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

2021 ◽  
Vol 48 (3) ◽  
pp. 217-226
Author(s):  
Caroline Bartholmot ◽  
Sara Cabet ◽  
Mona Massoud ◽  
Jérôme Massardier ◽  
Axel Fichez ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Developmental Disorders ◽  
Biological Data ◽  
Psychomotor Development ◽  
Global Developmental Delay ◽  
Imaging Features ◽  
Prenatal Counselling ◽  
Prenatal Imaging ◽  
Postnatal Outcome ◽  
The One

<b><i>Objectives:</i></b> Our goal was to provide a better understanding of isolated short corpus callosum (SCC) regarding prenatal diagnosis and postnatal outcome. <b><i>Methods:</i></b> We retrospectively reviewed prenatal and postnatal imaging, clinical, and biological data from 42 cases with isolated SCC. <b><i>Results:</i></b> Prenatal imaging showed SCC in all cases (<i>n</i> = 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 (<i>n</i> = 14), septal dysmorphism (<i>n</i> = 14), parallel lateral ventricles (<i>n</i> = 12), and ventriculomegaly (<i>n</i> = 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. <b><i>Conclusions:</i></b> 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.

The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation

2020 ◽  
Vol 51 (06) ◽  
pp. 435-439
Author(s):  
Laura Hecher ◽  
Jessika Johannsen ◽  
Tatjana Bierhals ◽  
Jan-Hendrik Buhk ◽  
Maja Hempel ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Clinical Picture ◽  
De Novo ◽  
De Novo Mutation ◽  
Global Developmental Delay ◽  
Initial Symptom ◽  
Imaging Features ◽  
Serine Threonine Kinase ◽  
Threonine Kinase ◽  
Migration Disorder

AbstractCongenital bilateral perisylvian syndrome (CBPS) is a rare neurological disorder associated with typical clinical and imaging features such as bilateral symmetrical polymicrogyria, either exclusively or mainly affecting the perisylvian region of the brain. We present a girl with the typical clinical picture of a CBPS and a complex migration disorder, predominantly presenting as bilateral symmetrical polymicrogyria associated with corpus callosum hyperplasia, ventricular dilation, and pontine hypoplasia. At the age of 6 months, the girl showed a profound global developmental delay, seizures refractory to treatment, and severe oromotor dysfunction. Exome analysis revealed a de novo mutation in microtubule-associated serine/threonine kinase 1 (MAST1). Recently, mutations in this gene were described in six patients with a cortical migration disorder named mega-corpus-callosum syndrome with cerebellar hypoplasia. Although all patients present the clinical and imaging features of CBPS, a clear assignment between CBPS and MAST1 mutations has not been reported yet.

Ultrasound screening and catamnesis of euploid fetuses with nasal bones aplasia/hypoplasia

2017 ◽  
Author(s):  
N.P. Veropotvelyan, A.A. Bondarenko
Keyword(s):  
Chromosomal Abnormalities ◽  
Nasal Bone ◽  
Normal Karyotype ◽  
Psychomotor Development ◽  
Ultrasound Screening ◽  
Normal Height ◽  
Term Infants ◽  
Nasal Bones ◽  
Postnatal Outcome ◽  
Selection Of

Objective. To evaluate the pre- and postnatal outcomes of euploid fetuses with aplasia/hypoplasia of the nasal bones (NB). Methods. We have made the catamnestic monitoring of children with a normal karyotype, who had been prenatally detected NB aplasia or hypoplasia (less than 5 perentile) at 11–24 weeks of gestation at ultrasound screening in the period between 2006–2015 years. Our study included a selection of 242 fetuses with NB aplasia or hypoplasia, in 128 (52.8 %) of them the NB was not visualized or appeared as an echogenic dot only. Results. Among all 63 fetuses with NB aplasia (absence or looks as an echogenic dot) in the 1st trimester in 24 (38 %) cases chromosomal abnormalities (CA) were found (including T21 — 15 (62.5 %) cases). Other 39 (61.9 %) fetuses had a normal karyotype. Among 65 fetuses with NB aplasia, examined in the 2nd trimester of gestation 12 (18.4 %) cases of CA were detected (one fetus with T21 had the only one ultrasound marker – isolated NB aplasia), 53 (81.5 %) fetuses had a normal karyotype. 62 mothers of the euploid fetuses with NB aplasia had been surveyed. We have received and analyzed 31 (50 %) responses. In 16 cases of euploid fetuses with NB, aplasia pregnancy outcome was adverse or relatively unfavorable, only 5 (31.2 %) fetuses of them had isolated NB aplasia. In other cases healthy full-term infants were born, who showed normal height and weight indexes, physical and psychomotor development observed in age from 0 to 10. Conclusion. In 51.6 % fetuses and children prenatally had aplasia of the nasal bone was marked by unfavorable pre- or postnatal outcome, according to the survey of their mothers.

scholarly journals EP01.04: Prenatal diagnosis and postnatal outcome of agenesis of the corpus callosum: a retrospective multicentre study

