Complete Agenesis Of Corpus Callosum Research Articles

Prevalence of corpus callosum pathology in an unselected population. Should assessment of the corpus callosum be included in the routine 20weeks scan?

To determine the prevalence of abnormalities of the corpus callosum (AbnCC) in a non-selected population, to propose a systematic screening protocol for AbnCC in all populations through direct assessment, and to describe the follow-up and prognosis of all AbnCC cases diagnosed in our clinical setting. This was a retrospective review of the prevalence of AbnCC over 11years. We included a sagittal assessment of the corpus callosum (CC) in the second-trimester scan. AbnCC was classified into complete agenesis of CC (ACC) and dysgenesis of CC (DCC; including small, partial agenesis, thick and with lipoma). Of the 38,586 second-trimester scans performed during our screening, 43 cases of AbnCC were detected (prevalence of 0.8/1000). Of the AbnCC cases, 10 cases were identified as ACC (29.40%) and 24 as DCC (70.59%). Follow-up investigations showed that in the 43 cases with AbnCC, 76.5% had other associated ultrasound abnormalities, 26.5% had genetic abnormalities, 11.8% had other MRI abnormalities, and 25% of the children had neurodevelopmental delays (8.8% of the total), which were severe in only one case. AbnCC is found in approximately 0.8/1000 of cases in an unselected population. The findings suggest that systematic and direct assessment of the CC as part of screening ultrasound in the second trimester of gestation should be recommended as a routine practice.

Anomalies of the Corpus Callosum in Prenatal Ultrasound: A Narrative Review for Diagnosis and Further Counseling

Abstract The corpus callosum is the major interhemispheric tract that plays an important role in neurological function. Understanding the etiology and embryology development helps the ultrasound diagnosis for disorders of the corpus callosum and further counseling. The nonvisualization of cavum septum pellucidum or dysmorphic cavum septum pellucidum in axial view are indirect signs for beginners to diagnose complete agenesis of corpus callosum (cACC) and partial agenesis of the corpus callosum (pACC). Further coronal view, sagittal view, and fetal magnetic resonance imaging are also important for evaluation. Genetic testing plays an essential tool in anomalies of corpus callosum by revealing the underlying genetic pathophysiology, such as chromosomal anomalies and numerous monogenetic disorders in 30%–45% of ACC. Diagnosis and prediction of prognosis for hypoplasia or hyperplasia of the corpus callosum are more difficult compared to cACC and pACC because of the limited reports in the literature. However, the complex types often had poorer prognostic outcomes compared to the isolated types. Hence, it is important to evaluate and follow fetal conditions thoroughly to rule out intracranial or extracranial anomalies in other systems.

INDIAMAN-20 (INstant DIAgnosis of 20 Major ANomalies) protocol: application of IOTA diagnostic strategy to fetal anomalies.

