Utility of indirect sonographic signs (including cavum septum pellucidum ratio) in midgestational screening for partial agenesis of corpus callosum

2019 ◽  
Vol 47 (7) ◽  
pp. 394-398 ◽  
Author(s):  
Dan Zhao ◽  
Bing Wang ◽  
Ailu Cai
Keyword(s):  
Corpus Callosum ◽  
Septum Pellucidum ◽  
Agenesis Of Corpus Callosum ◽  
Cavum Septum Pellucidum

scholarly journals Prenatal Diagnosis of WAGR Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Berrin Tezcan ◽  
Philip Rich ◽  
Amarnath Bhide
Keyword(s):  
Prenatal Diagnosis ◽  
Corpus Callosum ◽  
Microarray Analysis ◽  
Genetic Disorder ◽  
Fetal Mri ◽  
Septum Pellucidum ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 11 ◽  
Cavum Septum Pellucidum ◽  
Wagr Syndrome

Wilm’s tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genotypic defects in WAGR syndrome have been well established. However, antenatal ultrasonographic presentation of this syndrome has never been reported. Prenatal diagnosis of this condition is possible in some cases with careful ultrasound examination of classical and nonclassical manifestations of this syndrome. The key point for this rare diagnosis was the decision to perform chromosomal microarray analysis after antenatal diagnosis of absent corpus callosum and absent cavum septum pellucidum, as this finding mandates search for potentially associated genetic disorders. We report a case of WAGR syndrome diagnosed prenatally at 29-week gestation. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound as well as fetal MRI scan and microarray analysis. The ultrasonographic findings included borderline ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. Cytogenetic results from the amniotic fluid confirmed WAGR syndrome. Parental karyotype was normal, with no evidence of copy number change, deletion, or rearrangement of this region of chromosome 11.

Extraventricular corpus callosotomy

2011 ◽  
Vol 114 (6) ◽  
pp. 1698-1700 ◽  
Author(s):  
Jacob R. Joseph ◽  
Ashwin Viswanathan ◽  
Daniel Yoshor
Keyword(s):  
Corpus Callosum ◽  
Mr Imaging ◽  
Septum Pellucidum ◽  
The Body ◽  
Corpus Callosotomy ◽  
Cavum Septum Pellucidum ◽  
Drop Attacks ◽  
Lateral Ventricles ◽  
Intractable Seizures ◽  
Anatomical Basis

Corpus callosotomy offers useful palliation for selected patients with medically intractable seizures, particularly those with uncontrolled and disabling drop attacks. Here the authors present their technique for performing a corpus callosotomy that allows for complete sectioning of the callosum while avoiding entry into the lateral ventricles. The anatomical basis for the technique is the presence of a definable cleft just ventral to the corpus callosum in the midline, formed by the fusion of the two laminae of the septum pellucidum. This small cleft is typically present even in the absence of a cavum septum pellucidum on MR imaging. The authors have found that dividing the body of the corpus callosum by exploiting the cleft of the septum pellucidum in the absolute midline is a simple and expeditious way to perform a callosotomy without entering the lateral ventricles.

scholarly journals Frame-Based Stereotactic-Guided Excision of Colloid Cyst of Cavum Septum Pellucidum through Transcallosal Approach—A Technical Note

2017 ◽  
Vol 07 (03) ◽  
pp. 235-238
Author(s):  
J. Parthiban ◽  
S. Shanthanam ◽  
R. Manivasagam
Keyword(s):  
Corpus Callosum ◽  
Third Ventricle ◽  
Colloid Cyst ◽  
Technical Note ◽  
Septum Pellucidum ◽  
Cavum Septum Pellucidum ◽  
Intracranial Lesion ◽  
Transcallosal Approach ◽  
The Third ◽  
Stereotactic Guidance

AbstractColloid cyst is a rare benign intracranial lesion. Due to its embryologic origin and development, it is commonly located within the third ventricle, though it also presents at various locations. Its location within cavum septum pellucidum is rarely reported. Operative approaches to such lesion can be challenging and misleading due to intraoperative variations. However, surgical resection in such locations are simplified and perfected with stereotactic guidance. A case of colloid cyst within the cavum septum pellucidum and the importance of stereotactic guidance in precisely reaching the lesion, thus minimizing the dissection of corpus callosum, are discussed.