2017 ◽  
Vol 50 ◽  
pp. 258-258
Author(s):  
K. Yusupov ◽  
M. Esetov ◽  
G. Bekeladze ◽  
M. Ibatullin ◽  
E. Nedopekina
Keyword(s):  
Prenatal Diagnosis ◽  
Corpus Callosum ◽  
Multicentre Study ◽  
Postnatal Outcome

Prenatal diagnosis and prenatal imaging features of fetal monosomy 1p36

2007 ◽  
Vol 27 (9) ◽  
pp. 874-878 ◽  
Author(s):  
D. Lissauer ◽  
S. A. Larkins ◽  
S. Sharif ◽  
L. MacPherson ◽  
C. Rhodes ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Imaging Features ◽  
Prenatal Imaging

scholarly journals Prenatal imaging features suggestive of liver gestational allo immune disease

2019 ◽  
Vol 48 (1) ◽  
pp. 61-64 ◽  
Author(s):  
Clémentine Sciard ◽  
Sophie Collardeau-Frachon ◽  
Anthony Atallah ◽  
Danièle Combourieu ◽  
Jérôme Massardier ◽  
...  
Keyword(s):  
Imaging Features ◽  
Immune Disease ◽  
Prenatal Imaging

scholarly journals Ornidazole-Induced Recurrent Encephalopathy in a Chinese Man: A Rare Case Report and Literature Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Rong Tang ◽  
Jia Liang ◽  
Yuanfang Li ◽  
Tingting Wu ◽  
Yuhao Zhang ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Corpus Callosum ◽  
Cerebellar Ataxia ◽  
Drug Withdrawal ◽  
Clinical Manifestations ◽  
Good Prognosis ◽  
Drug Discontinuation ◽  
Imaging Features ◽  
Mental Symptoms

Ornidazole-induced encephalopathy (OIE) is seldom seen in the clinic. In this study, we report a new case of a patient who had taken 1,000 mg ornidazole daily for nearly 4 years because of suspected diarrhea and proctitis and presented with subacute symptoms such as unsteady gait, slurred speech, and psychiatric disorder. These symptoms were significantly relieved 3 days after the patient stopped taking ornidazole. When he took this medicine again, however, similar symptoms occurred 4 months later, which were again reduced after 4 days of drug discontinuation. After the second onset, abnormal signals were identified around the aqueduct of the midbrain, around the fourth ventricle, and in the dentate nuclei of the cerebellum bilaterally. After 9 days of drug discontinuation, lesions disappeared in the magnetic resonance imaging (MRI) results. According to the clinical manifestations, imaging features, and the reduced symptoms after drug withdrawal, we clinically diagnosed the patient with OIE. This paper also reviews the literature on OIE. Only five cases (including our case) have been reported, all of whom presented with cerebellar ataxia and dysarthria and three with additional mental symptoms such as agitation and irritability. All five patients had abnormal lesions in the dentate nucleus of the cerebellum bilaterally, among whom four also had lesions in the corpus callosum and three around the periaqueduct of the midbrain. After withdrawal of ornidazole, the symptoms in all patients vanished or were alleviated, and three of them showed reduced or disappeared lesions in a head MRI reexamination. Overall, OIE has rarely been reported. Our case report and literature review show that the lesions in the cerebellum, corpus callosum, and brainstem can be reversed. The main manifestations of the lesions—cerebellar ataxia, dysarthria, and mental symptoms—quickly weaken or disappear after drug withdrawal, with good prognosis. Nevertheless, clear pathogenesis has yet to be further investigated.

scholarly journals Predictors of Quality of Life Among an International Sample of Mothers of Children 12 and Under With Corpus Callosum Disorders

2020 ◽  
Vol 14 (1) ◽  
Author(s):  
Peggy Henninger ◽  
Donna M. L. Heretick
Keyword(s):  
Quality Of Life ◽  
Corpus Callosum ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Online Survey ◽  
Autism Spectrum ◽  
Double Abcx Model ◽  
Double Abcx ◽  
Abcx Model

Previous research supports application of the Double ABCX model of family adaptation of parents of children with autism spectrum disorder and other pervasive developmental disorders. This is the first study to consider processes of adaptation among parents of children with agenesis of the corpus callosum (ACC). Using a quantitative cross-sectional design, an international sample of 266 mothers of children, aged 12 or under, with ACC completed an online survey. Parental reports of stress, resources, coping, and sense of coherence were evaluated as predictors of four subdimensions of parental quality of life for 178 mothers. In general, findings support the Double ABCX model as a viable approach to understanding processes that are related to quality of life among this group of mothers.

scholarly journals DETEKSI DINI KETERLAMBATAN PERKEMBANGAN UMUM (KPU) PADA SISWA PAUD DI KOTA DENPASAR

2018 ◽  
Vol 2 (1) ◽  
pp. 81
Author(s):  
Made Rismawan ◽  
Kusuma Negara ◽  
Kadek Parsi Kasmini
Keyword(s):  
Developmental Delay ◽  
Random Sampling ◽  
Growth And Development ◽  
Developmental Disorders ◽  
Research Result ◽  
Self Care ◽  
Sampling Technique ◽  
Global Developmental Delay ◽  
General Development ◽  
Cross Sectional