To compile a list of instant diagnoses of major fetal anomalies, and to present their sonographic descriptors and test them in a retrospective series of fetuses with congenital anomalies managed at our center. The first step was to identify major anomalies that meet the following criteria: (1) can be diagnosed directly and unequivocally on the basis of a set of descriptors evident on a single sonographic view; (2) are among those more commonly diagnosed in utero; (3) represent major lethal or life-threatening malformations or anomalies for which no or only palliative surgery can be performed. For each of these anomalies, a sonographic descriptor was produced. The second step was to test the descriptors of the instant diagnoses in all cases with these anomalies evaluated since January 2000 in our Fetal Medicine Unit, retrieved from our electronic database. For each congenital anomaly-sonographic descriptor pair we then evaluated the presence vs absence of an unequivocal relationship between anomaly and descriptor, assessing: whether a particular descriptor in a set reference plane identified unequivocally the anomaly, i.e. the same descriptor could not be found in any other malformation; and whether a particular anomaly presented the corresponding descriptor in all cases. Finally, we evaluated whether the sonographic descriptors could be applied in all trimesters or only selectively, considering the natural history of the 20 instant diagnoses. Of the 20 instant diagnoses, five involved the central/peripheral nervous system (exencephaly/anencephaly, alobar/semilobar holoprosencephaly, cephalocele, open spinal dysraphism, complete agenesis of corpus callosum), five involved the heart (hypoplastic left heart syndrome, complete atrioventricular septal defect, severe Ebstein's anomaly, critical aortic stenosis, transposition of the great arteries), five involved the abdominal wall (left-sided congenital diaphragmatic hernia, exomphalos, gastroschisis, body-stalk anomaly) or gastrointestinal tract (duodenal atresia), and five involved the remaining systems (three urinary (autosomal recessive polycystic kidney disease, multicystic dysplastic kidney, lower urinary tract obstruction), two skeletal (transverse limb defect, radial ray defect)). All of the descriptors were found to identify unequivocally the related malformations, whereas four of the malformations were not associated with their reference descriptors in every case. For example, congenital diaphragmatic hernia (left-sided) presented without the stomach in the thorax in 42/93 (45.2%) cases. Due to the natural history of the condition, not all signs were recognizable in the first trimester, some becoming evident only from the second trimester onwards. We have defined sonographic descriptors that enable an unequivocal instant diagnosis for a list of 20 major congenital anomalies: the 'INDIAMAN-20' (INstant DIAgnosis of Major ANomalies) protocol. We believe that using this approach may facilitate focused training of less experienced operators and that it may be incorporated into artificial intelligence and deep learning protocols, further boosting the instant prenatal recognition of these lethal or life-threatening malformations. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Social anxiety disorder in an adolescent with agenesis of the corpus callosum: a case report

BackgroundThe agenesis of corpus callosum (ACC) could impair the connectivity of the hemispheres of the cerebral cortex and cause cognitive impairments, social and behavioral issues, and even psychiatric disorders. Although social deficits are common in ACC patients, it is rare for a social anxiety disorder to occur.Case presentationTo report a 17-year-old adolescent with complete ACC associated with social anxiety disorder, depression, impulsive behavior, and other neurodevelopmental defects such as intellectual disabilities. His avoidance and fear were improved after treatment with sertraline.ConclusionsThis is the first report of social anxiety disorder in ACC patients. The possible relationship between brain structural abnormities and anxiety syndrome should be investigated in more studies.

Complete agenesis of corpus callosum and unilateral cortical formation anomalies detected on fetal MR imaging: a phenotype strongly associated with the male fetuses.

In a previous study of classifying fetuses with cortical formation abnormalities (CFA) with fetal MR, we noticed a cluster of cases with unilateral CFA and complete agenesis of the corpus callosum (ACC). In this study, we provide a detailed morphological analysis of such fetuses using fetal MR to determine if there are indicators (such as the gender of the fetus) that could be used to delineate a genetic substrate of the phenotype in order to inform future studies. We have studied 45 fetuses with the unilateral CFA/ACC phenotype and analysed through an expert consensus panel the location and fine detail of the CFA and the associated findings such as associated anomalies, head size, and sex of the fetus. The frontal lobe was significantly more frequently involved by CFA when compared with other lobes (p < 0.001) but no preference for the left or right hemisphere. CFA most often consisted of excessive/dysmorphic sulcation. The CFA/ACC phenotype was overwhelmingly more frequent in male fetuses (M:F 4.5:1-p < 0.0001). The most frequent associated findings were: ventriculomegaly (16/45 fetuses) and interhemispheric cysts (12/45 cases). This report highlights the specific phenotype of unilateral CFA/ACC that is much more common in male fetuses. This finding provides a starting point to study possible sex-linked genetic abnormalities that underpin the unilateral CFA/ACC phenotype. • We collected fetuses with unilateral cortical formation abnormality and callosal agenesis. • That distinctive neuroimaging phenotype has a strong male gender prevalence (over 80%). • This observation forms the basis of studies about outcomes and genetic substrates.

Fetal corpus callosum abnormalities: Ultrasound and magnetic resonance imaging role.