A case of prenatal diagnosis of corpus callosum lipoma

2020 ◽  
Author(s):  
A.I. Zamiatina, M.V. Medvedev
Keyword(s):  
Magnetic Resonance Imaging ◽  
Blood Flow ◽  
Prenatal Diagnosis ◽  
Magnetic Resonance ◽  
Corpus Callosum ◽  
Color Doppler ◽  
Septum Pellucidum ◽  
Resonance Imaging

A case of prenatal diagnosis of the corpus callosum lipoma at 32–33 weeks of gestation is presented. In a consultative examination, a hyperechoic formation with clear contours was found in the projection of the septum pellucidum, occupying the rostrum, genu, and truncus of corpus callosum, without signs of intratumorally blood flow in the color Doppler mapping mode. The prenatal diagnosis of "callosum lipoma" was established, confirmed after the birth of a child during magnetic resonance imaging.

New normal range of fetal cavum septum pellucidum in the second trimester of gestation

2020 ◽  
Author(s):  
M.V. Medvedev, O.I. Kozlova, À.Yu. Romanova
Keyword(s):  
Brain Development ◽  
Reference Range ◽  
Fetal Brain ◽  
Septum Pellucidum ◽  
Second Trimester ◽  
Normal Range ◽  
Cavum Septum Pellucidum ◽  
New Normal ◽  
Biparietal Diameter ◽  
Fetal Brain Development

Fetal brain was retrospectively evaluated in 418 normal fetuses at 16–28 weeks of gestation. The multiplanar mode to obtain the axial cerebral plane and measured the width of the cavum septum pellucidum (CSP) and biparietal diameter (BD). All measurements of CSP were done from as the widest diameter across both borders in an inter-to inter fashion. The CSP width is increasing at second trimester of gestation. Normal range plotted on the reference range (mean, 5th and 95th percentiles) of fetal width CSP by measuring of its size may be useful for assessment of fetal brain development in the second trimester of gestation.

scholarly journals Transsellar trans-sphenoidal encephalocele with cleft lip, cleft palate and agenesis of corpus callosum

2021 ◽  
Vol 16 (8) ◽  
pp. 2211-2213
Author(s):  
Prajina Pradhan ◽  
Subash Phuyal ◽  
Ritesh Lamsal ◽  
Pooja Agrawal ◽  
Raju Paudel
Keyword(s):  
Corpus Callosum ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Agenesis Of Corpus Callosum

scholarly journals A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110065
Author(s):  
Nesrin Şenbil ◽  
Zeynep Arslan ◽  
Derya Beyza Sayın Kocakap ◽  
Yasemin Bilgili
Keyword(s):  
Corpus Callosum ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Gene Mutations ◽  
Hirschsprung Disease ◽  
Agenesis Of Corpus Callosum ◽  
Whole Exome ◽  
Congenital Cardiac Anomalies ◽  
History Of ◽  
Gene Mutation Analysis

Mowat–Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ‘‘M’’ shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.

scholarly journals EP08.17: The “isolated” wide cavum septum pellucidum: is this an ultrasound finding that should always be reported?

2019 ◽  
Vol 54 (S1) ◽  
pp. 281-281
Author(s):  
M.O. Thompson ◽  
O.B. Navti ◽  
S. Abdel‐Fattah ◽  
M. Alberry ◽  
C. Bryan ◽  
...  
Keyword(s):  
Septum Pellucidum ◽  
Ultrasound Finding ◽  
Cavum Septum Pellucidum

Increased prevalence of cavum septum pellucidum in schizophrenia

1993 ◽  
Vol 50 (3) ◽  
pp. 193-199 ◽  
Author(s):  
Lynn E. DeLisi ◽  
Anne L. Hoff ◽  
Maureen Kushner ◽  
Gustav Degreef
Keyword(s):  
Septum Pellucidum ◽  
Cavum Septum Pellucidum
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