 4).From the early second trimester onwards, the commendation is to obtain in standard assessment three standard axial planes (transventricular, transthalamic, and transcerebellar), and, if technically feasible, the fetal profile [10] (Figures 5 and 6).The measurements for fetal head biometry (the biparietal diameter-BPD ...

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Agenesis of the corpus callosum with interhemispheric cyst, associated with aberrant cortical sulci and without underlying cortical dysplasia

Cited by 5 publications

References 5 publications

Prenatal Imaging Features and Postnatal Outcome of Short Corpus Callosum: A Series of 42 Cases

Prenatal Imaging Features and Postnatal Outcome of Short Corpus Callosum: A Series of 42 Cases

Malformation of cortical development with abnormal cortex: early ultrasound diagnosis between 14 and 24 weeks of gestation

Fetal Central Nervous System Abnormalities

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