The corpus callosum (CC) is the major interhemispheric commissure and its abnormalities include agenesis, hypoplasia, and hyperplasia. The CC anomalies are typically related to other central nervous system (CNS) or extra-CNS malformations. The antenatal diagnosis of complete CC agenesis is easy after mid-trimester by ultrasound (US) even in the axial plane. The non-visualization of cavum septum pellucidum and colpocephaly are critical signs in the axial view. More subtle findings (i.e., hypoplasia and partial agenesis) might also be recognized antenatally. In this review, the focus was given on the prenatal diagnosis of CC abnormalities in US and magnetic resonance imaging.

OC01.07: Long‐term outcome of fetuses with isolated complete agenesis of corpus callosum

OC01.07: Long‐term outcome of fetuses with isolated complete agenesis of corpus callosum

Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.

BCORL1, a transcriptional co-repressor, has a role in cortical migration, neuronal differentiation, maturation, and cerebellar development. We describe BCORL1 as a new genetic cause for major brain malformations. We report three patients from two unrelated families with neonatal onset intractable epilepsy and profound global developmental delay. Brain MRI of two siblings from the first family depicted hypoplastic corpus callosum and septal agenesis (ASP) in the older brother and unilateral perisylvian polymicrogyria (PMG) in the younger one. MRI of the patient from the second family demonstrated complete agenesis of corpus callosum (CC). Whole Exome Sequencing revealed a novel hemizygous variant in NM_021946.5 (BCORL1):c.796C>T (p.Pro266Ser) in the two siblings from the first family and the NM_021946.5 (BCORL1): c.3376G>A; p.Asp1126Asn variant in the patient from the second family, both variants inherited from healthy mothers. We reviewed the patients' charts and MRIs and compared the phenotype to the other published BCORL1-related cases. Brain malformations have not been previously described in association with the BCORL1 phenotype. We discuss the potential influence of BCORL1 on brain development. We suggest that BCORL1 variants present with a spectrum of neurodevelopmental disorders and can lead to major brain malformations originating at different stages of fetal development. We suggest adding BCORL1 to the genetic causes of PMG, ASP, and CC dysgenesis.

Association between complete corpus callosum agenesis and recent-onset schizophrenia: A case report

IntroductionCorpus callosum agenesis (CCA) is a rare congenital disorder in which there is a partial or complete absence of the corpus callosum. Within the framework of an anatomoclinical approach to schizophrenia, a few studies have focused on its association with neurological disorders, including CCA.ObjectivesIn this perspective, we report a rare case of an adolescent with intellectual disability, with whose complete CCA was revealed by a recent-onset schizophrenia.MethodsA case report and literature review.ResultsThe teenager M.A. is from a first degree consanguineous marriage. He had no family history, no special habits and no history of seizures. Since early childhood, he had had a psychomotor acquisition delay and relationship difficulties that tended to worsen later. At school, he was teased by his peers and failed 4 times in different rows. At the age of 15, he dropped out of school. Verbal and physical aggressiveness, soliloquy, unmotivated laughter and vague ideas of persecution suddenly appeared, hence his psychiatric consultation one month later. Neuropsychological tests indicated current low Intelligence Quotient (60). Brain imaging revealed complete ACC (see Figure 1). He was diagnosed with schizophrenia and put on antipsychotic treatment at adequate doses and durations, with poor therapeutic response.ConclusionsOur observation provides additional support for neurodevelopmental models of schizophrenia, and confirms literature data indicating that severe structural brain abnormalities would lead to early onset psychotic symptoms which are often refractory to pharmacological treatments