ABSTRAK.Latar Belakang. Masalah pertumbuhan dan perkembangan pada anak khususnya keterlambatan perkembangan umum masih terjadi. Diagnosis awal dan pengenalan tanda-tanda gangguan pertumbuhan dan perkembangan sangatlah penting dilaksanakan. Keterlambatan perkembangan umum (KPU) atau global developmental delay (GDD) adalah bagian dari ketidakmampuan mencapai perkembangan sesuai usia. Penelitian ini bertujuan untuk mengetahui gambaran deteksi dini KPU pada siswa PAUD di Kota Denpasar. Metode Penelitian. Desain penelitian yang digunakan adalah deskriptif kuantitatif dengan pendekatan cross-sectional. Penelitian dilakukan di empat PAUD di Kota Denpasar yaitu TK Kumara Loka, TK Mas Kumara, TK Widya Kumara dan TK Negeri Pembina Denpasar. Sampel dalam penelitian ini adalah siswa PAUD yang berjumlah 131 siswa yang dipilih menggunakan teknik random sampling. Instrumen penelitian menggunakan kuesioner Summary of Diabetes Self Care Activities. Instrumen penelitian adalah alat timbang berat badan, alat ukur tinggi badan dan instrumen Kuesioner Pra Skrining Perkembangan (KPSP). Hasil Penelitian. Hasil analisa data menunjukkan bahwa 116 (88%) responden memiliki pertumbuhan dan perkembangan yang sesuai dengan umurnya, 5 (4%) meragukan, dan 10 (8%) responden menyimpang. Frekuensi gambaran keterlambatan perkembangan pada siswa PAUD di Kota Denpasar 15 responden yang mengalami keterlambatan perkembangan, seluruhnya (100%) mengalami keterlambatan. Pembahasan. Masalah keterlambatan pertumbuhan dan perkembangan anak dapat akibat pola asuh orangtua, pengasuh ataupun suatu penyakit. Keterlambatan motorik pada anak bisa disebabkan oleh sedikitnya rangsangan yang diterima si kecil baik oleh pengasuh, orangtua ataupun mainanya.Hal ini menunjukkan bahwa keterlambatan ini sangat kompleks dan perlu upaya pencegahan agar dampaknya tidak merugikan anak. Simpulan. Oleh sebab itu, orang tua memiliki peran yang sangat penting dalam setiap tahap perkembangan anak. Kata kunci : keterlambatan perkembangan umum, siswa PAUD ABSTRACT.Background. Problems of growth and development in children, especially delay in general development still occur. Early diagnosis and introduction of signs of growth and developmental disorders. General development delays (KPUs) or the development of global delay (GDD) are part of the inability to reach the age of development. This study aims to determine early detection of PAUD students in Denpasar City. Research methods. The research design used is descriptive quantitative with cross-sectional approach. The research was conducted in four PAUD in Denpasar City namely Kumara Loka TK, TK Mas Kumara, TK Widya Kumara and TK Negeri Pembina Denpasar. The sample in this study were PAUD students who used 131 students selected using random sampling technique. The research instrument used questionnaires Summary of Diabetes Self-Care Activity. Instrument of Pre-Screening Questionnaire (KPSP). Research result. The result of data analysis showed 116 (88%) respondents had growth and development according to their age, 5 (4%) were dubious, and 10 (8%) respondents deviated. The frequency of aging in PAUD students in Denpasar City 15 respondents experiencing developmental delay, training (100%) experienced delays. Discussion. The problem of delayed growth and development of children can be caused by child care, caregiver or a disease. Motor delays in children can be demanded by the victim of stimulation received by the child either by the caregiver, old or playanya.Hal this shows the existence of this delay is very complex and need preventive efforts in order not to harm the child. Conclusion. Therefore, parents have a very important role in every stage of child development. Keywords: general development delay, PAUD students

The Role of Big Data in Radiation Oncology

Big Data ◽  
2016 ◽  
pp. 1519-1542
Author(s):  
Issam El Naqa
Keyword(s):  
Big Data ◽  
Cancer Genetics ◽  
Clinical Decision ◽  
Biological Data ◽  
Imaging Features ◽  
Treatment Regimens ◽  
Patient Demographics ◽  
Complex Interactions ◽  
Advanced Stages ◽  
And Biological Markers

More than half of cancer patients receive ionizing radiation as part of their treatment and it is the main modality at advanced stages of disease. Treatment outcomes in radiotherapy are determined by complex interactions between cancer genetics, treatment regimens, and patient-related variables. A typical radiotherapy treatment scenario can generate a large pool of data, “Big data,” that is comprised of patient demographics, dosimetry, imaging features, and biological markers. Radiotherapy data constitutes a unique interface between physical and biological data interactions. In this chapter, the authors review recent advances and discuss current challenges to interrogate big data in radiotherapy using top-bottom and bottom-top approaches. They describe the specific nature of big data in radiotherapy and discuss issues related to bioinformatics tools for data aggregation, sharing, and confidentiality. The authors also highlight the potential opportunities in this field for big data research from bioinformaticians as well as clinical decision-makers' perspectives.

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