Neurodevelopmental Outcome of Patients With Agenesis of Corpus Callosum

Background: Agenesis of Corpus Callosum (ACC) is a type of brain dysgenesis with various clinical manifestations. Objectives: This study aimed to investigate the clinical and neurodevelopmental outcomes of patients with ACC. Materials &amp; Methods: In this cross-sectional study, the clinical and neurodevelopmental conditions of 62 patients with complete ACC referred to subspecialty clinics of pediatric neurology, Isfahan University of Medical Sciences, Isfahan, Iran, were investigated. Quantitative data were shown as Mean±SD, and qualitative data as frequency or percentage. In addition, the f Chi-square test was used to compare some data in SPSS version 22. Results: In this study, 62 patients, including 29 boys and 33 girls with a Mean±SD age of 4.99±5.07 years, were included. Among the patients examined, 54.4% were born of consanguineous marriage, 82% had developmental delays, 80.4% had mental retardation, 89.1% had a speech delay, 23.7% had nutritional problems, 42.4% had facial dysmorphic features, and 27.6% had abnormalities of muscle tone. Among the associated problems stated by the patients, 15.5% of them had heart diseases, 22.4% visual disorders, 5.2% hearing deficit, 25.8% behavioral problems, 50% seizures, and 53.3% had abnormal electroencephalogram. Interestingly, 12.9% of the patients had normal or near-normal development. Conclusion: The prevalence of developmental delays, speech and language disorders, mental retardation, facial deformities, seizures, and abnormal muscle tone were common in the patients with ACC.

Beyond Isolated and Associated: A Novel Fetal MR Imaging-Based Scoring System Helps in the Prenatal Prognostication of Callosal Agenesis.

Although "corpus callosum agenesis" is an umbrella term for multiple entities, prenatal counseling is based reductively on the presence (associated) or absence (isolated) of additional abnormalities. Our aim was to test the applicability of a fetal MR neuroimaging score in a cohort of fetuses with prenatally diagnosed isolated corpus callosum agenesis and associated corpus callosum agenesis and correlate it with neurodevelopmental outcomes. We performed a single-center retrospective analysis of a cohort of cases of consecutive corpus callosum agenesis collected between January 2011 and July 2019. Cases were scored by 2 raters, and interater agreement was calculated. Outcome was assessed by standardized testing (Bayley Scales of Infant and Toddler Development, Kaufman Assessment Battery for Children) or a structured telephone interview and correlated with scores using 2-way ANOVA. We included 137 cases (74 cases of isolated corpus callosum agenesis), imaged at a mean of 27 gestational weeks. Interrater agreement was excellent (0.98). Scores were higher in associated corpus callosum agenesis (P < .0001) without a significant score difference between complete and partial corpus callosum agenesis (P = .38). Outcome was assessed in 42 children with isolated corpus callosum agenesis and 9 with associated corpus callosum agenesis (mean age, 3.1 years). MR imaging scores correctly predicted developmental outcome in 90.7% of patients with isolated corpus callosum agenesis, improving neurodevelopmental risk stratification in corpus callosum agenesis. The scoring system is very reproducible and can differentiate isolated corpus callosum agenesis and associated isolated corpus callosum agenesis (significantly higher scores) but not between partial and complete corpus callosum agenesis. Scores correlated with outcome in isolated corpus callosum agenesis, but there were too few associated postnatal cases of isolated corpus callosum agenesis to draw conclusions in this group.

VP27.12: Evaluation of agenesis of other commissures in fetuses suspected with agenesis of corpus callosum with fetal MRI

To evaluate agenesis of anterior commissure and hippocampal commissure in fetuses with agenesis of corpus callosum. Out of 821 fetal MRI's that were done during 2017–2018, fetuses with 34 fetuses with callosal agenesis entered the study. MRI's done on a Seimens Avanto 1.5T and interpreted with prior knowledge of the midtrimester anatomical survey. Retrospective evaluation of the fetal MRIs for associated commissural agenesis was done. MRI confirmed ventriculomegaly in 94 cases. In 45 (47.8%) out of 94 cases with ventriculomegaly the anomaly of corpus callosum was suspected in ultrasound. Complete corpus callosum agenesis in 19 Cases and partial agenesis of the corpus callosum in 11 cases were identified, and the remaining 15 cases had normal corpus callosum. In fetuses with complete callosal agenesis anterior commissure was visible in 11 out of 19, hippocampal commissure in 2 out of 19 and none in 6 out of 19 fetuses. Anterior commissure is present in many cases of callosal agenesis. Details of other commissural agenesis might become clinically relevant when later follow-up studies establish its association with neurodevelopmental outcome. Supporting information can be found in the online version of this abstract Supporting Information Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

An analysis of 109 fetuses with prenatal diagnosis of complete agenesis of corpus callosum.

Agenesis of the corpus callosum (ACC) is the most frequent commissural malformation of the brain. It continues to be an important cause of the pregnancy termination associated with the central nervous system (CNS). The aim of the study is to provide a comprehensive assessment of fetuses with diagnosis of complete ACC, as well as postnatal neurodevelopmental outcomes. The data of 75,843 fetuses were screened for evaluation of complete ACC between 2003 and 2017, and a total of 109 cases with complete ACC were included in the study. ACC was considered isolated when no additional anomalies were detected, and ACC was considered complex when additional anomalies were present. The prevalence of complete ACC was 9.4 per 10,000 live births, and the incidence was ranged from 1.8 to 16.6 per 10,000 person-years. Patients with isolated ACC had a significantly higher survival when compared with patients with complex ACC (97.4%, n = 38/39 vs. 68.8%, n = 22/32, P = 0.001).The most important cause of death were congenital heart disease and/or respiratory failure during neonatal period. Developmental and intellectual disabilities were significantly higher in the complex ACC cases (P < 0.001). Postnatal neurodevelopmental outcomes were completely normal in 79.4% of cases with isolated ACC. Isolated complete ACC is usually associated with a favorable outcome. The most important prognostic factors are the presence or absence of associated congenital anomalies.

Utilization of neurosonography for evaluation of the corpus callosum malformations in the era of fetal magnetic resonance imaging.

We evaluated the ability of fetal neurosonography and magnetic resonance imaging (MRI) to asses callosal anomalies (CA) and associated cranial malformations. We also aimed to determine the long-term prognosis of the cases. Thirty-six cases of CA diagnosed combined with neurosonography and MRI between January 2012 and October 2017 were retrospectively reviewed. Seventeen of 36 fetuses were diagnosed complete agenesis of corpus callosum (CACC) (47.2%), 9 had partial agenesis of corpus callosum (PACC) (25%) and 10 was dysgenesis of the corpus callosum (DCC) (27.2%) at ultrasonography (US) examination. Fetal MRI reported 16 of cases as CACC (44.4%), 11 PACC (30.5%) and nine (25%) DCC. The overall consistency between neurosonography and MRI in the definition of CA were 91% of cases. Sulcation anomalies were present in 9 cases in the US (25%) and 11 cases in MRI (30.4%). Seven of cases showed posterior fossa abnormalities in the US (19.4%) and eight cases in MRI (22.1%). Neonatal MRI added new findings to fetal MRI and neurosonography including grade-1 intraventricular hemorrhage and periventricular leukomalacia in two cases (12.5%). Eighteen cases were terminated (50%), 17 cases were followed up and mean follow up interval was 39 ± 5.1 months. The neurologic outcome was abnormal in seven (41.7%) patients. Presence of associated brain anomalies worsened the prognosis. Fetal neurosonography has a comparable performance with MRI in the diagnosis of CA and associated anomalies. It should be used in collaboration with MRI to achieve accurate diagnosis which is crucial for counseling.

Imaging features of complete agenesis of corpus callosum in a 3-year-old child.

A 3 year old male child presented to the pediatric outpatient department with the history of gross developmental delay. His birth history indicated normal vaginal delivery with immediate cry at birth. Antenatal history of the mother was also insignificant. MRI brain was performed which showed complete agenesis of corpus callosum. MRI findings of the brain are described.

The value of the Oblique of three-dimensional ultrasonography in diagnosis of fetal cavum septum pellucidum

Objective To evalute the clinical significance of the Oblique view of three-dimensional ultrasonography(3DUS) in diagnosis of the fetal cavum septum pellucidum(CSP) malformation. Methods Thirty-eight cases of fetuses with the CSP malformation, found originally by trans-abdominal two dimensional ultrasonography(2DUS), were scanned using Oblique of trans-abdominal 3DUS. The results were compared with MRI inspection and post-natal follow-up. Results Thirty-eight fetuses suspected with 3DUS Oblique were fully confirmed by autopsy and MRI, the distribution of CSP malformation included: ①Twenty-one cases with absence of septum pellucidum(ASP), among them 10 cases with isolates of septum pellucidum, 1 case with septooptic dysplasia(SOD), 10 cases with agenesis of corpus callosum(9 complete agenesis of corpus callosum and 1 partial agenesis of corpus callosum. ②Twelve cases with shrinkage of them 9 simple shrinkage and 3 partial agenesis of corpus callosum respectively. ③Five cases with enlargement, all of which also with increasing sizes of cavum vergae. Thirty-five cases are consistent with MRI observations. The diagnosis consistency differences between both methods were not significant. Conclusions 3DUS Oblique view can reveal the structure of fetal cavum septum pellucidum and corpus callosum clearly, which enable more accurate prenatal counseling and boild firm base for further diagnosis. Key words: Ultrasonography, prenatal; Fetus; Cavum septum pellucidum; Oblique imaging

Corpus callosum agenesis and interhemispheric cysts: Epileptic evaluation and long-term outcome in 9 children

Objective: To describe perinatal history, clinical phenotype, MR features, neurological outcome, and EEG patterns of pediatric patients with Corpus Callosum Agenesis (CCAg) and Interhemispheric Cysts. Methods: We selected 9 patients (8 males, mean age 7,3 +/−5,7) with CCAg (partial or complete) and interemipheric cysts from our imaging database of 378 patients with midline brain anomalies scanned at Gaslini Children Hospital from Jan 2005 to Jan 2017. Interemispheric cysts were grouped according to the 2001 Barkovich classification. Presence and location of gray matter anomalies such as polymichrogyria (PMG) or nodular heterotopia (NH) were recorded. Perinatal, clinical, genetic testing (when available), EEG pattern, age of onset of seizure (if present) with drug responsivity were reported. Results: Complete CCAg was present in 6 individuals, while the remaining cases had partial CCAg. Type1 cysts were present in 1 patient (subtype1a). Type 2 cysts were 8 (2 subtype2a, 2 subtype2b, 1 subtype2c and 1 subtype2d). Of interest, 2 patients had an MRI pattern overlapping between subtype2b and 2c (transmanterllar NH, diffuse PMG, macrocephaly, developmental delay). EEG epileptic activity was present in all but epilepsy onset was observed in 3/9 cases, with drug response in all. Major neurological defects were excluded. Developmental delay was observed in all cases but cognitive outcome, registered for 6/9 patients, was milder: 3/6 normal IQ, 2/6 bordeline and 1 with mild Intellectual Disability. Psychiatric data were recorded for 7/9 patients: hyperactivity and anxiety were frequent comorbidities (5/7). Conclusions: CCAg associated with Intehemispheric Cysts may be associated with a good neurological outcome with borderline or normal cognition and no major neurological signs in the majority of patients. Despite the presence of EEG anomalies, the occurrence of epilepsy in these cases is rare and usually responsive to antiepileptic drugs.

Early-Onset Shapiro Syndrome Variant Treated with Pizotifen: A Case Report

ABSTRACTShapiro Syndrome is a rare entity defined by the triad of recurrent spontaneous hypothermia, hyperhidrosis, and agenesis of the corpus callosum. Fewer than 100 cases have been reported so far and there are only few cases without a complete agenesis of corpus callosum (“Shapiro Syndrome Variant”). In this article, we report the clinical, electroencephalographic, and neuroimaging data of a patient with early-onset Shapiro Syndrome Variant. The case study describes a 4-year-old patient with episodes characterized by generalized hyperhidrosis, hypotonia, impaired consciousness, and hypothermia with onset before the first year of age. We captured an event during which the EEG showed rhythmic low- to medium-voltage theta waves without clear epileptiform activity. Brain MRI was normal and Shapiro Syndrome Variant was hypothesized. We started treatment with pizotifen, and after 2 years, the patient showed a reduction in frequency and duration of episodes. Shapiro Syndrome, although rare, should be considered in the differential diagnosis in patients with neurovegetative symptoms which suggest epileptic attacks at first. Our case is of particular interest to specialists because Shapiro SyndromeVariant is a rare syndrome and our patient had a very early onset of symptoms.In addition, we report our experience with pizotifen therapy, which produced a good response.

P276 Transcranial Direct Current Stimulation (tDCS) replaces Electroconvulsive Therapy (ECT) in a patient with corpus callosum agenesis and catatonic schizophrenia

The 42-year-old male patient with known complete Corpus Callosum Agenesis (CCA) had shown severe catatonic symptoms since adolescence and been treated with weekly electroconvulsive therapy (ECT) for almost six years, because drug treatment was ineffective. ECT was discontinued after the patient experienced a third degree atrioventricular block and cognitive deterioration. After obtaining approval from the local ethics committee and informed consent from the patient and his relatives, tDCS was started with the following stimulation settings: Anode over the left dorsolateral prefrontal cortex (F3) and cathode over the right (F4); 2 mA for 2 × 20 min/day (90-min interval), 3x/week for two weeks, once to twice weekly thereafter with the same parameter settings. A weekly clinical assessment was conducted that included the Bush-Francis Catatonia Rating Scale (BCRS). Functional magnetic resonance imaging was performed before and after 70 and 140 tDCS sessions to assess resting-state functional connectivity, structural brain volumes (T1-MPRAGE, T2-FLAIR) and Diffusion Tensor Imaging (DTI). The patient overall received about 300 tDCS sessions. The patient showed fewer catatonic symptoms during tDCS treatment than during ECT treatment (BCRS scores: 20-27/69 during ECT, 4-12/69 during tDCS with one outlier of a BCRS score of 18 at the September 9, 2015). His speech fluency, and personal hygiene improved. Seed-based functional connectivity in the left insula and the frontal brain showed decreased variability in the fluctuation of the BOLD signal at measurement t2 and t3 compared to baseline. Frontal and left insulair connectivity increased after 140 tDCS sessions compared to baseline. Post 140 tDCS sessions structural connectivity measured by the means of DTI showed an increased number of white matter fiber tracts (streamlines) in many brain regions with a focus in frontal (e.g. insulair cortex) and temporal (e.g. Hippocampus area) brain regions. This was also shown in volumetric brain changes in these regions. In this patient with severe catatonia, prefrontal tDCS was more effective than maintenance of ECT,suggesting that tDCS may exert clinically significant effects on catatonia even in a case of altered anatomical connectivity caused by CCA. The alterations in structural and functional MRI suggest strong changes that may be due to the long-term treatment using prefrontal tDCS and/or the possible recreation from ECT treatments/anesthesia. Download : Download high-res image (200KB) Download : Download full-size image Download : Download high-res image (138KB) Download : Download full-size image

Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.

To gain a better understanding of the clinical and genetic features associated with agenesis of corpus callosum, we enrolled and characterized 162 patients with complete or partial agenesis of corpus callosum. Clinical and genetic protocols allowed us to categorize patients as syndromic subjects, affected by complex extra-brain malformations, and nonsyndromic subjects without any additional anomalies. We observed slight differences in sex ratio (56% males) and agenesis type (52% complete). Syndromic agenesis of corpus callosum subjects were prevalent (69%). We detected associated cerebral malformations in 48% of patients. Neuromotor impairment, cognitive and language disorders, and epilepsy were frequently present, regardless of the agenesis of corpus callosum subtype. Long-term follow-up allowed us to define additional indicators: syndromic agenesis of corpus callosum plus patients showed the most severe clinical features while isolated complete agenesis of corpus callosum patients had the mildest symptoms, although we observed intellectual disability (64%) and epilepsy (15%) in both categories. We achieved a definitive (clinical and/or genetic) diagnosis in 42% of subjects.